autonomic testing and physicians

[ablanken]

My 21 yo athletic daughter began feeling tired, had some dizziness, difficulty concentrating, occasional headache, began feeling heart pounding and racing at times. Athletic trainer suspected POTS. She had activity intolerance that was sort of random. We live in rural area with limited options. Initial labs by ob/gyn showed no anemia. Cholesterol was 249 and HDL was elevated. She doesn't do drugs, drink alcohol, drink sodas, etc. Episodes of tachycardia continued along with more fatigue. No fainting although dizziness at times. Some orthostatic pulse changes . Increased to 110-120 from 60s and 70s with standing. BP has always been on the low side I guess due to being athletic. Symptoms persisted and she was sent home from college. Family doc did EKG which he said was normal (later it was suggested that  pr interval was borderline "shortened")..No enlarged thyroid palpated. TSH was .51 and FT4 was in the "low" normal range. Electrolytes normal. CO2 in 90s and Glucose in 90s. Sent to cardiologist..took pulse sitting and standing and said wasn't POTS. Echo showed mild mitral valve prolapse with no leaking. Holter monitor showed sinus tachycardia at intervals according to physician. Stress test ( if thats what you want to call it) only was done for short time and on flat surface. Not much of a test for athlete. Dr. stated nothing was noted other than more activity intolerance than you should see in athlete. No big deal. Sent back to school with instructions to do what you can tolerate and the theory that a virus that she had earlier may have triggered a thyroid event that was now resolving and we should see improvement. Symptoms worse with tachy into the 160s with shower. More fatigue and difficult to do school work. Slow shuffle type walk can induce rates in the 130s at times. Sent back home. Tilt table test (no meds) only able to complete until 3 min with BP undetectable. EP test done reportedly ok. TTT  repeated with same results. Labs done showed TSH 1.24 now after only 1 week. Says labs look good. Ferritin a little low. Did ACTH and cortisol (on her period so I dont know if that affects it)..waiting on results. Sent home on Florinef and Mestinon. No renin-angiotensin or other tests scheduled. Cardiologist looking for someone to see her but having no luck. Our area is small (Virginia) and he doesn't have any connections with anyone. We would like a good strong internist to look at the big picture and then go to specialists. Does anyone know of anyone in our area? We need to look for the cause. Does anyone know of a good autonomic testing center? Should she have an MRI?MRA? She wants to stay in school, but she is now sleeping 12 hours a day..Anyone with any guidance would be greatly appreciated..It seems like the tachycardia is now lasting as long as she is up. We are getting a heart rate watch to help us get a better idea of the patterns.

[dml1977]

I found Dr. Katz at Jefferson

[dml1977]

I found Dr. Katz at Jefferson

[Heiferly]

The amino acid panel is not part of the typical battery of testing for any form of autonomic dysfunction except in rare cases with suspected mitochondrial disease. Even in mito, the amino acid panel can be of questionable accuracy and patients often need a special kind of muscle biopsy to confirm diagnosis of mitochondrial disease and identify which complexes are erroneous.

If anyone has questions about what testing is appropriate in their particular case, these need to be addressed to your doctor who is familiar with you as a patient.

[dysautomom]

I also want to add do not change any medications without the supervision of your doctor, especially beta-blockers.They must be wean slowly.Sudden withdrawal can cause a heart attack.I am not a medical person or purport to be one.I am just the mother of a child who was very dysautinomic disfunctional and who has seen improvement.I have my own issues because there was no treatment when iwas young and none of my drs recognized dysautonomic disfunction.my symptoms were milder,with very low blood pressure.I always got dizzy and saw spots before my eyes if i was sitting awhile.I was diagnosed in my 20s w/ fibro(it was barely a disease then)because my gp kept up on things.Since I grew up in the dc suburbs some drs were aware of ground breaking research at NIH.I have sciliosis, and arthiritis starting in my 20s.The low choline causes double jointedness which later translate into joint damage.worser cases are eller-danlo syndrome which my daughter has a mild case(pain no fractures).I have IBS all my life. now i suffer from migraines.i am trying b-2 because there is some research that this prevents them.Many of you have gone years trying to get a diagnosis as did we.MY god the first cardiologist didn't even do the tilt table test for my daughter and neither did the 2nd at john hopkins.Fainting in a young adult that's the first thing the dr should have looked for, vago vagal syncope.so we went thru years of not knowing,my daughter suffering,me fearing the next time she passed out,she wouldn't wake up.I've read many person having worse symptoms after a trauma such as a car accident or surgery.That happened to her as well.The first time her heart rate skyrocketed her roomates boyfriend an emt was there and he calledd 911 right away.they came and gave her the standard shot to lower the heartrate and nothing happened.They had to give her 2nd shot,which apparently is unusual.This is all dysautonomic disfunction.Most of the doctors are treating this with 2nd level drugs and not looking for the source of the dysfunction.These drugs have side effects and are only masking the underlying cause of some of the dysautnomia in people.I don't know how long it takes for a gene to be discovered and have that translate into a test or even a name for the disease.They only discovered this one gene just last year.It could take ten years before your doctors hear about it.Thats too long to have a patient suffer.Start with the amino panel and go from there.Knowledge is power.Good luck

