Dec. 16, 2013
Posted at December 16, 2013 8:39 pm by Mary Dunkle

7 Responses to Genzyme and NORD Establish Program to Help Undiagnosed Patients with Rare Diseases

  1. Anna McHugh says:

    my son has 2 rare diagnosises. Epidermolysis Bullosa simplex with mottled pigmentation and dyskeratosis congenita. he has doctors all across the US. I am not sure that he qualifies for any stem cell treatment or may need a bone marrow transplant. I am not sure what the big picture looks like for the treatment he needs and if he will always be able to recieve treatment. Anna McHugh

  2. Emily Smith says:

    I was diagnosed 6 different times throughout my pregnancy from strokes to seasures to ms to brain infections I’ve had it all. Finally leaving me with susacs syndrome but I then from there proceeded to loose my hearingand kognentive state luckily I started treatment to save mostly all of my eyesight. Coming back from pregnsncy I lost my job due to the duties it required me to preform and don’t know how many ivig treatments I can further recive and if I’m in the need of chemo. The only specialist for susacs in the us is in Cleveland and have been receiving info via email yet very stressful finantually with a newborn and treatments

  3. Lesley Bennett says:

    What a great PROGRAM. Thanks to all of you for doing this. It will help a number of families!!

  4. sheila Turnage says:

    how do I apply to be in research

  5. Misty Powers says:

    Please help me find a diagnosis for my six yr old son!! I am completely lost right now!

  6. Robin D says:

    I have a diagnosis of an autoimmune disorder of the brain-age 52. Symptoms are getting progressivly worse with extreme chronic fatigue, chronic brain inflammation, allergies including food, animal, outdoor, indoor. My neurologiocal autoimmune testing reactivity screen, array 7, returned with equivocal myelin basic protein, asialogaglioside and out of range synapsin, chronic migraine. Family history includes mitochondrial myopathy, siezures, ocular cranial red ragged fibers my cousin has. All on my mothers side of the family. I would like to particpate in any stem cell therapy if available. Im am no longer working after 20 years due to my condition and would like to return to the workforce on day soon. Thank you for any help you can provide.

  7. Allison Fickler says:

    I could not get my doctor to confirm my diagnosis with lab work/genetic testing (he said we didn’t need to based on my symptoms & my insurance (bcbs ppo) probably wouldn’t cover it anyway). Unfortunately, now I am currently uninsured (my husband lost his job… so our insurance benefits cancelled in December 2013). Would this program confirm my diagnosis, so I can know for sure???? & what are the qualifications/ application process? I just want to know that my diagnosis is correct. What if my diagnosis is wrong & I have something with treatment options, maybe even a cure!?!)? Any assistance/direction appreciated!

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