I was hired in June of 2011 to manage RareConnect- NORD’s global, online communities project with EURORDIS. About eight months into my position I was asked to assist a colleague with a paroxysmal nocturnal hemoglobinuria (PNH) meeting in San Antonio.

I had the pleasure of spending the weekend with a group of PNH patients and their caregivers. It was incredible to witness the abundance of support exchanged. Patients diagnosed with this incredibly rare disease were no longer geographically segmented- they were face to face with someone just like them. The burden of being so isolated seemed lifted as patients discussed their journey to diagnosis, infusions, favorite physicians, and psycho-social issues that stem from having the disease. For many of the patients, for the first time in their lives they could connect with another PNH patient. I saw firsthand the benefit of face-to-face networking for the rare disease patient.

With that said, I was thrilled to learn in early 2013 that Alexion Pharmaceuticals would provide a second educational grant to NORD to run similar meetings for atypical hemolytic uremic syndrome patients and caregivers. Since I was already familiar with the aHUS community (we have a RareConnect community for aHUS and I work closely with the Foundation) I was elected program manager. I was thrilled.

We had our first regional aHUS patient meeting in Atlanta in late February and our second meeting in New Jersey just this past April.

These regional patient meetings are two days events. The pre-meeting reception, which is held on Friday evening, is an important part of the event.  It gives the attendees an opportunity to get to know one another before they are in the “more formal” meeting with the physician expert.

Saturday starts early, with breakfast and then a two hour presentation from a physician expert. The presentation by the physician expert is the central point of the meeting, and the interactive dialogue/Q&A has been proven to be very valuable to attendees. The Foundation for Children with aHUS follows after lunch with a short presentation on available resources for patients and caregivers.

To support different groups, we designed patient meetings to include breakouts for the patient and caregiver groups separately, so they can discuss their respective issues in a confidential setting.  These breakouts are always facilitated by healthcare professionals (social workers or clinical psychologists) with experience in health/rare disease psychology and/or counseling. These breakouts provide a private setting to share common concerns, fears and challenges and to learn from one another.  There is also time to discuss some of the psycho-social issues that have been identified, such as sense of isolation  challenges of being an adult or a caregiver of an aHUS patient, chronic disease management, coping strategies, etc. The facilitator is there to help them develop coping skills and assist in dealing with the challenges of their disease.

Through these two meetings in 2013 for aHUS we have helped connect over 20 families! Each meeting provides a highly-interactive setting for patients to learn and to be better prepared to deal with the challenges of their disease. But most importantly they leave as a member of a supportive community.

As a rare disease patient, have you ever met someone else with your disease? What was the experience like for you?

Over the last 3 years our team has worked hard to expand the RareConnect project and we are thrilled to announce we now have over 40 active global, disease specific communities with the launch of the undiagnosed brain diseases community! Since its inception in 2009, RareConnect has provided 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.

Check out some recent case studies I’ve put together to illustrate the value of these global, rare disease communities:

This was posted by a patient with cryopyrin-associated periodic syndromes patient on the RareConnect forum: “Wow! Your story almost sounds exactly like mine! I had some of the same issues when I was little and everyone looked at me like I was crazy! I finally got so furious being misdiagnosed numerous times that I did my own research and found the NOMID Alliance page. When I saw the rash picture I screamed out loud “I think I figured it out!!” Well, 2 months later, here I am! I got my first injection of Ilaris today. I was also in tears when I found people that understood what I felt! Because of RareConnect, I was able to get a diagnosis, and help others in my family that have dealt with CAPS issues for generations!”

Three patients with hereditary spastic paraplegia connected via RareConnect in September of 2012. Little did they know they were all located in a small part of Northern Ireland. Due to their close geographic proximity, they were able to discuss local physicians and treatment sites. Without RareConnect, they never would have been able to find each other.

In May of 2012, a member of our Waldenstrom macroglobulinemia community shared his testimonial on RareConnect. A 59-year old firefighter from NY found out about having this disease a year after being a first responder at the World Trade Center following 9/11. Within weeks, we had three other members comment on his story. They were all exposed to contaminates at Ground Zero and now all have been diagnosed with Waldenstrom macroglobulinemia. This correlation with environmental factors and this rare cancer would have never been acknowledged without our platform. We sent this information on to researchers in the United Kingdom.

