Girl with rare genetic disorder finds 2 perfect bone marrow donor matches
Posted May 28, 2014 5:16 pm.
This article is more than 5 years old.
A little girl, born deaf and one of the youngest to receive cochlear implants at SickKids Hospital, is now fighting the biggest challenge of her life.
Four-year-old Braydy Abbott has been diagnosed with Emberger syndrome, an extremely rare genetic disorder, which causes a type of cancer called myelodysplastic syndrome.
“Braydy has a condition that’s going to make, over time, her bone marrow stop working,” Braydy’s doctor Michaela Cada explained. “The only really curative option for that is a bone marrow transplant.”
Danielle Abbott, Braydy’s mother, says this is only the eighth case of Emberger syndrome diagnosed worldwide.
“SickKids has informed us that they’re working very diligently with the U.K. to foresee what we should be expecting,” Abbott told 680News.
Testing determined that no one in Braydy’s family was a match for the transplant. Abbott said that’s when they reached out to strangers through the One Match program in hopes of finding a donor.
Two perfect matches were discovered.
“It’s not very common but we’ve become very lucky because people are very generous,” said Dr. Cada. “The journey, although long, is full of hope and possibilities.”
Abbott said they are forever grateful to the two matches and says she hopes others see just how important it is to donate.
“There’s only so much that (doctors) can do,” she said. “They rely on a lot on people to help.”
To promote stem cell and bone marrow donation, the family is holding a swab event on June 21 in Oshawa.
The Be Brave Swabbing and Community BBQ will take place at Body Boomers Fitness Club at noon. The family is asking friends and family of the ages 17-35 to come and get a free swab test.
Click here for more information on the event.