[dysautomom]

tilt table test.Then it was fludrocortisone and beta-blockers.The first made her gain 60 lbs and the second made her faint more.Finally we got her into a research program,which wasn't by any means perfect.She did a lot of her own research with a Dr. who championed her cause and insights.finally they found her gene that is connected to choline transporter problem.The amino acid panel was the key to her improvement.Yes she is border line thyroid low and insulin resistant.She lost the weight with the help of the endocinologist armour for thyroid,metformin for insulin.She takes choline along with the b6(bio available} treats the high homcystiene {NIH},methly b12 helps treat histamine,folic acid.L-glutamine for gastric upset.dailysmart water for the electrolyte loss.This not a cure.She stills has some episodes buts she has not passed out completely for years like she did so many times i thought she would never wake up.She had every problem all of you have spoken about.sleeping all the time getting faint from simply eating or walking or standing up.Hives from a warm shower or exercise.racing heart plunging blood pressure,unrelenting fatgue.Please before you let these drs put your child on these serious drugs or put in pacemakers or do abletions,please get their amino acid panels done.They may have a genetic shortage of one or more amino acid.Find out which vitamins are the precursors to their bodies making those amino acids or if they can just supplement the amino acids directly.often time if one amino acid is short another one will be too high and when you balance out the shortage the other falls into line.Most doctors don't know anything about  amino acids the building blocks of life.You cannot live without choline.Insecticides are choline inhibitors,thats how they kill the insects.people cannot live without amino acids.My daughter can work now and go out.we know someday she may need a liver transplant because of the choline defiency,but every well functioning day she has now is a gift.before she started treating the amino shortage she was just like everyone on this forum.Best Wishes to all

[dysautomom]

I absolutely see my own daughters tory in evryone of these post.Her symptoms started at three with flushing and small hives.this progressed to giant hives,then hives and scary hypothermia.once she crashed to 85 degrees in the high school nurses office.She got heat hives up her neck and her throat started to close.She started getting light headed and heart pound by 17.then after a car accident she began to passout.It wasn't until a dr in towson md at the er  suggested a cardiologist that sought one out.we went to john hopkins. the doctor left on a treadmill alone and she almost passed out.she was so mad she walked out and called to come get her before I had even finished finding a parking space.We finally went to a cardo in annapolis after i beg her to try again.she flunked the first

[Heiferly]

I don't. The closest doc I know of to recommend for you would be in NYC. I hope someone from your area sees this and has a better answer for you. If you would like to know what the options are in NYC, let me know.

Best, H.

[LHgirl]

I suffer from autonomic dysfunction and have been worse since a car accident in 2013. I have not been able to find a doctor in the Philadelphia area who treats this. Does anyone know of anyone in Philadelphia/South Jersey?

[Pattycake69]

I have had autonomic dysfunction since 1993.  Surgery was recommend to do a hysterectomy, and bladder repair 1992.  After six weeks I began to have episodes of my heart racing, anxiety, shortness of breath, sounds were very loud.  I could not sleep because every times I laid down my heart would begin to race.  My blood pressure was going up and down and I seem to have low blood sugar.  I too lived in a small town in Iowa.  My physician tried several antidepressant, but they did not help.  He then tried a drug call Catapres and I had my life back.  I had a tilt table test in 2000 positive and visited Vanderbelt Hospital in 2005.  I am a senior and on Medicare.  The drug plans are not covering Catapres because there is a generic Clonadine.  I have tried this drug several times but it does not work the same.  I am in need of a physician who deals with Autonomic Dysfunction in Texas.  I would appreciate any information anyone might have.  Over the years I have had to add other medication to keep my Autonomic System calm.  

