Families for Research- Being Bertrand
The Eccles Institute of Human Genetics established a unique program at the University of Utah called the Families For Research(FFR). This website was initiated to support families who are interested in raising funds for genetic research. FFR was inspired by the McIntyre family who sought a cure for their son Carson. Since Carson suffers from a form of muscular dystrophy that affects a relative small number of boys no funding was available for the research. Families have the opportunity to become official University of Utah volunteers to raise funds in support of research. FFR families will also get their own website and donation pages to support research specific to their interests. Today there are many areas of genetic research being conducted at the Eccles Institute of Human Genetics.
Bertrand and his parents are wonderful examples of a fundraising family. Bertrand was born on December 9, 2007; Bertrand is a charming, serious, young man. He lives in Salt Lake City, UT with his parents Matt and Cristina. Bertrand suffers from a TBD genetic disorder, his symptoms include: global developmental delays, leukodystrophy, multifocal epilepsy, neuropathy, autism, cortical visual impairment, movement disorder and lack of tears (alacrima).
In his short life Bertrand, has been subjected to hundreds of blood draws, countless tests, endless doctor's visits and he has to be monitored for seizures continuously. Bertrand, once given a life expectance of only 24 months, thanks to unwavering support of his loving parents and a medical/therapy team of near 30, has beaten the odds and has thankfully surpassed this milestone.
Bertrand's family have chosen to share his story in hopes of finding a path to a better quality life for their beautiful boy. With conviction they have forged through the tough times and triumphed. The following is a letter written by Cristina, Bertrand's mother.
Before Bertrand, I always assumed that it was thanks to mothers that there were children. Now I know that it is really thanks to children that there are mothers. To me, that distinction is an important one. Motherhood is not about being the center of a child's world, but rather about having a child at the center of yours.
It is safe to say that Bertrand is at the center of more than just my world. As grandmothers, great-aunts and aunts, I know you share in the pain of Bertrand's continued suffering and the uncertainty of his situation. So, our mothers' day gift to you (and myself) this year is particularly meaningful: a $1000.00 donation to the Bertrand Might Fund for the University of Utah Rapid DNA Sequencing Center. We hope this gift is the first step in obtaining answers for mothers everywhere and, someday, cures for their children.
The University of Utah Rapid DNA Sequencing Center is the first of it's kind in the world. Imagine if Bertrand had been able to avoid the scarring of his veins from getting 4 pints of blood (the equivalent blood in 16 newborn babies) drawn over the past two years. Imagine if Bertrand could've avoided the over $50,000.00 in genetic tests he's had with just one $5,000 rapid DNA sequencing test. This is the opportunity the center providing to other children in Bertrand's situation, one of suspected genetic disease. And as for Bertrand? We hope that with additional contributions to his fund, he will be one of the first "test" cases for the Rapid DNA Sequencing Center when it opens in September 2010.
Combined with the testing of Matthew and myself, geneticists may be able to determine where Bertrand's genome differs from ours or how it fits within existing genetic disease frameworks. We may finally receive answers: answers that could help us plan for Bertrand's future as well as our own.
That I may be finally able to plan for the future of my precious child (and that he may even have a future!) would be a priceless gift--one we would all enjoy and one that Bertrand certainly deserves.
Happy mothers' day!
To contribute to the genetic sequencing center in honor of Bertrand click here.
To read more about Bertrand's progress you can visit his Blog here.
The Eccles Institute of Human Genetics (EIHG) is very grateful to the families who have dedicated their time and resources in support of genetic research. You can build your own team in support of research. Millions of people suffer from genetic diseases. Maybe a loved one or a friend needs your help to support life-saving research. You have the power to bring about change. For more information contact Debbie Peterson at email@example.com or call 801-585-3156 (office) 801-580-7441 (cell) to see how you can make a difference.By Tawnja Carballo Health Sciences Development