RG Board Members Invited by President Obama to Precision Medicine Initiative Announcement

Noah and Alexis Beery are two of the world’s first children to have their lives transformed by precision medicine: they have a rare disease that causes irregular levels of serotonin and dopamine, which was diagnosed with genomic sequencing. Their parents, Joe and Retta, are RG board members. The family was invited to the White House for the President’s announcement of the Precision Medicine Initiative, a $215 million investment in the President’s 2016 Budget. The Precision Medicine Initiative will help support research for medical treatments tailored to specific characteristics of individuals, such as their genetic makeup. Included in the initiative is a new FDA approach for evaluating Next Generation Sequencing technologies — tests that rapidly sequence large segments of a person’s DNA, or even their entire genome, and which are conducted by RG’s research sites. The Beerys were asked for a short note on the twins’ journey with Precision Medicine that President Obama could share with the audience.

Retta discussed her experience with RG: “It was surreal to be there, walking through our country’s history, and realizing how many people who we’ve been working with over the past few years were in attendance.  The President was introduced by an 18-year-old girl who has been affected by Precision Medicine and is now studying science at Harvard.”

“The President shared a few personal stories of patients, and then told of the proposed $215 million dollars in funding for the NIH for Precision Medicine.  I looked at Noah and Alexis and thought about what their lives would be like if it weren’t for this technology, wondering if they would even be here today.”

“We walked across the street to attend a luncheon we were invited to, along with about 20-25 other patient advocacy leaders and patients.  Francis Collins, the head of the NIH, and members of his team came in and spent time with us.  Each one of us shared what this announcement meant to us.  It was so exciting to hear a young girl, who has a rare genetic mutation that has only been found in 17 patients, say that this was the best day of her life.”

Noah and Alexis had suffered from a mysterious illness since birth that caused movement problems, and were initially diagnosed with cerebral palsy. But because Alexis was able to walk in the morning, but by afternoon was unable to sit up or even move her arms, the family suspected a misdiagnosis. After Retta read about a neurological disorder that mimics symptoms of cerebral palsy, Noah and Alexis started taking a Parkinson’s drug, Levodopa, which vastly improved their symptoms. However, Alexis later developed severe breathing problems, and Retta turned to genetic sequencing in hopes of finding an explanation for their disease and better treatment. A team of scientists at Baylor University sequenced their genomes and found the mutations that caused their serotonin and dopamine irregularities. Noah and Alexis are now on medication that regulates serotonin and dopamine levels, and are healthy 18-year-olds.

With the announcement of the Precision Medicine Initiative, and the vast reductions in the costs of genetic sequencing, it is becoming easier than ever to seek a diagnosis for rare diseases. If you or someone you know has an undiagnosed disease that may have a genetic cause, RG can help with sequencing. Please see our Process page for further details.

For more information on the President’s Precision Medicine Initiative, see the White House Press Release.

If you are interested in learning more about Alexis and Noah’s story, they are featured in the Rare Genomics Free E-book.

March 2, 2015