FMD Chat - Fibromuscular Dysplasia Support

FMD Chat Officially Ceases Operations

noreply@blogger.com (FMD Chat) — Fri, 20 May 2022 02:58:00 +0000

After nearly 10 years as an organization, FMD Chat officially ceased operations on May, 18, 2022 by unanimous board approval.

The organization had unofficially discontinued in 2017 when founder and President Sarah Kucharski was forced to step back from patient advocacy due to personal health matters. Although Kucharski hoped to perhaps one day return to her advocacy and leadership roles, she suffered a severe stroke during surgery to repair a brain aneurysm in March 2019.

"It' has now been just more than three years since my stroke, and unfortunately my recovery is not such that I can be an effective leader for FMD Chat,” Kucharski said., my recovery period has coincided with Covid, which has shown us just how abruptly and dramatically the world can change for so many. FMD Chat is fortunate that we still have the people necessary to bring the organization to a formal end, but it would be irresponsible for me to further delay taking the appropriate steps to wrap up business. "

As a final order of business and In accordance with organizational bylaws, board members voted unanimously to allocate FMD Chat's remaining funds to support FMD research. Given that Dr Santi Ganesh, David J. Pinsky Endowed Professor of Cardiovascular Medicine and Associate Professor, Department of Internal Medicine in the Department of Human Genetics at University of Michigan, published the first clinically actionable findings pertaining to fibromuscular Dysplasia, Funds are being contributed to Dr Ganesh via the University of Michigan’s Frankle Cardiovascular Center Research Fund (309433).

Board members then unanimously voted to dissolve FMD Chat as a nonprofit corporation file and Articles of Dissolution with the NC secretary of state,

“In all honesty I probably never should have turned FMD Chat into a nonprofit organization, what first drew me to the idea of creating a support group for patients and caregivers were the people and the connections people made with one another,” Kucharski said. “Having a rare disease can be incredibly lonely. I know of a few friendships that started in our Facebook group 10 years ago that remain strong today. When I had to step back in 2017, thankfully some of my fellow FMD patients stepped in to become administrators and moderators of our private group on Facebook— Dani, Kaitlyn, Chris, Carol, Elizabeth, Amy and Chris. Without them there to pick up and carry the mantle, that community would have been lost. I am forever thankful for all the people I met along the way and the opportunities I had to bring some attention to fibromuscular dysplasia. People need People— FMD patients need you.

Although FMD Chat is no longer an official organization. You can still find patient to patient support:

at Rare Connect

On Facebook

And on Smart Patients

Lighting Up The Night For Rare Disease Patients

noreply@blogger.com (FMD Chat) — Sun, 19 Feb 2017 08:41:00 +0000

The North Carolina Rare Disease Advisory Council is calling on state residents to join in celebrating Rare Disease Day at the end of February.

Rare Disease Day is an international awareness event drawing attention to the more than 7,000 rare diseases in the world and raising awareness among policy makers, public authorities, industry representatives, researchers, health professionals and anyone else who has a genuine interest in rare diseases. In support of rare diseases, Gov. Roy Cooper has proclaimed Feb. 28 as Rare Disease Day in North Carolina.

North Carolina has established itself as a leader in the improving the lives of rare diseases by creating an unique collaborative partnership between patients, providers, scientists, agencies and industry. The state General Assembly passed House Bill 823 establishing the Advisory Council on Rare Diseases housed within the School of Medicine at UNC Chapel Hill in 2015. The council’s role is to advise the Governor, the Secretary, and the General Assembly on research, diagnosis, treatment, and education relating to rare diseases.

In the U.S., a disease is defined as rare when it affects fewer than 200,000 Americans at any given time, according to the National Organization for Rare Disorders. Approximately 30 million patients — 1 in 10 people — live with a rare disease.

“As the mother of a child who died from a rare disease, I know a disease doesn’t feel rare when it happens to your child and your family,” said Leisa Greathouse, of Fayetteville, a member of the N.C. Rare Disease Coalition, a group of rare disease advocates including patients and caregivers that plays a supporting role to the state's Advisory Council.

Greathouse's son, Samuel, was diagnosed with Langerhans cell histiocytosis at UNC Children's Hospital before he was a year old. Samuel underwent chemotherapy because it is one of the few indicated treatments for the disease, and most of his life was spent in the hospital. He had approximately 100 blood transfusions, nearly 200 X-rays, and 4 surgeries before passing away at age two.

Some rare diseases — like cystic fibrosis, Lou Gehrig’s and multiple sclerosis — are more familiar to the general public than other rare diseases. Approximately 50 percent of people with cancer have a rare type of cancer including brain, pancreatic, ovarian, thyroid and stomach cancers and all pediatric cancers. Many rare diseases result in premature death for infants and young children or become progressively debilitating and lead to fatality in early adulthood.

“After our son’s death, we began learning as much as we could and raising awareness so that we could help support other families and contribute to research,” said John Rista, of Charlotte, also a member of the N.C. Rare Disease Advisory Coalition. Rista’s son, Johnny, was diagnosed with alveolar capillary dysplasia and died when he was 12 days old. The disease causes blood vessel malformations in the lungs, typically leading to pulmonary hypertension and infant fatality in almost every occurrence.

In Charlotte, a teal, pink, green and purple beacon will shine from a recognizable landmark on the city's skyline Feb. 26, as Wells Fargo’s Duke Energy Center lights up in recognition of Rare Disease Day. The colors evoke the logo for Rare Disease Day. The North Carolina Rare Disease Advisory Coalition requested the light display at the Wells Fargo’s Duke Energy Center in order to raise awareness and spark interest in North Carolina's residents involvement in the day.

“Wells Fargo’s Duke Energy Center is such a recognizable landmark on the Charlotte skyline,” said Sarah E. Kucharski, a fibromuscular dysplasia patient who lives in Charlotte and is a member of the N.C. Rare Disease Advisory Coalition. “We hope everyone will enjoy the teal, pink, green and purple colors of the Rare Disease Day logo and be motivated to learn more about rare diseases.”

Fibromuscular dysplasia is a complex disease most commonly seen in women and typically discovered when the patient is between the ages of 20 and 60 years old. Patients may be asymptomatic and achieve diagnosis only upon an incidental finding, or patients may suffer serious and debilitating events, depending on the severity of their disease. Symptoms may include stenosis, aneurysm or dissection most commonly in the renal and carotid arteries, migraine-like headaches, dizziness, and tinnitus or a swooshing sound in the ears. Over five years, Kucharski underwent triple bypass surgery, a nephrectomy, and brain aneurysm repair in addition to suffering a stroke at 27 and a gastric rupture at 30.

Despite rare diseases’ prevalence, rare disease patients often struggle to achieve diagnosis and treatment. The average time for diagnosis is 7.2 years, and only 5 percent of rare diseases have treatments. As a whole, there are more people who live with a rare disease than all those diagnosed with HIV, heart attack or stroke.

