Myriad of problems with formerly healthy, athletic teen

[Kathy]

My now 15 y/o son, about whom I have posted in the heart forum, has suffered a marked deterioration in his usual perfect athletic health. We first noted HTN in 8-98 during an EBV, strep C infection. A good resting BP would be @150/90+ with paroxysmal bursts as high as 186/128, 170/110, etc. Cardiac testing in 8-99 indicated LVH, rt. atrial enlargement. EKG=RBBB, LVH. Stress test=inverted T-waves upon standing, etc. A 24 hr. urine for catechols elevated at 131 (high normal 80) 5 days following "attack." Renin elevated at 10.3 (high normal 3). Endocrine w/u  9-99 revealed sexual precosity (full puberty age 8). Thyroid tests, tests for 11-hydroxylase deficiency, etc., apparently normal. Has hair distribution, sexual development of 28-30 y/o man. Had MIBG scan for extra-adrenal pheo; left adrenal enhanced thrice more than right but no tumor seen. 5-HIAA for carcinoid syndrome (high normal 5) was 4 on 11-1-99; 3 wks. later elevated at 11.8. Spent 12 days at Mayo; autonomic reflex testing "somewhat" abnormal. Past 3 weeks, pupils are always dilated, frequently fixed and often non-reactive to light; past 1 week they are different sizes. Attending physician at Mayo freaked when he first saw it but ophthalmological exam normal so they decided this was "normal" for him. He also has attacks of anger over things that would never have bothered him before. MRI of brain supposedly normal 10-21-99. Oddly enough, on tilt table testing, we found his BP is now very low (124/45)and heart rate is brady when lying down, but upright it reverts to HTN and he is often tachy again, as before. Renal angiogram with venous sampling was done; supposedly normal, although he does have newly discovered bilat abdominal bruits which they are saying are "normal" for him. He has lost 27# since late 8-99, yet eats like a horse. CT scan of chest, abdomen, pelvis supposedly normal also. (All scans were performed in Chicago.) Since 8-99, he has developed profuse inappropriate sweating, whether in airconditioning or outside in cold weather. Also, since age 8 when he had the rapid puberty (pubic hair, etc.) he has developed a bright red flushing of the lower half of his facial cheeks. In addition, in past 1-1/2 wks., he had periorbital edema. He started on Lopressor, 50 mg. BID on 10-25-99. I want to reduce the nighttime dosage to 25 mg. as his BP and HR are going so low, but Mayo says no, local docs who have cared for him 6 yrs. say yes. They agree with me that NONE OF THIS IS NORMAL FOR HIM. They are very concerned; I am beside myself. The child goes downhill every day; how can any of this be "normal?" I am very concerned about the eyes; many things could have happened between the time of the MRI and the ophthalmologic exam. Anisocoria has many causes, I realize, including increased intra-cranial pressure. Why is everything dismissed as normal when none of it ever happened prior to August of 1999? Child is a top athlete in 3 sports; Mayo is going to fax a release for him to return to varsity football (starting quarterback) and basketball (forward taking charges to draw fouls). Do you have any suggestions for me, please? I know my son, I have worked in medicine for 18 years, and myself, along with his local physicians, know darned good and well that none of this is normal for this wonderful young man. I would be eternally grateful if you could shed some light on this situation. It is destroying our lives, and he is changing before my very eyes; his pants fall off without a belt (waist went from 36 to 31-3/4 in. in 6 wks. and weight still dropping. Thank you so much.

[CCF Neuro[P] MD, RPS]

Dear Kathy:

Wow, sounds like a roller-coaster ride with your heart and emotions on the downside of happy.  I am sorry that your son is going through this.  Full puberty at 8 is alittle accelerated and did this fact not prompt his pediatrician into an endocrine workup?  Anyway, the high resolution MRI of the hypothalmus was normal?  The paraneoplastic workup was also negative?  What metabolic workup has been performed?  Was there any abnormality of urine or serum amino acids or organic acids?  Any muscle weakness in all his symptoms?  I am not sure what would drive such a sympathetic response without a hypothalmic lesion, paraneoplastic tumor, primative neuroendocrine tumor, or quarky mitochondrial disorder.  Sounds like things have been thorough.  If they haven't checked for a possible paraneoplastic disorder I would run the panel, including the testis-limbic system antibody.  We have seen some patients with a mitochondrial disorder present with some of the symptoms you indicate your son has, but certainly not all.  It might be worth running a few metabolic labs such as urine and serum organic acids and amino acids.  I would send the urine organic acids to Dr. Richard Kelly at Kennedy-Krieger Institute at Johns Hopkins.  

Sorry, that I was not able to add much.

Sincerely,

CCF Neuro MD

[Kathy]

Thank you for the quick response. Nothing was done at 8 yrs. old because I started my menses at 9, and he had no other symptoms of absolutely anything (he sees a GP). I know full chem profile, lipids, thyroid function, liver/kidney were done as well as renin, aldosterone, deoxycorticosterine, desoxycortisol, cortisol and the 24 hr. urine for catechols, a plasma free for catechols, VMA; I know Mayo repeated most of these but have no idea what else they ordered (they did not make me privy). MRI of brain w/attentuation to pituitary/hypothalamus was normal in Chicago unless Mayo picked up something they didn't mention. What is required in the metabolic work-up and I can find out what was done? And how do I get the samples to Dr. Kelly at Johns Hopkins? I honestly don't care where we have to go, to the moon or Mars, to get my child well, or at least get some answers so that I can make rational and educated decisions about his care. God bless you!!

[CCF Neuro[P] MD, RPS]

Dear Kathy:

Sounds like the metabolic workup did not include a paraneoplastic evaluation.  I think it would not hurt to include this.  It also sounds like they did not do a mitochondrial workup, which is likely not going on, but at this point it wouldn't hurt.  I would get serum and urine free and acylcarnitine, organic acids and amino acids as a baseline beginning.  You can have your physician call Kennedy-Krieger and get the proper forms.  This is the important thing, I would only send the urine organic acid analysis to Dr. Kelly at Kennedy-Krieger.  

Females usually start developing sexually before males (so what else do females do first and better before males), and 8 years old for a male is very unusual.  We often see females starting this young, but it is highly unusual in males.  Do you know his bone age at the time of puberty?  However, at this point, it is an nonentity.

Increased intracranial pressure is usually manifested by papilledoma which the opthalmogolist or neurologist can pick up easily.  Also, he would have neurological signs of nausea and vomiting with his headache, together with blurry vision.

Sorry, I am not much of a help.

CCF Neuro MD

[Kathy]

Thank you so much for the valuable info; I'll get on it right away. Our doc is good about giving me scripts or orders for whatever I come up with which might be beneficial for Jonathan because our docs are lost, too, and they care so much about my son. There was no paraneoplastic testing performed. There is no muscle weakness; the boy is strong as a horse, does 200+ push-ups and 50+ sit-ups nightly to retain muscle and tone. He looks really "buff," as the kids say, but now his appetite is decreasing, also, which could be attributed to a bit of "pseudo depression" over the lack of diagnosis and the loss of so much of his active life, in addition to having lost 27#. One thing I did forget to mention is that, also within the past 3-4 months, the palms of his hands and the soles of his feet are a very definite orange color. Trust me, my son does not eat orange and yellow vegetables, either. The underside of his tongue is of normal color. Mayo termed this "normal" for him, as well. I am sure you can understand my frustration at their decision to term the marked flushing (he is either quite flushed, awake or asleep, or a very unhealthy greyish color in the face, take your pick), and the new onset of the inappropriate profuse perspiration, the pupillary anisocoria, the abdominal bruits, the extremely low BP and HR when supine and the periorbital edema as "normal" for him. How can any of these problems be normal when they develop in less then 3 months, in addition to the weight loss? That just slays me. Why not decrease the evening Lopressor to 25 mg. vs. 50? They say no. And they blew off the 5-HIAA elevation (normal 4 to 11.8 in 3 weeks) as "probably dietary" and yet under my close supervision, he had nothing containing seratonin for 3 days prior to the test! I realize there may well be something coming on him which has been caught too early to clearly delineate; however, calling this "normal" is infuriating to a single mother, especially one who has medical knowledge. When I put my hands or feet next to his, the difference is color is absolutely striking. Also, in regards to your question about bone age, a clear answer I do not have; however, in 3-99 at a visit for a shoulder injury for baseball, in addition to a scan he had in Chicago in 10-99, we did see that he continues to have bony epiphysis and that his bones have not totally fused, especially in the shoulders and feet. One reason given for this is that the bones supposedly have a harder time forming "closure" over the large muscle mass my child has. He is 5'11 (no growth spurt for 2 years now) and is very muscular as he was into weight training, and the 3 sports. I would like to know the definition Mayo has of the "somewhat abnormal" autonomic reflex testing, as well, but since they don't know me per se, I am not privy to all the medical terminology, which puts me at a disadvantage until I can get copies of actual records and test results. They were not even going to mention the elevation of 7.4 points in the 5-HIAA (I read it myself on his chart!--I am persistent, but this is my child.) Please add anything you can think of and we will pursue. I don't care if I have to go to the ends of the earth for this boy. I already lost a 3 year old before this one was born (massive meconium aspiration at birth resulting in CP, but an absolutely beautiful child), and I won't let this rest. Also, Jonathan did have pyloric repair x2 by age 11 weeks. And what is to say that nothing could develop from the time he had the MRI over a month ago, until the current time? My point of view (and I could, of course, be wrong) is that when all of this, and I mean ALL of it, has come on him within 3 months, why couldn't something, possibly neuro, manifest in one month? Our track record isn't too good here, you know, for things happening in a very rapid succession of decline. He does have cafe-au-laits, the first of which came on him at 8 mo. of age, on the right bicep, the size of a dime (now the size of a baseball). He has axillary freckling and did have more cafe-au-laits in the groin (of course I am no longer allowed to examine that area, as an aside, both endocrinologists have been very impressed by the "size of the family jewels.") No lisch nodes were seen, either, no family history of anything remotely related to any of Jonathan's situation. I certainly want to thank you for your interest. You have been very helpful and just the knowledge that you have taken an interest in my son, in addition to your very kind and understanding words, certainly does you a tremendous credit, as a physician as well as a human being. Woman may do many things first (of course), but you sound like a really great and kind-hearted guy. Where were the men like you when I was 18 instead of 39?? Thanks again, and if you will, keep me posted on anything you can think of, because we'll gladly have it done. Bye!

