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Dec. 16, 2013

TOPIC: Advocacy, Featured News, Industry, Medical, Patients & Members

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

Posted by Mary Dunkle

CAMBRIDGE, MA and DANBURY, CT—-Genzyme, a Sanofi company, and the National Organization for Rare Disorders (NORD) today announced the creation of a fund to pay for standard diagnostic testing for people with mysterious, undiagnosed medical conditions.  The fund will help those who have applied to the National Institutes of Health (NIH) Undiagnosed Diseases Program but who cannot afford the basic medical tests needed to make them eligible to participate in the NIH program.

“While progress in scientific research has been very promising in recent years, millions of Americans who have rare diseases go for five years or longer without an accurate diagnosis,” said NORD President and CEO Peter L. Saltonstall.  “This delays treatment and creates enormous financial and emotional stress for patients and their families.”

The new fund is made possible in part by a team of Genzyme employees who run the Boston Marathon to raise funds for NORD services on behalf of all patients and families affected by rare diseases.   Since 2008, members of the Genzyme Running Team have been paired with rare disease patient partners, and devote months before the Boston Marathon to training, raising awareness and fundraising.

“This initiative highlights the unmet need that still exists in helping patients with rare diseases find an accurate diagnosis,” said David Meeker, MD, President and CEO, Genzyme.  “We are proud of the work of the Genzyme Running Team and are excited that their fundraising efforts will be focused on a program with such immediate and direct benefit for patients.”

In 2014, the NIH Undiagnosed Diseases Program will expand to include a network of major academic medical centers across the U.S.  The Genzyme/NORD NIH Undiagnosed Diseases Fund will support testing for patients applying to all clinical sites and, in particular, the new satellite centers.  Patients applying to the NIH program who need assistance to pay for the required testing will be referred to NORD by the NIH centers.

“We are grateful for the interest of Genyzme, NORD and the Genzyme Running Team in supporting the Undiagnosed Diseases Network,” said William Gahl, MD, Director of the NIH Undiagnosed Diseases Program.  “The UDP serves individuals and families who are desperately seeking a diagnosis after having exhausted all other avenues.  We look forward to the expansion of the program in 2014, and we feel that support for this standard testing will be an important source of assistance for patients and their families.”

Since 1987, NORD has provided Patient Assistance Programs including free drug for patients who qualify on the basis of financial need, co-pay and premium assistance, and travel assistance for treatment or to participate in clinical trials.  Currently, NORD administers approximately 50 Patient Assistance Programs.

About the NIH Undiagnosed Diseases Program (UDP)

Established in 2008, the NIH UDP is the primary national resource for patients and their physicians who have exhausted other alternatives in seeking a diagnosis.  Those accepted into the program go to the NIH Clinical Center in Bethesda, MD, where a multidisciplinary team of medical experts seeks to unravel the mystery and determine a diagnosis.

Patients applying for admission to UDP provide their medical history and medical test results.  A team of NIH physicians then evaluates the medical tests for diagnostic clues.  Due to limited resources, NIH only admits patients physicians think they can help, and only those patients with a baseline of preliminary medical tests are eligible for consideration into the program.

About the National Organization for Rare Disorders (NORD)

NORD is a nonprofit organization established in 1983 to represent all individuals and families affected by rare diseases.  It provides advocacy, education, support for research, and patient/family services to improve the lives of the 30 million Americans living with rare diseases.

About Genzyme, a Sanofi Company

Genzyme has pioneered the development and delivery of transformative therapies for patients affected by rare and debilitating diseases for over 30 years.  With a focus on rare diseases and multiple sclerosis, it is dedicated to making a positive impact on the lives of the patients and families it serves.

About Sanofi

Sanofi, a global and diversified healthcare leader, discovers, develops and distributes therapeutic solutions focused on patients’ needs.  Sanofi has core strengths in the field of healthcare with seven growth platforms: diabetes solutions, human vaccines, innovative drugs, consumer healthcare, emerging markets, animal health and the new Genzyme.


Genzyme:  Ingrid Mitchell, (617) 768-6699,

NORD:  Mary Dunkle, (203) 744-0100 ext. 217,


9 Responses to “Genzyme and NORD Establish Program to Help Undiagnosed Patients with Rare Diseases”

  1. linda says:

    I have been undiagnosed with many weird off the wall symptoms for 39 years and they scare me. 1 issue is I cannot take nearly all medicines they all have some strange reaction and I am diabetic and high blood pressure and the medicines for those conditions all cause some type of strange symptoms I really need help as I suffer so many symptoms but for years now do not take medicines because of their effects. The doctors are baffled yet I do not really have anything to show as diagnosis for many of my symptoms and I really need help because at some point the diabetes and high blood pressure will kill me with no medications and I have so many symptoms since I was 19 when a lot of the strange symptoms started Please let me know how to apply for this program as my doctors do not have a clue to what is wrong and I am now 59 with no hope.

    • Christina Jensen says:


      We encourage you to look into the Undiagnosed Diseases Network (UDN). The UDN unites leading clinical and research experts across the country to solve the most challenging medical mysteries. Patients with longstanding unexplained symptoms receive in-depth evaluation, including genetic testing, at one of the UDN’s seven medical centers. Altogether the nationwide team includes more than 100 cutting-edge researchers whose collective goal is to find the cause of each patient’s disorder. Applications for all seven centers are being processed by the online UDN Gateway. Learn more:

  2. 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!

  3. 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.

  4. Misty Powers says:

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

  5. sheila Turnage says:

    how do I apply to be in research

  6. Lesley Bennett says:

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

  7. 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

  8. 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