“We can no longer hide behind the word ‘rare’ because rare is really not so rare at all,” said Sharon King, a Charlotte resident whose daughter Taylor is diagnosed with Batten Disease. “With 30 million Americans and 350 million people globally living with a rare disease, rare affects each and everyone of us.”

King’s daughter Taylor was a bright and lively girl with the hopes of being a pop star or veterinarian when she was diagnosed with Batten disease at age 7. A neurodegenerative disorder in which symptoms begin to appear when a child is 2 to 10 years old, Batten disease symptoms include vision loss, loss of speech and motor skills, mental impairment, and seizures that become increasingly debilitating and eventually lead to death. Now 18, Taylor requires 24-hour care.

King was a driving force behind the creation of the state-established Advisory Council, on which she serves as the patient representative, and is chair of the N.C. Rare Disease Coalition.

“I know all too well the cost of rare disease both in terms of human suffering and economic impact,” King said.

For more information about Rare Disease Day and ways to participate, visit rarediseaseday.org. To learn more about the N.C. Rare Disease Advisory Council, visit med.unc.edu/ncrarediseasenetwork. North Carolina’s rare disease patients and family members are encouraged to connect with the N.C. Rare Disease Advisory Coalition at facebook.com/ncrarediseasecoalition and @ncraredisease on Twitter.

It's Rare Disease Week in Washington!

noreply@blogger.com (FMD Chat) — Mon, 29 Feb 2016 05:41:00 +0000

The world marks Rare Disease Day on Feb. 29, 2016 and fibromuscular dysplasia patients will be in Washington, D.C. to increase awareness of the disease and policies impacting the rare community. Rare Disease Week on Capitol Hill brings rare disease community members from across the country together to be educated on federal legislative issues, meet other advocates, and share their unique stories with legislators. You can join in as a supporter!

On Monday, advocates and members of the general public are invited to join the National Center for Advancing Translational Sciences and the National Institutes of Health (NIH) Clinical Center, for presentations, posters and exhibits, an art show, and tours. The event is free, and a live webcast will be available for those who can not attend in person.

Tuesday brings Rare Disease Legislative Advocate's conference. Advocates from across the United States join together to review critical legislation and practice effectively communicating with Congressional representatives and their aides. Sarah E. Kucharski, FMD Chat founder and CEO, will play an advocate actress in an on-stage simulation to train fellow advocates how to — and not to — engage with Congressional representatives. In addition, she will serve as a team leader this year, helping guide advocates new to the lobbying process.

“It is an incredibly meaningful experience to work with rare disease advocates who are inspired to tackle complex issues,” Kucharski said. “These issues are about more than disease-specific awareness or cures — they’re about improving healthcare as a whole.”

On Wednesday, advocates will set out upon The Hill for meetings. Due to time constraints and scheduling demands, meetings tend to be brief, and advocates do not learn of their meeting schedule until the day before or even morning of the lobbying day. Advocates represent their geographic locations and are strategically paired to assist one another. Those who are unable to attend in person, are encouraged to learn more about RDLA's state level advocacy programs.

The Rare Disease Caucus Briefing and Rare Artist Reception conclude Rare Disease Week’s legislative activities on The Hill on Thursday.

Follow FMD Chat on Facebook and Twitter for updates from D.C.

Connections Between Fibromuscular Dysplasia and Spontaneous Coronary Artery Dissection

noreply@blogger.com (FMD Chat) — Wed, 28 May 2014 05:15:00 +0000

Recent studies have linked two rare conditions, fibromuscular dysplasia and spontaneous coronary artery dissection.

FMD and SCAD are most commonly seen in women. FMD's presentation may include dissection or aneurysm most commonly in the renal and carotid arteries, migraine-like headaches, dizziness, and tinnitus. SCAD occurs when the inner layer of an artery tears, creating a blood clot or blockage that results in acute coronary syndrome, heart attack or sudden death.

According to research presented at the First International FMD Research Network Symposium held at Cleveland Clinic this May, more than 40 to 50 percent of SCAD patients may also have FMD, though the prevalence is uncertain at this time, said Dr. Sharonne Hayes, who directs and practices at the Women's Heart Clinic at Mayo Clinic in Rochester, Minnesota. Research shows that SCAD patients also diagnosed with FMD are at an increased risk for dissections in many arterial beds.

SCAD may occur with little warning. Some patients report high levels of emotional stress or physical exertion prior to experiencing a dissection, Hayes said, but for many others the cause is unclear. Research indicates FMD may be a causative factor, yet a relationship between the severity of FMD and an occurrence of SCAD has not been determined. Patients may present with minimal evidence of FMD found through only through imaging, or patients may present with bruits, a sound heard within an artery as blood rushes by an obstruction, or symptomatic extracoronary aneurysms or dissections. Recommendations are for symptomatic patients or those with a family history suggestive of significant vascular events to undergo CT angiography from neck to pelvis with additional intracranial imaging if necessary.

Dr. Jacqueline Saw of Vancouver General Hospital reported the first case study of SCAD and concomitant coronary FMD in Circulation earlier this year. "Although not all SCAD patients have CFMD, it is important to exclude FMD, as involvement of other vascular territories have long-term consequences," the article states.

SCAD research is shaping FMD experts' knowledge of the disease and patient evaluation.

In 2002, the U.S. Preventive Services Task Force began recommending that patients at high risk of developing cardiovascular disease — acute coronary syndrome or thrombotic cerebral vascular disease — take low-dose aspirin as a primary preventative. This year the Federal Drug Administration has come out against the therapy for the prevention of heart attack or stroke; however, aspirin still is recommended for as a preventative for patients who have experienced a prior event.

The treatment presents a complex risk-benefit analysis. There is evidence to support the recommendation of up to 81 mg of aspirin daily for patients diagnosed with cerebrovascular FMD, regardless of symptoms, reported Dr. Jeffrey Olin, Director of Vascular Medicine and the Vascular Diagnostic Laboratory in the Zena and Michael A. Wiener Cardiovascular Institute and Marie-Josée and Henry R. Kravis Center for Cardiovascular Health of The Mount Sinai Medical Center, during the International FMD Research Network Symposium. Aspirin's use in renal FMD patients is less clear, Olin said.

"There is no evidence that aspirin prevents SCAD, and it should not be used for primary prevention in women, whose bleeding risk from aspirin is higher than men, and in the case of an undiagnosed cerebral aneurysm in an FMD patient could be catastrophic," Hayes said.

Given these recent findings, FMD Chat is collaborating with the SCAD Alliance to provide more information about the diseases' overlaps.