RareConnect continues to provide a safe, global forum for patients and families to connect. We are committed to promoting awareness and understanding through daily life experiences, fostering global conversation, and providing the latest information for each disease-specific community.

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. To find out more on our community launch process, check out our Prezi! Or if you are part of an established patient organization and interested in launching a global community, please contact me directly at afreitas@rarediseases.org.

How do you use online communities?

Siobhan has been singing since she was a little girl and performed locally through her childhood and teenage years. Siobhan was thrust into the national spotlight in 2009 when she became a finalist on American Idol.  Siobhan loves to perform, but she says she really enjoys the shows that have special meaning, such as the NORD gala next week.

Siobhan was first introduced to the rare disease community through her boyfriend’s connection with the Latham Center in Massachusetts that has a special program for Prader-Willi Syndrome patients. Siobhan watched as these patients deeply touched the life of her boyfriend and was thrilled to be able to do something that would help bring awareness to the community and to provide a special performance for patients in attendance at the event.

Siobhan is also incredibly passionate about another issue that many in the rare disease community have had to face, bullying. Specifically, Siobhan supports a program called “Challenge Day” which targets middle and high school students with the goal of having “all children feel safe, loved and celebrated”.

In a recent phone call, NORD staff members were struck by Siobhan’s excitement about performing at NORD’s 30^th Anniversary Gala Celebration and her genuine support for the rare disease community.

The commitment that these scientists have for their research – and even more specifically — for the welfare of the affected patients, often goes unnoticed in the public eye.

I was recently reminded of this during a phone call that I received last week.

A researcher called, inquiring about one of our current RFPs. The particular rare disease is the entire focus of his research.  His only significant funding comes directly to him from parents of affected children. And because it is such a rare condition, the funding is also… rare.

He was thrilled to learn about NORD’s grant for this disorder! His passion about the genetic work that he’s been undertaking for this condition came through so very clearly, yet in a most open, gentle and humble way.

This particular rare disease is not well-known, has been minimally researched — and often has a dire outcome. But no negativity or sense of frustration came through during our discussion. There was simply joy on his part – some funding for his research could be available to him!

After speaking with this MD/PhD, a faculty-member from a well-known medical research institution in the US, as we were about to end the phone call — something compelled me to ask him, “How did you become so dedicated to this particular disorder?”

His answer –

“It’s a terrible condition. Someone has to care about it!”

That fierce loyalty and sense of mission that simply cannot be driven down — despite so many roadblocks — is really something to behold.

Coincidentally, the following day an online article appeared in The Scientist Magazine, which practically echoed the previous day’s phone call.  This “Bench to Bedside” article is about a Canadian medical team whose research, begun 18 years ago, has now directly led to the recent approval of the first orphan drug for a rare condition called “short bowel syndrome.”

Dr. Daniel Drucker, one of the senior investigators at Mount Sinai’s Samuel Lunenfeld Research Institute in Toronto, Canada, stated the following, “The feeling that our work was fundamental to

the development of a drug that will help thousands, however rare this patient population, is pretty special.”

On a related but separate note, NORD learned yesterday of the unexpected passing of the beloved Chair of our Medical Advisory Committee, Sami Said, MD. Our hearts are very heavy at NORD right now.

Dr. Said (known to us at NORD as “Sami”) served as Chair of NORD’s MAC for the past 13 years, with a commitment to the entire rare disease community that never wavered.

In 2006, Dr. Said received the exceptional title of “Distinguished Professor of the State University of New York,” in addition to many other honors and accolades. He was an expert on pulmonary arterial hypertension, pursuing a line of study for this devastating disease for more than 40 years. We believe that he would have continued his research for another 40 years – had he been given the chance. Dr. Said was a humble, gentle, brilliant, funny — and above all else –remarkably wise researcher and humanitarian.

Dr. Said was part of our NORD family, and we deeply, tearfully mourn his passing.

