18 y.o. with multiple symptoms

[Insane Mom]

In Nov. 2004 my then 16 y,o. daughter became very ill.  She has remained ill but has never gotten a diagnosis.  Her symptoms include cold intolerance and always feeling cold, extreme hair loss, fatigue, pain, weakness, muscle tetany and spasms, constipation, decreased urinary output and abnormal weight gain.  She gained 30 pounds in 14 days, 20 pounds in 12 days and 10 pounds in 3 days while following a calorie restricted, low glycemic index diet.  In fact, she gained 10 pounds while fasting for 9 days.  In spite of very strict adherence to a low glycemic, high fiber, high protein diet and daily physical exercise she has been unable to lose the weight.  After a few months she did get better but never close to normal.  Now the whole process has started over again.  Her ACTH fluctuates between normal and very low.  Her TSH fluctuates between low and normal, normal 24 hour urinary cortisols (many), occassional low plasma cortisol, sometimes a low free T3 but sometimes a high free T3, normal T4's and fluctuating low to normal TSH. ?She is always hypoglycemic.  There are a number of other abnormal lab values but none are consistently abnormal except an elevated SED rate and and anemia.  We have seen many specialists and all claim this is not their problem  The 3rd endocrinologist says it is not an endocrine problem.  She and I both have lost our sanity over this.  She was a thin (5'10", 154 pounds)very active, happy, normal teenager when this started.  Now she weighs 240.  She has all the symptoms of Cushings without the high cortisol levels.  Where do we go for answers?

[Mark Lupo, M.D.]

I am concerned about Cushings despite the 24h urine -- may need a university based evaluation for more complex testing.  There are cases of cyclical cushings which are very difficult to diagnose.  Would also check ANA, etc for rheumatologic disease.  Would test calcium, potassium, magnesium given the spasms/tetany.  Would eat small frequent protein based meals totalling no more than 1500cal/day given the hypoglycemia/weight gain.

My guess is that thyroid itself is normal but the labs are fluctuating due to another illness yet identified.  Would check thyroid antibodies though to complete that eval.

[mshypo]

Has she been tested for Hashimoto's?  autoimune thyroid disease?

[Chocobabe]

I had the same reaction as mshypo--has she been tested for thyroid antibodies? Because what you are describing is so like the highs and lows caused by an attack of the thyroid, called thyroiditis or Hashimotos. IF she does end up having them, lots of us have found that Armour works FAR better at controlling the attack, and those hypo symptoms you mentioned, than Synthroid.

[Insane Mom]

It has been 15 months and I can no longer remember all the tests she has had.  I do have the paperwork and can check those you have suggested. I know she has had several negative ANA's and immune comliments.  The frustrating thing is that the tests will come back abnormal this week and then next week will be normal.  For example, over the past 15 months she has had several free T3's all of which were low.  Monday, when we got the latest results, the free T3 was high (194 with the upper limit of normal being 144).  The T4 and TSH were normal so the endo decided there was no endocrine problem and dismissed her as a patient. Yet, she feels awful, is in serious pain, is balding from all the hair loss and drags her body though only what is necessary. She has gained even more weight in spite of only eating a low glycemic index diet and very little in amount.  You couldn't pay her to cheat. This is certainly not the life she used to lead. We have seen a long line of specialists who seem to take an interest at first but when it turns out to not be what they originally suspected they do not continue to pursue a diagnosis. They just say it isn't in their area of expertise and go somewhere else.  Or, mostly they say she has emotional problems and seek psychiatric help.  The psychiatrist is the one who keeps pushing us to find a medical solution.  Like he says, emotional problems do not elevate your sed rate for 15 months or cause you hair to fall out. I've ordered the late night saliva cortisol test off the internet but I think this is more of a thyroid problem. I don't know where to go next or what to do.  Meanwhile, she is in serious pain and no one will prescribe analgesics other than plain Tylenol.  She does not sleep due to the pain.  She rarely talks anymore due to the pain.  Imagine having a migrain for weeks.  I'm ready to go postal on them all.

[NURSELPN]

I'm sorry, this whole thing must be very frustrating for you & your daughter. If you are from the United States, have you considered taking her to a major medical center such as a university teaching hospital. My thought in this is that they may consider her a good case study & do the necessary tests to get to the bottom of this for you. They usually have all the medical specialist available right in the area. You don't necessarily have to have a referral for this unless your insurance requires one. If it doesn't just research their site on the internet & call & make your own appt.. My other thought is Mayo or Cleveland Clinic. She has gained 84#'s in 14 months, let alone all her other symptoms. I can't imagine how this has affected your lifes & your family. I wished I could do more to help you.

[Chocobabe]

From what I am reading in your posts, you are describing everything which fits the swings of Hashimotos thyroiditis!! Low free T3, then high free T3..plus the balding, the weight gain, the emotional problems, the migraines--also so classic!! And I personally SO identify with seeing a long line of specialists, and being dismissed. That happened to me for YEARS and all along, it was my thyroid (plus being on the lousy T4-only medications!) I know lots of patients who search out a doctor who will let them try a trial of Armour so they can find out by symptom-elimination if thyroid is their problem. Maybe you could do the same.

