The Road to Resolution

On Monday, I received an email from a researcher with The Manton Center for Orphan Disease Research informing me Grace qualified as a study participant. We have been talking with them for a couple months now. The only reason Grace wasn't immediately enrolled in the study was because they required a direct blood draw. However, after some internal meetings they changed the eligibility criteria to accept banked DNA which cleared the way for Grace to be enrolled.

This isn't the first research study we've participated in, but it is the most comprehensive and advanced study we've been involved with. Let me start with a little background about The Manton Center for Orphan Disease Research. An "orphan disease" is defined as any disease, syndrome, or disorder that affects fewer then 1 out of 200,000 people, mostly children under the age of 2. Statistically speaking, less than two-dozen newborns a year in the United States have an orphan disease.

In 2008, Children's Hospital Boston received a $25 million grant from the Manton Foundation to establish the world's first and only center for research on orphan diseases. Children's Hospital Boston in conjunction with Harvard Medical School is home to the world's largest pediatric research facility. With 1,100 researchers and support staff, The Manton Center is the nexus of arguably the world's richest concentration of research talent.

The study will start with a Whole-exome Sequencing of Grace's, Holly's and my DNA and possibly Gabe and Brendle's. It will be done using the most cutting edge technology today. Simply put, there is nothing in 2012 more advanced then what we're doing. It will analyze every single gene 10 to 75 times each. The testing will take 3-months to complete. However, the results could take years to completely analyze. If a mutation or error is found that gene will go through additional testing to confirm the findings. The testing will also look at the genes associated with Sulfite Oxidase Deficiency which I talked about last month.

Holly and I have been very protective of Grace's remaining DNA samples. We had very specific requirements before we'd use any more DNA for testing. Not only does the Manton study meet those requirements, it exceeds them.

They will also be doing some comparative testing with another family. In December, Holly wrote a blog title the 12 Days of Christmas Continued.... in which she talked about Sadie and Art. Sadie emailed me back in September after finding Grace's blog doing research on EME. They had a daughter, Eva, who was born in August 2010 and passed away in October 2010. She too was diagnosed with EME. Due to the extremely rare nature of EME/EMEE we were probably the only two families in the country caring for our daughters' with the same disorder at the same time. Being in Massachusetts they were fortunate enough to have Eva cared for at Children's Hospital Boston. The Manton Center has DNA and tissue samples of Eva that they want to compare to Grace. We feel so fortunate to have met Sadie and nothing would bring us greater joy to have our babies find the answers together. It would be the greatest gift they could give us.

We're very confident we're taking the right road. Even if no immediate findings are discovered, our participation will be in the hands of the world's finest researchers for years to come.