Undiagnosed Disease Research and Collaboration Network

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Mike Bartolatz
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Undiagnosed Disease Research and Collaboration Network

Post by Mike Bartolatz » Thu Sep 01, 2011 11:52 am

Undiagnosed Diseases Research & Collaboration Network




By turtle102301
Yesterday at 7:45 am · 1 reply
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My son, Cal was five years old when he lost his life to an undiagnosed disease. He spent the majority of his short life in and out of hospitals, being seen by numerous specialists and subjected to countless diagnostic tests, arduous therapies and invasive medical treatments. Despite efforts by his physicians, none could diagnose the disease that slowly and painfully killed him.

During this time, I discovered that there is no one organization to which undiagnosed cases are reported and that there is no way for our nation’s physicians and researchers to network, research and collaborate on undiagnosed cases.

ISSUES:

1. No Network for Physicians Handling Undiagnosed Cases
In my son’s case, the major obstacle to our obtaining a diagnosis for him was the inability of our physicians to circulate Cal’s case within the medical and disease research networks to find other physicians handling cases with similar signs and symptoms. Without this network (aside from the traditional word-of-mouth method) Cal’s physicians could not collaborate with colleagues to find a diagnosis, and provide Cal with appropriate treatments and an opportunity for a cure. Cal’s case is not isolated.

2. No Reporting System for Undiagnosed Cases
After Cal died, I asked several of Cal’s physicians if there was a patient registry or repository of information on undiagnosed cases so that I could donate Cal’s medical information in the hopes of helping someone else. I was told that there was none.

Currently, in order for a patient’s case to be recorded in an existing patient registry, the patient has to have been diagnosed. Therefore, until such time as a patient receives a diagnosis, which can ultimately take years, invaluable information about their case is not being recorded or shared, thus leaving thousands of undiagnosed patients unaccounted for and truly orphaned. Furthermore, information on deaths attributed to undiagnosed diseases is not being collected and used for vital statistics. So there is no way to know how many deaths are caused by undiagnosed diseases.

As a consequence, the true magnitude of the undiagnosed population is unknown. Statistics on the number of undiagnosed cases is sparse and hard to locate. As an example, the National Human Genome Research Institute, between 30 to 40 percent of children with special needs do not have an exact diagnosis. Further, my son’s genetics counselor told me that they are only able to diagnosed 50 percent of the children they see and they purport to see over 3,000 families a year, receive more grant support from the NIH than any other genetics department in the U.S, and have faculty in the Department of Molecular and Human Genetics at Baylor College of Medicine.

3. NIH Undiagnosed Diseases Program Suspends Acceptance of New Cases
There are so many people in need of a diagnosis that the NIH's Undiagnosed Diseases Program (UDP) has stopped accepting new patients. Since its inception three years ago, the UDP has received over 5,000 inquiries and approximately 1,900 full case submissions for acceptance into the program. However, the UDP has only accepted close to 500 applications and has only been able to actually investigate around 350 of them; leaving countless numbers of undiagnosed individuals and their physicians without an alternative source of help

THE SOLUTION:
After Cal, died I refocused my energy on addressing these issues and doing what I could to change the way undiagnosed cases are handled in the U.S. On July 27, 2010 Representative John Carter [TX-31] and Chairman David Dreier [CA-26] proposed legislation that was drafted with input from the NIH and the CDC. H.R. 2671 – CAL Undiagnosed Diseases Research and Collaboration Network Act of 2011 creates an unprecedented and much needed network, the “CAL Network,” for our nation’s physicians and researchers who are handling undiagnosed cases. The CAL Network will benefit the undiagnosed, rare disease and veterans’ communities by allowing our nation’s physicians and researchers to collaborate with their colleagues and could potentially lead to the advancement of science and treatments for these patients. H.R. 2671 is cosponsored by Representative Michael Burgess [TX-26], Representative Dennis Kucinich [OH-10], Representative Cathy McMorris Rodgers [WA-5], and Representative Jackie Speier [CA-12], and has received endorsements from INOD (In Need of a Diagnosis), SWAN USA, and the UMDF.

1. Secure, Professional Networking Tool for Physicians
The CAL Network will help these patients and their physicians by providing a professional, secure, network for doctors and scientists to register undiagnosed case(s) and search for and identify cases with similar presentations, signs and symptoms. It will enable them to collaborate to find a diagnosis and improve the care and outcomes of their patients. Patient registries have been very successful for many other diseases; but the CAL Network will be even more powerful because it will facilitate actual networking capabilities that traditional patient registries do not provide. It is this unprecedented networking element, allowing real-time collaboration amongst physicians and researchers that will bring diagnosis and treatments for thousands of undiagnosed Americans.

2. Rare Disease Cross-Referencing
The CAL Network will help the rare disease community by allowing physicians to compare their undiagnosed case against attributes of identified rare diseases for potential matches. There are more than 7,000 rare disorders that together affect over 25 million Americans and their families. Some of these diseases are so rare that the majority of physicians have not heard of them, making diagnosis extremely difficult. It can take 3-5 years for patients with rare diseases to receive diagnosis and in some cases they are never diagnosed.

3. VA and DOD Access
The CAL Network will also help our veterans. Many of our brave men and women who put their lives on the line for our country are returning home with illnesses that physicians cannot explain. While the VA does maintain registries for military personnel that have been exposed to health threatening substances and environments, it cannot collect this information from veterans who do not seek medical care through the VA. The CAL Network will allow the VA and DOD access to the information on veterans who receive private healthcare, thus facilitating collaboration between the VA, DOD and larger health and research communities. H.R. 2671 has already received endorsements from MOAA (Military Officers Association of America), AmVets, and VetsFirst.

HOW YOU CAN HELP:
Cal lost his life, but there are still thousands of children and adults struggling to receive a diagnosis. H.R. 2671 will bring hope to those with undiagnosed disease and you can help them by writing to your U.S. Representative and urge them to cosponsor H.R. 2671 – The CAL Undiagnosed Diseases Research and Collaboration Act of 2011. Without sufficient numbers of cosponsors, H.R. 2671 will not make it through committee and will not be passed into law.

Feel free to contact me if you have any questions.

Sincerely,

Heather Long
Project_Cal@att.net
Mike Bartolatz
Moderator

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