Rare Disease and the Need for Research

February 28th is Rare Disease Day. This year’s theme is: Research. How can we support research efforts for our rare disease? We can donate to our patient advocacy organizations that

spearhead research efforts. And we, as rare disease patients, can participate in research studies and clinical trials.

This podcast episode features three individuals. Amy Lynn Ream and Dean Sage both participated in phase 1 clinical trials for a potential treatment for myotonic dystrophy. Hugo Trevino, who has spinal muscle atrophy (SMA), is in his third week of Spinraza infusions and already feeling positive effects.

Hugo recommends for all those with a rare disease, check out this link to see if you’re eligible to participate in any research studies.

If you care for someone with a neuromuscular disease — like myotonic dystrophy, SMA, or the 40+ other rare neuromuscular diseases — please donate to the Muscular Dystrophy Association.

 


Skydiving, Triathaloning, and Mountain Climbing!

Joe sky dives, Nancy runs, and Rob climbs

Three stories about people taking on physically and emotionally challenging adventures. Joe Akmakjian, who lives with Spinal Muscle Atrophy (SMA), is the first adult MDA National Ambassador. Joe celebrated his 24th birthday by jumping out of a plane with friends. Nancy, after surgery and treatment for ovarian cancer, trained for an AIDS ride and moved on to compete in triathalons. Rob Besecker decided to celebrate his recovery after a series of cardiac surgeries by climbing Mount Everest.


Sassy in a Wheelchair

Tis the season to talk romance and who better to hear from than our disability community sexpert, Dr. Danielle Sheypuk? Danielle — a licensed psychologist in New York City — discusses dating, sex, society, and disability.

For more information about online therapy, visit daniellesheypuk.com/

On a different note, here’s a webinar with Dr. Sheypuk on Coping with Depression.