[Kev]

Which Mayo clinic was it? I ask because I was at the one in Rochester, Minnesota (I'm from Canada),and was on the 8th floor Neurology...If that's where you went I can give you some advice on getting records quickly ( worked for me...) and a contact.

[CCF Neuro[P] MD, RPS]

Dear Kev:

Thanks for the help.

CCF Neuro MD

[Kev]

Your welcome, CCF. Anyway,Kathy, if it was in Rochester there is a women named "Bernie"(I don't remember her last name)but she is the patients rights/relations administrator for Neurology. Just call the clinic and ask to speak to her on 8th floor Neuro and she will help get your records.....She really helped me get my records quick...It's just my opinion, but Mayo is WAY overrated I believe...based on my experience there...

Kev

[Kathy]

My son was at Mayo in Rochester. We bounced around from floor to floor, building to building. I appreciate any assistance you can give to me. To date, I have not heard from the attending, who was out of town the last 4 days of our stay; only the fellow working with him. If Mayo is underrated, and I'm not saying it isn't, where does one go for the "team approach" to medicine? My son obviously needs a group of physicians who will work together. His problems are obviously endocrine, cardiac, possibly neuro, etc. I spoke over the weekend with the first cardiologist to perform a test on him back in August of 99 (the EKG and echo), informed him of what has transpired since then, and needless to say, he was in shock!! He stated that periorbital edema and the anisocoria (dilated, unreactive, unequal pupils) still sounded renal to him. I would like a final report of the "wrap up" at Mayo, in addition to the records. Please let me know who to contact, and CCF Neuro, if you have anything to add, or any suggestions of where we can go to find out what is wrong with this child, please advise. Thanks, everyone!

[Kathy]

I guess this didn't post the first time.....My son was seen in Rochester (we live in Indiana.) One disadvantage was that our attending (endocrine) was away the last 4 days of our visit due to Thanksgiving, so we were "followed-up" by his fellow, who I liked, but didn't feel was truly qualified as of yet to rule out so many things as "normal" for my son. Jonathan obviously has endocrine problems, and other than Mayo, which could very well be overrated, where does one go for the multidisciplinary team approach of physicians? My son obviously needs an endocrinologist, a cardiologist, possibly a neurologist, etc. Mayo's radiologists found discrepancies on the MIBG from what we had been told in Chicago. I don't understand why the attending has not returned my phone calls for a "wrap up" of my son's stay in Rochester. It was lengthy, and as I stated, Jonathan has a myriad of unusual things going on, including the orange palms and soles of feet (don't know if I mentioned that before). Please let me know how to obtain copies of ALL of the records from Mayo at your earliest convenience.  And CCF Neuro, if you have anything else to add, any suggestions on where to go, or what to do with this child (he is now losing his appetite, as well), please let me know. I will continue to pursue the suggestions you made previously. Thanks to you both, and keep in touch with me, please. It's nice to know SOMEONE listens!!

[Kev]

Kathy, I answered the question above...Each floor and building at Mayo as you know has different special areas and divisions.Your son was seen by a neurologist which would be on the 8th floor...( I can't remember the building)..doesn't matter...Autonomic specialists are there...I saw a real piece of work named Dr. Fealey who is an Autonomic Neuro ( not much of one ..)Mayo's "team " approach consists of feeding patient info into a central computer database...and pulling up the file as needed..Anyway, call the main Mayo switchboard, ask for 8th floor Neurology and which building is it ( if you don't remember,maybe Guegenheim,I think ). Ask to speak to "Bernie", the patient rights administrator for neurology there...Explain your situation and SHE will get moving on your records for you...Guaranteed!Your records are in the computer, all of them...they just need someone to kick them in the ....

[Kathy]

Thanks, Kev. I really appreciate your help!

[CCF Neuro[P] MD, RPS]

Dear Kathy:

Again, I am sorry that I'm not much help.  I was thinking about your son again last night and something came to mind.  Did they look for Fabry's disease?  This is an X-linked condition that a defeciency in an enzyme alpha-galactosidase can cause a multitude of problems, especially with dysautomonia like your son.  Usually, strength and mental function are not too affected.  Just another thought.  I will keep thinking and please keep me informated about the paraneoplastic work-up.

Sincerely,

CCF Neuro MD

[Kathy]

Thanks for another suggestion; I'll take anything you have to throw out. I am so impressed with the concern you are showing for us. I STILL haven't heard from Mayo. By the way, the Chief of the Dept. of Radiation Oncology here at the hospital in which I am employed looked at my son's 10 page H&P, then had me dig out the dictated report of the MRI of his brain. I found it late last night (I have basically forgotten what that wonderful thing called sleep is, anway), and it does state that the pituitary is "at the upper limits for size." What I find odd about the report, and maybe I'm wrong, is that the orders were for, and the report states, an MRI of the brain with attention to the pituitary and hypothalamus. However, there is no mention of any other portion of the brain than the pituitary gland. No mention whatsoever of anything to do with the hypothalamus, or any other portions. And after Mayo found that Children's Memorial had "misinterpreted" (their words) the MIBG scan (left adrenal did enhance twice that of the right), I just wonder. So, the radiation oncologist suggests a repeat MRI of the brain, especially since so much has happened in the past 3 months.

I find so little information on the anisocoria and basic non-reaction of the pupils. That really freaks me out, so to speak, to look at his eyes, in light or dark, next to my own face, when mine are pinpoint, and his are HUGE. Also, I am not quite sure just what needs to be ordered for a paraneoplastic work-up. We did send the urine for amino acids to Johns Hopkins this past Monday. I have to get the orders from our local GP, so please, when you see this, do I just request paraneoplastic work-up (plasma?) with testis-limbic system antibody? We will have it drawn here at the hospital, so will the lab know what to draw for certain? This is Indiana, after all......I probably shouldn't say that-HA!

Thanks again for all your help, and keep up the good work. I wish I could meet all of you who have been so helpful, considerate and obviously are researching to help me. I could kiss you! I'll let you know everything that goes on. I'm desperate.

[Kathy]

Just so I don't sound stupid (I am SO tired), I guess you did give me the tests that need to be requested for the paraneoplastic work-up already-DUH.

The tests I have down that need to be done for this panel include: serum and urine free acylcarnitine, serum and urine organic acids, and serum amino acids (urine amino went to JH), including the testis-limbic system antibody. Is this correct? What tests would be appropriate for Fabry's?

Thanks again....I owe you.

[Kev]

Regarding your Mayo records...Here's the contact:

Bernie Nienow
Patient Relations Representative
Neurology Dept.
Mayo Desk 8
[phone]

Hope this helps...

[Kathy]

Thanks, Kev. I still haven't heard from the doc at Mayo--three weeks today since my son had the renal angiography, etc. I will try to contact the woman you mentioned. I have also been researching the Natl. Dysautonomia Research Foundation's website, and this CCF neuro is certainly on the mark about my son having dysautonomia; he was already tested for some things--I saw and watched the testing (abnormal), but will anyone call me back? NO. So now I do need his records because we have to start all over again. The neuro who has answered my posts has given us some excellent ideas. I appreciate your help.

[Kathy]

Dear friend neurologist: I finally had contact with the secretary of the attending at Mayo. He told her to tell me they want us back at Mayo on Jan 4th, to see him (he said to relate he is "very concerned" about my son), and then later in the day, we will also see a nephrologist. I am going to insist on a repeat MRI of the brain, and may request Mayo perform the additional panels you requested. At least it's a start. I am going to take a copy of all our posts here in the forum, and go over them with him (I am thorough, too). If you come up with anything else, please keep adding it to the forum for me. I really appreciate your help, and you're right about the dysautonomia!! Something is causing his nervous system to go haywire. He has now, within the past 3 days, completely stopped persiring, as well. The pupils are still massively dilated, etc., and the weight loss continues.

I can't thank you enough for the concern, let alone the time you are spending researching this for me. You are a wonderful person and deserve a huge, so take one over the net, okay? Thanks so much---I still owe you!!

I'll let you know what happens at Mayo, but I will continue to research everything I can get my hands on.

[Kev]

Dr. Philip Low is top dog I believe for Autonomic Disorders at Mayo in Rochester .I had the tilt table test, urine tests that would show abnormalities in norendephrines, etc.Thermosweat test but nothing was conclusive...Hope your son has better luck.

[Kathy]

Kev:  I'm copying all this info to take with me; thanks for the lead on Dr. Low. My son had tilt table testing, which I could certainly see was abnormal, and he had the thermosweat test, but I don't have a result on that one. All I could see was that the green line indicator, whatever it was for, went sky high in an arc about 6 times that of the other lines, which also went up. Appreciate the good thoughts and I hope you are doing alright yourself. Thanks for all your help and have a blessed holiday season.

[CCF Neuro[P] MD, RPS]

Dear Kathy:

Let us know how things turn out.  The Mayo Clinic is a wonderful place as I spent time there as a medical student.  But like any place it is run by humans and we are all full of human qualities and are prone to mistakes and oversights.  Any complicated workup is difficult and some things are just not thought about.  That is why most of us like to talk to one another about what we think might be going on.  I promise to keep thinking.  Know that as I go to sleep at night, I am praying for your boy.  

Sincerely,

CCF Neuro MD

[Kathy]

Dear CCF Neuro:  Your concern for my son and I is absolutely phenomenal, and I can't tell you how much it means to me. Of interest, Jonathan is now down 33#, which means he has lost another 8-9# just since we returned from Mayo exactly 3 weeks ago. I am returning there armed with a wealth of information, some of which you provided, and I am going to request, and hopefully not have to insist, that a repeat MRI of the brain be performed, as well as the paraneoplastic work-up with the testis-limbic system antibody, a 24 hr. holter monitor to look for arrhythmias, as well as monitor that BP and HR properly (should have been done already, I suppose). I think it's interesting that we're being referred to nephrology; I'm not sure why, but at this point, I'll take anything we can get! I also would like Jonathan to see a neurologist (wish it were you!!) We should have the urine animo acids back any day from Johns Hopkins, also. I can't thank you again for all the help you have provided, when you don't even know us. You truly are a Godsend, and the type of physician they were all meant to be. You have a wonderful heart. Wish I could meet you some day.

Thanks for keeping us in your prayers, and please continue to give me anything you can. God Bless!

