Breaking the isolation of rare diseases

Rare disease day

Rare Disease Day in Sacramento, California

How can something that affects 30 million Americans, one in ten people in the US, be called rare? But that’s the case with people who have a rare disease. There are around 7,000 different diseases that are categorized as rare because they affect fewer than 200,000 people. Less than five percent of these diseases have a treatment.

That’s why last Wednesday, in cities across the US, members of the rare disease community gathered to call for more support, more research, and more help for families battling these diseases. Their slogan tells their story, ‘Alone we are rare; Together we are strong.’

At the Rare Disease Day rally in Sacramento, California, I met Kerry Rivas. Kerry’s son Donovan has a life-threatening condition called Shprintzen-Goldberg Syndrome. Talk about rare. There are only 70 documented cases of the syndrome worldwide. Just getting a diagnosis for Donovan took years.

DonovanDonovan suffers from a lot of problems but the most serious affect his heart, lungs and spinal cord. Getting him the care he needs is time consuming and expensive and has forced Kerry and her family to make some big sacrifices. Even so they work hard to try and see that Donovan is able to lead as normal a life as is possible.

While the disease Kerry’s son has is rarer than most, everyone at Rare Disease Day had a similar story, and an equal commitment to doing all they can to be an effective advocate. And their voices are being heard.

To honor the occasion the US Food and Drug Administration (FDA) announced it was partnering with the National Organization of Rare Diseases (NORD) to hold listening sessions involving patients and FDA medical reviewers.

In a news release Peter L. Saltonstall, President and CEO of NORD, said:

“These listening sessions will provide FDA review division staff with better insight into what is important to patients in managing their diseases and improving their quality of life. It is important for FDA to understand, from the patient perspective, disease burden, management of symptoms, daily impact on quality of life, and patients’ risk tolerance. Patients and caregivers bring a pragmatic, realistic perspective about what they are willing to deal with in terms of potential risks and benefits for new therapies.”

FDA Commissioner Dr. Scott Gottlieb said his agency is committed to doing everything possible to help the rare disease community:

“Despite our successes, there are still no treatments for the vast proportion of rare diseases or conditions. FDA is committed to do what we can to stimulate the development of more products by improving the consistency and efficiency of our reviews, streamlining our processes and supporting rare disease research.”

At CIRM we are also committed to doing all we can to help the cause. Many of the diseases we are currently funding in clinical trials are rare diseases like ALS or Lou Gehrig’s disease, SCID, spinal cord injury and sickle cell disease.

Many pharmaceutical companies are shy about funding research targeting these diseases because the number of patients involved is small, so the chances of recouping their investment or even making a profit is small.

At CIRM we don’t have to worry about those considerations. Our focus is solely on helping those in need. People like Donovan Rivas.

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