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 (http://www.grc.nia.nih.gov/studies/ctd.htm). 

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]" <cahanv@31.nia.nih.gov>
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.

Sincerely,

Vicky Cahan

Director of Communications

National Institute on Aging

National Institutes of Health

How can you help? By taking action! 

Sign our petition CLICK HERE

Raise Awareness, Fight for Treatment and Find a Cure.

Alone we can do so little; together we can do so much. —Helen Keller

Helen Keller's words give rare disease patients the strength to carry on.

We have over 8,800 signatures supporting our petition for rare disease research. It is our goal to get 10,000 signatures to present to NIH/NIA. I remain confident that with each signature we are spreading awareness.

Petition: http://chn.ge/1bsPjZo

February is around the corner, thoughts of our loved ones are in our minds with Valentines Day. But there is another day that comes to mind for rare disease patients everywhere, February 28, 2014 Rare Disease Day. Rare Disease Day signifies the value of patient organizations united together with our voice. We are empowering each other to raise awareness, fight for treatment and ultimately find a cure.  

So today I would like to thank each organization for collaborating with each other for the betterment of the patient. I also would like to thank all the patient communities that have come together from EDS and Sticklers, to FMD and Brain Aneurysms, Marfans there are too many to list. Although we are far from done with our mission we will continue to support and care for each other in years to come. 

Global Genes Project

Rare Disease Legislative Advocates

Genetic Alliance

EDS Network Cares

FMD Chat

Dysautonomia International

Marfans Foundation

Rare Connect

NORD

Orphanet FRANCE

Croatian Alliance for Rare Diseases

The Joe Niekro Foundation

EDS Today

EDNF

CEDSA

Orphan Druganaut Blog

I encourage other organizations to get involved and help make a difference for the good of the patient. Today I am reaching out to all rare and genetic disease patient organizations and I am asking you for your support. 

Restoring the study will return hope, continuing the extensive work done over the last 10 years. It will ensure all the progress we have made will not have been in vain and keep us on a path to a cure. 

If the NIH continues with their current plan to end the study it will leave patients and their families without a place to turn for answers and send a message our lives are not worth the investment of finding a cure. Even worse, the samples and results already gathered could be lost, leaving scientists to start over.

Warm Regards,

Kari Ulrich
kaulrich@me.com

Fibromuscular Dysplasia Patient Experience, Struggles, and Living with FMD

Request to Governor Dayton: Rare Disease Day Minnesota

January 14, 2014

Dear Governor Dayton:

I am writing to ask you to declare that February 28, 2014, will be Rare Disease Day in Minnesota.  On that day, millions of people across the U.S. will join the National Organization for Rare Disorders (NORD) in observing this special awareness day.  

As a resident of Minnesota, I believe this is important because national statistics would indicate that nearly 1 in 10 of those living in our state have rare diseases.  According to the National Institutes of Health (NIH), nearly 30 million Americans have rare diseases.

A disease is considered rare if it affects fewer than 200,000 Americans.  There are nearly 7,000 such diseases according to NIH.  They tend to be serious and/or lifelong, and approximately two-thirds of those affected are children. 

Special events and activities are planned in schools, hospitals, universities and medical schools for February 28^th.  Individuals and families affected by rare diseases will be sharing their stories on social media; in radio, TV, and newspaper interviews; and at community events throughout Minnesota and across the U.S.

On the official national website for Rare Disease Day in the U.S. (www.rarediseaseday.us) hosted by NORD, residents of our state will be posting photos and messages, information about special events they are planning, and tributes to caregivers who have made a difference in their lives.  Our state’s support for Rare Disease Day also will be noted for all to see.

Minnesota has a strong history of support for its citizens’ causes. I hope that, as a state, we will step forward to show our concern for those who might otherwise feel isolated and let our neighbors living with rare diseases know that, while their diseases are rare, they are not alone.

With best regards,

Kari Ulrich

Rare Disease Advocate
Albert Lea, MN 56007

What exactly was lost in protocol 2003-086?

Dear Governor Dayton, Senator Franklin and Senator Klobochar,
Please on behalf of patients asked why this study was closed with out a reasonable cause. Ask to have it reinstated under the Lead Investigator Nazli McDonnell immediately.

What exactly did families, patients and the medical community loose when NIA decided with no reasonable explanation to stop  protocol 2003-086?
This is what was lost: (https://gentac.rti.org/TheTeam/ClinicalCenters/NIAatHarborHospital.aspx)

The National Institute on Aging (NIA) maintains a cutting-edge clinical research unit at Harbor Hospital, Baltimore. Under the direction of Dr. Nazli McDonnell at the NIA clinical unit, more than 800 patients from around the world have been enrolled in a natural history study of hereditary disorders of connective tissue. The patients enrolled in longitudinal follow-up receive a comprehensive 2-day evaluation, including genetic testing, medical examinations, and cardiovascular imaging studies. Many of these patients meet the eligibility criteria for and are recruited into the GenTAC Registry during their visit to the NIA facility.

Nazli B. McDonnell, MD, PhDPrincipal Investigator

Nazli B. McDonnell, MD, PhD, has been an NIA clinician in medical genetics since 2003. Her research is focused on clinical and molecular investigations of hereditary disorders of connective tissue, in particular EDS, Marfan syndrome, Stickler syndrome, hereditary aneurysm syndromes, and fibromuscular dysplasia. Dr. McDonnell is investigating the natural history of these disorders, and studying genotype/phenotype correlations and molecular and cellular mechanisms and exploring treatment strategies using plasma and tissue samples from affected patients. In collaboration with Dr. Mark Talan at the NIA Laboratory of Cardiovascular Science, Dr. McDonnell has been working with a mouse model of vascular EDS to discover and assess treatment strategies. She is also investigating the role of tenascin X mutations and deletions in hypermobile EDS and congenital adrenal hyperplasia together with Dr. Deborah Merke of the Eunice Kennedy Shriver National Institute of Child Health and Human Development

Who did it affect?

Me (Kari Ulrich) and my two amazing boys!