[Heiferly]

Thanks!  Hopefully they'll have as good a setup in WI as they had in OH.  I know they're highly regarded docs so it's good to hear they've put down roots somewhere.  I'll have to make a note of it so I know where to tell patients to find them.  :-)

[CHRISTYDRAKE]

Update on the Chelimsky's...they are now at Wisconsin School of Medicine or something like that in Milwaukee.  They moved there in December.  They are both great.

Christy

[Heiferly]

Gah!  Posted without a final proofread.  Sorry about my editing error.  The paragraph about NYU Langone is out of the order I intended it to go in, but all the content is there at any rate.  Sorry if it reads confusing.  :-/  Brain fog is one of our symptoms, unfortunately.

[Heiferly]

The doctor I was trying to think of earlier was Dr. Ramesh K. Khurana at Union Memorial in Baltimore (close to Johns Hopkins undergrad campus, I believe).  

Here's a description of autonomic testing formerly posted here that you might find helpful:

http://www.medhelp.org/posts/Dysautonomia-Autonomic-Dysfunction/Cleveland-Clinic-Syncope-and-Autonomic-Disorders-Clinic/show/1004815

(The thermoregulatory sweat test is now up and running at Cleveland Clinic; I'm having one there this month.  There are other autonomic-related tests that may or may not be conducted by the syncope/autonomic clinic (vs. the department related to the affected organ system) such as pupillary testing, specific GI tests including gastric emptying studies, specific reproductive-urinary system tests relating to impotence or incontinence, etc.; the exclusivity of these tests varies but if you go to one of the hospitals that has an autonomic clinic, you can safely presume that they have the capacity to do any test that would be warranted.

As I think I mentioned above, the main options for getting a full autonomic workup in the US at this time would be Mayo Clinic (Rochester, MN location only), Cleveland Clinic (Cleveland, OH location only for their full clinic; FL location has partial clinic), and Vanderbilt (TN).  There was a husband and wife team (the Chelimskys) at another hospital in Cleveland who get rave reviews, particularly for their work with youth, but they've recently uprooted and I'm not yet clear on what kind of center they're setting up as they set down roots in ... WI, I believe?  (Someone correct me if I'm remembering that wrong.)  

There is also a Dr. in New York who is a top researcher in certain types of pediatric dysautonomia who has a great reputation and (at least from the looks of his publications) a pretty extensive testing clinic (but I only know of him ... no direct anecdotal reports in our forums from anyone who has seen him, sorry):

http://www.nymc.edu/fhp/centers/syncope/index.htm

The only problem I could possibly see with going to see Dr. Stewart is the same issue I have with Dr. Grubb.  (I hope I'm not "stepping in it" by saying anything remotely negative about the beloved Dr. Grubb.)  These docs are cardiologists who have expertise particularly in a specific subgroup of dysautonomia conditions (i.e. syncope, POTS, OI/OH); for those who have any of these conditions (which admittedly is the majority of the people we seem to see here on our forum), these doctors are likely a great fit.  However, as I see it, conditions such as MSA, FD, PAF, autoimmune autonomic neuropathy, and many others are outside the scope of their practice; there are other institutions that are better suited for patients with these conditions.  Sometimes there is little doubt that *if* a patient has dysautonomia, it is going to fall under the auspices of OI/OH/POTS/NCS; in cases where the diagnosis may be equivocal, however, I think patients are better off going to a "one stop shop" where they can see both cardiologists who specialize in these conditions AND autonomic neurologists ... as well as other specialists who may be needed to consult on the case for related opinions/testing.  

Obviously, there is a lot to consider when selecting a dysautonomia specialist and/or a dysautonomia clinic.  As I recommended before, the conservative route is to consult with a local or (at least) regional specialist first to get an idea of what types of testing may be needed to better inform the decision about pursuing a dysautonomia clinic.  The more aggressive route is to directly pursue a referral to a dysautonomia clinic.  If you have any further questions about autonomic testing, let me know and I will do my best to answer them.  