Newly Published Research Sheds Light on Possible Treatments for FMD

noreply@blogger.com (FMD Chat) — Thu, 17 Apr 2014 21:06:00 +0000

FMD Chat is pleased to be able to share excerpts from research just published in the Federation of American Societies for Experimental Biology Journal: Clinical and biochemical profiles suggest fibromuscular dysplasia is a systemic disease with altered TGF-B expression and connective tissue features, by Santhi Ganesh, Rachel Morissette, Zhi Xu, Florian Schoenhoff, Benjamin F. Griswold, Jiandong Yang, Lan Tong, Min-Lee Yang, Kristina Hunker, Leslie Sloper, Shinie Kuo, Rafi Raza, Dianna M. Milewicz, and Nazli B. McDonnell.

"Virtually no new information on FMD pertaining to mechanisms of disease has been published in the last 4 decades (5). Currently there is no medical therapy aimed at preventing progression or treating the underlying vascular pathology. Furthermore, there are no biomarkers or defined clinical features to identify who is at risk or who has the disorder... We undertook a deep phenotyping study of 47 individuals with FMD to evaluate relevant genetic, clinical, and anatomic features of this vascular disease...

Recent data have suggested that FMD represents a systemic vasculopathy, with the finding of a clinical manifestation of the disease in multiple arterial beds in at least one-third of patients (20). However, systematic evaluation for clinical and musculoskeletal features has not previously been performed. Our results indicate that FMD is a systemic disease with clinical features that extend beyond arterial pathology to include low bone density, joint laxity, and degenerative disease in the spine. The major clinical manifestations of FMD in our study are related to the vascular pathology and pain often related to early onset arthritis and degenerative joint disease in the spine...

The demographics and clinical histories of our subjects closely align with a U.S. registry of 447 patients with FMD (20) despite differences in study methodologies. We also are aware of 12 subjects enrolled in our cohort who are also enrolled in the same U.S. registry. Similar features included percentage of female sex (91.5 vs. 91.0%), mean age at presentation (44 vs. 47 yr), prevalence of hypertension (66.0 vs. 72.0% at study enrollment), headache (53.2 vs. 60.0%), current or former history of smoking (38.3 vs. 37.2%), and a history of exogenous hormone use (61.7 vs. 69.6%). However, in our study, 21.3% of our subjects had undergone surgical treatment for FMD with histopathologic confirmation, in contrast to 3.3% in the U.S. registry. A higher proportion of our cohort had experienced experienced a cerebrovascular event (48.9%) as compared to the U.S. registry, which noted TIA in 8.7% and stroke in 6.9% of its participants. This may reflect an ascertainment bias for patients who are more severely affected in being motivated to undertake the travel requirements for participation at the NIH. Our cohort did not include any individuals with asymptomatic disease discovered incidentally, whereas the U.S. registry included 5.6% with no symptoms or signs. In our study, surveillance MRA imaging of the entire arterial tree showed that 53.2% of our study subjects had vascular disease (aneurysm, beading, stenosis, or dissection) involving more than or equal to 2 arterial beds. Multiple vascular bed involvement was noted in 26.0–35.3% of patients with FMD in the U.S. registry who had imaging performed on additional arterial territories as clinically necessitated. Several caveats to the interpretation of our study MRA findings include that motion artifact from breathing is generally problematic for abdominal studies, previously treated arterial beds in cases of prior surgery or stent implantation could not be assessed, and we were unable to study every subject in the cohort because of contraindications to MR and/or gadolinium contrast administration. These caveats may have led to underestimating the severity and burden of systemic disease. Brain MR imaging is less susceptible to motion artifact, and we found that 12.8% of subjects had an intracerebral aneurysm. In the U.S. registry, 9 of 76 (11.8%) individuals with imaging data had a cerebral artery aneurysm, and 16 of 76 (21.1%) had carotid artery aneurysm, including both extracranial and intracranial internal carotid artery. Overall, the close alignment of demographic variables in our study as compared to the U.S. registry indicates that our cohort is a representative sample of U.S. patients with FMD, but likely with more severe clinical disease...

These findings have potential clinical implications. Our data suggest that an evaluation of degenerative spine arthritis and bone density may be helpful in identifying the cause and possible therapies for musculoskeletal symptoms. The yield of genetic testing for currently known connective tissue dysplasias in the FMD population is low in the absence of features that would otherwise indicate specific genetic testing, consistent with another published study (21). Given the rapid evolution of our understanding of vascular genetic diseases, formal genetic evaluation of patients with connective tissue features may be helpful to rule out other potentially overlapping disorders where FMD can be seen, such as vascular or type IV EDS. Finally, anecdotal evidence supports the rationale for therapy for FMD with pharmacologic agents that are known to decrease vascular TGF-B expression; (48) however, it is premature to make this treatment recommendation without a clinical trial. Further studies to identify the underlying molecular defect in FMD will be needed to clarify these issues."

The full text of this article is available for purchase from The FASEB Journal.

Rare Disease Community Petitions Federal Government for Research Reinstatement

noreply@blogger.com (FMD Chat) — Sat, 22 Mar 2014 03:33:00 +0000

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.

______________

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.

______________

The petition, which patient advocate Kari Ulrich initiated and championed, is still collecting signatures. To lend your support to the cause, click here.

Adult Rare Disease Patients Face Unique Challenges

noreply@blogger.com (FMD Chat) — Fri, 28 Feb 2014 04:47:00 +0000

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.

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

noreply@blogger.com (FMD Chat) — Thu, 13 Feb 2014 17:42:00 +0000

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.

___________

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.

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

noreply@blogger.com (FMD Chat) — Mon, 06 Jan 2014 03:15:00 +0000

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.

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

noreply@blogger.com (FMD Chat) — Sat, 30 Nov 2013 19:53:00 +0000

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

FMD Chat Together 2013 — Sharing is Caring

noreply@blogger.com (FMD Chat) — Fri, 13 Sep 2013 06:20:00 +0000

In an effort to reach out to the fibromuscular dysplasia community, FMD Chat will be making much of its annual retreat available via the web.

While no livestream can replace the experience of meeting other FMD patients and caregivers face-to-face, FMD Chat realizes that many patients are unable to travel due to physical or financial constraints. Patients and others are encouraged to tune in to FMD Chat's YouTube channel from 9:30 a.m. to 3:30 p.m. ET on Saturday, Sept. 14 as presentations are streamed live. On Twitter, follow @FMDChat or the #FMDaware hashtag. Updates also will be posted to FMD Chat's Facebook page.

Need some help getting connected? Check out the following resources!

WATCH THE LIVE BROADCAST HERE!

YouTube
What is YouTube?

Twitter Tutorials
How To Sign Up
How To Tweet, Reply, Follow, Etc
How to Engage

Facebook
What is Facebook?

When is it Where I am?
Time Zone Converter

Want to support FMD Chat even though you can't join us in person? That's great! You can be "There in Spirit" with a $15 donation.

