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keruss945
@keruss945

Posts: 2
Joined: Jul 12, 2018

Multiple Medical Mystery Girl

Posted by @keruss945, Wed, Jul 18 2:53am

My now 14 year old daughter has been dealing with several different & from our understanding, rare issues for the past 11 years. It began when she was 3, she began bruising very easily & often. We were sent to a Hemotologist, who diagnosed her with ITP, or idiopathic thrombocytopenia. While testing her bone marrow due to the ITP, the doctors also diagnosed her with hypothyroidism, & started her on levothyroxin to control that. She was never symptomatic with the hypothyroidism, & all of the symptoms of it were opposite her, but Endocrine doctors assured us that she needed to be treated, so we remain on the meds for that all these years later. On top of those two issues, when she was 5, she developed a Giant central cell granuloma in her lower left mandible, which was so rare that none of the doctors we saw had ever seen a case of it. They treated her with daily calcitonin injections for 18 months hoping the tumor would shrink. The injections did seem to prohibit further growth, but were not shrinking the tumor, so they decided to remove it, which went well & she has has no regrowth so far. About a year after that hurdle, she developed migraines, as well as severe leg pains. For the past 3 years we have been sent to specialist after specialist trying to figure out what is causing her to have this pain. Her legs have gotten so bad that we are considering the use of a wheelchair for her, since she cannot go any distance without suffering for days. The pain & lack of treatment for it have led her to be considerablely depressed. The depression recently got so bad she was feeling suicidal, which I took her to the ER for & was told she was being sent home due to them not feeling she was suicidal enough. So, I’m wondering, 1. Any ideas on what kind of specialist who could possibly help in getting a definitive diagnosis for her pain and 2. What not suicidal enough even means. Because honestly, I think being suicidal at all & being brave enough to ask for help should be way more than enough to get some help! I’m very worried & extremely desperate to get this beautiful child the help she’s so desperately in need of. Exhausted kid, Exhausted mom, need expert advice to see some hope. Thanks in advance for any input.

REPLY

I’m so sorry for your daughter @keruss945. My daughter also suffered with severe pain in her teens. She was finally diagnosed with Fibromyalgia by a Pediatric Rheumatologist. What specialists has your daughter seen? Neurologist? Depending on the circumstances they might test muscles with EMG and nerves with nerve conduction study.
ITP is an autoimmune disease, hypothyroidism could be too. It seems like the focus now is on leg pain. If not done already, I recommend seeing Pediatric Neurologist.

I see you wrote this awhile ago so not sure you will see my reply. I think your daughter needs to see genetics and possibly a diagnostic clinic. She most likely has an overall disorder that is causing her symptoms and if that can be figured out it might explain things a lot better.

A genetics clinic can order whole exome or genome and check for gene variants that might explain her symptoms. Also it might not hurt to seek a consult with someone who specializes in mitochondrial disorders at that is possibility as well. Also the NIH has an undiagnosed and rare diseas clinic that you can apply for acceptance into. If accepted they will pay for everything. I would definitely look into someone who can look at her whole picture. I have two undiagnosed Kids and we are still fighting for answers and are slowly getting there. I hope you get answers for your girl, chronic pain is a horrendous thing.

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