[Insane Mom]

I am so very sorry that I gave all of you the wrong information about my daughter's lab values in my original posting.  I had trusted what the endo had told me.  I have gotten copies of all the tests and lab results and gone over them myself and now I'm not only confused and insane but angry as well. I'm going to post the lab values because I need help figuring out what is going on and where to go next to find help for my daughter.  It may not be an endocrine problem--the endocrinologist says it is not--but all the other specialists say it is.

Since 11/04 her sed rate has been high.  It has never gone back to normal but has not gotten outrageously high either. We know it was normal before this for several years. She has remained anemic throughout this entire time in spite of Rx iron, thiamine,B complex and multiple vitamin supplementation.

On 12/4/04 her cortrosyn stim was 0.5 ug/dl fasting, 15.4 @ 30 min and 18.8 @ 1hr., chloride was 114, C02 was 22.

1/21/05 her HDL was 84 (40-59 normal), Triiodothyronine, free, serum was 2.7 (normal for 16-18 yrs was 2.8-5.2) and her plasma ACTH was <5(normal 6-48).

2/11/05 her BUN/Createnine ratio was 38 (8-27), free serum triiodothyronine was 2.6 (2.8-5.2) and serum testosterone was 12 (14-76). It was thought that it was low secondary to Trivora (birth control), DHEA 49 (97-399) and 17-OH Progesterone was 11 ng/dl. No TSH or free T4's were run at these times.  

2/14/05 her Free T3 was 3.0 (2.3-4.2) and her TSH was 1.35(0.35-5.5), Free T4 was 0.9 (0.9-1.8), serum cortisol PM of 9.4 (3.0-16.5).  She was started on Cytomel by ER doc saying she was probably not converting T4 to T3.

3/4/05 at 0502 cortisol was 0.5 ((4.3-22.4), Free T3 of 4.4 (2.3-4.2),Free T4 0.89 ( o.83-1.44),TSH was 0.052 (0.360-5.800)and aldosterone of 1.2 (1.0-16.0).

3/9/05 at 1358 cortisol was 7.9. (High, low, normal???)

3/11/05, C3 complement was 144 (90-180), C4 complement of 40 (9-36), A1C of 5.7 ( no clue of normal range), protein C antigen was 137 (>=70%), C50 complement 85 (22-60), aldosterone 4.6 (1.0-16.0).

3/30/05 BUN/Creat. ratio 27 (1.6-2.4)

4/18/05 cortrosyn stim-fasting 20.5, 30 min 42.5, 1hr 43.7, ACTH 15 (10-46).  Taken off Cytomel by Endo #1.

6/9/05 C02 20 (21-31), BUN/Creat. ratio 40(6-20),triglyceride 39, DHEA-S 51 (35-430).  Started on Armour Thyroid and DHEA by ER doc.

8/31/05 BUN/Creat ratio 31.7 (6-20).  Taken off Armour Thyroid and DHEA by ENDO #2.

12/6/05 CBG with Free Cortisol 7.6 (adults, 2.3-3.9, estrogen therapy >6).  She was on birth control and I do not know if that counts as estrogen therapy or not. I assume it does.  Serum cortisol 20 (collected at 5:30pm), free serum cortisol 0.22 (collected at 5:30pm), % free serum cortisol 1.1 ( no ref. range for 5:30pm collection), cortisol 20.2 ug/dl (3.1-22.4) and ACTH <5 (6-48).

12/31/05 BUN/Cr. ratio 13.3, free T4 1.22(0.69-1.80), TSH 1.88 (0.35-5.50)

24 hour urine cortisols collected 12/6/05, 12/15/05 and 12/27/05 were all normal.

CT w & w/o contrast of adrenals was normal.
MRI w & w/o contrast of pituitary was normal.  It was tailored for eval of the sella turcica only, demonstrated no abnormal sellar or suprasellar mass. Was a slight invagination into the upper portion of the pituitary gland at the level of the diaphragma sella, which the radiologist considered to be an anatomic variant.  It also showed normal enhancement of the pituitary glandular soft tissue.  

1/2/06 serum cortisol collected 8:30am 11.65, sed rate 37 (still high).  High Free T3(not on any meds except Diamox and Topomax (topamax) for pseudotumor cerebri.

Pre-existing conditions:  psudotumor cerebri, asthma, PCOS, pelvic floor dysfunction.

We have seen 3 endocrinologists.  All of them say there is no endocrine problem.  I'm having a hard time understanding that in light of the abnormal serum cortisols and the slightly abnormal T3's without some sort of supplementation. I found a lab that would allow me to self order salivary cortisol levels.  Those results are supposed to be in next Wed.  

