Feds to Offer Free Health Care to People With Very Rare Diseases

[cat lady]

Feds to Offer Free Health Care to People With Very Rare Diseases

 

They're the cold cases of medicine, patients with diseases so rare and mysterious that they've eluded diagnosis for years.

 

The National Institutes of Health is seeking those patients ? and ones who qualify could get some free care at the government's top research hospital as scientists study why they're sick.

 

"These patients are to a certain extent abandoned by the medical profession because a brick wall has been hit," said Dr. William Gahl, who helped develop the NIH's new Undiagnosed Diseases Program. "We're trying to remove some of that."

 

The pilot program, announced Monday, can only recruit about 100 patients a year. But federal health officials hope that unraveling some of these super-rare diseases in turn will provide clues to more common illnesses.

 

"We believe this is not only a service to be rendered, but also knowledge to be gained," said NIH Director Dr. Elias Zerhouni.

 

About 10,000 new patients a year sign up for roughly 1,500 different research studies, many of them for rare diseases, at the NIH's Bethesda, Md., hospital, the innocuously named Clinical Center.

 

The new mystery-disease program is aimed at people with the rarest of the rare diseases ? even those with truly brand-new ailments ? who otherwise would be turned away because there are no studies, yet, for their conditions or a researcher specifically tracking their symptoms. It doesn't promise a diagnosis, but the chance to be reevaluated by a team of renowned specialists.

 

Amanda Young of Conyers, Ga., illustrates patient frustration. By age 3 1/2, she had suffered repeated lifethreatening infections that left doctor after doctor baffled. At 8, a scratch turned gangrenous, requiring her leg to be amputated. Yet under the microscope, her immune system seemed normal except for an unexplained low white blood cell count.

 

In 1990, not long after that amputation, her desperate parents brought her to NIH, where the hospital director "made us a promise," Young recalled. "He told us he would never give up on me."

 

It took until 2003, but Young got a phone call: "My disease finally had a name."

 

Gene research had uncovered a previously unknown immune-system pathway ? showing NIH's Dr. John Gallin that Young harbors an extremely rare mutation, named IRAK4 deficiency, that means she lacks a protein key for that pathway to work.

 

There's no treatment yet. But Young, now 26, continues to volunteer for research in hopes of one.

 

To be considered for the new program, a doctor must refer a mystery patient to the NIH and send all medical files for evaluation. Accepted patients will undergo up to a week's additional testing at the Clinical Center, for free.

 

For more information, see http://rarediseases.info.nih.gov/undiagnosed or call 1-866-444-8806

[judycolby]

I don't know what I think of that. On the one hand it sounds good, but on the other how long might this take for a patient to get a diagnosis? It could sometimes be faster for the patient if they found their own specialist. Interesting though.

Judy

[justashell]

I'm encouraged. Just to admit that people with rare diseases are slipping through the cracks gives hope to many.

 

Another possibility about this is that it fills in holes in other areas...

[ADDflower]

Thank you for sharing this... Monicaroni told me about it and I just called to find out if I can qualify. The person I spoke with is going to talk to someone else (because the program is new she needs to ask questions) and they're going to get back to me.

 

Since I've already called about another study for pituitary tumor ... I may have to get denied for that study first. Who knows... maybe it's not the right thing either... but I'm willing to talk to anyone about anything at this point.

 

ETA: I'm thinking that they're probably looking to help people that are a LOT sicker than I am... but it can't hurt to ask.

[cat lady]

Thank you for sharing this... Monicaroni told me about it and I just called to find out if I can qualify. The person I spoke with is going to talk to someone else (because the program is new she needs to ask questions) and they're going to get back to me.

 

Since I've already called about another study for pituitary tumor ... I may have to get denied for that study first. Who knows... maybe it's not the right thing either... but I'm willing to talk to anyone about anything at this point.

 

ETA: I'm thinking that they're probably looking to help people that are a LOT sicker than I am... but it can't hurt to ask.