Planning for Emergencies With FMD

noreply@blogger.com (FMD Chat) — Tue, 09 Jul 2013 02:43:00 +0000

FMD Chat's Patient Advisory Panel Member Fran Saplis is a fibromuscular dysplasia patient and registered nurse. Her experience gives her a unique perspective on preparing for medical emergencies. Below, Saplis shares some of her knowledge and tips from emergency medical service providers with the FMD Chat community:

For those of you who don’t know me, I am a planner. I LOVE to plan (and organize). I could go on “Let’s Make a Deal” and win every time, as I usually have everything but the kitchen sink with me “just in case." I also am extremely persistent and when faced with a task, latch on like a pitbull and don’t let go until I have exhausted every angle and turned over every stone. What I have learned with fibromuscular dysplasia is that it can be hard to plan for—perhaps my lesson here.

My husband and I are relocating back to Houston from the Chicago suburbs. We have never lived by family, my husband travels a great deal, domestically and internationally, and the cherubs are gone so I do much better knowing that I have a plan, as I am alone a large amount of time. I have spent a great deal of time researching doctors in the Houston area and am confident that I will be in good hands with my FMD diagnosis, after receiving recommendations from Dr. Jeffrey Olin (Mt. Sinai) and Dr. Ester Kim (Cleveland Clinic) in addition to my own research.

In choosing my medical team, I also want to make sure that my emergency responders provide me with direct access to my hospitals of choice. Recently, I spent three days with realtors narrowing down the geographic regions that feed into these hospitals. I didn’t stop there. I went knocking on the doors of the local fire departments and EMS providers for the area and even went to the hospitals to speak with the patient advocates. During this process I met some amazing people who helped me make a plan—one of whom is a paramedic who sat down with me to answer some questions and provide a few tips.

• Wear a medical alert bracelet or necklace — I do wear a medical alert bracelet. I cannot possibly list all the medical issues I have on it and have struggled with what I should capture on the front AND back of it! I do carry a typed piece of paper that is folded and in a plastic sleeve (passport folder case from Walgreens) that has the large red medical symbol on. This is carried in my wallet next to my license as well as posted on the kitchen cupboard.

But how will emergency responders know to look for this information? The EMS responder with whom I spoke said something along the lines of “see info/note in wallet” on a medical alert tag would be useful. They look for medical alert bracelets and necklaces first. They will look in wallet for ID, phone for ICE (in case of emergency) numbers, and will call the last three numbers you talked to on the assumption that one of those knows you personally. On this note in your wallet (mine is actually a full sheet of paper) you can put the additional information you need communicated: diagnosis, allergies, medications and dosages, hospital preferences, doctor contacts, etc. Make sure you update this regularly if meds change or you develop or resolve other medical issues. If you are unresponsive, this will be your “voice." Have your emergency contact person (spouse, parent, friend) also carry a copy of this information, so that if they are called by EMS they will have the same information. I know at my house, although my husband is “informed” on my medical needs, he doesn’t remember the details! This way, he has easy access to current information and can help communicate it to those who need to know.

Houston EMS also suggested “Vial of Life” (vialoflife.com). This is free. You can print forms and request house stickers to identify that you have a Vial of Life. This looks like something I will do.

I inquired about the medical alert flash drives. Are they of any use to the responders or just give false comfort to the patient? I was told they are “great," but that EMS responders don’t see them that often. Most ambulances have a laptop on board and as long as the flash drive does not require any special program to run, it can be helpful. If by chance EMS did not have access in the ambulance, the flash drive still would be helpful upon arrival to the hospital, as staff there could access the information. Some of the flash drives can accommodate test results, scans, medical reports, and other information in addition to basic emergency contact information. For a flash drive to be useful, it would need to be obvious that it is a medical alert device. EMS will still look for bracelets/necklaces first, then wallets—so a flash drive on a key chain in the bottom of your purse may not be readily found. It needs to be visible somehow—a medical alert bracelet could include information about where the flash drive is located.

Note: Shopping for medical alert jewelry through this link to Sticky J helps support FMD Chat.

• Get to know EMS and EMS to Know You — Another tip from Houston EMS was to come back in to the station once I moved so that responders can write into the Emergency Response System (911) who I am, my condition and special circumstances (ie: issue with intubation with carotid FMD). If 911 were called from my home number, these notes would come up, and any first responder would be made aware of the circumstances.

I asked if it made sense to go meet the local EMS guys who would service my house and explain, in person, my diagnosis and needs (and do some teaching), which I have done in Illinois. I was told that building such a relationship with my local EMS isn't a bad idea; however, one can not always rely on the local team to be the one dispatched. If a team is tied up with another call, another district will be dispatched.

EMS also said that knowing what kind of patients are in their area helps them keep up to date with equipment and technology. For example, my needing special intubation given my carotid FMD, helps provide EMS with a reason to get that equipment on their trucks, and knowing that my medical contact info is on a flash drive would help them justify that all vehicles had a way to connect to this information as more people may be using this technology.

• Know Where You Want To Go — I am an active person. I do not stay at home. I know there is no guarantee that if I need emergency care, I will be in an area that feeds to my hospital of choice. The EMS guys said: If you are stable, we will transport you to any hospital you want to go to. If you are not (stroke, dissection) we are taking you to the nearest hospital to stabilize you. If we know that your preference is to be in this other hospital system, we will get you there as soon as possible. Communicating hospital preferences can be done via medical alert devices such as the bracelets, paper print outs, and flash drives I have mentioned. Also in relation to being on the go, I wear a GPS beeper pendant and pay a monthly fee—think, “I’ve fallen and I can’t get up…but we know where you are.” This also gives me peace of mind, as it is part of the plan.

This may seem overkill to some. For me, having had a stroke and being alone, I need a plan. With the plan in place, I can relax and live my life and not let this disease keep me in bondage!

FMD Chat is celebrating National Orange Popsicle Week — you can too!

noreply@blogger.com (FMD Chat) — Fri, 17 May 2013 15:11:00 +0000

Join us for a week of raising awareness of stroke in young people.

Saturday, May 18
Like FMD Chat and NOPW on Facebook!

Sunday, May 19
Learn more about stroke from staff at University of Tennessee Medical Center's Comprehensive Stroke Center and join in recognizing National Orange Popsicle Week from noon to 7 p.m. May 19 at Pop Culture, a gourmet popsicle shop in Knoxville, Tenn. There will be free blood pressure screenings, and a portion of popsicle proceeds will go toward purchasing iPads to use in the Stroke Center's aphasia treatment programs.

Can't be there in person? Buy your orange popsicles virtually! All donations collected through FMD Chat during NOPW (May 18-25) will go toward the goal!

Monday, May 20
Share a stroke fact with someone you know. Fibromuscular dysplasia can be a cause of stroke.

Tuesday, May 21
Find out more about your own stroke risk with a self-assessment.

Wednesday, May 22
Read about the founder of NOPW who suffered a stroke at age 24.

