Legislation Introduced to Create Undiagnosed Diseases Research and Collaboration Network

Sept 1, 2011, by Heather Long

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.

 

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 unique.  Every day undiagnosed patients and their physicians struggle with the inability to network quickly and efficiently in order to find a diagnosis and improve their care and outcomes. There are professional physician networks in existence, but none are dedicated to solving undiagnosed cases.

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.  The answer was “no”.  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. Consequently, the true magnitude of the undiagnosed population is unknown and there is no central repository of epidemiological data elucidating the types and prevalence of cases of undiagnosed disease in the U.S.  Statistics on the number of undiagnosed cases are sparse and hard to locate. As an example, according to 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.

No Resources for Patients with Undiagnosed Illnesses

Currently, there is only one program specializing in the research of undiagnosed cases.  Despite the fact that there is no viable consensus amongst those in the medical community as to the breadth of the undiagnosed population, a clue to their numbers lies in the fact that since its inception three years ago, the NIH’s Undiagnosed Diseases Program has received over 5,000 inquiries and approximately 1,900 full case submissions for acceptance. Unfortunately, due to the overwhelming number of cases in the UDP’s backlog, as of July 1, 2011, the NIH’s Undiagnosed Diseases Program (UDP) has stopped accepting new patients, leaving countless numbers of undiagnosed individuals and their physicians without an alternative source of help.

Proposed Legislation Will Create Research and Collaboration Network

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.

 

Secure, Professional Networking Tool for Physicians

Patient registries have been very successful for many other diseases; but the CAL Network will be even more powerful than traditional patient registries because it will facilitate actual networking capabilities that traditional patient registries do not provide.  The CAL Network will help undiagnosed 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, enabling them to collaborate to find a diagnosis and improve patient care and outcomes.   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.

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. There are databases available to help obtain information on rare diseases, but they are limited to disease-specific inquiries rendering them of no benefit to those who don’t know what disease they are looking for.

VA and DOD Access

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.  The CAL Network will also help our veterans because it 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.

Increasing Support for H.R. 2671

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): “The creation of an official recording of those who are undiagnosed is absolutely essential to identify and track a medically unserved population that is in desperate need of help.  It will also be of help to those researching difficult to identify illnesses.” – Marianne Genetti, Executive Director

SWAN USA (Syndromes Without A Name): “I’m hopeful that this bill will create something that will be beneficial for families,” “Maybe this is a way to stop this type of thing from happening—where a program is started but then it has to halt or go away because of lack of funding.”, Amy Clugston, President

UMDF (United Mitochondrial Disease Foundation): “This database would aid in research and education for the diagnosis, treatment and cure of mitochondrial disorders.” – Charles A. Mohan, Jr., CEO/ED of UMDF

 

MOAA (Military Officers Association of America): “As the largest and most influential association of military officers, we believe that the CAL Network will provide opportunities to improve the healthcare that our members, their families, and other service members and veterans receive.” – VADM Norbert R. Ryan, Jr. USN (Ret), President

AmVets: “AMVETS believes the “CAL Network” will prove to be a tremendous asset to the Department of Veterans Affairs, Department of Defense and private sector health care providers. . . VA, DoD and the private sector all have an extreme wealth of research and data individually. However, pooling and sharing all of this data will help diagnose diseases earlier, thus increasing treatment options and saving the lives of both veterans and non-veterans alike.” – Christina M. Roof, National Acting Legislative Director

VetsFirst: “VetsFirst believes that opportunities available through the CAL Network are significant.  Specifically, the registry will ensure that VA is able to see patterns among not only the veterans they serve but those present in veterans who seek private care.” – Heather L. Ansley, Esq., MSW, Director of Veteran’s Policy

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. You can contact your U.S. Representative by clicking here to send a letter asking your member of Congress to co-sponsor H.R. 2671

If you are a member of an organization and would like to show your support for H.R. 2671, you can write a letter of endorsement to Representative Carter and Chairman Dreier on your organization’s letterhead and email me a signed copy to project_cal@att.net OR I have drafted a letter of endorsement that you can sign on behalf of your organization. Click here to see a copy of this letter. If you would like me to add your organization as a signatory to the H.R. 2671 CAL Network Letter of Endorsement, just send an email to me at project_cal@att.net stating that your organization would like to sign on as an endorser and that you give me permission to add your organization’s name to the letter.

Thank you for your time and consideration.

Heather Long

1 thought on “Legislation Introduced to Create Undiagnosed Diseases Research and Collaboration Network”

  1. Deanna says:

    Hi, my friend has been to MANY doctors and they can’t find what is wrong with her. She keeps asking me what is wrong with my blood..i just want someone to fix me so I can go on with my life. Any suggestions. Thank you ..ddnohio

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