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Thursday, January 30, 2014

NIH/NIA must understand we are people not research numbers.

I will be doing a series of guest blogs over the next few days featuring patients and families that are impacted by the closure of rare disease research by NIH/NIA. Patients are not satisfied with the response we have received from NIH/NIA. We want to get the message out that closing our research affected people not just numbers in a study. If patients don’t fight for this study who will? 

Kari Ulrich
Rare Disease Advocate

S.R. more than a number
Written by S.R.'s Mother
To: Collins, Francis (NIH/OD) [E]
Subject: Study

Re: Closure of IRB 2003-086 Clinical and Molecular Manifestations of Hereditary Connective Tissue Disorders

I am writing about IRB 2003-086, a long-term study of several rare disorders that was abruptly closed without explanation ( 
Worse, the access of the researchers to all the records and tissue samples has been cut off, and samples and records have been either stored or destroyed. I was a participant in that study. The protocol was an unprecedented look at a large group of people born with debilitating disorders (including Marfan, Ehlers-Danlos, and Stickler syndromes) over a long period of time, and invaluable data is at risk as well as the results of more than ten years of work. This is an irreplaceable loss to our patient communities. It will set back treatment for our disorders, too; much of what we now understand about these disorders has arisen from the 2003-086 study, and much, much more was waiting to be told.
It is absolutely imperative, for the health and welfare of hundreds of thousands of us in the US and millions around the world, that the data and tissue samples be preserved. It is also incredibly important to us that access to that information be returned to the doctor in charge of the study and researchers involved, who have been responsible for so much good in our community and who have such a long-term, intimate relationship with us as the subjects of that protocol. For this study to be cancelled without explanation is cavalier treatment toward people who already suffer with incurable disorders and deserve better, as do the tax payers who invested in more than a decade of research.
Please immediately take steps to preserve all the data and samples involved with 2003-086, and restore access to those involved. It is the right thing to do for the study subjects and the tax payers. 

Letter Written by S.R.'s Mother
I also want to add that Dr. Nazli McDonnell, the scientist who ran the study, has been an amazing person for the Vascular Ehlers Danlos patients, within the U.S. and internationally.  My son (age 5) was just diagnosed this summer.  It has been an overwhelming task to learn what activities he can safely do and which could end his life.  It is a rare disease and a deadly one.  It is incredibly frustrating to walk into doctor's offices and find that they don't know about the disorder and won't make the time to research it.  Vascular EDS patients and families often feel alone and abandoned, like no one cares.  But Dr. Nazli McDonnell cares.  She contacted me within days of learning the diagnosis and offered advice and hope.  I have met many others in the VEDS community and the majority of them have sought Nazli's aid.  If you have to go to the hospital or have an operation, you give the medical team Dr. McDonnell's phone number so she can advise them on what works and what doesn't.  She  has saved so many lives and she truly cares.  

She recently left the NIA/NIH and is taking a position elsewhere but it would benefit all the VEDS patients if she was allowed access to the samples and data of her study indefinitely so she can continue to advise our healthcare teams and families.  Please grant her that access so that we do not lose our Guardian Angel.

As for the samples, I want  a cure for my child, or a treatment.  Destroying or letting the samples rot away is a huge step AWAY from that goal.  Learning that my child had fragile blood vessels, and collagen - about 14% collagen in his body compared to 100% that most people have and that if he led a perfect life - he'd be lucky to live to age 48, but most expire in their 20's left me in a pool of tears.  I have other kids (S.R. is the only one with VEDS) and this stupid diagnosis consumed me.  The only thing that pulled me out of that depression was swearing to do all I could for him.  I have raised awareness (presented to first year med students, created t-shirts), raised money for research, taken my son to see Nazli and Dr. Dietz - the two top VEDS doctors, have him monitored as instructed, educated his school on how best to care for him, and bought medic alert bracelets.  I DO NOT want to take a step backwards.  I DO NOT want his sample destroyed.  I WANT A CURE AND I WANT NAZLI INVOLVED WITH THE VEDS COMMUNITY AND THIS STUDY.

Thank you,
(Signed a VEDS Mother)

NIA's Response:
From: "Cahan, Vicky (NIH/NIA) [E]" <>
Date: Dec 16, 2013 7:05 PM
Dear Ms. R:

Thank you for your e-mail to National Institutes of Health (NIH) Director Dr. Francis Collins and to scientists at the National Institute on Aging (NIA) about the NIA’s natural history study on inherited connective tissue disorders.  I am the Director of Communications at the NIA, and your note was forwarded to me for response.

We thank you for your interest and participation in the study. I am writing to help clarify some of the points that you have raised in your note, and the attached document should provide reassurance on issues of concern. While data collection has stopped, we want to assure you that the data collected over the course of the study are being organized and archived so that they can be made available as soon as possible to qualified researchers. No samples are being destroyed, unless a participant has formally asked that we do so.

Further, the attachment offers telephone numbers at NIA for patients who feel that their condition is not presently being addressed. Your note suggests, however, that you are working with knowledgeable medical team.
We thank you and your family for your valuable time and effort participating in this study. We very much appreciate your interest in NIH-supported research.


Vicky Cahan
Director of Communications
National Institute on Aging
National Institutes of Health

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