I hope it helps and that you get in by some sort of criteria.

 

My husband is convinced they will find that there is some kind of genetic disease that causes all these mutations in my family some day...but it'll be too late for me because we have no idea what to even to look for at this point.

[justashell]

Good luck with your application---maybe if enough people from these boards apply---then they'll see that there is a need.

[ADDflower]

My husband is convinced they will find that there is some kind of genetic disease that causes all these mutations in my family some day...but it'll be too late for me because we have no idea what to even to look for at this point.

 

And I am convinced that what a number of us have is not cushing's but something else that looks VERY MUCH like cushings but the whole cyclical thing makes it a "horse of another color". It's probably some sort of autoimmune disease or something.

 

Did you contact them Jane? You're way sicker than I am (I mean that in the nicest possible way *blush*)

[cat lady]

And I am convinced that what a number of us have is not cushing's but something else that looks VERY MUCH like cushings but the whole cyclical thing makes it a "horse of another color". It's probably some sort of autoimmune disease or something.

 

Did you contact them Jane? You're way sicker than I am (I mean that in the nicest possible way *blush*)

 

Not yet...and I would tend to agree with you. Would explain why our tumors are different among other things wouldn't it?

 

(and I toot my scooter horn and taken no offense by it so don't worry )..and as a side note...had to bite my tongue not to laugh as my cell phone went off in the doctor's office today playing..."I'm only human."

[MCF]

Steroid resistance, partial selective makes it highly variable from person to person, even within the same genetic group, for one thing.

 

I don't believe in autoimmunity as a cause of HPA axis abnormality, I think it's a result, but that's just my NSVHO. :-)

[ADDflower]

well anything is possible... I personally think that they will someday discover that most cancers are caused by a combination of genetic defects and viruses. Either separately or in concert with each other.

 

It is possible for an autoimmune disease to attack a specific system. But I'm making a completely uneducated guess too. The fact that so many of us have elevated white blood cell counts makes me wonder. But I also do not have a good grasp of the intimacies of the function of the HPA axis. This stuff is truly complicated and fascinating and while some of us have a better grasp than others we're only just scratching the surface. Much of the function of the pituitary (let alone the hypothalamus) isn't even understood at this time.

[gumdrop]

It sounds like a great program. The only problem is that so many, including a few on the boards have been told by NIH that they didn't have Cushings when clearly they did, pathology and all.

[cat lady]

Here's the official link from the news report

NIH Launches Undiagnosed Diseases Program

 

For Immediate Release

Monday, May 19, 2008

 

Contact:

Raymond MacDougall

NHGRI

301-402-0911

 

Sara Byars

NIH Clinical Center

301-496-2563

 

Kelli Marciel

Office of the Director, Office of Rare Diseases

301-496-4819

 

NIH Launches Undiagnosed Diseases Program

 

Clinical Researchers to Tackle the Most Puzzling Medical Cases

 

The National Institutes of Health (NIH) today announced a new clinical research program that will aim to provide answers to patients with mysterious conditions that have long eluded diagnosis. Called the Undiagnosed Diseases Program, the trans-NIH initiative will focus on the most puzzling medical cases referred to the NIH Clinical Center in Bethesda, Md., by physicians across the nation.

 

"A small number of patients suffer from symptoms that do not correspond to known conditions, making their care and treatment extraordinarily difficult. However, the history of biomedical research has taught us that careful study of baffling cases can provide new insights into the mechanisms of disease ? both rare and common," said NIH Director Elias A. Zerhouni, M.D., who has made a point during his six-year tenure at NIH of encouraging trans-NIH initiatives. "The goal of NIH?s Undiagnosed Diseases Program is two-pronged: to improve disease management for individual patients and to advance medical knowledge in general."