Best,
Heiferly.

Oh, almost forgot, the dose of florinef does not sound out of the ordinary.  It's within the normal dosing range.  A slow jog around the track like that really is *excellent*.  I understand that her (and your) expectations are high given her level of fitness prior to the onset of this, but unfortunately this is something you're likely going to have to be patient with.  If she's not tracking her sodium and fluid intake, that may be helpful to do while she's getting things sorted out on the florinef; it works by retaining salt and water so if you're not putting enough in, it can't fully do its job.  ("Enough" can be as much as 3-4 liters/day of fluids for some people, and what may seem like insane amounts of sodium relative to what healthy people are recommended for daily intake.  If you haven't gotten physician recommendations for guidelines on these, ask the doc who Rxed the florinef.)



There's also a center at NYU Langone, but I haven't had a single patient report from there since I've been on this forum, so I can't tell you anything more about it than you can read for yourself (sorry):

http://dysautonomia.nyumc.org/

[peggotty]

This site gives more information about dysautonomia:  http://dinet.org/
On the left side is the directory and if you go to POTS place and click on detection it tells more about the testing.  Many of those tests my daughter had but it would be too long to explain them clearly on here.  What I liked about going to the Mayo in Rochester, MN was everything was in one place.  So we started with the pediatric autonomic specialist but saw other specialists as well.  They did a lot of blood testing as well to check out other things and rule out any other illnesses.  My daughter was slightly hypothyroid on her metabolic testing but without presenting with hypothyroid symptoms.  Since being on fludrocort and ferritin her thyroid levels are all very normal and she just has periodic checks on the levels.  It does sound like several things may need to be checked for your daughter.  You may want to post your information on the site I listed above and see what others suggest.  Since your daughter has had this since she was young a medical center that has both an autonomic center plus all the other specialties might be your best approach.  I would think that the doctor I suggested to you would be able to tell if this is an autonomic disorder or not and give you his take on what additional testing might be needed.

[ablanken]

Thank you for that information. I will check him out. Would you mind telling me a little about the types of testing that would be done if she went to a clinic? I would like to go so that we can get a more definite idea about her diagnosis. It almost seems like she has two different things happening. She has lost weight. She does have a problem with sweating a lot. Not as bad as most, but she has been to a dermatologist. This has been something she has had since she was a little girl. I want to rule out a lot of the possible causes and get a handle on whats going on. She just wants to feel better and work out. Its hard to work out when walking 100 yards sends your pulse up to 160s. Its been hard for her to stay in college. She is sleeping 12 to 13 hrs a day and could sleep longer if the alarm didn't go off. Tires easily, but she has her good moments. The Florinef doesnt seem to be making much of a difference. We are trying to get with someone who knows more about managing these patients and who is closer to her. We have an appt with the endocrinologist (first visit). Hopefully, they will be proactive and assist us into getting in with the doctors. Will doing autonomic testing help us understand more about whats happening and possibly rule out/in whether POTS is involved? I think her other symptoms are holding them back from using beta blockers. Our cardiologist said two weeks ago that she needed to see a specialist but he didnt know one.

[peggotty]

