In a new interview with Medscape, Marshall L. Summar, chief of genetics and metabolism at Children’s National Medical Center in Washington, D.C. and NORD board member, talks about the importance of patient registries for rare diseases, and the role that NORD’s patient registry program has in helping patients and educating doctors. According to Dr. Summar, registries can accelerate the process of treatment and help physicians address the big knowledge gap about what happens in the day-to-day lives of patients. read more >
The cost of orphan drugs, and whether it is approaching a level where sustainability may be an issue, is a topic of intense interest in the rare disease community. However, an important new study reported at the recent American Society of Hematology meeting suggests that the overall budget impact of orphan drugs may be smaller than many people would assume. read more >
ESPN anchor Stuart Scott passed away last night at just 49 years old after his 7-plus year battle with appendix cancer. Mostly Scott’s passing makes me feel for his daughters, his family, his friends, and his colleagues. This is their time to reflect and remember him. However, I also think that his public presence makes it seem like we all knew him, and I think he taught us all something by how he handled his illness.
I didn’t know Stuart Scott. But I feel a special kinship with him because the broad outlines of his story and mine are remarkably similar. We were both diagnosed with appendix cancer in November 2007 – I went to the ER on the Friday after Thanksgiving and he had an emergency appendectomy the following Monday (while I was still in the hospital being diagnosed). We both had two recurrences – mine in 2009 and 2010, and his in 2011 and 2013, with multiple major surgeries as our rewards. We both went to work while our bodies absorbed incredible amounts of energy-depriving chemotherapy. We both fought with everything we had to live for our kids. So I didn’t know Stuart Scott, but I know something about what he went through in fighting appendix cancer.
By Lisa Phelps, NORD Director of Marketing & Community Relations
With every New Year comes the resolve of individuals to better themselves in one or more ways. But after the ball has dropped and the confetti is swept away, it’s difficult for 75% of people to remain committed to their resolutions beyond the first week!
This year, consider a resolution to which you can remain committed: Resolve to better the lives (and chance at life) for 30 million individuals – not just one.
Rare Disease Day is only eight weeks after New Year’s Day, falling on February 28, 2015. On this one-of-a-kind day, communities around the world will gather together to raise awareness among the general public and decision-makers about the 7,000+ rare diseases and their impact on the lives of patients. Started by EURORDIS and brought to the US by NORD in 2009, this pivotal day has contributed to national plans and policies to better the lives of patients in over 80 countries.
The New Year’s Resolution: Become a Rare Disease Day Partner and join the 30 million Americans impacted by a rare disease to help patients, caregivers, and organizations working to advance the availability and delivery of information, research, education, treatment and care.
1. You Can Donate to support events and activities by patients and advocates
2. You Can Help Host a State House Event, or join one already in planning
3. You Can Share the Rare Disease Day Message with friends and decision-makers through social media, media/press, or in writing to your elected official
4. You Can Submit a Handprints Across America™ photo – using either your photo, or, if you’re feeling ambitious, find influential public figures to take a photo with the Handprints Across America™ handout! The most influential photo will be included in NORD’s 2015 media campaign with a story on the individual or group that submitted.
Let’s Achieve Our New Year’s Goals Together.
“Alone We Are Rare. Together We Are Strong.”™
As the holidays are in full swing, I cannot help but reflect upon the number of courageous families who are facing the most challenging times of their lives as they are impacted by rare diseases.
The Christmas season is a poignant one for me as I celebrate everything for which I am thankful and remember the fond memories of years past with my family. I also reflect upon the memory of my son, Trevor, who never had a chance at life as he was afflicted with a devastating rare disease called Metachromatic Leukodystrophy.
This neurological, progressive, degenerative disorder claimed his young life, robbing him of the simple pleasures we all enjoy: the ability to talk, walk, play ball, dance and simply grow up as we all should.
Every day, in my mind, I see his smiling face and behind him the silhouettes of 30 million Americans. Every day, I wake up and undertake my mission as parent advocate and the Director of Development of NORD.
RareDisease Dialog is the official blog for the National Organization for Rare Disorders (NORD). NORD’s staff and friends will share information of interest to the entire rare disease community.
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