Thursday, May 23
Share your orange popsicle photos on Facebook and Twitter! Be sure to mention National Orange Popsicle Week and FMD Chat when you tag your photos on Facebook, or tag @NOPW_ and @FMDChat on Twitter.

Friday, May 24
Read FMD patients' stories about their diagnosis.

Saturday, May 25
Share an orange popsicle with friends or family members and do something to reduce your stroke risk factors!

And don't forget!

FMD Chat Together 2013
Sept. 13-14
Asheville, N.C.

National Orange Popsicle Week Comes to Knoxville to Raise Stroke Awareness

noreply@blogger.com (FMD Chat) — Sun, 12 May 2013 04:06:00 +0000

Learn more about stroke from staff at University of Tennessee Medical Center and join in recognizing National Orange Popsicle Week from noon to 7 p.m. May 19 at Pop Culture, Knoxville’s gourmet popsicle shop.

“I love the simple and straightforward idea of taking something I love doing and being a part of—making popsicles—and using it as a basis for education,” said Jason Mitchell, Pop Culture’s owner. “It’s so much easier to learn and be receptive to awareness when you hare having fun.”

National Orange Popsicle Week (NOPW) began as a way for a young woman who suffered a major brain stem stroke at age 24 to raise awareness of stroke in young people. One in five strokes occurs in adults age 22 to 55. Stroke is the fourth leading cause of death in America and a leading cause of adult disability, according to the National Stroke Association.

UT Medical Center, which the American Heart Association has recognized for improving stroke care by promoting consistent adherence to the latest scientific treatment guidelines, will be providing free blood pressure screenings and stroke education during the popsicle-based awareness event.

A stroke occurs when there is an interruption in blood flow from the heart to the brain, causing brain cells to die. The May 19 popsicle event at Pop Culture will raise funds to purchase iPads for the UT Stroke Center’s use in aphasia treatment. Aphasia is a disorder caused by damage to the parts of the brain that control language. Aphasia can result in difficulties reading, writing and speaking.

“Stroke is a devastating disease: it happens like a tornado and the lives of the survivor and their families are never the same,” said Jennifer Henry, BSN, RN, CNRN, director of the UT Stroke Center. “Many people mistakenly believe that stroke only happens when people are older, when in fact, stroke can happen at any age. It's critically important that people take a look at their own risk factors and take steps to reduce risk. Everyone, even children, can learn to recognize the warning signs of stroke and the importance of calling 911 when stroke symptoms happen. NOPW shares this message in a unique way.”

Amy Wooddell’s first symptoms were dizziness and nausea, which didn’t neatly fit the acronym FAST, which is used to recognize and act on stroke symptoms—Face: does one side of the person’s face droop? Arms: if the person raises both arms, does one arm drift downward? Speech: does the person’s speech seem slurred or strange? Time: if any of these symptoms are observed, call 9-1-1 immediately.

Wooddell went to the emergency room only to be given medication for vertigo and sent home. The next morning she felt worse. The cause was a dissected vertebral artery, one of the major arteries leading to the brain. Doctors were unable to treat the dissection, and Wooddell later that night suffered a brain hemorrhage and lapsed into a coma. When she woke up days later, she was paralyzed and unable to speak.

Wooddell’s recovery was arduous, including 30 days in the intensive care unit. As she became more vocal, she finally was able to tell her new husband that she loved him—and that she wanted an orange popsicle.

However, Wooddell wasn’t allowed solid foods—even a popsicle—until she passed a swallowing capability test while in an inpatient rehab unit. The day she did was a victory, and her rehab caseworker bought an entire box of orange popsicles for Wooddell and her family. The orange popsicle was a much craved delight after nothing but water and liquid nutrition and became a symbol of recovery.

Fellow young stroke survivor, Sarah E. Kucharski learned about National Orange Popsicle Week through social media. The mission and the method resonated with her. Like Wooddell, Kucharski had a stroke at age 27 that was first diagnosed as vertigo, despite having a complicated vascular history. She spent a week in the hospital with extreme dizziness, double vision, and the inability to walk unaided. Nonetheless she was told that her symptoms would go away as quickly as they had developed and sent home with a walker.

It wasn’t until the first night out of the hospital that Kucharski’s discovered that she had no temperature or pain sensation on the right side of her body. She consulted with her primary care doctor who referred her to a neurologist who immediately said that, given her symptoms and Horner’s syndrome causing her left eye to droop, her case was “a text book” stroke scenario.

Kucharski’s recovery was self-driven, and it took another four years for her to finally receive the diagnosis of fibromuscular dysplasia (FMD), a rare vascular disease that can cause narrowing of the arteries, arterial dissection, aneurysm, and stroke. Kucharski has a rare version of the rare disease, which has no cure, and no real treatment other than management of symptoms and surgical repair of the effected arteries. She has used her own experiences as motivation to found an international nonprofit organization dedicated to those affected by fibromuscular dysplasia—FMD Chat.

While Kucharski and Wooddell share similar stroke stories—and a love of popsicles—they don’t share geography. Wooddell lives in Kansas, and Kucharski lives in Western North Carolina. NOPW may be rooted in Kansas, but strokes strike all around the world, so once Kucharski learned of NOPW, she wanted to get involved.

As managing editor of magazine dedicated to the Southern Appalachian region, Smoky Mountain Living, Kucharski got to know Knoxville through her work travels. She had read about Pop Culture and visited the mobile popsicle vendor’s bricks-and-mortar shop on Walnut Street last year. With the goal of bringing NOPW to the region, she reached out to Pop Culture’s owner.

“You should check out this event. If there’s anyone who could make it happen in Knoxville, it’s you,” she wrote to Mitchell on the Pop Culture Facebook page.

Mitchell’s response was enthusiastic. He immediately offered up the Pop Culture shop where he makes and sells his famous popsicles using ingredients from local vendors, milk without rBGH growth hormones, and sweeteners such as organic cane sugar, honey, or agave. He’s even put extra effort into making the color orange.

“It took me months to find something natural, and a company out of Louisville, Ky. formulated some orange coloring out of Beta-Carotene for me to use, and it's odorless and tasteless,” Mitchell said.

For NOPW, Mitchell will be serving up his Orange Cream and Mango popsicles, but he isn’t afraid to get creative.

“I may make something else that is orange, but I have to play around a bit with the ingredients and their respective colors to see if something else ‘Orange’ is possible,” Mitchell said. “The bright red of Strawberry Lemonade or the robust purple of Blueberry Vanilla would be immune to adding natural orange color.”

Pop Culture is located at 706 Walnut Street next to the Knox County Public Library, Connect via Facebook at facebook.com/popcultureknox. To learn more about National Orange Popsicle Week, visit nopw.org or facebook.com/nationalorangepopsicleweek.