Meanwhile, my bright, active, happy teenager is deeply depressed, so fatigued she can drag herself around only to do the things absolutely necessary, has lost over half of her once thick hair, has a thin moustache sometimes, hoarse sometimes, has gained 85 pounds in spite of strict adherence to a high protein, low carb, low fat, high fiber diet, is now constantly constipated and is having great trouble concentrating/remembering even simple things.  She has high levels of pain in the kidney/adrenal area that no one takes seriously and will not give her anything for. She goes through periods where all her muscles tense up and will not relax.  It is very painful when that happens and he skin is sore to even the slightest touch. She moans and whimpers in her sleep.  The pupils of her eyes have been abnormally dialated since this began even when she has been on no meds at all for weeks.  

She has no life anymore.  She was accepted to a top 100 university on the first cut and tapped for thier leadership development program but could not go because she was so ill.  They postponed her admission 1 year due to this illness but unless we get some answers really quickly she will not be able to go this Aug. either. My heart is broken, she and I are nuts and I am ready to go postal on the next MD that tells me there is nothing physically wrong with her.  I am a practicing psychologist and even though she is my child and I may be biased, I know this is not a psychosomatic illness.  Certainly, when this is over, she will have a lot of baggage to work on, anyone would.  But, when this started she was happy, healthy and high functioning.  The times it has improved, she has returned to a happy, higher functioning state, only to be slammed again out of the blue.  We are in Birmingham, Al. so we have access to a university medical center IF I just know what kind of specialist to ask for.  Someone please help.

[Fauve]

What about Pheocromocytosis????? I had it at 18 and medulery carcinoma, her symptoms sound like mine, expect I had racing heart beat. just a thought. (excuse the spelling I am French)
Fauve

[Insane Mom]

She has extreme cold intolerence.  She sleeps under two down comforters at night when everyone else has their fans running full blast.  She even sleeps under a down blanket in the summer in Alabama!  She does go through periods where her heart does race though.  

How do I contact the MD that monitors this board?  I've noticed that he looks over the first questions someone posts but it doesn't appear he comes back to the thread once he leaves it. I just need an opinion if this is an endocine problem and to perserve with yet a 4th or 5th endocrinologist until I get someone to listen or should I take her to a hematologist or what specialist?  

The GP and other specialists we've seen keep saying this is an endocrine problem but when the endocrinologists say it isn't, they they all just give up instead of trying to figure it out.  They just sent us to a psychiatrist and psychologist who tested her extensively and said this is a physical problem which now has emotional overtones due to her inability to get proper treatment.  They shipped us back to the docs.  We even saw a respected endocrinologist at Mayo Clinic who said it might have endocrine connections but he was going on vacation and hoped his collegues would follow up for him--and they didn't.  

Why is there such apathy?  They say things like, "Well, it's been 16-17 months and it hasn't killed you."  No, it hasn't killed her but it has robbed her of any quality of life.  It isn't just that she can't compete in her sport on a world class level any longer (she was #2 in the world).  It took her 3 extra months to finish high school.  She had to give up a full scholarship to a top 100 college because she was so ill she goes from the bed to the sofa, not to class.  She endures unrelenting pain on a daily basis that no one will treat because "she might become addicted."  The friends and boys who were always around haven't been seen or heard from in months.  Her cell phone that once grew out of her ear never rings.  Her vision fluctuates so much that she can only read for a few minutes and she spends all her energy fighting the depression that doesn't respond to antidepressants.  In spite of VERY strict adherence to diet her weight continues to take huge jumps (30 pounds in 14 days).  And, no one cares but me.  The doctors all just say she is cheating and eating more than she thinks she is.  You can't gain that much weight from eating food in that period of time.  I don't care how much you ate.  Are they all stupid?

[Fauve]

NO your not crazy! I was a model and a figure skater, I gained about 35kilos( high in pounds) in about 3 months! I really had NO appatite and I ALWAYS ate good, healthy food. I had never even been to a fast food rest until I was 22! I was tired and cold a lot too! But the flush of the face and the racing of the heart, even in a sitting position was getting stronger, that is what got the Drs in NYC( I was lucky to be there) at Cornel Hopitol to diagnose me after sooooo many tests for a peroid of 8 months straight! They found in me that I had small tumours on my adrenal glands,, they then decided to biopsey my neck, that had a hudge goiter!(that i had had for two years prior!) I also had very strong and long peroids, never normal. Then they got their diagnosis within 3-5 days! I was treted at Memoral Sloan Kettering and from then on I have been ok for the most part, of course Ill never be 100% but Im still here!Thanks God!
Really try to find out if she has any tumours on her adrenals,, from what I gather she has had so many tests that perhaps a mri or xray she has already could be looked at diferently and Might be able to show it???Its just an idea. I read your post and it struck me very familiar. Im No Dr but I hope for your daughters sake and yours you can find whats wrong,,courrage et bonne chance!!
Fauve

[NURSELPN]

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