Discussions By Condition: I cannot get a diagnosis.

A Desperate Mother Seeking Help

Posted In: I cannot get a diagnosis. 3 Replies
  • Posted By: Anonymous
  • May 4, 2012
  • 02:50 PM

My daughter, Jay, is 18 years old. Since puberty, she has been getting such incredibly perplexing illnesses.

It's almost like "Seasonal Affective Disorder", but it happens during the warmer months and not the winter.
She develops a profound intolerance of heat, to where she literally cannot handle anything near 70 degrees and will start to sob, shake, and vomit uncontrollably. She sometimes becomes hysterical and has visual distortions (not hallucinations) and becomes hyper vigilant and hyper reflexive, and then at other times she develops neurological difficulties where she has tics and develops aphasia, as well as walking difficulties where she says she "cannot feel her hips", and her upper body begins to tip over. In order for her to stay upright, she has to jam her elbow into her hip bone and attempt to move her upper spine to the other side. She can walk like this, but it causes her great pain and looks incredibly awkward. She also had a seizure 2 years ago after spending the day in the sun on the beach.
It should be noted that all of these symptoms appear in correlation to when she is outside and for how long.

She had the most horrible pediatrician who told us it was PMS. But the gyno states that PMS does not last for 4-6 solid months at a time and would not likely cause thing such as aphasia and certainly not the walking problem.

She has had CT Scans, MRIs, X-Rays, all negative. She has been tested for Lupus and Lyme's, and they also came back negative.

Doctors have repeatedly noted that her thyroid is swollen when these symptoms occur, and tested her T4 and TSH levels and all were in the 'normal range'.

She just switched to an adult Primary and he is very interested in figuring out what is wrong. She has a full physical on May 31st, but it would be very helpful to have a few possible things to offer for his consideration.

Jay, also, is incapable of running a fever no matter how sick she is. She has had rivetingly high white counts and confirmed double kidney infection, and her temperature never reached higher than 99.

Jay does have some pre-existing conditions:
Marfan Syndrome, Orthostatic (Postural) Hypotension (We are getting her tested for OI, though)

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3 Replies:

  • I feel so sorry for you; but, hang in there and don't give up. Try to find a specialist, do research online to find anything that matches up with your symptoms.You'll find that not all doctors know the rare diseases.Good luck.
    mom_in_houston_Texas 3 Replies
    • September 3, 2012
    • 04:34 AM
    • 0
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  • This may sound silly but I have a lot of health issues myself and I am getting nowhere with my doctors so I decided to go to youtube and search my symptoms. For example I have what I call walking seizures my legs shake uncontrollably to the point that I need a wheelchair when I leave my neuro sometimes. So I searched tremors while walking and tried to find a video that looked like me. Sometimes they have their diagnosis in the video description. It's worth a shot. I hope you find out what is causing her problems.
    leslie6074 4 Replies
    • September 28, 2012
    • 06:04 PM
    • 0
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  • Lyme tests are nearly worthless. About half of people with Lyme test false negative. Get your daughter tested at IGeneX, a tick borne disease expert lab. (You can ship blood samples from overseas if you're not in the US.). She will also need to see a LLMD, a Lyme Literate Medical Doctor, a doctor who is familiar with this very complex disease. Infectious Disease docs are unlikely to help. They insist that the tests are always accurate when negative and it is always cured in less than a month. Not true! Check out ILADS.org and contact your local Lyme support group for help. You might also watch "Under Our Skin," a documentary on Lyme that shows some patients with late stage disease.
    Pearl66 6 Replies
    • October 15, 2012
    • 02:56 AM
    • 0
    Flag this Response
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