fibromuscular dysplasia support, education & advocacy
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Friday, March 21, 2014

Rare Disease Community Petitions Federal Government for Research Reinstatement

On Feb. 28, 2014, Rare Disease Day, FMD Chat's CEO/Chairman & Founder, Sarah E. Kucharski, and Patient Advisory Panel member, Fran Saplis, delivered a petition with more than 10,000 signatures and 16 supporting organizations to Dr. Francis Collins, director of the National Institutes of Health. The petition called for the reinstatement of research into connective tissue diseases, and the rare disease community's efforts to bring the study back resulted in a feature story on page A5 of The Wall Street Journal on March 20. The community now awaits an answer from Collins. 

Below is the letter Kucharski included with the petition. 

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Only through research will the medical community come to understand rare diseases like my own, fibromuscular dysplasia. In the fall of 2013, the National Institutes of Health cut a study headed by National Institute of Aging researcher Dr. Nazli McDonnell. The cut was made without warning and without satisfactory explanation to the patients involved. I was one such patient.

Although rare disease patients are champions of hope, I have little hope of a cure within my lifetime. Instead I hope that my contributions to research will help the patients who come after me. Like the patients diagnosed with the rare diseases addressed in this study, my hope suffers. Too little research is being done to cut projects — particularly those that are close to providing publishable conclusions. Such cuts impact the rare disease community as a whole.

“ I think of the rare disease problem as a giant jigsaw puzzle with 6000 pieces (the number of diseases). They are all related, but we don't yet for the most part know how,” Dr. Christopher Austin, director of the National Center for Advancing Translational Sciences (NCATS), part of the NIH, said in a December 2013 online conversation with Wall Street Journal reporter Amy D. Marcus.

So little known means there is so much to learn. Research into rare diseases also provides insight into more common diseases, making the return on investment that much greater. However, patients like me, patients who have invested limited time, energy, and resources into making themselves available to research only to see that research cut will come to learn that the NIH does not consider making a return on these patients’ investments worthwhile, and research participation will suffer.

The study I reference, project number NIA Protocol 2003-086 “Clinical and Molecular Manifestations of Heritable Disorders of Connective Tissue," aimed “to investigate cardiovascular, neurologist, pulmonary, and musculoskeletal disease, and pain and quality of life issues and Marfan, Ehlers-Danlos, Stickler syndromes and in closely related disorders that are collectively termed hereditary disorders of connective tissue. This study may lead to better medical care for patients with hereditary disorders of connective tissue."

The study featured a longitudinal arm and a mutational analysis arm. About 450 people were to be part of the longitudinal arm; another 1,385 enrolled in the mutational arm, and 2,000 people contributed samples to the National Human Genome Research Institute at the National Institutes of Health that would be analyzed under this study. A substudy was “to help investigators learn more about how genes affect the development and/or management of heritable disorders of connective tissue, such as Ehlers-Danlos, Stickler, Marfan Syndrome or an Overlap Connective Tissue Disorder."

Preliminary findings indicated that several patients had a family history of early death due to vascular events and “treatment with losartan or other angiotensin receptor blockers that modulate the pathway may be of benefit in the treatment of patients suffering from FMD” — patients like me. As is common with rare diseases, FMD has no treatment. Doctors do their best with limited knowledge to manage symptoms and surgically repair vascular damage. It took 31 years and a history of renal, celiac, and mesenteric bypass; bypass failure; kidney loss; four cerebral aneurysms; and a gastric rupture before I even achieved a diagnosis.

With this petition, signed by more than 10,000 people, I implore the NIH to reinstate NIA Protocol 2003-086 “Clinical and Molecular Manifestations of Heritable Disorders of Connective Tissue” such that the years of research, patient investment, and taxpayer dollars do not go to waste. Bring the study to completion and conclusions to publication. Do not compound rare disease patients’ suffering by casting aside the work that keeps hope alive and perhaps even some of us.
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The petition, which patient advocate Kari Ulrich initiated and championed, is still collecting signatures. To lend your support to the cause, click here

Thursday, February 27, 2014

Adult Rare Disease Patients Face Unique Challenges

Though fibromuscular dysplasia may be diagnosed in children, the rare vascular disease is seen much more commonly in adult patients. Adult patients represent only 25 percent of the rare disease community—7.5 million of the 30 million Americans who are impacted by rare disease. Most rare diseases are diagnosed when patients are children, and indeed, the majority of those children do not live to become adults.