Rare Disease Day - Rare Disorders Without Borders - Fibromuscular Dysplasia Around The World

noreply@blogger.com (FMD Chat) — Mon, 18 Feb 2013 04:37:00 +0000

Medical professionals are taught that when you hear hoof beats, think horses—not zebras. That is fine when you are a horse, but sometimes a hoof beat does belong to a zebra. I am a medical zebra twice over. In July 2004, I was diagnosed with Fibromuscular Dyplasia or, for short, FMD.

When I first looked up information on the internet on FMD; I found foot and mouth disease or things that stated that I did not have long to live. I felt very much alone.

There were moments of frustration because in a lot of cases I was the one who knew more about my disease then the medical professionals treating me. An example of this was being in the ER with a blood pressure of 230/120 with a severe headache. At the time, the last thing I wanted to do was to have to explain what was wrong with me.

There are times that I would want to hide and but I found that while my life has changed being a “zebra” has only made me stronger. For it is a matter of accepting change and realizing that it is ok for me to have moments to grief. While I have had to stop doing some things I love, I have been able to start new things.

In July of 2011, I was diagnosed with Pulmonary Arterial Hypertension thus making me a medical zebra one again.

Share your own story about how fibromuscular dysplasia has had an impact in your life. Whether you're a patient, a family member, a caregiver, or a healthcare provider, we want to hear from you!

Rare Disease Day - Rare Disorders Without Borders - Fibromuscular Dysplasia Around The World

noreply@blogger.com (FMD Chat) — Sun, 10 Feb 2013 19:23:00 +0000

In celebration of Rare Disease Day and the 2013 theme, Rare Disorders Without Borders, fibromuscular dysplasia patients and those affected by FMD around the world are sharing their stories about how FMD has impacted their lives.

"I am Deb B. I live in the foothills of Adelaide, South Australia. I have Fibromuscular Dysplasia. Up until my diagnosis and first treatment in 2007, I was really sick, unable to function basically. My once organised life was in shambles. The symptoms were many, and I was often hospitialized for my extremely high blood pressure. Medication wasn't working, my vision was poor, my headaches on going; I could barely walk at times and was dropping weight dramatically. I knew something was very wrong and so did every doctor who looked at me.

Adelaide, South Australia

Strangely all tests showed no cause for concerns. 2007 definitely was the year I became grateful for technology. Redoing scans I had had previously on more advanced equipment revealed the state of my vascular bed. It was a train wreck. The disease was taking its toll. I had kidney shrinkage with a blockage to my right renal artery at almost 100 percent. My left renal artery was at 58 percent. Arteries to other organs were compromised, including an aneurysm to the brain with other inter cranial artery weaknesses.

I have had several procedures to help blood flow and three stents for the aneurysm and surrounding weakened arteries. Thankfully my headaches disappeared, my vision improved, and my blood pressure dropped, but I'm not out of the woods. I have good days and bad days—thankfully more good than bad. It has been challenging allowing medical professionals to take care of me knowing that FMD was not familiar or even heard of among them. I do have fantastic doctors with a good understanding now, but it took many years to find them.

No awareness was the problem with FMD diagnosis, and only by a chance chain of events did I get one. My hope is that for future patients a diagnosis will be quick—before damage or death occur. I have several special strings of beads."

FMD Chat Prepares for Rare Disease Day, Feb. 28

noreply@blogger.com (FMD Chat) — Thu, 03 Jan 2013 20:36:00 +0000

In celebration of Rare Disease Day and the 2013 theme, Rare Disorders Without Borders, fibromuscular dysplasia patients and those affected by FMD around the world are asked to email pictures of themselves and a brief story about how FMD has impacted their lives to FMD Chat.

Pictures and stories will be shared on FMD Chat's website and Facebook page in the weeks leading up to Rare Disease Day, and FMD Chat will showcase the disease's impact across the globe.

To participate, email FMD Chat at fmdchat@gmail.com with a picture of yourself and a story about how FMD has played a role in your life—as a patient diagnosed with the disease, as the family member or friend of a patient, or as a caregiver to FMD patients. Be sure to include your first name and the initial of your last name, as well as information about where you live (town and country).

The deadline to submit photos and stories is Feb. 20, 2013. Be sure to tell other patients and healthcare providers about the opportunity to spread awareness of FMD and Rare Disease Day!

Need resources to learn about Rare Disease Day and help spread the word? Check out the following links. EURORDIS and National Alliances for rare diseases are inviting all patient organisations, caregivers, researchers, public authorities and companies developing orphan products to join in this observance. The purpose is to focus attention on rare diseases, the challenges encountered by those affected, and the inequalities that rare disease patients face every day.

Rare Disease Day General Information Flyer

Rare Disease Day Info Pack

Connect with Rare Disease Day on Facebook

Connect with Rare Disease Day on Twitter

Happy Holidays from FMD Chat!

noreply@blogger.com (FMD Chat) — Mon, 03 Dec 2012 20:16:00 +0000

Looking for a fun way to support FMD Chat this holiday season? Check out FMD Chat's line of product at CafePress featuring our Happy Holidays artwork designed exclusively for FMD Chat!

Whether it s a mug for hot cocoa or a serving tray for holiday canapes, a festive hoodie or a set of holiday cards to reach out to family, FMD Chat has made it available to you. Twenty percent of each purchase supports the organization.

We're wishing you a very happy holidays and thank you for being a part of FMD Chat!

Genetics, FMD & The Need for Education by WVPeaches

noreply@blogger.com (FMD Chat) — Mon, 22 Oct 2012 16:55:00 +0000

Anecdotal evidence and emerging research seems to indicate a genetic predisposition towards fibromuscular dysplasia (FMD), connective tissue diseases and other syndromes, evidence of which I have seen in my own family.

I have two older sisters and we share some very real disorders that doctors have found interesting in the past. The three of us have irritable bowel syndrome, depression, migraine, high blood pressure (from a young age) and osteo-arthritis to varying degrees. Upon researching our family, we have discovered that our maternal grandmother also had irritable bowel syndrome, high blood pressure and osteo-arthritis and suffered greatly during her 86 years. Our paternal great-grandmother experienced severe depression and migraine headaches throughout her lifetime. I am the only one that has been diagnosed with fibromuscular dysplasia but encourage my sisters to have their doctors keep an eye on any symptoms that might suggest this as well. My mother had severe kidney failure but was not diagnosed with renal FMD, and at the time, we did not know to question that with her physicians.

Other ailments that are common to our family are diabetes and Parkinson’s, stroke and heart diseases. My mother and both maternal and paternal grandmothers as well as my middle sister have or had diabetes (non-insulin dependent). Many of our cousins on my maternal grandfather’s side have Parkinson’s disease. This last has been more prevalent in the males but not exclusively. My own father died at a very young age from Myasthenia gravis, but it was not thought to be genetically inherited.

