Severe Case of Peripheral Thyroid Hormone Resistance-what can we do?

Question

I am new to this community and have asked the same question on Genetics forum, but I am not sure that it was the right place to post and I am sorry for double-posting. I have an unmanageable condition called Peripheral Resistance to Thyroid Hormone with severe hypothyroidism that does not respond to medication. I am female, 32 y.o. and was affected by Chernobyl fallout at the age of 10 and had a bad case of Mono at 11, and heavy metal poisoning as a teenager while working in art school. My mother had symptoms of hypothyroidism all her life (multiple miscarriages, infertility, chronic pain, hair loss, fatigue etc.) and my aunt has a nodular goiter with hypothyroidism. I had problems with cold intolerance, hair loss, weakness all my life but in 2007 due to sudden onset of body swelling along with all these symptoms was discovered to be hypothyroid. I was treated with T4 for a while and it helped with all my symptoms but after an accidental overdose with T4-T3 combination drug I had a very brief thyroid storm and most of my tissues became resistant to thyroid hormone. My symptoms became progressively worse and include drastic facial skin thickening leading to progressive deformity, severe hands and feet edema (permanent), confusion and disorientation spells, severe electrolyte deficiencies, overall body swelling, fast hair loss, I can't walk without a cane and sometimes fall, have muscle wasting and pain, hearing loss and constant blurry vision; electrolyte deficiencies almost killed me a few times (Potassium drops cased seizures and inability to move). I become lethargic and don't know where I am when it gets colder, and swell up immediately when it gets a little bit warmer outside. My blood tests indicate incorrect response to T3 in different tissues. Basically, only pituitary gland and the heart responds to T3 correctly and other tissues become extremely hypothyroid. I am completely disabled, on Medi-Cal and financially lost everything I had due to illness. My boyfriend who lived with me for a few years now, is struggling to help me. We have failed to find help locally as most endocrinologists don't know anything about such cases, as those who do don't take insurance. We are asking if anyone knows what tests we need to do if we can to find out the cause of my resistance. My tests show the pattern similar to the patients with thyroid receptor mutation that runs in the families or sometimes can be caused by other factors like radiation exposure, and we suspect this is the case. We lost hope trying to find treatment, as I am resistant even to large doses of T3 and suspect receptor mutation. Please help us, if you can. Thank you in advance;

gimel · Answer

What you've been through should not happen to anyone.  Have you ever heard of the doctor in this link?

http://www.drlowe.com/QandA/askdrlowe/resistnc.htm

He offers phone consultation, after looking at your medical reports and lab tests.  Rather than traveling to a distant city, it might offer a option for you.

TellTaleArt · Answer

Hi...Yes we have tried everything. It has been 4 years. 

It took a long time to get diagnosed and I had to work with out-of-network MDs that are not conventional endocrinologists because very few people as you have said understand anything about it or know about it's existence. Me and my husband were met wit great resistance bordering on abuse at the local san francisco hospitals (they "don't believe" in resistance  in general despite available research and obvious symptoms) and will stop at nothing to prove their point and stop patients from getting help-as I said, verbal abuse, misdiagnosis, altering records, accusations of made-up "mental illnesses"...the list goes on. It became a dramatic and unbearable  battle with local endo department refusing me treatment, refusing us testing or any basic  help or even referrals, some illegal things were done to me and we had to seek care elsewhere because, well, we don't have lawyers or money or private doctors to fight this fight.  We have been starving ourselves to go see a fancy and expensive endocrinologist in New York who knows about this condition, but in my case it might be untreatable as most people like me get better on high doses of T3 and I do not. you are right, there are literally maybe 3 medical professionals in the US who know about this illness and they are unreachable, un-affordable, and the "system" ignores their opinion and ignores us. We have to deal with all this while I don't even leave the room anymore due to this severe  illness. I guess I m lucky:-(

LazyMoose · Answer

Very rare question even for this place. I only ask if you tried all forms of T3, synthetic and dessicated?

How were you diagnosed with Peripheral Resistance to Thyroid Hormone? Did you find a doctor that really understands this rare condition? 

Some types and brands simply do not work for some people, you may know this, but not all do. So, some are resistant to certain brands or types.

So have you absolutely positively tried all thyroid meds to rule out this condition? I realize this is a very basic, but, important simple question.