However, being an adult patient presents its own unique set of challenges. Adult patients are their own advocates while attempting to balance the realities of life as an adult—spouses, jobs, children—and while managing their conditions. However, much of the rare disease community's language fails to recognize adults patients.

Here, one mother of an adult FMD patient shares her perspective:

My daughter is an adult with a rare disease—fibromuscular dysplasia. She is no longer a cute little kid, but she is still my child. The thought that you could lose your child breaks your heart, no matter what age. Even though she manages her own medical treatment and has the support of a wonderful husband, we have always been there for the surgeries, the invasive tests, and the long recuperations. When your child has a rare and serious disease you can never completely relax because the next ring of the phone may bring dreaded news. I try to not let the knowledge that I will never have grandchildren make me bitter. I confess that the probability that my husband and I will outlive our only child is a bleak prospect.

FMD Chat encourages adult patients to make their voices heard in the rare disease community on this Rare Disease Day, Feb. 28, 2014, and throughout the rest of the year. Help educate rare disease organizations such as the National Organization for Rare Disorders, the Global Genes Project, EURORDIS, and others about what it means for you to be a rare disease patient.

Thursday, February 13, 2014

#HCSM Review - Feb. 13, 2014, #RareDisease Edition

The Feb. 13, 2014 edition focuses on Rare Disease Day, an annual, awareness-raising event marked around the world that aims to educate the general public and decision-makers about rare diseases and their impact on patients’ lives. Rare Disease Day will be held on Feb. 28.

A disease or disorder is defined as rare in the USA when it affects fewer than 200,000 Americans at any given time. A disease or disorder is defined as rare in Europe when it affects fewer than 1 in 2,000. There are approximately 7,000 rare diseases. The lack of scientific knowledge and quality information on rare diseases often results in a delay in diagnosis and difficulties accessing appropriate care.

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Living in the Light
from Levi Gershkowitz
"These narratives are shared by individuals facing the challenges of life affected by rare genetic disease. They are aimed to promote an increase in public awareness about the prevalence of rare diseases, as well as an increase in patient advocacy."

MODDERN Cures: Who, What, and Why?
from Amy O'Connor
"More than 30 million Americans live with a rare disease, many of which have few or no treatment options. But there’s hope on the horizon. Public policies like the MODDERN Cures Act could incentivize the development of treatments and cures for unmet medical needs - such as autoimmune diseases, neurological conditions, cancer, and rare diseases."

#RarePOV Conversation Generates Strong Enthusiasm for RDD
from Stephanie Fischer
"Recap of last week’s #RarePOV tweetchat during which leading rare disease advocacy organizations and individual patient advocates came together to share resources and plans for the upcoming international Rare Disease Day. More than 100 individuals and organizations participated, generating more than 680 tweets in the hour-long conversation."

One in Billions: Rare Disease Day 2014
from Emily Bradley
"One rheumatologist explained to me that treatment options for many rare disease patients sit, waiting, behind an “unbreakable glass wall.” Patients suffer for years—many die—because they cannot afford the few treatments available. With just enough income to keep me at the poverty line, I was unable to receive full funding assistance. I fought for that medication the way I fought to get out of bed. I fought to find resources, help, anything, anyone, while I also fought to brush my teeth every morning. I found myself constantly internally screaming, why does no one fight for me or with me?"

Rare Diseases 2.0 - A Business-Oriented Blueprint for the "RARE" Universe
from Yoni Maisel
"Collectively we have gained the attention of those who can influence and impact our futures. Opportunities exist like never before. But with almost 7,000 Rare Diseases, there will not be opportunity for all."

Para...what?
from lovehopeandcourage
"In March our eldest daughter Tayla, who was just 12 at the time, was diagnosed with a rare neuroendocrine tumour called a Paraganglioma, a Para what I hear you say…exactly! This is something we were never, ever expecting or would have ever dreamed of going through, again."

Treating illness and preventing disease with genetic testing
from The Conversation
"Genome sequencing has the potential to improve the diagnosis of conditions caused by changes in the DNA and indicate what treatments may be most effective. Importantly, it may also red-flag treatments likely to cause adverse reactions."