RIP, Dr. Sami Said.

It’s comforting to remember that there is a huge group of behind-the-scenes scientists — men and women — relentless in their dedication to rare disease research. Eight years of administering NORD’s research grant program has taught this to me. We applaud these researchers as they forge ahead, without fanfare.

They really do care!

Figurative notions of internal borders are not a primary concern of scientists and clinicians. Writers, artists, filmmakers, and others from the Humanities are better on these and other matters related to illness effects on our inner world geography. Indeed, many of them have addressed this idea from their own experiences.

The novelist Virginia Woolf, who had a long and eventually fatal mental illness, knew her condition placed her in another location. From the vantage point of the figurative location she inhabited when ill, it seemed to her that “the world has changed its shape…the whole landscape of life lies remote and fair, like the shore seen from a ship far out at sea.” She saw that even this figurative border had a literal effect in that illness can cause people to “cease to be soldiers in the army of the upright; [they] become deserters.”[1]

The writer and filmmaker Susan Sontag went further to describe how people can travel back and forth across these borders based on their state of health (or illness). “Illness is the night-side of life, a more onerous citizenship. Everyone who is born holds dual citizenship in the kingdom of the well and in the kingdom of the sick. Although we all prefer to use only the good passport, sooner or later each of us is obliged, at least for a spell, to identify ourselves as citizens of that other place.”[2]

Lest we are made to think that these figurative places where people can find themselves with their illnesses are always made out to be unwanted or to be avoided, the literary critic Anatole Broyard purposely journeyed to them during his illness from terminal prostate cancer. He wanted to be taken elsewhere in his mind at times, or as he put it, “I have to take my imagery along with my medicine.”[3] His elsewhere was just over the border of consciousness: “I’ve had eight-inch needles thrust into my belly, where I could feel them tickle my metaphysics.”

What all this means is that people with chronic illnesses can seem to be with us within our own geographic borders, but not necessarily with us within the same borders of our internal worlds. They may be in another world or seem worlds away, and as a result they may be hesitant to engage in healthcare-related activities or ordinary activities of daily living. Therefore, health care professionals, family members, and others in the intimate spheres of people with chronic illnesses might consider crossing the borders and inhabiting their figurative worlds to make connections and to get their perspectives—or, to just keep them company in a place they’d rather be for awhile.

But just how might we get the perspectives of those inhabiting other worlds, and what might we expect these perspectives to be? How exactly could we keep people company in these other worlds when inhabiting them for a time could be to their benefit? The number of scenarios possible is vast with so many chronic illnesses manifesting themselves in so many ways and occurring in so many situations. I thus ask you, Dear Readers, to give us your thoughts on these questions.

I originally started writing this blog days before Boston Marathon 2013, and was planning to post it after returning home.  I’m glad that I hadn’t posted it beforehand, because the terrible events at the finish line have magnified my admiration all the more for a particular group of heroes – two groups of individuals who formed one amazing team.

The Genzyme Running Team, one half of the Hero-Group, has now run the Boston Marathon for the past six years. Between each runner’s personal appeals for donations and Genzyme’s matching gifts program, they have raised over $200,000. These funds go to NORD to help people with rare disorders through programs of advocacy and research. The rare disease community is the inspiration for the runners.

The majority of the Genzyme runners live in the Boston area, with much of their marathon training taking place before daybreak, during below-freezing, dark and snowy Boston winters. Each runner is paired with a “patient-partner.” When the training gets really tough, the runners envision the patient-partner in whose honor they are running – providing enough inspiration to fuel an army of runners.

In many of their blogs leading up to this year’s Marathon, the Genzyme runners have described their arduous training as a metaphor for the uphill battle many with rare disorders face on a daily basis.

In fact, two members of the Genzyme running team each has a serious rare disorder.

The rare disease patient-partners – those individuals and their family members who joyously participate on the sidelines – comprise the other half of the Hero-Group.  Most were able to go to the Marathon this year – traveling to Boston from different areas across the country — to cheer on their running-partners and the entire team. They and their families willingly and publicly told their stories and shared their experiences, all for the sake of the entire rare disease community.