[CCF Neuro[P] MD, RPS]

Dear Kathy:

Don't forget to have your son tested for Fabry's disease.  It is a real outside chance but you might as well.  They will know what to do at the Mayo Clinic, but make sure (I guess I am always apprehensive about getting things done right) they do the CTH level in the urine sediment, plasma, and cultured fibroblasts.  My Christmas wish is for the etiology of your son's illness to be found.  I know that Christmas is something difficult when a family member is ill.  But the season is the heartfelt thankfulness of what was done for us not what we have.  Try and feel the heartfelt gift and then hug your son, for he is alive and yours.  Merry Christmas.

CCF Neuro MD

[Kathy ([e-mail])]

Dear Doctor RPS:

Thanks for the note; I will gladly follow your advice.

If I may ask, do you feel that my son's condition is actually neurological? I have still been under the impression, maybe incorrectly, that it's neuroendocrine and cardiac related, per se (at least most likely). The reason I'm asking is that when Jonathan's problems all started, everything appeared to be cardiac related; therefore, I had posted in the Heart Forum. Since he does have heart damage, hypertension/hypotension, tachy/brady, the periorbital edema which could be related to renal hypertension, I had posted a few since we came from Mayo, and one of the docs requested I post a complete H&P on him so he could review what I now know. However, other readers have made a few "negative" comments about my posts, which were at this doc's request (he is on vacation right now and will answer after his return). I was trying to cover all the bases, and noticed that some of my posts have actually been deleted.

Am I doing something wrong? One reader told me that my son's condition is obviously neurological and I shouldn't post anything else in the Heart Forum, so I won't. I didn't intend to offend anyone, I am just concerned about Jonathan's heart, as well, especially since there are conflicting reports from all the docs at Mayo about his return to athletics.

Please let me know if you feel I have overstepped my bounds; it certainly was not my intention.

Thanks again for all your kind and considerate help.  I truly appreciate everything you have done.

[CCF Neuro[P] MD, RPS]

Dear Kathy:

Merry Christmas.  I promised myself that I would avoid the help line and just spend Christmas as it was meant to be.  But, as usual I decided to take a look at the postings to see if there was some sort of emergency.  Yours is not an emergency, but my heartfelt concern sort-of over-rided the mind (heart-mind interaction that all males have).  First, yes it might be strictly cardiac and/or endocrine but I don't think it is.  My feeling is that it is a system problem and likely involves the central nervous system.  Second, I would ignore the other postings who think your doing something out of the ordinary or not in keeping with the forum.  You should read some of the postings that have no relation to the cited illness.  Third, being sort of a neurologist/metabolic/genetic person, I think the broad spectrum of what your son has strongly suggests what I have posted to you.  Of course I may be off-base, but it needs to be addressed.  Wide swings of the autonomic nervous system usually suggests a systemic illness and not a single organ system illness.  If the blood pressure was the main issue driving the symptoms, one should see extremely high blood pressure with periods of near normal ones, no hypotension.  

So, don't feel like you have done a wrong by posting.

Sincerely,

CCF Neuro MD

[Kathy]

Dear Dr. RPS:

Your comments literally brought tears to my eyes, especially about "Christmas as it was meant to be."  Obviously, you have epitomized the true meaning of Christmas by still looking over the posts, whether for emergencies, or non-emergencies such as mine, and responding to we desperate people anyway. Let me tell you, I wish I could find a male locally who has the heart-mind interaction that you do!! I still want to give you a hug for being so very, very supportive and concerned for my son and myself.

As you mentioned yourself as a neurology/metabolics/genetics person, I wondered if you would be in a position to see my son. While Jonathan supposedly tested negative for CAH secondary to 11-hydroxylase deficiency, this and other types of "genetic" diseases have been mentioned, although that was the only one for which he was actually tested (to my knowledge)to date. It's such a relief to find an educated, caring physician who agrees with me that this can't possibly be "normal" for a 15 year old. Just in the last few days, he has lost more weight (he is now down 36#), but his pupils are more reactive to bright light; they are more dilated in the evenings. These DO seem like wild swings of the autonomic nervous system, sometimes somewhat quiescent, and more often than not, wildly erratic. I guess he is a mystery, but one I would really like to solve!!  Please let me know if you do see and/or treat adolescents such as Jonathan. I don't know what Mayo has in mind for us this time, but even though I have a very good job at the hospital, the medical bills are adding up, my ex-husband is of no help (in fact, a hindrance-ha), and we have no family to help, either. The hotels are getting very expensive, and we're going back up to Rochester one week from today with me having about 2 days of vacation to work with. Don't get me wrong, I don't care if I have to file bankruptcy to get my child well.  I'll go to the moon and the stars, and probably find all the stuff NASA keeps losing on Mars before they do!! After having lost my first son at 3 years old, Jonathan is literally my life. And he is so miserable without his athletics, poor kid.

Please keep in touch with me; I don't know what I would do without your help, guidance, concern, etc. It means so much when you feel so very alone. I think I told you before that I wish I could meet you; you are a truly wonderful, kind and considerate person and I am sure the Lord has shone his countenance upon you for helping me, and so many others. You certainly know and display the true meaning of Christmas, which is helping others and giving of yourself, especially in their time of need. God will smile upon you.

If you ever can, please feel free to e-mail me at ***@****. I would be more than happy to hear from you.

Thanks again, and God Bless you,

Kathy and Jonathan

[martie]

Hi Kathy, I can't believe how absolutely wonderful Doctor RPS is. I cried as I read the postings. This doctor is truly your best Christmas gift! The heart forum doctors really could learn something about compassion and interest from this doctor. I'm starting to wish my problem was neurological instead of cardiac! I',ll still be praying for you and your son and I'll add a prayer of thanks for Dr. RPS. Hopefully you will get some definite findings real soon. Luv and concern (and prayers) Martie P.S. What about the Chiari 1 Malformation thing that was on TV? Any possibility?

[Kathy]

Martie:

Isn't Dr. RPS fabulous??

E-mail me at ***@**** and we can converse without using the forum. I don't know about the Chiari I malformations; what I heard on Dateline didn't sound anything like Jonathan. For other interesting information on Chiari I and other forms of dysautonomia, check out ndrf.com (National Dysautonomia Research Foundation). Dysautonomia is what my beloved Dr. RPS suggests we pursue.  It's a fascinating website.

Hugs to you and Dr. RPS!

[Kathy]

Dear Dr. RPS:

Do you think there is any chance Jonathan could have one of those Chiari malformations? I am going to ask Mayo to repeat the MRI of his brain. I have read a lot of what amounts to conflicting reports simply as far as Jonathan's symptoms as it would relate to Chiaris.

Thanks again for your wonderful kindness!

[CCF Neuro[P] MD, RPS]

Dear Kathy:

It doesn't sound like your son has a Chiari I malformation.  But, the previous MRI showing the saggital cuts (where he looks like a profile picture) would show a Chiari I malformation.  This type of malformation, if symptomatic usually give headaches and if severe respiratory problems.  However, the myraid of problems that your son has would likely not be due to this.

I hope that things go well at the Mayo.

Sincerely,

CCF Neuro MD

[Kathy]

Dear Dr. RPS:

It's me again....

I wondered if you see patients at CCF. I understand CCF does not have the "round table discussion" situation of the team approach. Is that true?  What facilities are there for autonomic nervous system testing?

In addition to my intrigue with your consideration and insight into my son's condition, I have heard through the pheo support group about a number of excellent physicians at CCF who specialize in pheo, etc.

If this Mayo trip turns out to be another bust, and we would come to CCF, would you be able to see my son?  It would certainly mean a lot to me.

Please let me know when you have a chance.  I don't know how the facility works, except I know it's good--I used to work for a neurology group who had members that trained at CCF.

Thanks and God Bless!

[PW]

Just a side note, but the National Dysautonomia Research Foundation is located at ndrf.ORG, not ndrf.COM.

[CCF Neuro[P] MD, RPS]

thanks for the comment.

CCF Neuro MD

[Kathy]

Hi, Dr. RPS!! We got back from Mayo Friday night. They had us see the attending endo, a nephrologist (no help at all) and a really nice neurologist (I believe it's spelled Burkholder). He did order the paraneoplastic work-up but they refused the work-up for Fabry's-go figure-said his symptoms did not justify that testing, at least not now. In fact, they only did the para-neoplastic because he asked me if I would give him a totally honest answer to the question of if I would sleep better at night were this testing ordered...of course my answer was yes, and so he was very, very compliant and considerate. He put Jonathan through the normal neuro eval in the office, and then ordered the work-up. Interestingly, the results from Kennedy-Krieger came in just before we left and indicated no abnormalities other than salicylate metabolism. What does that signify? My son has never taken aspirin, but I'm not familiar with what this means. Mayo repeated that test, also; they ordered everything you spoke about except the Fabry's.

Also of interest, they did perform an MRI of the abdomen because they thought the MIBG scan from Chicago indicated a mass lesion on the left adrenal. However, the MRI did NOT show anything except the endo asked if they gave Jonathan contrast material to drink before the procedure. They didn't, which Jonathan told him (nothing to drink nor an IV this time) and the doc was curious because he said Jonathan's belly looked like it did have contrast material in it. He said he would talk to the radiologists about it. They ordered a 48 hr. stool collection to see if he is eliminating too much fat (doubt) to help explain the now 40# weight loss. His pupils were reacting better to light; however, they are still massively dilated and unequal. I told the neuro that, meaning no disrespect, I still didn't buy that it would come on him literally overnight and be "normal" for him; he tended to agree. They all stated he presents with a "very impressive" list of symptoms, and hope to come to a conclusion.

They had Jonathan taper off the Lopressor, as they felt it might be interfering with testing, so now he is on no blood pressure meds and I have to take it twice daily to watch. We have to be there again on Jan. 24th for autonomic testing at 8:45AM, then he does have an appointment the next day with Dr. Phillip Low of the Autonomic Dysfunction Center, then returns to see the ped neuro and then the endocrinologist. We seem to have much more of their attention this time, which makes me feel better, and they really were much more caring and understanding of my fears, except for the nephrologist, who was, at first, VERY arrogant and rude until I broke down in tears.

I don't know why they refused the testing for Fabry's other than stating his symptoms don't mimic that disease, and referred to his lack of muscle weakness. Oh, well, I did try.

Let me know your thoughts on all this, and as soon as we do have results, I'll let you know. Oh, they also performed a 24 hr. AEKG to make sure there are no arrhythmias, as they may return him to sports eventually, but the nephrologist said he may never be able to play football again because of the heart damage. They also told me that last time we were there, in November, the autonomic testing indicated that his left foot doesn't sweat properly, even when stimulated, and that gives them a clue. Otherwise, they seem to be at a total loss. The nephrologist stated that it's always possible that Jonathan may totally outgrow all of this when he gets to be 18-19 years old.....he also said that he needs to convince the endo that there is absolutely no possibility of a pheo (the endo still hasn't given up on that thought yet completely), and that comment annoyed me.

