Friday, June 19, 2009

Desperately Seeking Diagnosis

This message was sent to me by a reader desperately seeking a diagnosis for her daughter. I re-posted it with her permission to show the challenging situation these patients are in as well as see if anyone may have suggestions to help her.

I just heard about you from a co worker and I have a story about my 23 year old daughter. She became ill 26 months ago after being a very healthy child and young adult.

At age 17, she was diagnosed with ulcerative colitis, after about 12 months of various stomach issues. The gastroenterologist put her on Asacol and the disease was controlled with the medication and food choices. 26 months ago she came down with what appeared to be a severe sinus infection, with horrible headaches, facial swelling, eye irritation, rashes on her hands and various parts of her body, persistent cough and excessive phlegm. Kaiser treated her symptoms separately and nothing helped. In the course of routine blood testing we found some very disturbing numbers in her white blood counts. Platelets were very high – they started in about August of 2007 in the 800,000’s and by February 2008, were close to 1.5 million. Her other white counts also high. Inflammatory markers were also off the charts.

We had seen approximately 30 doctors within Kaiser system and it wasn’t getting us anywhere. They did rule out cancer, a primary blood disorder as well as a number of diseases. But no diagnosis. In February of 2008 I took her to the Mayo Clinic in Arizona, to see if we could get any diagnosis. When they found out her platelets were at 1.5 million they immediately admitted her to the hospital and performed plasmapheresis – had I realized how invasive this process was – we never would have consented since we had already ruled out a primary blood disease. Unfortunately, they didn’t tell us what they were going to do. After spending 6 days in the hospital with an array of specialists, they decided that this was most likely attributable to her ulcerative colitis – though it was a rare occurrence. Extra gastrointestinal manifestations of ulcerative colitis. Mayo put her on 60mg of prednisone in February 2008 and within about 30 days, some of the symptoms subsided. Since that time during her tapering process the headaches returned with a vengeance for about 4 months this past January and the light sensitivity came back.

Her Kaiser docs want to put her on Remicade or Humiera for the inflammation, but we still don’t have a real diagnosis and the side effects of these drug are not worth experimenting with. She has tapered down to 5 mg of prednisone and is still experiencing the excessive phlegm, occasional cough, eye irritation and terrible light sensitivity. Her platelets hover around 800,000.

We have since turned to alternative therapies trying to heal her naturally. This poor young woman with a recent college degree is unable to work, move out of our house and rarely able to drive due to the sensitivity to the light. We are at our witts end, trying to figure out what is really going on. We need a Dr. House and his team!

I am going thru money that we don’t have and cannot get back from Kaiser and I am at a loss trying to help my only child come back from this. Emotionally, I don’t know how much longer she will hang on.

If anyone has any thoughts – they would be greatly appreciated. Thank you so much.

7 comments:

  1. Brad,

    It seems that this is a long-term relapsing infection. Steroids, such as prednisone are about the last thing one should use.

    Lyme disease, for example, can cause symptoms such as those experienced by your daughter. Kaiser will be of no help for this and the tests and labs they use are worthless. Or it could be another relapsing infection illness.

    Has your daughter ever tried long-term antibiotics? It might be worth a try with a relatively safe antibiotic, such as amoxicilin, to see if she has any reaction after a few weeks.

    Miguel (not an MD)

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  2. Miguel, in the beginning, my daughter was on 5 rounds of different antibiotics....we don't feel they are the answer either. still looking. the worried mom.

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  3. Denise,

    Go to http://lyme.kaiserpapers.org/

    Click on "contact us" and email me privately.

    The email system got messed up. If I don't respond in a couple of days, send an email to Vickie, the webmistress. She will contact me.

    Miguel

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  4. Hi Brad, have they ruled out Wegener's granulomatosis (requires a skin or kidney biopsy if ANCA's are not positive)? It causes the respiratory symptoms, the eye symptoms and the thrombocytosis. See: http://www.ajronline.org/cgi/content/abstract/125/1/127. Best, Millan

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  5. Millan thanx, they did rule out Wegner's and about 30 other diseases at Mayo Clinic last year. We have gone the alternative route and though she is getting better now, we haven't done any lab work to check in on her white counts.

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  6. Hi Denise,

    That is wonderful. My sister has a couple of books on alternative therapies for UC and a nutritional supplement...they seem to help some people. www.caramal.com

    Best,
    Millan

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  7. My Mum who was experiencing weight gain, hair loss and acne, bouts of chest and abdominal pain and several months of unrelenting headaches that no medicine could relieve, In fact, it got worse. saw various doctors they decided that the lab levels indicated nothing much at all, until we met a Doc. who did CT scan, and she was diagnosed with adrenocortical carcinoma. So after one year, A surgeon advice was to remove her tumor, along with her left kidney. she needed to see someone with extensive experience in treating adrenal gland tumors for the next phase of her treatment. Knowing she needed to get an answer once and for all, we looked up on the internet and saw someone who testified about Aryan herbal medicine which she took and she had no more symptoms since then. You can also contact him if interested at
    draryan500@gmail.com

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