Enduring bonds are forged between these patients, families, and runners – bonds that will last forever.

I know several of the patient-partners and their families who participated this year, and I was aware that some are currently facing dreadful issues. One set of parents is beset with fear due to their child’s recent complication from her rare condition.  Another parent lost a beloved little boy just months ago. One adult patient with a painful metabolic disorder has undergone numerous surgical procedures… and has more surgery scheduled. I could go on and on about the challenges that many in this half of the Hero-Group are up against right now.

Despite severe trials and tribulations, the patient-partners came to Boston to support their runner-partners. Like scattered atoms that miraculously bind in nature, these two groups formed into one perfect team!

I was so fortunate to have attended Genzyme’s pre-marathon celebration dinner on Saturday night, and to have finally met people with whom I’ve been in contact for the past several months, having helped to coordinate patients with running partners. This effort took hours and days to finalize – but it never felt like work for me.  (There is a saying that when you love what you do for a living, you never work a day in your life!)

On Monday, the day of the Marathon, there aren’t words to accurately describe the joy and the air of celebration.  We were at Mile 14, where Genzyme had a viewing section for us. We cheered on not only Genzyme’s runners, but also so many other terrific teams – good people from around the world –  the scattered atoms aligning perfectly, running for a cause greater than themselves.

That atrocious act of murder and terror brought Boston Marathon 2013 to a sudden and screeching halt. While there are still many unknowns regarding the two perpetrators, we are certain about a few crucial facts. They did not understand the meaning of bravery, they did not know the definition of courage, and perhaps above all else – they underestimated the pluck and fortitude of those who surrounded them.

NORD sincerely and deeply thanks the Genzyme runners and their patient-partners for their efforts to help all who struggle with rare disorders. They are a very special team of heroes…perfectly aligned.

Most human diseases are caused by production of abnormal proteins or malfunctioning proteins.   Antisense therapy involves inhibiting production of these proteins.  When a gene is known to cause a specific disease and the genetic sequence of that gene is known, it is theoretically possible to synthesize a complementary molecule that will bind to that gene and inactivate it.  If you prevent the abnormal protein from being made, you prevent its damaging effects on cells, and therefore reduce or delay symptoms.

Where does the name “antisense” come from?

The first step in the production of a protein is the unwinding of the DNA double helix and the production of a single stranded messenger RNA (mRNA) molecule.  The sequence of nucleotides (building blocks) in the mRNA molecule is called the “sense” sequence.  The “antisense” molecule is the complementary RNA strand that targets the mRNA molecule and is designed to essentially “shoot the messenger” so the protein won’t be made.  Another name for this therapy is antisense oligonucleotide (ASO) therapy and it is sometimes also referred to as a type of gene silencing.

Are any antisense therapies commercially available?

In January, the FDA approved the antisense product Kynamro (mipomersen) to treat homozygous familial hypercholesterolemia.  Vitravene (formivirsen) was approved in 1998 to treat cytomegalovirus (CMV) retinitis in AIDS patients.

What’s new with antisense therapy?

Last month, the first human trial using antisense therapy for a neurodegenerative disease was reported in the Lancet Neurology.  This was a phase 1 placebo controlled trial for a genetic form of amyotrophic lateral sclerosis (ALS or Lou Gehrig’s disease) and participants had a mutation in the superoxide dismutase (SOD1) gene.  SOD1 gene mutations are associated with approximately 20% of familial ALS and about 2% of all ALS.  Injection of antisense molecules into the spinal cord targeted to the mRNA for the SOD1 protein was found to be safe.  More research will be needed to determine if this therapy can benefit ALS patients with this gene mutation.

Is research underway to look at antisense therapy for other rare disorders?

Yes, ASO’s for Huntington disease,  spinal muscular atrophy, Duchenne muscular dystrophy, myotonic dystrophy, and others are in development.

What are the challenges in development of antisense therapy?