Thanks again for all your help and kindness. I look forward to hearing from you soon!!

God Bless you,  Kathy

[CCF Neuro[P] MD, RPS]

Dear Kathy:

Sorry that the trip to Mayo was not more enlightning. The idea of Fabry's was an outside chance that the dysautonomia was related, as it is X-linked, becomes manifest in the teen-age years, and can give parasthesia problems in the distal extremities.  Anyway, it was a outside chance only and since I have not examined your son, I wasn't sure if there was a chance.  Did Dr. Kelly (Kennedy Krieger) say anything about the urine organic acids?  He is usually very good about giving an indication.  Did you collect the urine after a overnight fast?  The salicylates are found in some medications beside aspirin. I was hoping that the urine organic acids would give an indication of a metabolic disorder, such as a mitochondrial disease.

Let us know about the results from the tests at Mayo.  Hang-in there.

Sincerely,

CCF Neuro MD

[Kathy]

Dear Dr. RPS:

SO GLAD to hear from you again!!!

The urine organic acids we sent to Kennedy-Krieger, in the comment section at the bottom of the page, stated "no abnormalities other than salicylate metabolism." To be honest, I didn't see Dr. Kelly's name on the results. That was absolutely all it stated; further up on the page it had numbers, etc., that of course would mean nothing to me. It required a 24 hr. urine; therefore, Jonathan ate a bit of fruit and milk for lunch, and did have a small dinner, but to be honest, I don't remember now what he ate. There were no instructions sent to us from Kennedy-Krieger as far as foods to avoid for the test; in fact, it didn't even actually state that a fast was required; we just did it anyways, and Jonathan isn't eating much at all. Mayo did repeat the 24 hr. urine for the organic acids again (in fact, they ordered EVERYTHING you recommended except the test for Fabry's). Even their 24 hr. urine did not state to fast, nor to avoid any certain foods for the test. It just had the very smelly preservative in it. We will get all the results from our Jan. 3-7th visit when we return next week. We would have had to wait from Friday the 7th until Tuesday the 11th for all of the results to be in, and I couldn't afford to continue in the hotel that long, knowing we were going back in two weeks.

I did feel much more encouraged this time; they seemed more determined to figure out what's wrong. And I understand it usually takes 1-2 YEARS to get into that Autonomic Dysfunction Center, but apparently, when Dr. Low saw Jonathan's information, he was intrigued enough to accept Jonathan right away, as soon as he was at least 2 weeks off the Lopressor. So, we leave on Sunday, the autonomic testing is Monday, and we see Dr. Low, then Dr. Burkholder, then Dr. Zimmerman. If nothing else is ordered, we will head for home on Wednesday. They all stated Jonathan presents with a "very impressive" history.....he has certainly peaked their interest.

I can't thank you enough for following up with the posts. Hopefully we will find more answers this time...his weight loss continues, as does the lack of appetite. His blood pressure, even off the Lopressor, was running normal to low (a sample of readings over the past 1-1/2 weeks:  118/60, 120/70, 130/68, then up to 140/90, then down to 120/62, then up to 150/92). He is still more often than not tachy at over 110 bpm. But I have occasionally found his pulse at under 50, as well. What a weird turn of events. He has also almost completely stopped perspiring, no matter what he is doing, even after 250 push-ups in a row, followed by 200 sit-ups in a row. I know he needs to perspire to regulate body temperature and rid himself of toxins. It seems like everything is taking a 180 degree about turn!! His pupils are still very dilated, especially in the evening and/or if he is upset or excited. They respond better to light during the day (and I say better with trepidation, it's still not nearly a "normal" response, just somewhat improved), but they are also still unequal. His skin becomes more and more greyish during the evening, and he now frequently has dark smudges under the inner corner of his eyes, with or without the periorbital edema. He also admits that he is feeling more and more tired than usual.

This boy is a medical mystery, is he not?  Thanks again for getting back to me; I knew you would. You have been so very kind and considerate, and interested.  

I'll let you know everything we find out; just keep an eye on the posts for the info. We're getting awfully far down the bottom of the page, and I have not been able to get into the Forum to post a new question since it cuts off earlier now. You can always e-mail me personally (although you're probably not supposed to...) at ***@****.  

God Bless and thanks again for EVERYTHING!!

Your devoted friends,
Kathy and Jonathan

[CCF Neuro[P] MD, RPS]

Dear Kathy:

Let us know the results.  If things work out where there are still alot of loose ends, we would be happy to see you two.

Sincerely,

CCF Neuro MD

[Kathy]

Hi, Dr. RPS!! We ended up at Mayo for another week, so here are the results, starting with those from our visit at the beginning of the year:

Mayo's urine amino acids were "somewhat elevated"; the ped neuro was VERY concerned; the ped endo was not and nothing further was done there. Isn't that a test for mitochondrial disorder? The 24 hr. AEKG indicated a few PVC's and a run of SVT. The 48 hr. stool collection for fat (requesting an intake of 100 gm/day)indicated that on 76.5 gm. (which is all we could get into Jonathan), he eliminated a little over 12% right back through. He had lost another 2# in the 2 weeks since we had been there last. The repeat catechols, etc., were entirely normal. All the other tests for neuroendocrine tumors, paraneoplastic, etc., were apparently negative. Remember, they had taken him off the Lopressor at the beginning of the year.

On this current visit last week, the autonomic testing, off Lopressor, indicated no response in the left foot from just above the ankle to the toes, and from the elbow to the fingers in the right arm. Tilt table testing, they said, was normal; however, on the monitored left arm, when they raised him up, his BP went to 150/100 and HR was 130. They manually checked BP on the right arm (always the lower of the two), and the highest reading was 138/96. That doesn't really sound normal to me, but of course I'm not the doc!! They had to wrap his hands because they were so very cold (which is frequent in Jonathan). Bloodwork including CBC, bleeding time, repeat catechols, lactic acid and all kinds of other stuff were reportedly negative. Stool for O&P, fecal leukocytes negative. Because of the excess fat in the stool earlier in the month, they felt sure Jonathan had celiac disease, pancreatic insufficiency, Chrohn's, etc., so they ordered an EGD and biopsied the esophagus, 2 areas in the stomach, and 2 in the small bowel. Path results indicated only "moderate inflammation." A 7 hr. gastric transit time was also done, and showed that after 7 hrs., less than 26% of the food was entering the small bowel, so they said that dysmotility would partially explain why he doesn't feel as hungry. However, they had absolutely no explanation whatsoever for the weight loss. The autonomic neurologist, a great woman doc, said that unless there is a pheo which is really small and doing a great job of hiding itself, then the dysautonomia has probably been caused by the Epstein-Barr having caused his autoimmune system to attack the CNS, resulting in this mess.

At our "wrap-up" visit with the gastroenterologist and the ped. endo who is running his case, they told us there is no answer for the weight loss, and that he HAS to get more fat into himself, drink Ensure (they don't want him to take oral vitamins secondary to the inflammation), and be careful about the weight loss continuing as he's obviously not absorbing enough protein, calcium, vitamins, minerals, etc., and is literally malnourished, even though the food he eats is really good and healthy food. They said if this doesn't rectify itself or at least become stable, he could end up too weak to get up, and bones could start to break. They also told me to just watch the BP, and put him back on Lopressor if it goes to 130/80 or higher.

I know they have exhausted everything there is to test for, and I have to accept that his work-up has been very, very thorough. They were so determined to figure everything out, and I do feel comfortable that everything necessary was done. I'm just worried
about the amino acids, the fact that he has been returned to all competitive sports with the weight loss continuing along with the PVC's and SVT, let alone the fact that I don't know what in the name of sense to do to stop it, you know?  He still has the periorbital edema, more marked in the evenings, he still has the orange palms and soles of the feet, and the flushing, he develops a dark patch on the inner corner of his eye similar to dark circles when tired, but just on the inner lower corner of each eye, and that's relatively new, also. I realize that's often kidney related, but I don't think they checked his renin level this time off the Lopressor. Prior to the Lopressor, it had been as high as 10.3 (normal was under 3). They had told me the Lopressor would artificially lower the result.

That's all we have....now it's just wait and see what happens. No test for Fabry's. Jonathan is so excited about being returned to football, basketball, baseball and weight training; I just hope this doesn't backfire on us and that he gets worse, or that he is so disappointed to have it all taken away again. A lot could happen between now and the late summer when football starts.

Please let me know your thoughts when you have a chance.

Thanks again for all your help.

Your friends always,

Kathy and Jonathan

[CCF Neuro[P] MD, RPS]

Dear Kathy:

Sounds like this trip to Mayo was better than the last time.  I guess one could assume that the ebstein viral infection could produce some of the symptoms in Jonathan.  But, I guess I am still concerned that the effects have been so widespread.  You didn't mention, but did the heart return to normal on this visit (no LVH, RA elargement)?  The abnormal amino acids, I bet that it was non-specific but do you have the results?  If so, look up the values for alanine and lysine.  If you divide the value of alanine by lysine (alanine/lysine ratio) what is the value?  Are there some elevations in branched chain amino acids?  Also did you say that they looked for celiac antibodies so they ruled out Whipples (he didn't sound like he ever had this but it can give you hypothalmic dysfunction but usually other things like dementia which he doesn't have)?  I think that I mentioned that mitochondrial diseases can give you a nonspecific picture of symptoms.  The abnormal amino acids would be suggestive (maybe) of this type of disorder.  However, usually we see something on the urine organic acids and Dr. Kelly is usually good at suggesting that something metabolic is going on.  

Let us know some of my questions and see how he does.  If he isn't really getting better, let us know and we would be happy to see you two.

Sincerely,

CCF Neuro MD

[Kathy]

Dear Dr. RPS:

So good to hear from you; I feel better already!

To answer your questions, there have been no additional or repeat studies done on Jonathan's heart, at Mayo, since our visit in November. So, I have no way of knowing if anything is repairing itself to date. It was in November that his BP and HR went too low, and now, for the past approximately 3 weeks, they have been normal, even shortly following exertion (he has been allowed to return to weight training, sports conditioning, and the sports themselves when the time comes; currently, baseball).