Dr. Groft of NIH on New Hope for Rare Disease Research and Treatments
from PhRMA
"While there has been amazing progress, the road ahead is still at times daunting as we strive to find better, quicker and less expensive methods to translate research discoveries into new interventions that meet safety and efficacy requirements. The encouraging news is that the rare diseases community appears stronger than ever, and there has been no better time in history to build on existing momentum and resources."

What are the biggest challenges for the rare disease community in 2014?
from pharmaphorum
"Patients can't benefit from new treatments and other medical advances if they can't get an accurate diagnosis. And diagnosis clearly remains an issue for the rare disease community."

Two Children, One Rare Disease and Their Mother Who is Making a Difference
from Parade
"Jana Monaco misses memories of what might have been. Her son’s first day of kindergarten. His Little League games. Prom pictures. The life experiences we all take for granted ended abruptly for Stephen Monaco almost 13 years ago when a rare disease, isovaleric acidemia (IVA), left him permanently disabled, both physically and intellectually, at the age of 3."

Advocates Fight for Justina Pelletier, Teen Held by State in Psych Ward
from ABC News
"Justina was diagnosed with somatoform pain disorder, a psychiatric condition when a person experiences physical pain for which no known medical explanation can be found, according to her family. The case highlights a growing concern among those with rare diseases and autoimmune disorders that physical symptoms that cannot be explained will be dismissed by doctors as psychosomatic."

Look to Mary Pat Whaley at Manage My Practice
for the next #HCSM Review on March 5, 2014.

Sunday, January 5, 2014

FMD Chat Partners with Smart Patients to Provide Support for Fibromuscular Dysplasia

With 2014 comes a big change to FMD Chat. FMD Chat has partnered with Smart Patients to create a new community that brings with it considerable benefits such as more privacy and the ability for FMD Chat to engage in observational research that may help doctors understand more about the disease and its impact. The partnership between FMD Chat and Smart Patients is an exclusive partnership.

Patients want to help other patients, providers, and caregivers learn about their disease; however, health conditions challenge Facebook's "more sharing always is better" philosophy. It is becoming increasingly more difficult to maintain privacy for those who want it and to keep "normal life" and "medical life" separate on Facebook, so many of Facebook's advantages also become its disadvantages. Facebook "friends" often play additional roles in our lives such as cousins, co-workers, business contacts, people with whom we don't necessarily want to share personal health information. Facebook users may inadvertently disclose something about their health conditions simply by being a member of a group or liking a page, which other Facebook users may be able to see.

In an effort to expand our network while facilitating more private discussions, FMD Chat partnered Smart Patients. Smart Patients is a community entirely apart from Facebook and thus does not limit those who wish to connect with FMD Chat to only being those who have a Facebook account. Smart Patients is available to anyone who has access to the internet, and its community has a medically-influenced approach to information sharing — unlike other social networking sites that open their platforms to advertising, make posts accessible through search engines, and put the burden on users to employ privacy options. Although Smart Patients is not subject to the Health Information Portability and Accountability Act, the platform meets or exceeds the HIPAA de-identification standard in creating statistical, anonymous information about its users. (Read Smart Patient's Privacy Police here.)

Smart Patients was founded by Roni Zeiger and Gilles Frydman. Zeiger is the former Chief Health Strategist atGoogle, where he led efforts ranging from Google Flu Trends to Symptom Search. In 2012, he and Gilles co-founded Smart Patients, in order to amplify the knowledge created by networks of engaged patients. Zeiger serves as CEO of Smart Patients and continues to see patients part time at a local urgent care center. Frydman is a pioneer of medical online communities. In 1995 he founded theAssociation of Cancer Online Resources, the largest online social network for cancer patients. He is a founding editor of the Journal of Participatory Medicine and a founding member and former President of the Society for Participatory Medicine. Frydman is now co-founder and Chief Strategy Officer of Smart Patients.

