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.

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