As far as the amino acids; there was a huge, and I mean HUGE, difference of opinion between the ped. neuro who ordered the studies, and the ped. endocrinologist about the results. The neuro was VERY concerned and felt more tests should be done, but told us that (as per Mayo custom) the endocrinologist would order the "further studies," whatever they are, and I don't know what they are. He told me to be sure and ask the endocrinologist to order the studies. Well, the endocrinologist then disagreed, said the elevations were not significant enough to warrant further investigation "at this time." So, I have to either wait for the wrap-up letter which has all the results in it (which they assured me I would receive), or follow Kev's advice above and simply request ALL of Jonathan's Mayo records for my own use.
Dr. Kelly's results (although his name was nowhere on the results) stated normal except for salicylate metabolism. It was very obvious to me that the Mayo results were MORE abnormal. To be honest, Mayo, I feel, did a more complete test. I am not knocking Kennedy-Krieger, but I firmly believe that either
1) we were not sent the proper paperwork; there was not even a mention of fasting or avoiding foods, etc. OR
2) the hospital here did not properly prepare the urine; there was no preservative, etc. I don't have a lot of faith in these values for those reasons only, and part of the reason is that Mayo obviously came up with much more in the way of abnormality. That Mayo neuro was REALLY concerned, and it is very obvious that he truly cares about Jonathan, as well.

Yes, they did draw blood for the celiac antibodies and performed the EGD with the 5 bipsies and no celiac, pancreatic insufficiency, Crohn's or IBS. However, Whipple disease was not mentioned and I have to look that one up. Just "marked inflammation" with no reason give to me as to why.

I feel a totally mixed bag as far as Jonathan goes. He started finished driver's ed this weekend AND started his job at a local theatre complex, he has pitching lessons, Advanced PE with weight training 3 days a week DURING school, weight training AND baseball conditioning (running, etc.) 4 evenings per week AFTER school. By about 7PM, he does look VERY pale and the periorbital edema becomes more marked. He has lost 2 lbs. since returning from Mayo on 1-29-00. I am trying to ply him with Ensure high protein, carb and calorie (the stuff IS nasty); we're filling him with fruit and juice shakes, but the appetite is not going up whatsoever.

I am going to get the Mayo records one way or another, in letter form or by requesting a copy of his entire work-up from day 1 to current. Then I can see for myself what the "values" are of all the tests. I do feel comfortable that his work-up has been rather exhaustive, but don't feel comfortable with the docs have such a huge difference of opinion over something as apparently important as these amino acid results. Maybe the EBV infection led to the autonomic dysfunction (would make sense, even with the delayed transit time from stomach to small bowel), but NOT the weight loss. And of course we have totally blown the "theory" of essential hypertension. But how do we explain the periorbital edema, the pallor/flushing/pallor/flushing.....why is too much fat, protein, etc., going straight through him and into the stool, and what do we do for that?? No answers.

I'll keep letting you know what develops further. One doc has been reading my posts here and in the NDRF forum, and he feels that everything points to neurofibromatosis since Jonathan does have a few cafe-au-laits, and some axillary freckling. However, he does not have lisch nodes in the eyes, nor any fibromas, at least not yet. I thought that was interesting, since I had Jonathan seen for NF when he was 5 years old. You never know what's working on these kids. I hope and pray he will be safe with the sports. He's so skinny and his color is really awful, especially in the evenings. He still has the dilated and VERY unequal pupils, but they are responding better to light. Guess we blew the theory that it was all "normal" for him, as well!! There is a little bit of satisfaction in feeling so distraight about being told everything weird is "normal" and then finding it isn't, and that your motherly instincts were right, you know? I hate it when they act condescending to me. I know my son better than anyone. Of course, you are one of the few who understand.

I think I had asked you once before if you actually see patients such as Jonathan if we would come to CCF. Please let me know as it would be another consideration. I would wholeheartedly trust you.

Thanks again for being so wonderful and concerned for my boy. It means the world to me, and I wish I could shake your hand.

Love and hugs,

Kathy and Jonathan

[Kathy]

Dear Dr. RPS:

I guess this is the last post I'm going to be able to make due to the time contraints of the Forum. At any rate, if there is anything else you would like to share, or if you would like to follow Jonathan's "situation" shall we say, please feel free to e-mail me personally, if you are able, at ***@****. I would be more than happy to hear from you, or respond to any questions you might have. Jonathan would make a very interesting case report for research, I'm sure.

Thank you for all your input. You are a wonderful person and I shall never forget your kindness to us. Sorry we won't be allowed to communicate anymore. So many people have contacted me by personal e-mail that have been following our posts, stating they have learned so much from you, and from Jonathan's situation. You have a real following out there, and you should be very proud of yourself. You are what a physician should be. And sometimes that is hard to find these days. You will definitely reap what you have sown, and your future will be very promising, I am sure. If Jonathan does continue to worsen (he looked terrible last night; I was afraid he wouldn't make it through the night), we may very well come and look you up at CCF.
Good luck to you and try to keep in touch, please?

Thank you again and I do hope to still hear from you.

God bless and keep you, and always provide you with the healing hands, and the kindest heart.

Forever in your debt,

Kathy and Jonathan

[enough already]

Do you need to keep addressing the doctor on this site in such a way.  It is rather sick to see someone address a doctor with love and hugs.  That is not in the form of a doctor patient relationship.

[To "enough already" from Kathy]

When someone goes to the extent this physician has to help my son, and taken such an interest in a child he doesn't even know, out of the kindness of his heart, he deserves every good thing that can come his way.  I am deeply grateful for his generosity towards us. And I would gladly hug ANYONE who could help my son. Have you ever had a sick child that stumped the medical world? Have you ever had your first child die, and then had to watch all of this happen to your only living child? I have love in my heart, which God gave to me, and deep appreciation for this physician's kindness. What is your problem? I would appreciate if YOU would mind your own business and let me try and find answers to get my son well. I hope you feel good about yourself! Your comments are disgusting. Learn to love, learn to be grateful.

[Shocked to "enough already"]

I can't believe the posting I just read by you! Here is a mother who is desperate to get help for her precious son and someone like you has to come along and put more pain in her heart! If you will take notice, the doctor had enough compassion and interest in this case to get on the forum on Christmas Day, to personally voice his concern for her son. He also reassures her that she is doing nothing wrong by posting!When a doctor shows this much interest and compassion, it's only natural for the desperate mother to feel grateful enough to want to give that person a hug! ( something you obviously don't get enough of!) It's also understandable that she would seek as much help and support from that doctor as possible, and anyone else who is willing to help and reach out! Gee, I noticed in one of the postings she ended by saying God bless you. I wonder what she's really suggesting.You obviously aren't a God fearing individual. You better hope that you don't land up in Kathy's shoes someday. Life takes unexpected turns and you never know what's in store for you. I bet if you ever needed some kind words, Kathy would be the first one to be there for you! Go to church and ask God to open your heart because something in your life obviously closed it! NEWS FLASH-God didn't appoint you JUDGE on this earth! ANd neither did this forum or Dr. RPS! Crawl back in the hole where you came from and clean up your dirty mind!

[enough is enough]

Did I say anything about Religion?  I DON'T THINK SO!  I got to church every week and pray every night, so you obviously don't know a thing about free will.  I just said it was making me sick to see "kathy" addressing the doctor with love and hugs, and e-mail me, I can't see someone addressing a doctor that way.  Also the doctors on this site are not to e-mail you, so why keep asking?  Shocked you must be Marti?

[C J]

To Kathy and Jonathan- don't give up.  Someone has the answer.  It might very well be at the Cleveland Clinic.  I pray you find it.  I pray you go there.  It is one of the leaders in the Neurosciences, not to mention Cardiology.  I've followed your post from the beginning and have wept for Jonathan.  Your son deserves the best.  "A mother is a mother still, the holiest thing alive."

To "The Dynamite Doc from Cleveland"- You live up to that name for sure, otherwise I would have never dubbed you with it.   On call 24/7.  Yes you are, and physicians like you are what society needs.  Keep up the wonderful work.  We all love and respect you.

To Shocked- my sediments exactly.

To Enough- live up to your name.  Do a 360, and learn a little dignity, and from that dignity will spring respect and from that respect will come love. But as you are?  I can only say... go to, and stay put.  

C J

[To "enough already" from Kathy]

I would still appreciate if you would mind your own business and allow me to help my CHILD. We have a bad situation on our hands and this doctor has helped us greatly. If you have a problem with that, it's yours, not mine. I have over 50 e-mails from people who have read this information on my son, ALL supportive and some offering their own experiences, with no mention of anything improper. In fact, each and every one of them has mentioned how wonderful this doctor has been. Why are you the only one who tries to sully a physician trying to help a desperate mother? Talk to God. I do.

[to CJ from Kathy]

Thank you for your support. It means so much to me, especially after I have been "attacked." I will keep trying, and if it means going to the other side of the world for Jonathan, that's where we will go. And you know what? I could hug you, too, for being so kind!!

[SURFING KING TO ENOUGH ALREADY]

What is your problem bashing this woman for trying to help her kid? You ought to be ashamed of yourself. You talk about going to church and praying every night---where are your prayers for an obviously terrified mom, and an obviously very good mom, for her only living kid who seems to be very sick? From following the boy's information, it sounds like they've tried about everything and gone to the best. I would be scared if it were my kid, too. Have some compassion. And from the sounds of your comments, I think I've seen rude posts from you all over these forums. If you have a problem, like Kathy said, it's yours, not hers. She needs help. The point of this forum is to seek medical information and get emotional support. Well, Kathy, we support you. Don't let one extremely bad and rotten apple spoil the whole bunch, girl!

You go for it. The rest of us WILL be praying for you and your son! Count on it.

-A Concerned Friend (even if I don't know you-or does that make me sound like I'm doing something "wrong" too?

[Kathy to Surfing King]

I can't believe how great your support for Jonathan and I was! It really means a lot. Jonathan surely has a tremendous amount of medical problems, and obviously his disease is rare, and hard to diagnose. I never meant anything "suggestive" to the physician; I've worked with docs so much for 18 years, you develop a mother/physician/patient relationship and I see nothing wrong with expressing my feelings and thankfulness. I am a very strong and loving person, God has blessed me with that or I would never have been able to endure Bryan's death at 3 years old, and this awful situation with Jonathan, who had always been so absolutely perfect. We may end up at Cleveland Clinic some day, and when that doctor told me his areas of interest and expertise, it is exactly what Jonathan needs. That was why I asked if he himself could see him. I don't have any way of knowing who this fellow is, whether he's a resident, med. student, full fledged practicing physician, or whatever. But he sure took an interest in Jonathan, and in me because he felt sorry for me.