Zeiger says, "I happened to learn about FMD in medical school, but it's barely in the consciousness of doctors, except for occasional academic discussions about obscure causes of high blood pressure. I think we're finally approaching a time where we understand the underlying causes of many diseases well enough that we can start to connect the dots between many so-called 'long tail' diseases. This hopefully means that research about other connective tissue diseases can shed light onto FMD and vice versa. We want to help tap into the expertise of patients with rare diseases and allow them to help uncover these connections. While FMD would be our first connective tissue disease community, we expect and hope others will follow, and we want the Smart Patients platform to facilitate knowledge dissemination between communities when that can be useful. Not only is this possible, I think it's essential to speeding up discovery in rare diseases which never have enough resources to do it alone."

Social media is and will remain an integral part of rare disease patients' ability to create a sense of community. According to a Pew Internet & American Life Project report based on a phone survey of 3,001 American adults and online survey of 2,156 National Organization of Rare Disorders members, one in four internet users living with high blood pressure, diabetes, heart conditions, lung conditions, cancer, or some other chronic ailment (23%) say they have gone online to find others with similar health concerns. A greater proportion of internet users living with less common, chronic health problems have gone online to find others with similar health concerns.

For a video tutorial about Smart Patients, click here.


Saturday, November 30, 2013

NIA Kills Ten Years of Research, Patients Petition for Study Reinstatement

FMD patient Kari Ulrich has been a leading voice in the community for years. Upon learning that a National Institutes of Aging study in which she was a participant suddenly was closed, Ulrich began to call attention to the study's closure and push government leaders to recognize what impact the study's closure will have on the patient community. Here Ulrich shares her thoughts on the study and the petition she began to bring it back. 

The gift of affirmation is not easy to come by when diagnosed with a rare disease, but that is the gift I received from Dr. Nazli McDonnell almost a decade ago. My name is Kari Ulrich and I started a petition to reinstate National Institute of Aging Protocol 2003-086 “Clinical and Molecular Manifestations of Heritable Disorders of Connective Tissue." I am a patient with a complex history of Ehlers Danlos and Fibromuscular Dysplasia.

My family and I traveled from Minnesota to Baltimore to participate in Dr. McDonnell’s study. After years of unexplained symptoms and misdiagnosis, it was in that visit with Dr. McDonnell that I finally gained understanding along with validation of my symptoms.

I will never forget how scared I was to meet a distinguished researcher, not knowing what to expect. Dr. McDonnell had a way of putting me at ease, and for the first time I knew I was getting the help and care I so desperately needed. Dr. McDonnell examined me from head to toe. Throughout the exam she gave me insight as to why I had to walk with a cane during my pregnancies and why I had so many bladder issues from childhood into adulthood. The list of objective findings from blue sclera to hyper-mobile joints was explained to me in a way I could understand. I was fortunate my family was with me. We left understanding the genetics of my disease and what to watch for in our children. The knowledge we gained from Dr. McDonnell's then helped my doctors in Minnesota care for me.

My family and I were devastated when we received a letter stating that Dr. McDonnell's study, one in which so many patients like me had participated, suddenly was closed with no explanation. It is very difficult to put down in words what a throwing away a decade of research means to patients who have a rare disease. There has been so little research done on Fibromuscular Dysplaisa let alone its possible overlap with other connective tissue diseases such as Ehlers Danlos as Dr. McDonnell was studying. Our medical community has a few case studies, but not a cohort of patients such as this study was providing.

I can not stress enough the importance of Dr. McDonnell's study, let alone the importance of having a researcher who is familiar with connective tissue disease and its impacts on patients' lives. We must come together across disease communities to make our voices heard, get all of our questions answered, and demand that the NIA allow Dr. McDonnel to continue her work. The petition to reinstate NIA Protocol 2003-086 “Clinical and Molecular Manifestations of Heritable Disorders of Connective Tissue" has collected more than 5,000 signatures—and we are calling for 5,000 more. I ask you to please consider signing and sharing the petition, contacting your federal government officials, and putting in writing the impacts that rare disease has had on you. You also may consider contacting the National Institute of Health and National Institute of Aging officials who follow:

Dr. Francis Collins
NIH Director
Email: collinsf@od.nih.gov
Office: 301.496.2433

Dr. Richard Hodes
NIA Director
Email: hodesr@31.nia.nih.gov
Office: 301.496.9265

Dr. Michael Gottesman
Deputy Director Intramural Research
Email: GottesmM@mail.nih.gov
Office: 301.496.1921