A Chat With Rare Disease Advocate Ed Fennell

Source: healthworkscollective.com

Last week I had a fascinating phone conversation with rare disease advocate, Ed Fennell. Full of energy, he is helping to care for 2 young granddaughters – each with a rare disorder.

Hayley, who is now 6 years old, had her first seizure at 6 weeks old. It took 2 years for the family to get a diagnosis of CDKL5 Atypical Rett Syndrome. Hayley has very few physical illnesses, but has severe developmental delays. Fennell is hopeful that she will be able to communicate 1 day using eye gaze technology.

Two-year-old Emily lost 98% of her small intestine and has Short Bowel Syndrome. She has a permanent IV line, parenteral feeding and ileostomy bag. Emily is thriving, but they are constantly on guard for infection.

Fennell is mostly retired after a 35-year career running a private consulting business on labor issues. He now spends his days helping to care for his 2 granddaughters. When Hayley started school last year, Fennell found himself with time on his hands. Instead of relaxing, he decided to take action. He wrote a letter to the local teaching hospital, Albany Medical Center, that described the importance of rare disorders and that the hospital should get involved. “I described how rare disease families wait too long for a diagnosis, don’t know where to go for care and need to be handled with greater efficiency,” said Fennell. He proposed engaging the rare disease community with the hospital and holding an event on Rare Disease Day.

To his pleasant surprise, Albany Medical Center responded with a budget and resources. They created Albany Medical Center’s first forum for rare diseases on February 28, 2013. Held at the hotel connected to Albany Medical Center, more than 85 people attended including: rare disorder patients/caregivers, special ed staff from local schools, early intervention specialists, public health nurses, reps from advocacy groups and 6 physicians. “This diverse and excited group felt we had started something unique,” explained Fennell. “The decision to collaborate with the medical center was innovative and getting their support was key.”

The next challenge
“My next goal is to expedite the diagnostic process for rare disorders at Albany Medical Center and within the region,” said Fennell. “When doctors find something mysterious they shouldn’t presume it’s not a Zebra. They should try the new rare disease search engines, like FindZebra.com. They shouldn’t hesitate to get their patients appointments with national centers of excellence for a consult.”

Fennell described the importance of getting a diagnosis, “We need a diagnosis so we can get introduced to other people dealing with similar circumstances. You then become part of that family.”

“I also want to help coordinate the ongoing, long-term chronic care administration of services for rare disease families at Albany Medical Center,” noted Fennell. “Over time, we learned how to do this with our children and I want to help others get fast tracked.”

Anyone who is interested in learning more can contact Fennell via email at efennell43@gmail.com.

Authored by:

Eileen O’Brien

Eileen has more than 16 years of digital healthcare marketing experience. Working at Siren Interactive, she focuses on the rare disease and orphan drug niche within the pharmaceutical industry.

Takeaways from the Rare Disease & Orphan Drug Leadership Congress

Takeaways from the Rare Disease & Orphan Drug Leadership Congress

I was tweeting fast and furiously at the 7th Annual Rare Disease and Orphan Drug Leadership Congress on July 18 and 19 in Philadelphia, and here are some of the insights I captured. Stephanie Okey from Genzyme did an excellent job moderating and set the tone by starting off the conference saying, “No disease is too rare to deserve treatment.”

For me, the highlight of these events is getting to meet rare disease advocates in person, and I captured a few on video. One panel of patient advocates included Dean Suhr of the MLD Foundation and the RARE Project, Kim Ryan of Fight Colorectal Cancer and Jill Panetta, PhD, of the Polycystic Kidney Disease Foundation. The topic was “How to Interact with Advocacy Groups to Facilitate Access.” This was a key theme that resonated throughout the two days: in the orphan drug space, it is essential for pharmaceutical companies to engage with patient advocacy groups. This echoes what we’ve learned at Siren in our more than ten years of working in the space.

Patients are impatiently waiting
The patient advocate panel agreed that it’s essential in the orphan drug space for biopharma companies to proactively communicate with advocates. Ryan noted that the earlier the better that advocacy groups are involved in the clinical trial process. Even in rare diseases a lack of awareness and understanding can be a barrier to clinical trial participation. As a result, advocacy groups are taking a much more active role in supporting clinical trial education.