At any rate, thanks again and guess what? I could hug you, too, for being so kind. I can't tell you how you and CJ have made my day as I became very distraught over the nasty comments from "enough already".  Of course, the comment to you about the hug could get me in trouble, but I don't care. Carpe diem!! We all need to be thankful for every day God gives to us, for it is a blessing. Right?

Take care and THANKS!

[Karla]

I aggree with enough completely.  Getting medical advice is one thing.  Wording the way you do is another. In your own words "I wish I could meet all of you who have been so helpful, considerate and obviously are researching to help me. I could kiss you!" and "Love and hugs,"  You can be appreciative without all of that.  I feel bad for you and your situation, and I hope your son gets the help he needs.  You might make people feel more comfortable by not addressing it the way you have.  Don't try to blast me with religion either, you should be asshamed of yourself for that.

[Kathy to Karla]

I am not in the market, with my son as sick as he is, to "make people more comfortable." What a ridiculous statement! This is a MEDICAL forum, not a group therapy session!!

These posts have been between a mother and a physician. And, by the way, a physician who has been tender hearted and kind and considerate and interested and helpful and a blessing to me.

My response to ALL of you would be to keep your noses out of my posts. If you're not part of the solution, you are part of the problem. I will NOT defend myself for being eternally grateful to someone. Why were you reading my posts about Jonathan anyways? To find someone who is desperate about their child so you can INSULT them? Shame on you.

I read all kinds of posts about problems that might be similar to my son's, on this website and many, many others. I have NEVER in my entire life, taken it upon myself to insult someone. It's not my business whether I think their questions or comments are inappropriate. I was not made their judge. What makes you my judge? Why should I base my questions and thankfulness on making you, or anyone else, "more comfortable?"  Does it make you "comfortable" to read about what my child is going through? Does it make you "comfortable" to have nothing better to do than make your nasty little comments?

And you know what?  I am not "asshamed" (spelling yours, not mine) about being thankful, grateful, by praying for help, or anything else. I am PROUD of my determination to refuse to watch another child die and suffer!!! Please go away and leave me alone. I have a sick child to take care of and I need help. I do not need you to judge me.

Furthermore, read the posts by the doctor. Read my responses to them. And pay attention. There is absolutely nothing more referred to than gratefulness. I have love in my heart for ANYONE who helps me. And if you have a problem with that, once again, that's yours, not mine.  Find yourself something better to do. Are you ill? Do you have a sick child? Why do you feel it necessary to butt into my posts? Did I ask your opinion? Did anyone else? Read CJ's message and "go to...stay put." Read the message from the other fellow about "bad apples." And from "Shocked."  My personal opinion is that we have some bored and lonely people who have nothing better to do than knock someone who is trying to do what is right, all the way around.

Leave me alone. Leave my child alone. Stay out of my posts and mind your own business. Thank you very much!!  It's people like you who spoil the Forum for the rest of us who truly NEED it.

[Kathy]

When I refer to all of you, it is specifically addressed to those with derogatory statements, not those who have been so kind and considerate and supportive. Jonathan's illness has been and is a living hell. I just fail to understand why human beings want to make it even worse.

Thanks again to all of you who have posted or e-mailed personally with your support. It means the world to me.

[I can't believe this]

I just got home from work a little while ago and logged on to the forum. I admit I have been following this boy's saga since it first began when the mom thought it was a heart problem and posted in that forum. Then people started posting some mean stuff to her. She had posted in this forum because a doctor had suggested something to her about neurology. And she was really getting help from the doc here. For the past few days this mom has been getting trashed by people. I don't get it. What is wrong with you people? Can't you read? This kid is really sick. This mom is scared. I read everything she said and I didn't see one thing wrong with a single word. She is smart and she wants to do everything for the boy. How can anybody be so small minded as to trash her for thanking the doc? If it was me and my kid he was trying to help, heck, I'd probably hug and kiss him, too, and I'm a dad!! She is right when she says she shouldn't have to defend herself for being so thankful that someone listened and acted. This guy had more than one person helping him research. She says she could hug and kiss them. SO WHAT? How many moms wouldn't feel the same way if they finally got some answers after trying for so long to help their kid?

All I got to say it, there but the grace of God goes each and every one of you who says something bad. Be glad it isn't your kid. And pity the mom whose kid it is. I know I do. And I hope every thing turns out alright for this boy. Shame on you. She is a good mom and a kind and loving one. You don't find enough of that these days. I say she deserves all the credit in the world.

[Martie to enough is enough]

You are so right! I'm proud to say I'm Shocked!Why don't you crawl from under your rock and give your true identity. Obviously you're one of the nuts from the heart forum! I had those posts removed by writing to the staff and I'll be doing it again to this forum but I'll wait until the week-end is over for some more people to comment. So glad to hear that you go to church every week. Too bad it isn't doing you any good! "let him without sin, throw the first stone!" MARTIE

[my two cents]

Sorry, trashers, but I gotta agree with everyone who supports this mom. You trashers sound like the same people who seemed to become jealous because the docs on the heart and neurology forums became so interested in the bizarre symptoms her son has.  I have worked with doctors for alot of years myself and you do develop this kind of rapport with them, especially the parents. I've done ER work and seen moms hug the docs when they make the kids well. I've also worked in pediatrics and seen plenty of moms hug the docs or kiss their cheek in thanks.

Like mom said, if you aren't part of the solution, you are part of the problem and you should keep your comments to yourself, unless they are related to her son's condition and can provide information. THAT is the purpose of the forum. The purpose is NOT to be a judge and jury. And talking about religion, read the post that says "there but for the grace of God." It is so true. Would you like to be in this mom's shoes? If you haven't walked in them, then stay in your own!!

Butt out of her attempts to find more help for her child and say a prayer instead of finding ways to trash someone who has already lost one kid, and could face losing another. Be thankful it isn't you. You ought to post an apology--both of you.

Good luck, mom---99.9% of us are praying for you and your son. Keep up the good work and don't let the spoil sports get you down.

[Give Me a Break]

I absolutely cannot believe what I am reading. How can you people talk about "religion" when you go after this poor mother? Have you read everything that is wrong with this young boy? Have you read that her first baby suffered and died? How can you attack her for being so thankful to a great doctor who, by his own posts, has been very tender hearted to her and caring? Moms respond to doctors like this. I know from my own experience. It's finally someone who listens to you. Moms knows their children best, and some doctors need to realize that.

Kathy, I want you to know you have my wholehearted support. And I'm sure you have the support of virtually everyone (except maybe 2 people) who has read about your son's situation. It must be devastating. I can't even imagine the terror. You are doing the right thing. And I am praying for both of you. I apologize myself for these mean and unsolicited comments. I feel really bad for you that you even had to be subjected to this, on top of what you are going through.

By the way, to the mean-spirited people--have you seen how long it's been since Kathy even posted anything? Her conversations with the doctor end, and you go after her like a pack of wild dogs. Go ask for forgiveness and keep your evil and dirty minded comments to yourself. It's obvious you don't have children, or if you do, have never experienced anything like this mom has.

Be ashamed. Be very ashamed. And Kathy, keep on keeping on. You are doing a great job and don't give up.

[Kathy to The Wonderful Supporters]

Gosh, I was really touched when I logged on this morning to see if I got trashed again!! It's very meaningful to have these messages of support and encouragement.  Thank you very much.

I also had 13 personal e-mails, all expressing support. Thanks to all of you, as well.

Things are not really getting any better with Jonathan. I don't think they actually getting worse right now, just kind of at a standstill.  As mentioned above, I haven't posted anything to the TERRIFIC physician for quite awhile because of the time constraints of the forum, but to those of you who have questioned now Jonathan is doing, things are fairly status quo right now. I am still researching other options, because it is obvious that he is far from being out of the woods. His coloring is something terrible, he has lost another 2 lbs. since I posted to the physician last, etc.

I promise each and every one of you who has been so kind and supportive that I will go to the ends of the earth to help him. I hope that if any of you have a similar situation, or know of someone who does, that this information on Jonathan might prove helpful. And if any of you have anything "helpful" to add, I would appreciate it, as well.

God Bless all of you who have been so kind.

[C J]

Kathy,

"It is often better not to see an insult than to avenge it."

Hugs and Kisses,

C J

[Kathy to CJ]

Thanks again, CJ. God has provided people like you, and so many others who have responded with goodness and kindness. And God provided Dr. RPS who suggested so many necessary tests. You're right, I have nothing to avenge. You're a real friend.

[Jane]

After reading the posts on this board I am almost asshamed to say I have to agree with the others that were posting concerning the context that this doctor was being addressed.  Not only calling the doctor your beloved, and love and hugs that they had mentioned, "Let me tell you, I wish I could find a male locally who has the heart-mind interaction that you do!!" and "Where were men like you wen I was 18 instead of 39??"

I do hope you find the help for your son that you are looking for.  I hope he becomes well again.  

Just for peace sake, this is a public board and people might take offense to the way you have addressed this doctor.  I can see it, as this is a medical board it should stick to that.  

I am terribly sad about the loss of your first child, and the illness of the second, but as a single mother, I wouldn't post about my ex-husband on a medical site, and respond to the doctor with such a manor.  

Good Luck to you, I hope you get the care for your son.

[Kathy to Jane]

And once again, I was not here to make anyone feel comfortable or uncomfortable. You also say you are almost "asshamed" (now YOUR spelling, not mine) to agree with others. I wish you would read through what the doctor wrote to me about the "heart-mind interaction" men feel, and writing to me on Christmas Day. I certainly did not take that in any other manner but the way in which he meant it, which was a caring attitude. My son who is sick ran away from his father's drug use and sales to try and help himself. That was a very difficult situation which could have contributed to his problems.

I have not posted anything to this physician since early in February. I think anyone who has anything negative to say should mind their own business. I care about this physician, whom I have, by the way, never met and undoubtedly never will, even though he offered numerous times to see my son and I. He is a good man and there SHOULD be more around like him. If that makes you uncomfortable, don't read about my child. I didn't write to the physician so other people could read about my son and cast judgement. I wrote to get help. And he did help, with the kindest words and concern which I am sure he knew would be exactly what a desperate mother needed. And he was right. All the tests he suggested were ordered, save one.

I am very proud to say that even though I have never met and probably never will meet this physician, he has had a profound effect on my son's and my lives and I care for him very much BECAUSE he is kind, considerate, caring, and, most of all, he tried his best to help us. He listened with his heart and worked with his mind. And for people he doesn't even know.....what more can anyone ask than that?  Maybe to have others who are not involved mind their own business and keep their comments to themselves unless they have medical help to add.