Antisense technology was first developed 35 years ago, but it has been extremely difficult to translate the technology into useful clinical applications.  ASOs need to be chemically modified so they won’t be rapidly broken down by enzymes and will accurately bind to their intended targets.  Another challenge is delivering the product where it is needed in order to provide a beneficial effect.  Additionally, antisense products could build up in certain organs such as the liver and lead to toxic side-effects.  The rare disease community is cautiously optimistic that significant progress is being made to overcome these obstacles and provide new therapeutic options for patients.  NORD will be following advancements in the development of antisense therapies and providing updates when appropriate.

When rare disorders crossed into commercial research and development, however, other borders remained, and new borders were revealed. Like the Haitian proverb that says, “beyond mountains, there are more mountains,” in rare disorders, beyond borders, there are more borders.* And like the Haitian proverb, we must see this statement as both realistic and hopeful. Mountains act as obstacles to overcome as well as opportunities to capture; rare disorder communities can approach borders in the same way. In forthcoming blog posts I intend to explore borders important to rare disorder constituencies and how these borders outline the challenges and opportunities facing people affected by rare disorders.

One border I intend to focus on runs within individual families. Most people imagine and plan their future lives based on family histories and hopes; they anticipate trajectories that seldom accommodate a rare disorder. Confronting any of these disorders alters expectations and can create borders—setting parents and children apart, dividing siblings, and fragmenting personal relationships for example. Another set of borders cuts across society. These can be the borders built of institutional arrangements like distribution and payment systems for rare disorder treatments as well as social policies like the current health care reforms. Other societal borders are erected by cultural views, such as common disease and illness conceptions, which in turn follow traditions and trends, public debates, and even language structures.

Borders that function as barriers to diagnosis, treatment, and support are frightening prospects to people affected by rare disorders. Borders that can be seen, however, are the borders that can be addressed. Borders that are not seen are the more worrisome. Therefore, I invite readers to comment on the borders I will be considering and to identify others that need revealing. Rare disorder groups started the conversation about geographic borders, and our conversation can continue traversing borders beyond borders.

*From, Kidder T. Mountains Beyond Mountains: The Quest of Dr. Paul Farmer, A Man Who Would Cure the World. New York; Random House: 2009.

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J. Russell Teagarden recently joined NORD as the Senior Vice President, Medical & Scientific Affairs.

Image Credit: Reuters/Jason Reed

I represented NORD at the White House this morning at an event where President Obama announced the launch of a “Brain Initiative” to help researchers find new ways to treat and cure brain disorders.  The initiative includes:

• key investments to jump-start the effort:  The NIH, Defense Advanced Research Projects Agency and National Science Foundation will support approximately $100 million in research beginning in FY 2014;
• strong academic leadership:  NIH will establish a high-level working group co-chaired by Dr Cornelia Bargmann of the Rockefeller University and Dr. William Newsome of Stanford University to define detailed  scientific goals and develop a multi-year scientific plan for achieving them;
• Public-private partnerships in which federal research agencies will partner with companies, foundations and private research institutions that are also investing in relevant neuroscience research; and
• maintaining highest ethical standards in all studies within this initiative.

Introduced by NIH Director Francis Collins, MD, PhD, President Obama spoke about the promise of scientific innovation, and the importance of attracting the best scientists and best entrepreneurs to the process.  In the new initiative, BRAIN stands for Brain Research through Advancing Innovative Neurotechnologies.

Shortly after this morning’s announcement, the American Academy of Neurology issued a statement applauding the initiative.  ”The cost of caring for patients with neurologic disease is currently about 300 times the research investment, yet funding for research into cures for brain disease is becoming scarce at a time when tremendous treatments are on the horizon.  Funding of the National Institutes of Health is at an all-time low, as federal funding for research through NIH has decreased every year since 2003.”

While NORD represents ALL Americans with rare diseases, we see the new initiative as a good first step that, we hope, will lead to renewed focus on scientific advancement for all.  The establishment of this initiative is important at this moment in time when funding for medical research seems more uncertain than at any other time in recent years.

We are encouraged by this statement of support for innovative medical/scientific research.  Moreover, we believe it opens the door for establishing a framework and pathways that could be applied to promote innovation across the broad spectrum of serious rare diseases that currently represent unmet medical need.

NORD’s Vice President of Public Policy, Diane Dorman