During discussions in FMD Chat's Facebook group, I have noted that other patients seem to also have many of the same related connective tissue, digestive or other organ disorders. To me it seems that patients are sharing a similarity of symptoms not currently associated with FMD, and that this might suggest a connection, however tenuous, between FMD and “nerve-related” illness. FMD patients are heartened by recent research into FMD and genetic predisposition, although there are no proven connections at this time. There are still so many unknowns with this dangerous disease that patients are understandably frustrated.

The single most discussed issue in our FMD Chat patient group is the failure of the health community to have any knowledge of FMD. This alone causes more distress amongst patients than likely any other aspect of the disorder. Patient frequently are called upon to provide health care providers with information regarding FMD including the need for and types of testing and treatment. We find this especially in (but not limited to) smaller, more rural communities. It is frustrating and exhausting for the already stressed patient to have to advocate for his or her own health treatment due to lack of education in the health care field. We carry folders of test results and research to each physician we see. It feels impossible for the layperson to convince otherwise the professional of the gravity of this illness. We are heartened by the proponents and advocates amongst us who tirelessly gather and distribute new research to both patients and doctor—but we need more! More research, more education, more funding, more understanding along with better access to excellent healthcare for our disease is urgently required.

Support FMD Chat by Shopping for the Cause

noreply@blogger.com (FMD Chat) — Wed, 19 Sep 2012 05:22:00 +0000

Since being founded in 1999, OneCause has provided simple ways to turn thousands of consumers' everyday purchases into much-needed contributions. OneCause promises socially-conscious consumers that they can support their chosen cause through simple shopping—and now your shopping can support FMD Chat.

By signing up with OneCause and selecting FMD Chat as the cause you support, up to 20 percent of every eligible purchase will go to FMD Chat. With a OneCause Visa, FMD Chat will earn a 1 percent contribution on total spending, a $20 bonus contribution the card holder's first purchase and up to a 9 percent contribution via stores and catalogs of Visa Rewards Merchants such as Pottery Barn, Marriott, Hard Rock Cafe and Eddie Bauer.

In addition, one can contribute to FMD Chat by shopping at select neighborhood stores and service providers, such as local dry cleaners, pizza shops, and hair and nail salons by using credit and debit cards registered with OneCause.

To learn more and sign up for OneCause, visit onecause.com. Click "Join" at the upper right of the page; fill in the required information and then choose FMD Chat as the cause you support. OneCause offers a handy toolbar to help you maximize your contributions.

FMD Chat is an international, nonprofit organization dedicated to supporting those affected by fibromuscular dysplasia including patients, family members, caregivers, and healthcare professionals. Fibromuscular dysplasia (FMD) is a rare, noninflammatory, nonatherosclerotic arterial disease. It may present at any age, but is more commonly discovered when the patient is between the ages of 20 and 60 years old. Patients may be asymptomatic and remain undiagnosed; however, the disease may cause arterial stenosis, occlusion, aneurysm, and/or dissection. FMD most commonly impacts the renal and carotid arteries, though it has been identified in almost every arterial bed. FMD is considered a rare disease. In the U.S., a disease is defined as rare if it is believed to affect fewer than 200,000 Americans, according to the National Organization of Rare Disorders. A disease or disorder is defined as rare in Europe when it affects less than 1 in 2,000. The disease, like the majority of rare diseases, has no cure.

To connect with FMD Chat, visit fmdchat.org, facebook.com/fmdchat, or twitter.com/fmdchat.

FMD & Me - Understanding the Effects of the Disease by AfternoonNapper

noreply@blogger.com (FMD Chat) — Mon, 20 Aug 2012 05:15:00 +0000

Sometimes it's hard to understand just what it means to be a patient. It's even harder to understand what it means to be a patient with a rare disease. So - I'm going to show you.

To put it very bluntly, fibromuscular dysplasia has tried to kill me many times before. I'm doing my best not to let it. FMD Chat is raising funds via MedStartr, so that the organization can grow to support more fibromuscular dysplasia patients like me around the world.

FMD has no cure, but at the very least we can care. We have 19 more days to raise $1,274 dollars, so for 19 days - or until we reach our goal - I'm going to show you what it's been like, and what it continues to be like, to be me, a patient with FMD.

WARNING: it's going to get graphic.

DON'T WANT TO SEE IT: help FMD Chat reach its goal before I get to the emergency surgery pics.

Day 1 - This is my right kidney.
It is the only kidney I have.

My other kidney was removed when I was 29,
after my renal bypass failed.

Follow along at afternoonnapper.com.

My Silent Fear—The Big "D" by MonkeyMugs

noreply@blogger.com (FMD Chat) — Mon, 13 Aug 2012 15:11:00 +0000

Beginning in her mid 50’s, at the same age I am now, my mother started suffering TIA’s. Like me, she also had atherosclerotic plaque in both carotids for which she had stents in her late 50’s. Fortunately, she never suffered a full blown stroke.

Despite the stents, her TIA’s continued and she seemed to become more and more confused as she aged into her 60’s. It was difficult to watch my extremely beautiful and fiercely independent mother become somewhat “dingy”. Being less knowledgeable than I am now, and thinking 60 was OLD, I wrote it off as aging. I realize now it is very possible that my mother also had FMD.

She complained of all the things I now complain of …. the TIA’s; the spinal issues; the strange neurological sensations; headaches; numbness and tingling; disorientation at times; ringing and whooshing in the ears; and forgetfulness. I thought, as some of my doctors have told me, that these things were “all in her head” …

Well, yes … I suppose that these symptoms ARE all in our heads, especially for those of us with carotid or vertebral FMD.

The years rolled by, and in her late 60’s, my mother grew progressively worse. She started suffering frequently from TIA’s and the resulting “flight of ideas” and fumbling for simple, common words. She was eventually demoted from an executive secretarial position to answering the phones or filing … because she could no longer function well in her position.

My mother … the fighter … the lady who survived the Great Depression; the lady who lived out her dreams to be more than her circumstances that arose from growing up in poverty in rural Mississippi … to become educated and to live around and travel the globe as she often dreamed as a child. My mother … now in her late 60’s … diagnosed with …. severe Dementia … yes, that’s with a capital “D”.

Our genetic pattern is so identical. This is very apparent as evidenced by our paralleling health issues. We even look a great deal alike, even though my frame is much larger. When I attend family reunions, the older folk gaze long and hard at me and I see a glimmer of light in their eyes that quickly turns from joy to sadness. I know they see my mother. I see her myself when I look in the mirror … and it frightens the hell out of me.

The four years following her diagnosis of dementia at age 68 were absolutely heart wrenching as I watched her shuffle her feet and walk mindlessly about, unable to utter words. For these years, I literally crawled inside her skin, trying to imagine what she was going through, so that I could communicate on her behalf to her doctors and caregivers. Eventually, I was forced to place her in an Alzheimer’s and Dementia Unit (A&D Unit). Thankfully, it was a wonderful facility: the staff was nothing short of angel beings. However, all decisions rested on me for her health and well being during this time, as the balance of her family had predeceased her and my brothers were utterly selfish and useless.