 

The new program, which got under way over the past month, is the culmination of efforts by William A. Gahl, M.D., Ph.D., clinical director at the National Human Genome Research Institute (NHGRI), part of the NIH; John I. Gallin, M.D., director of the NIH Clinical Center; and Stephen Groft, Pharm.D., director of the NIH Office of Rare Diseases (ORD). With the program infrastructure now in place, the program is ready to accept patients, the first of which is expected to be seen in July 2008.

 

"The NIH Clinical Center, the nation?s clinical research hospital, provides an extraordinary environment for excellence in both patient care and collaborative clinical investigation," said Dr. Gallin. "This new program will capitalize on a rich set of skills already at the Clinical Center to "help patients with unusual medical conditions. These patients often partner with us in clinical research to identify new diseases or new treatment."

 

To evaluate each patient enrolled in the new program, NIH will enlist the expertise of more than 25 of its senior attending physicians, whose specialties include endocrinology, immunology, oncology, dermatology, dentistry, cardiology and genetics. Dr. Gahl, who is an expert on rare genetic diseases, will serve as director of the new program.

 

"We have developed a stringent referral process to ensure this program deals with those cases that have truly confounded medical experts," Dr. Gahl said. "We will be very selective when it comes to patient eligibility. Our focus is strictly on conditions that have not been diagnosed."

 

To be considered for this NIH pilot program, a patient must be referred by a physician and provide all medical records and diagnostic test results requested by NIH. Patients who meet the program?s criteria ? as many as 100 each year ? will then be asked to undergo additional evaluation during a visit to the NIH Clinical Center that may take up to a week.

 

Two nurse practitioners will manage patient recruitment and logistics for the new program, which will utilize existing facilities and staff already at the NIH Clinical Center, NHGRI and ORD. Funding for the program includes $280,000 per year from the ORD.

 

In organizing the Undiagnosed Diseases Program, NIH has reached out to patient advocacy groups that often serve as a source of information and support for people struggling with mysterious ailments."We hope to build upon our strong working relationships with many patient advocacy groups. These organizations provide a crucial link in our nation?s efforts to improve human health through biomedical research," said Dr. Groft." We hope that this new partnership of NIH researchers, advocacy groups and patients will give hope for many Americans who now face troubling medical symptoms with no clear diagnosis."

 

For more information about the Undiagnosed Diseases Program, go to: http://rarediseases.info.nih.gov/Undiagnosed. Physicians and patients with specific inquiries may call the NIH Clinical Center clinical information research line, at 1-866-444-8806.

 

The NIH Clinical Center (CC) is the clinical research hospital for the National Institutes of Health. Through clinical research, physician-investigators translate laboratory discoveries into better treatments, therapies and interventions to improve the nation's health. For more information, visit http://clinicalcenter.nih.gov.

 

The NIH Office of Rare Diseases stimulates and coordinates research on rare diseases and supports research to respond to the needs of patients, health care providers and the research communities involved in the care, treatment, and evaluation of products for the prevention, diagnosis, or treatment of these conditions. For more information about ORD and its programs, visit rarediseases.info.nih.gov.

 

The Office of the Director, the central office at NIH, is responsible for setting policy for NIH, which includes 27 Institutes and Centers. This involves planning, managing, and coordinating the programs and activities of all NIH components. The Office of the Director also includes program offices which are responsible for stimulating specific areas of research throughout NIH. Additional information is available at http://www.nih.gov/icd/od/index.htm.

 

NHGRI is one of the 27 institutes and centers at the NIH, an agency of the Department of Health and Human Services. The NHGRI Division of Intramural Research develops and implements technology to understand, diagnose and treat genomic and genetic diseases. Additional information about NHGRI can be found at its Web site, www.genome.gov.

 

The National Institutes of Health (NIH) ? The Nation's Medical Research Agency ? includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. It is the primary federal agency for conducting and supporting basic, clinical and translational medical research, and it investigates the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit www.nih.gov.

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[justashell]

I have one concern: The definition of the word "rare". I hope you guys apply---and they find that you are indeed "rare" enough to get some work done.