Dr. Panetta explained that the current patient-led demand for treatment is driven by pipeline transparency, the rise of empowered patients and social media. She said that rare disease patients are closely following the advances in basic research and “patients are impatiently waiting for treatments.”

Focus on the patient
In his presentation Roger Garceau, MD, from NPS Pharma, made it clear that his company takes a patient-centric approach. He declared that when rare disease advocacy groups exist they are very influential and can be a valuable partner for pharmaceutical companies. He noted that access is not just providing drug, but that companies have to provide “burden-free product access.”

Other high points included Emil Kakkis, MD, PhD, presenting the work that he is doing with the EveryLife Foundation for Rare Diseases and Marc Boutin from the National Health Council discussing how the MODDERN (Modernizing Our Drug and Diagnostics Evaluation and Regulatory Networks) Cures Act addresses current barriers. Elizabeth Ottinger, PhD, from the National Institutes of Health, described the progress of the Therapeutics for Rare & Neglected Diseases (TRND) program. Since 2009 there have been 14 projects with two drugs currently in Phase I, as well as one natural history study. She announced that the program will soon be accepting applications for new projects.

I left the conference feeling both inspired and overwhelmed—inspired that great progress is being made and a little overwhelmed by the many challenges ahead.

By Eileen O’Brien, Director of Search & Innovation at Siren Interactive

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The Importance of Patient-Initiated Research

Sharonne N. Hayes, MD, from the Mayo Clinic, recently authored a blog, “The potential of patient initiated research in studying rare diseases,” where she described her experience with the rare disease SCAD–spontaneous coronary artery dissection. Katherine Leon had connected with other SCAD patients via the WomenHeart Inspire online community and over the years had collected information on 70 people. At a conference, she approached Dr. Hayes about how she could help spur more research into SCAD, and a partnership was born. At the conference Katherine also met SCAD patient Laura Haywood-Cory who helped recruit patients online and keep momentum going.

“Our research team’s success in conceiving, piloting, refining, obtaining funding and recruiting for SCAD research, including the development of a DNA biobank for future genetic investigations at Mayo Clinic,” wrote Dr. Hayes, “could not and would not have transpired without the active and ongoing participation and support of ‘SCAD ladies.’” Mayo has followed-up with another trial with 200 SCAD patients and an equal number of their close relatives.

“The people most highly motivated to support or to even initiate investigations of a rare condition are those personally affected and their close relatives,” noted Dr. Hayes. This is something we have seen many times at Siren through our 12 years working with rare disease patients. The SCAD research is just one highly visible case. Other rare disease patients and caregivers are not only recruiting for research but funding it themselves.

Running a virtual biotech from the kitchen table
Another amazing example of patient-initiated research is Lori and Matt Sames of Hannah’s Hope Fund. When their youngest daughter was diagnosed with giant axonal neuropathy (GAN) in 2008, they were told that it is a terminal disease and soon realized there was no ongoing research, no foundation, no fundraising. So they got to work. Using social media, they raised money and awareness. The Sames had a successful pre-IND meeting with the FDA and at the end of the year are scheduled to initiate clinical trials with 11 children with GAN at University of North Carolina at Chapel Hill. They need an additional $500,000 to pay for the cost of the trial.

Buying and developing a drug
After an Israeli biotech company stopped investigating a promising medication, the Seckler and Wicka families bought the therapy and decided to develop it themselves as a possible treatment for their children’s Duchenne muscular dystrophy. The company, Halo Therapeutics, has been granted orphan drug status for the therapy by the FDA.

The most famous example of patient-initiated research is John Crowley, who had a movie based on his efforts to find a treatment for his children with Pompe disease. As we move forward with increased collaboration within the scientific community, the proliferation of the use of social media and inspiring stories like the ones above, I think this trend of patient-initiated research will continue to grow. What do you think?

By Eileen O’Brien, Director of Search & Innovation at Siren Interactive

Send your blogs to rare.disease@checkorphan.org if you would like us to publish them. Visit CheckOrphan for more information