Now PLEASE, let me help my son.

[I Can't Believe This--Again]

When are you people going to leave this mother alone? It takes a big person to attack a mom trying to help her child. I am ashamed to read what you write to her. And you should be, too. Why are you reading posts if you are there to criticize?

Kathy--don't pay any attention. It's obvious to anyone with half a brain that your words to the doc were well intended and so were his to you. These people don't have a clue.......pay no mind to those with no mind, dear!! Hope your boy is doing alright. You have friends in 97% of us!!

[martie]

Obviously, this person is still too much of a coward to post her REAL name and is now trying to make it look like other people are on her side when this is all actually the work of one evil, jealous,attention seeking,irrational individual. She refuses to see what everyone else is posting in support of Kathy and her son and is di-secting every single word that Kathy has posted. Why doesn't she go back to the doctor's post on Christmas day and di-sect that? I don't understand why the staff on this forum isn't seeing what is going on here!

[my two cents again]

Gotta agree with you, Martie. Nothing said between the doc and the mom is out of line. She's desperate, he's trying desperately to help.

The purpose of this forum is to try and obtain information. It is not to judge. If you are not seeking information (and no one could tell me the stuff on this kid isn't fascinating, really unusual, and very educational), then DON'T READ IT. I know I have learned a lot.

Kathy, I'm sorry people can't keep ugly comments out of your posts about your boy. Just know that we who have the mind to understand, do understand. You have done nothing wrong and if the doc could respond, he'd tell you that. He is a great guy, and you are a great mom.

God bless you. I can't tell you how sorry I am about everything that has happened to your son, and all this trash talk as well.
Hang in there!! If I could hug you for your devotion and your love of you son and God, I would.

[Jane]

First, I am posting with my own name.  Second, I was not critizing.  I do agree that the doctor has tried to help Kathy, and I have read this post occasionaly through the time she first posted on the forum. I never said it wasn't educational.  I just read what the others posted and since it is a PUBLIC board, I have a right to voice my opinion.  I am not blasting anyone.  I feel deep sympathy for Kathy and for her teenage son.  I do know what it is like to have sick kids.  I also would go to the ends of the earth for my kids.  It just seemed out of context for the doctor to be addressed that way.  It is uncomfortable and I could see how others can take offense to that.  There is nothing wrong with speaking an opinion.  I have learned in my many years when someone takes a defensive approach, it usually means they are guilty?  You don't have to justify yourself to me, or anyone else.  So don't try to blast me for my opinion. I do hope you get the help for your son, and I hope it gets taken care of soon.  Also this may seem totally off the wall, but has anyone checked him for an eating disorder?  That can cause many things?  I know you said he was eating like a horse, but there is other ways they can get rid of their food.  I am saying this because a friend of mine has a 17 year old boy who started getting really sick when he was 15, loosing weight, heart problems, kidney problems, grey tint to the skin, and they couldn't figure it out.  Blood test were off everything.  They sent him to the Mayo clinic and he was even hospitalized for 2 months there.  After they were back home and he was still going down hill a local doctor said that he thoguht he had an eating disorder, he is very athletic, competive, smart.  If you haven't checked that out you might want to mention it.

I am sorry if I rustled your feathers, I just wanted to say I could see how your post could offend others.  Good Luck to you and your son.

[Kathy to People with Nothing Better to D]

The only problem is, I don't recall anyone asking for your opinion, nor anyone else's, unless they could add from their own experiences. I asked for the opinion of the physician, and I got it.

And once again, I don't care if I made anyone "comfortable" or "uncomfortable." You know, Jane, and anyone else who is on the smear campaign ifyou read the information in these posts, whether from me or from other people who are terrified, whether for themselves or their children, how can you be "comfortable?" Doesn't it make you rather "uncomfortable" to read how people are suffering and desperate?  It does me, and yet I have the common decency, no matter what I read, not to ambush someone for ANY REASON WHATSOEVER. The posts are between the physician and the person requesting help.

Yes, this is a "PUBLIC" forum. However, I do believe that by public it is meant that information posted in these forums are open to be READ by the public for their own benefit. I don't think it is intended to be read and then have people post nasty, belittling comments. When the staff reads the types of things you have written, and the types of things some of these other rather odd people have written, they will totally remove everything about my son and then no one can help. The staff does not condone, nor do they allow, the types of posts that you and "enough is enough" and whoever else add. YOURS ARE THE POSTS THAT CAUSE ALL THE INFORMATION TO BE DELETED. The staff does not allow you to attack the person who is communicating with the physician.

My son does not have an eating disorder. He loves food but can't digest it nor absorb what he needs from it. If you had truly read about HIM with concern, you would have plainly seen that in the postings "to the doctor."

And to tell you the truth, you didn't "ruffle my feathers." You and the others with demeaning comments made me and alot of other concerned, caring people downright angry. I haven't posted anything to the physician for weeks. And I have simply requested that people who have nothing to add stay out of my information.

Walk in my shoes and then you have my permission to comment all you want. Until then, I don't care if anyone is offended. And I certainly don't feel guilty that God put love in my heart, especially for a wonderful, kind, considerate and tender-hearted physician who truly tried to help. If you and any others have a problem with that, then you know what? I would suggest you get yourself some serious help. And thank God you are not in my position, nor are your children. Picture it, one dead, the only other living one a medical mystery. Thank your lucky stars you aren't in my position!! And please, all of you, find something better to do than worry about being "comfortable" or "uncomfortable."

Now that I have voiced MY opinion, please, once again, leave me alone. Mind your own business. Go away. Whatever. Read about someone else besides my poor child. But don't attack them either. That IS NOT THE PURPOSE OF THE FORUM!!  I have done nothing wrong and I appreciate everything Dr. RPS has done.
He has been a true Heaven sent blessing to us.

[Another Interested Reader]

I haven't been in the forum for awhile. In fact, the last time I had read information about this boy was when he and the mother got back from Mayo Clinic the last time. I see a lot has changed since then!!

First of all, this mom requested help from the doctor. I see nothing wrong in anything she posted. In fact, I see gratitude, thankfulness, appreciation, caring, but most of all, I see desperation. I lost a child at 3 years old. I also had a second child who became sick and for 4 months no one knew what was wrong with him. When the doctors found out what the disease was and offered us a possible cure, I will be the first to proudly admit that I hugged him, and I kissed him on the cheek. My husband put his arms around this doctor and hugged him, with tears flowing in thankfulness. I have hugged him many times since when we have been in for follow-up visits. I have also hugged the surgeon.

Unless you have been through the same thing, you have no right to speak or criticize. Kathy is right about not caring whether you are UNCOMFORTABLE. If you are COMFORTABLE reading what she and her son are going through, then you are sick people. I can't imagine what it must be like to be going through this for so long and still not know with 100% accuracy what you are dealing with.

Kathy, I, too, am sorry for the ugly comments made to you. My heart goes out to you and your son. I hope and pray all goes well. You should be very proud of yourself.

[SURFING KING]

For crying out loud, will you people with nasty minds and nothing better to do please knock it off!!

Give mom a break. She hasn't posted to the doc for a long time and yet you people with nothing better to do just can't let it rest.

PLEASE!! Leave her alone and let her get her kid well. She deserves your pity, not your wrath.

[To Kathy]

Haven't you attacked before on other forums?  Do you have anything better to do, Like get your son some care?  If my child was sick, I wouldn't have the time to sign on the internet, much less keep posting flames.  Rules of Netiquette (the internet equivalent of a shouting match) When one encounters a flame war, be prepared to witness a cyberspace version of the grade-school playground, actually much worse because grade school children won't devote as much energy to getting the last words as some Internet flamers spend.  

Back Away, do the smart thing, if you have been offended.  Don't keep it going, let the site be what it is supposed to be used for.  Generic Answers to Medical Questions.

[Kathy to the Unknown Person]

No, I have not attacked anyone in the forums. I truly don't even understand your comments and questions. My comments to others have been regarding the National Dysautonomia Research Foundation for neurological questions.

I don't quite understand your comment, either, about "getting my son some care." What do you think I have done and been trying to do? My son has stumped Mayo Clinic! And I took him there for 4 weeks, putting him through painful tests and procedures. I research everything I can to help come up with answers myself. I don't know anything about internet flame-throwers. I spend time on the internet trying to find others with similar situations in an attempt to put 2+2 together and come up with a 4. I am desperate. I watch him decline every day of my life and it is literally killing me to watch this happen to my second son. I've already done it once.

I have tried everything within my power. I think your comments are cruel, ill-advised, and rather sick. You can take your "Netiquette"-a term I am unfamiliar with, and keep it. I just want help. If you can't see that, then open your eyes and leave me alone. I didn't start all this.....I asked for help from the physician, and I received it. I really don't understand for the life of me why people have a problem with that. Go away, please? I would like to continue to read this forum, among many others, to see if anyone else posts information that would help. Instead, I also see myself getting trashed, and now for something I didn't even do? I have better things to do, yes, than post nasty comments. Try it; you might really like it.

Now please, for the love of God, leave me alone!! I have a sick child for whom to find help!!

[Another Interested Reader-Again]

I absolutely can't believe how you people won't stop picking on this mom!!! You ask her if she doesn't have anything better to do, like get her son some care? What in the heck do you think she's been trying to do? Four weeks at Mayo Clinic? Test upon test? Weeks at Chicago hospitals? And still no clear cut answers?

For God in Heaven's sake, give the woman a break!! I can't even deal with these horrible comments to this pitiful mother anymore. And you wonder why she answers? It's disgusting and downright blasphemous what you are doing to her.

All I can say is, I hope this is what makes you feel like BIG bad human beings. Because you are NOT. Shame, shame, shame. This is the worst yet.....to suggest she get her son some care. Wow-I admit I am absolutely stunned at this arrogance. Tops anything I have seen in a long time!! Hope you feel really good about yourself because others, like me, think you are an idiot of the first order. I hope the doc is reading what you are doing to her.