I tried posting a reply yesterday but it didn't go thru.  I am aware of this clinic (http://www.childrensheartinstitute.org/) and this doctor (Hasan Abdallah).  There are several of these clinics in your state.  If you go to this site (http://dinet.org/physicians.htm#United%20States) you can see 2 parent comments about this physician.  I think he sees patients into their mid-twenties.  He sees many patients with autonomic issues/ dysautonomia.  Some of your daughter's symptoms sound similar to my 16 year old daughter's symptoms (she was diagnosed with POTS at Mayo in Rochester, MN).  My daughter also presented with sinus tachycardia on her holter monitor but sometimes her heart rate and blood pressure were normal in the physicians office.  One of the things they look at for diagnosing POTS is a 30+ increase in heart rate on the TTT.  I think if there is blood pressure drops going on at the same time as the heart rate increasing that maybe one criteria to suggest it's not POTS but it doesn't rule out other autonomic issues going on.  My daughter's blood pressure is very low off of medication but typically stays within a few points when her tachycardia starts.  The doctor at the Mayo said that low blood pressure is common in adolescents so it doesn't necessarily rule out POTS if they have low blood pressure.  Initially it was felt by another specialist in POTS that my daughter did not have POTS because of her low blood pressure but he did feel there was enough symptoms to warrant further checking for autonomic issues.  There is not consensus even amongst the experts in this field regarding diagnosis of POTS.  This syndrome can present in a variety of ways and for my daughter it not only showed up with her having low blood pressure, and heart racing, but issues with digestion, migraines, and pupil dilation.  Basically any of the automatic body functions can be involved with autonomic problems.  My daughter was initially given .1 fludrocort (florinef) like your daughter and while it brought her blood pressure up slightly and she felt slightly better, it was after she got on metropolol tartrate (beta-blocker) that her tachycardia greatly decreased and she began to feel like eating and no longer was nauseous. The Mayo clinic also set-up a plan to help her become more conditioned again and increased her fluid intake to 12 cups a water per day. My daughter has had these symptoms since she was 7 years old and we were very pleased with how in-depth the testing was at the Mayo Like your daughter hot showers are also a big trigger for starting tachycardia for my daughter, and her ferritin was also low inspite of having an iron rich diet.  It sounds like the Children's Heart Institute in your state might be a good starting place. Good luck!

[ablanken]

Spoke with her this afternoon. It has been almost 2 weeks since Florinef 0.1mg bid was started (Is this a normal dose or a little too high to start out?). Sleeping a lot. Wakes up sometimes with heart pounding just like pre-Florinef. BP usually drops when standing, but now sometimes  is slightly higher although in the 90-108 systolic range. Pulse still increases when standing but not as high. Activity intolerance still a problem, but was able to do slow jog twice around the track which is great...but not for a college basketball player...pulse was racing..not telling how fast. Says she is just so tired.  Other than the small change in BP and pulse, no other changes. Seems like we are getting nowhere. Evidently the cardiologist did not call Dr. Rowe. ..

[Heiferly]

I think I have another name in the Baltimore area up my sleeve.  Busy week for me here, so remind me if you don't hear back from me by Saturday with that name.  I just need to find time to hunt it down.  

I will also address the rest of your questions when I next reply.  Sorry for the delay,
Heiferly.

[ablanken]

Also, Dr. Rowe is not taking any more patients at present:(..If you have any more suggestions, I would be more than thanful. He certainly had all of the right qualifications and interests.

[ablanken]

Thanks you so much for your reply. Its so frustrating not knowing where to turn. She had severe abdominal pain day 2 Florinef, day 1 Mestinon. The doctor stopped the Mestinon. Not sure if it was because he really suspected that as the culprit or wanted to get a clearer picture of what the Florinef was doing. They don't see many patients with these symptoms in our rural area which is within 30 minutes of the North Carolina border. I have been told to try to find someone and he (cardiologist) will try to contact them for referral..I just don't know where the doctors are that are familiar with these type of patients. She has not had syncope so far, just profound presyncope...First TTT neurocardiogenic response within 3 minutes with decrease in heart rate and blood pressure...stopped and followed with EP testing. Said RHC suggestive of dehydration..hydrated with 2 liters...later in day repeated TTT within 3 minutes, syncope and postural intolerance with severe blood pressure drop without bradycardia suggestive of dysautonomic response. No evidence of POTS( what would he have seen then?) although clinical evidence of day to day activities is more typical of POTS....so he seems to be indicating DDx of severe acquired autonomic failure, that may or may not be related to mild mitral valve prolapse..still not ruling out POTS with compensatory tachycardia completely.....So I'm looking for someone to look at this whole picture, try to figure out whats going on, hopefully narrow down the diagnosis...She does not want to quit school...I'm worried that she will have some sort of crisis due to stress/lack of sleep etc. I don't know what type of doctor to really look for...neurologist, endocrinologist, cardiologist...I'm goint to research the one you mentioned. So you think we should hold off on trying to go to one of the clinics? If we go to one of them, do you know a couple of names of good doctors?  Should she see any kind of improvement of her symptoms with Florinef? Also, she has felt some chest pains almost daily since EP testing. Similar to what she had occasionally growing up but not as severe...doctors were never able to id the problem...I wonder if its because she was so young and they just discounted it...How does this disability services thing work? Is this something we should be familiarizing ourselves with? Thanks again for your comments..I will feel so much better when I can locate a physician that is able to deal with her issues..The cardiologist here has been very good at being supportive and telling her not to let anyone tell her she is imagining things, but his experience is limited and we are trying to find someone. I just feel like we are going no where fast. Its seems thats a common feeling on this forum.

