Diagnosing Rare Disease in Children – The Role of DNA Sequencing – Segment 3: March 26-28
With the generous support of Life Technologies Foundation, PBS’ To The Contrary looks at DNA sequencing technology and the benefits it holds for children battling rare disorders.
There are close to 7,000 rare diseases affecting 25 million children and adults in the U.S. alone. Nicole Boice, Founder and President of The Children’s Rare Disease Network says these children and their families often face delayed diagnoses, and very few treatment options.  Boice receives calls everyday from parents in a relentless search to find any information on their child’s disease. Joe and Retta Beery know all too well the stresses and heartbreak of having a child with a rare condition. The Beery’s twins Alexis and Noah suffer from dopa-responsive dystonia, but weren’t diagnosed with the condition until they were five. Now 13, the Beery twins eventually found life-altering treatment, but not before several emotionally and physically draining years battling the unknown. In the third and final segment of a three-part series on DNA sequencing and children with rare diseases, PBS’ To The Contrary investigates how rapidly developing sequencing technology will be able to help diagnose, treat, and potentially cure rare conditions from the onset of symptoms. Tune in the weekend of March 26th for Part III in this three part series, as the Beery family shares their story of hope and survival for the rare disease community.
“We spent five and a half years searching for what in essence is a relatively simple problem to solve. And it’s in those five and a half years as a parent that there would have been nothing that you wouldn’t have given to make them more comfortable, to get them to where they are today. And I think in sequencing, having had the ability to identify this problem early on, right after birth, would have been phenomenal. – Joe Beery, Parent
“What it [DNA sequencing] provides this community is unprecedented. It’s what we’ve been waiting for.” – Nicole Boice, Founder/President, The Children’s Rare Disease Network
Click here to link to the show.   https://RAREproject.org/news/pbs.php