[martie]

Kathy, what you've got to realize is there are thousands of people on the internet these day and only a very small number is being cruel to you. Please remember that the majority of postings on here are in your favor and only a few are from the one who should post his or her name as "*******!!!!!!". And don't let this ******* make you feel like you owe any explanations as to what you"re doing with your time. Any idiot would know that the reason why you're even on this forum is to seek help for your son. Sometimes on this earth, creatures do crawl from under their slimy rocks.Eventually they either go back under or they get swallowed by their enemies! There is strength in numbers so get your strength from all of the people  who are supporting you and don't let the minority drag you down to their level! And I don't blame you for responding to their attacks! They keep provoking it, not you! I keep saying "they" but it's most likely a "she". Hang in there, Kathy, and instead of feeling discouraged by the "*******", be light hearted that so many people genuinely care about you and Jonathan. Love and peace to you both. MARTIE,your friend always. Watch the attack on me now!!!!!

[Give Me a Break]

Well, if this doesn't bet them all!!  Attacking the mother again, saying she needs to take care of her kid? What are you, a sociopath? What in the name of sense do you think she has been trying to do? Can you read the volumes of information posted here? This boy's work-up has to have cost close to $100,000!!

I don't even want to read the **** you people put in this forum anymore. I have been interested in what is going on with this boy since the beginning, but I can't abide the way you treat this poor woman.

You people ought to be very ashamed of yourselves. I am ashamed to read what you write. I am ashamed there are human beings out there like you. You disgust me. It is obvious you have WAY too much time on your hands to be able to go after the mother of one dead child and one sick child and then try to blame her for everything.

Go beg the Lord for forgiveness before it's too late!!!

Mom--I apologize for these "people."  Good luck to you and your son. Keep up the good work. Those of us who are "normal" do care and wish you the best. You are doing a great job.

God bless you and your son.

--Someone who cares

[Thought I'd ask]

Shouldn't Jonathan get a free trip to the Cleveland Clinic for tests as Mom's reward for having the longest post in the history of this forum?

[another generic reader]

Did you ever think to drop it?  What is with the name calling Martie?  I thought you were above that.  If you didn't want your question to be open to the WORLD, than you shouldn't have posted it on the internet.  "mind your own business" you say, well don't post on a Public board!!!!!

[Kathy]

If this is the longest post, it's probably because the physician was trying so hard to help my son. He asked for additional information I cannot even provide due to the time contraints. The rest of the posts are simply attacks against me. I honestly don't know why. I am trying my best to help Jonathan and he goes downhill every day. It is very difficult to watch this happen to your only child. Then I got "attacked" so to speak, and many people have posted supportive messages, and then attackers have responded, and so have I. I don't consider that my fault. I don't know you people, nor would I have ever considered attacking you if you were in my position. I am desperate for help and can't seem to find the answers to my son's illness, and neither can Chicago or Mayo. I don't know what else to do or where else to go. Funds are running out. I don't think we deserve a free trip to CCF; I don't understand that statement.

To the other party: I wanted my questions about my child open to anyone, whether it be a physician or a layperson, who might have some answers, insight, suggestions, personal experience, etc., to share with me so that it might enable me to come up with some answers. Is that so much to ask? I just didn't ask to be attacked for something misunderstood. The posts were between myself and the physician. If anyone could add helpful information, I have and will be appreciative and thankful. That is the purpose of the forum. I don't think the forum was intended to have people attack someone who is desperate for help and will seek it from any avenue necessary for the sake of a very ill child. Try to understand how difficult it is for no one to be able to find an answer and help him. He is a wonderful young man with his whole life ahead of him and it's not fair that all this happens, and we spend so much money, time, effort, pain, and can't find anyone who can figure this out completely. Understanding and help is all that is asked for.....not criticism and ugly comments.

I cannot control what others say. I didn't want anyone to respond to anything here but the physician, and anyone else who might could offer help. That is the purpose of the forum, or so I thought. But I think a physician who e-mailed me personally after reading this forum, and who is trying to help me as well because he is interested and perplexed, said it best: "When people haven't been in your position and are jealous of your knowledge and dedication to your child, consider the source and forget them." Good plan.

I never intended to bother anyone, offend anyone, etc. I just desperately need help and truly don't know where to go or what to do. I don't have unlimited financial resources, I am a single working mother, but I am scared to death, and very thankful to the physician, and the literally hundreds of others who have tried to help me. Why is that so hard to understand? I could certainly empathize and sympathize with anyone else in my position. Why attack me? I don't understand what it proves.

[to thought i'd ask]

It takes a big person to now make lousy comments about a sick kid. How can you live with yourself and insult this child.

[to though I'd ask, from a generic reader]

I don't believe anyone made lousy comments about a a kid, much less a kid.  Are you refering to the name Martie was using?  I know she kept using a word that I can't even bring myself to say.

[to though I'd ask, from a generic reader]

I don't believe anyone made lousy comments about sick kid, much less a kid.  Are you refering to the name Martie was using?  I know she kept using a word that I can't even bring myself to say.

[C J]

I think it was Shakespeare.  From "The Tempest"... "Misery acquaints a man with strange bedfellows."  We supporters and sympathizers can only say, "This one is the worst."

I say to all dedicated supporters... that in taking revenge on this (these) idiot(s), we become equal.  If we ignore the idiot, we are far more superior.

There's this old English proverb that keeps attacking my mind.  It goes like this:  "Vengence is a dish that should be eaten cold."  So, to all supporters and sympathizers, I beg for a return to warm dedication and let this cold fish rot in the sun. - C J

[to thought i'd ask]

No, I didn't mean the word Martie said. She wasn't referring to the boy. She was referring to someone who was making nasty comments. That is obvious and easily understood. I was talking about your remark that maybe Jonathan deserves a free trip to Cleveland Clinic because of his mother. That's insulting.

CJ is right. To all of us who support this mom, and to mom herself---from now on, let these stinking, cold, dead fish who trash this mother rot. It's what they deserve and a person reaps what he or she sows.

To mom--know we support you and Jonathan. We hope and pray everything will turn out okay and that someone can find the answers. Good luck to you. Now forget about the rotten, smelly fish and keep researching for the information you need, like you have been all alone. I do hope the doc can see what these people have done. I feel horrible for you. And so do many others.

God bless you both, mother and son!!

[Kathy to Dr. RPS-Mayo amino acid results]

Hi...I don't know if you will see this but I finally have the info you requested on these tests. I will list the abnormalities for sake of space with normal reference ranges in parentheses. The amino acid I panel indicates a-amino-n-butyric is 33 (4-31), cystine is 47 (5-45), pyruvic acid(b) 0.07 (0.08-0.16). However, urine amino acids II is awful: taurine 1847 (35-260), threonine 183 (25-100), serine 349 (93-210), asparagine 99 (15-40), gluatamine 647 (150-400), glycine 1547 (185-855, alanine 425 (65-190), valine 93 (17-37), cystine 63 (11-53), cystathionine 14 (2-7), methionine 48 (7-20), isoleucine 48 (3-15), tyrosine 160 (30-83), phenylalanine 84 (20-61), b-aminoisobutyric 11 (25-96), ornithine 19 (3-16), lysine 191 (19-140), 1-methylhistidine 2711 (41-300), histidine 899 (46-725), 3-methylhistidine 384 (42-135). This would make the alanine/lysine ratio 2.225 if I understood you correctly? What does that mean?

The interpretation of this report states "we detect a pattern of amino aciduria. This finding is indicative of either a renal tubulopathy or acute liver dysfunction. Clinical correlation necessary." Also, alk phos was 257 (299-1110) and AST (GOT) was 15 (16-36).

Mayo has recommended against further investigation. Jonathan's status is not improving. If you see this and have any suggestions for me, I would appreciate any information. The doctors here don't know what to do (this was supposed to be the mitochondrial testing, I believe).

In addition, his renal angiogram report states that "there is incidental note of a replaced right hepatic artery." Since Jonathan does not have a replaced right hepatic artery, could they mean displaced? Could this explain the huge abdominal bruit for which there is no explanation?

Thanks and I won't write any more unless you ask me to provide further details. It took me all this time to obtain the information you requested. I am really worried about these results.

Thanks again for all of your help. It has been truly appreciated.

[CCF Neuro[P] MD, RPS]

Dear Kathy:

The results from the urine amino acid screen are abnormal.  They are non-specific but I would agree they indicate a renal dysfunction, likely proximal tubule.  Amino acid screens such as this would be a soft call for a metabolic disorder.  However, with the other tests your son has, it might be just a piece of the metabolic puzzle.  The alanine to lysine ratio is normal, suggesting that he likely does not have difficulty with glucose metabolism.  I would have your family physician call Marvin Natowicz at the University of Mass. with the amino acid results and get his opinion.

CCF Neuro MD

[Kathy]

Thank you so very much. Will proceed as necessary.

God Bless.

[Pheochromocytoma Support Member]

Dear Kathy: Because of similar medical conditions involved, you and I have posted to some of the same boards. I am distressed to see the wasteful arguing going on here, which is lacking focus on the main issue involved, which is getting help for your son. I am extremely concerned about his condition, and I would like to see an update on what is actually being done. Many of us here are worried about him. I beg that you please take the advice of the doctor at this board and see the recommended professionals.

[CCF Neuro[P] MD, RPS]

thanks for the comments.

CCF Neuro MD

[Kathy to Pheo Support Member]

We have an appointment in a few weeks with our local physician to go over the results of the amino acid tests and contact the doctor as recommended by Dr. RPS. Additional re-testing will be done locally to see if Jonathan even stands a chance of passing a sports physical, and also to look for more answers.

I have made repeated calls to Mayo to try and obtain information on their feelings regarding these findings but my calls are not returned; hence, I think we are done there. How sad.

Jonathan is in baseball now and very happy about it. His appetite in the evening is slightly increasing; he has not lost any more weight in the past 2 weeks but has also not gained any. His blood pressure and heart rate remain within normal limits. However, the increased activity he is not used to is making him very, very tired and he is sleeping more. But he is having fun for the first time in about 6 months.

I agree with you about the arguing and nasty comments. I think they were very unnecessary when I was trying to obtain help, which I thankfully did receive from this physician. I stopped posting anything other than the amino acid results Dr. RPS requested in the hopes that people would stop attacking me. I struck out because I was hurt and desperate and that may have been wrong, as well.

I admit funds have basically run out with the massive outstanding medical bills now incurred, plus the expenses of hotels, etc. involved in travel to Minnesota on numerous occasions, and all the missed work. But I remain determined to figure this out and hopefully will find someone who can do it.
It is very frustrating, and frightening, to have already had Jonathan go through so much to have found out basically nothing as far as a REASON for all this, except that many things were "swept under the rug" and not told to me. But the old saying is "never give up the ship" and I won't. He is all I have.

Thanks for your interest. And thanks again to Dr. RPS for being the only physician who has truly helped, and sincerely cared. I will always be in his debt.