The Duke University Anencephaly Medical Research Study
The Duke University Medical Center, is currently conducting a genetic study called "The Hereditary Basis of Neural Tube Defects" to determine the causes of anencephaly and other NTDs. By studying families with anencephaly and other NTDs, we hope to identify the genes that contribute to the development of the neural tube. We hope this research will eventually lead to more accurate genetic counseling and risk assessment, improved treatments, better prevention methods, and possibly, a cure.
Gabriel's Story of Cord Blood Donation to Duke
as told by his Mother Andrea
Purposefulgift.org
Tuesday, June 14, 2011, Elise and I sat in my living room with Gabriel, still in awe that my anencephalic son was alive, against the odds, after having been born four days earlier with the terminal birth defect.
The doorbell rang. A delivery man was on my doorstep. I passed Gabriel to Elise, his tiny brain exposed by the absence of skull and dressing. I walked into the kitchen and took a package out of my refrigerator, and handed it over to the delivery man. The package contained Gabriel’s umbilical cord blood, preserved at his birth, to be transported to Duke University’s Center for Human Genetics, now the Duke Molecular Physiology Institute, where it would be broken down and studied.
There are a few things I know: 1. Losing a child must be the most painful experience on this earth. 2. No one, not one single person in this world, should ever have to experience such a loss. 3. My son died 6 days after that Tuesday, and his death was beyond my control. 4. Gabriel’s cord blood became part of the foremost study of anencephaly in the world, which continues to yield more information about the causes of anencephaly. Though Gabriel is gone, his legacy lives on in that study.
There is a hope that sustains me: Someday, because my son died, another child may get to live.
Saturday, June 14, 2014, three years after I submitted Gabriel’s umbilical cord blood for study, a group of runners gathered at the Rio Bravo Ranch in Bakersfield, California, 3,000-something miles away from Duke University to raise money for that same anencephalystudy. Many participants wore mullet wigs in keeping with the theme, Gabe’s Magic Mullet Run, inspired by the movie “Joe Dirt” wherein the protagonist was born with a defect described as similar to anencephaly, but who is kept alive by a mullet wig given to him by his mother to protect him. As I stood in front of that crowd moments before the start of the race and shared with them why we were gathered, my heart swelled with pride. They were there running for the real-life mullet, the real-life answer to the mystery of anencephaly. They were running to find a cause, a treatment beyond palliative care, maybe even a remedy someday. They were running because my son lived. If only for a brief time, he still lived. His unique set of stem cells and DNA are his “footprint” in this world and, three years after his passing, he’s still making tracks.
C Bethany. "Purposeful Gift." Purposeful Gift. Purposeful Gift, 1 Nov. 2014. Web. 08 Mar. 2015.
Make a Monetary Donation in your Childs Honor
The Luca Hill Acrania and Anencephaly Foundation uses donations and proceeds from various events to provide funding for the anencephaly research being done at The Duke University Medical Center and to assist us in our efforts of creating more awareness and providing support to families and communities who have been effected by Acrania and Anencephaly. We encourage families and communities to join us in our efforts and are honored to assist you in creating fundraisers and events to honor a family or child affected by Acrania and Anencephaly and to help provide Acrania or Anencephaly awareness to communities. Click to learn more about hosting events in your area!
You can also make a donation directly to The Luca Hill Acrania and Anencephaly Foundation
You can also make a donation directly to Anencephaly Research at Duke University in honor of LHAAF, your child, or a family that has been affected by Acrania or Anencephaly by going to www.giftrecords.duke.edu.
Click on "Make a Gift Now" and then "Make a Credit Card Gift." Under Designations click on the field called
"Add an unlisted designation."
Donors must write-in 391-2359.
There is also a place toward the bottom where donors can dedicate the gift.
Or checks can be mailed to:
Duke University Medical Center
NTD Research Fund
Box 3445
Durham, NC 27710
Every penny is gratefully appreciated! Thank You.
Jeff Stajich
Physician Assistant
Heidi Cope
MS, CGC - Study Coordinator
Allison Ashley-Koch
PhD - Professor of Medicine
Simon G. Gregory
PhD- Associate Professor of Medicine
and Medical Genetics
Karen Soldano
Lab Research Analyst
Meet the Research Team