Although most of those years were silent, there were brief moments of clarity for which I was thankful, even though the message was not what I wanted to hear. These were times when she had something very important to say and which came from deep within that place of strong will that still remained. Yes, she found a way to speak the words, even though she could no longer utter a single word. The first message was the statement: “I feel as if I am going crazy.” Later in time, when she started refusing food, I attempted to entice her by saying, “Oh, you like this … here, eat this”, and exasperated, pleaded, “Mother, what DO you want?” She looked at me clearly, with determined eyes of stone, and answered, “I want to die.” I told her that I understood and I would see that her wish was respected. She died six months later the day before Christmas Eve, 2006, at the age of 73.

When I gaze in the mirror, her ghost haunts me. I know without a doubt she had FMD in the same upper part of the carotids as I do as well as the same location of atherosclerotic plaque – a double whammy for our brains. Conscious of this, I do what I can in the form of lifestyle and healthy choices.

Will my mother’s fate be my own? I do not know. For my loved ones’ sake, I pray not. Many days, I quarantine the thought of this and absolutely forbid myself to go down that trail of “what if’s”. But yes, indeed, it is always there, tucked not so neatly beneath the surface: my silent fear that I dare not share with my family or friends - at least not for now.

Call to Action: FMD Chat Needs You by AfternoonNapper

noreply@blogger.com (FMD Chat) — Thu, 02 Aug 2012 16:48:00 +0000

FMD Chat needs your support in our push for $5,000 in funding via MedStartr. Why should you care? Because frankly not many people do. Rare diseases like fibromuscular dysplasia don't have the support of the masses. We don't have celebrity spokespeople. We have one another and people like you —friends, family, complete strangers — on whom we rely to champion our cause.

I know that there are always a zillion causes in need and angling for your support. And there are always startup investment opportunities that promise a return. FMD Chat is one cause, and it won't double your money. But giving will make a difference. And don't think that just because you can't give a lot that you don't make a difference. One person's $10 may be a significant as another person's $100 dollars—we all have different incomes, different bills to pay, different realities.

FMD Chat needs support to achieve official nonprofit status which will include formal IRS filing and joining the N.C. Center for Nonprofits to ensure proper nonprofit management. Funding also immediately will go toward the first annual FMD Chat Together social and educational retreat for patients and their immediate family members to be held on Sept. 8, 2012 and set the groundwork for the second annual retreat in 2013. Future FMD Chat projects include awarding grants to rare disease research; leverage of funds through interest-based savings investment, pursuit of grants and fundraising; the development of a more sophisticated FMD Chat website including additional resources for patients, caregivers and healthcare providers; printing and distribution of FMD Chat’s educational “What is FMD?” posters to healthcare providers; development of additional educational resources for patients, caregivers and healthcare providers including video and print materials; translation of resources into foreign languages to increase awareness and outreach effectiveness through FMD Chat’s own website and strategic partnership with RareConnect, a joint effort of EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders) to provide a safe space where individuals and families affected by rare diseases can connect with each other, share vital experiences and find helpful information and resources.

Please. Consider supporting FMD Chat and sharing this message with everyone you know. We've got $2,620 left to go and only 36 days in which to do it.

FMD Chat Connects With RareConnect

noreply@blogger.com (FMD Chat) — Thu, 02 Aug 2012 01:36:00 +0000

Those affected by fibromuscular dysplasia around the world now have a new option through which to interact with one another as the result of a partnerhship between FMD Chat and RareConnect. RareConnect was created by EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders) to provide a safe space where individuals and families affected by rare diseases can connect with each other, share vital experiences, and find helpful information and resources.

"We are thrilled to announce the launch of our 28th online community—Fibromuscular Dysplasia," said Alexandra Freitas, NORD's RareConnect Online Communities Coordinator. "It has been such a pleasure working with FMD Chat. This community would not have been possible without their dedication to this initiative."

FMD Chat's RareConnect community has several benefits. First and foremost, the community affords users the opportunity to engage in the worldwide exchange of information about FMD. Fibromuscular dysplasia crosses geographic and cultural boundaries both for patients and the medical professionals who are studying the disease. International connection can do nothing but help raise awareness of this rare disease and help patients around the world feel less alone in their diagnosis. RareConnect has the tremendous benefit of offering translation services to facilitate this exchange of information. RareConnect supports German, English, Spanish, French, and Italian. RareConnect's community platform also provides users with additional privacy options. While real names are attached to most Facebook profiles—FMD Chat's previous social media platform of choice—RareConnect allows users to create a profile with a username, as well as choose privacy settings for each posting.

The RareConnect platform is set up with three sections—meet, understand, and learn. The “Understand” section of RareConnect promotes awareness and understanding through daily life experiences. The “Meet” section of RareConnect provides a safe place to meet friends, ask questions, start or join conversations, and interact with others experiencing the same challenges. The “Learn” section of RareConnect links to FAQs, published articles, upcoming events, and other documents providing the latest information for each disease-specific community.

To join the new FMD Chat community, register with RareConnect, set up a profile, and then chose "fibromuscular dysplasia" from the community menu. FMD Chat also can be found on Facebook, Twitter, and at fmdchat.org.

Facing FMD with Friends by WVPeaches

noreply@blogger.com (FMD Chat) — Mon, 30 Jul 2012 17:02:00 +0000

each day when I awake

I give thanks for each breath I take

this disease helps me appreciate

great and small blessings I anticipate

Fibromuscular dysplasia can be a frightening disease. When I first was diagnosed in the winter of 2009, I had never heard of it nor had my family, friends and most doctors. I was fortunate to have an excellent group of specialists to diagnose and provide information about carotid FMD. My sister flew in from Maryland and together with my then-husband, stayed with me throughout the angiogram procedure. We laughed, cried and held hands—not even knowing enough to be very frightened about the diagnosis.

Today I am much more informed, thanks in great part to the FMD Chat group that I found. Patients share everything about their personal FMD experiences as well as personal fears, achievements and family issues. We have discovered that we share a lot of similar symptoms and seemingly associated conditions such as: tinnitus, whooshing, severe neck pain, migraine, high blood pressure, fibromyalgia, deteriative disc disease, odd vibrating sensations (typically in upper thigh, buttocks etc.) and so forth. These are all denied by the medical practitioners as being related, but so many of us suffer from these that we know there is some correlation with the FMD.

Having a place to go to share our experiences, is like a haven for each of us. The FMD Chat site provides a safe, friendly, supportive atmosphere for fellow FMD patients to exchange information and fears. July 23 marked FMD Awareness Day, and I hope that some of our families, friends and medical providers took the time to learn more about this fairly rare disease that we have developed. My advice to each of you is to advocate, advocate, advocate and… have a peaceful day.