[Heiferly]

You've gotten the initial testing which would be recommended (TTT, echo, basic labs) in cases of suspected POTS.  I'm not 100% clear after reading your post what the ultimate interpretation of the tilt table test was; obviously it was positive for some form of autonomic dysfunction, but what diagnostic label(s) did they apply at that time?  I don't want to make assumptions based on your description, particularly when you have the test results to work off of so there's no need for guesswork there.

If the working diagnosis at this point is POTS, you may actually want to hold off on further *autonomic* testing (i.e., you may not need to seek out a dedicated autonomic testing clinic at this point in time which would mean more significant travel for you and might be a waste of time and/or other resources).  IF the tilt table test is showing POTS, your course of action at this point may be to seek an autonomic specialist who can then assist you in pursuing further tests to winnow out what underlying causes are possible.  This would not require traveling to a dedicated autonomic clinic as POTS is not normally associated with generalized autonomic dysfunction (i.e. the further tests beyond TTT that would be available at an autonomic clinic but not at other major teaching hospitals would likely come up all negative in a POTS patient).  (The exception to this, for those POTS patients on this forum currently shaking their heads, is in cases of secondary POTS wherein the primary condition causes some degree of more generalized autonomic dysfunction—such as in a patient with Sjogren's.)

If the working diagnosis is something other than POTS, it depends on what that diagnosis is whether it is advisable to seek out an autonomic clinic.  For some conditions, it may be sensible to seek extensive autonomic testing only after more routine testing and treatment options have been exhausted.  There are no full autonomic clinics in your state, so you would have to travel regardless of which one you chose.  The most highly renowned are Vanderbilt (TN), Mayo (Rochester, IL), and Cleveland Clinic (OH).  The former is more research-focused and gets the lion's share of government grants for research in this field of medicine; the latter two are more patient-centered; we here both positive and negative reviews from patients on all three of them and I can tell you a bit more about each if you decide you're interested in pursuing that at any point in time.

As for what tests to pursue now, MRI and MRA are largely decided based on how symptoms are manifesting.  Basically, if you get to a specialist who is adept in autonomic dysfunction, s/he will be quite confident in whether each of these tests in warranted.  MRA rarely is.  MRI sometimes is, sometimes isn't, so if your specialist says it isn't they may be right.  Of course, you always have the right to question your doc or to get a second opinion.  I still spend a lot of time doing both, and I've been doing this for over five years now.  Your daughter is fortunate to have you helping to advocate for her health; you have to be an active part of this process or it doesn't work.

Virginia is a relatively large state and I don't know exactly whereabouts you are.  I'm not sure if it would be terribly far for you to get to Baltimore or not?    There's a Dr. Rowe at Johns Hopkins (Children's) that I would recommend for POTS, orthostatic intolerance, orthostatic hypotension, neurally mediated hypotension, and/or neurocardiogenic syncope/vasovagal syncope.  He's a renowned expert and, from what I've heard, is well-liked by patients.  I'm guessing that your daughter is *just* still young enough that they'd probably take her there; I know children's hospitals will often treat young adults, especially when rarer conditions are involved.

http://www.hopkinschildrens.org/Peter-Rowe-MD.aspx


How is she doing on the Florinef and Mestinon?  Oh, I forgot to mention ... I definitely appreciate your daughter's desire to stay in school despite all this.  Has the possibility of a Medical Leave of Absence from school been discussed?  I would hope that her docs would support her in signing off on it and then she could take some time away to get this straightened out a bit and return when she has a little more energy to tackle her coursework?  If not, I would get in touch with the school's office for disability services ASAP and see what they can do to alleviate some of the pressure.

Best,
Heiferly.