Help Kinkades Fight Genetic Disease
Chrissy and Matt Kinkade fell in love in graduate school, moved to California and were married 3 years later. They worked hard on their careers, but knew their greatest achievement would be to raise a child. Cole Robert Kinkade was born (seemingly) healthy on July 14, 2015 via Cesarean section after an otherwise normal pregnancy.
Cole was so beautiful and funny and happy! He loved to sleep and watch football with his Dad. And eat of course. His favorite activity was reading The Lorax with Mommy.
The Kinkades were so happy. When Cole was around 3 months old, his Doctor noticed arm and leg weakness and ordered some tests. DNA tests were started to rule out rare diseases. Cole rapidly got weaker and began losing the ability to keep food down. Two weeks later, Cole was admitted to the pediatric ICU and the Kinkades stayed with him until he was discharged 10 days later. After a multitude of tests, he went home with a feeding tube, a ventilator, a food pump and terrified parents. Unbeknownst to anyone, all of Cole's muscles were rapidly breaking down.
The Kinkades had to learn how to address Cole's new needs quickly. 24-hour feeding with the pump. Nighttime ventilation. How to adjust his feeding tube location so it didn't cause skin abrasions. Dealing with insurance companies and medical equipment suppliers. One thing they didn't need to learn was how to love their son. Despite the loss of the use of his arms, legs, and neck, they helped him "swim" every day in the tub and took him fun places with his relatives like the redwoods and the beach. Just after Christmas, Cole took a turn for the worse and had to return to the hospital. The Kinkades never left his side and relished every moment with their son until he passed away in their arms at 5 and a half months old.
On the day before Cole died, those DNA tests came back and revealed that he suffered from something called TK2-related mitochondrial DNA depletion syndrome, a genetic disease that has only been diagnosed 40 times in the history of mankind. The syndrome is so rare, many of his doctors had never even heard about it. Chrissy and Matt found out they were both carriers for different bad mutations in the TK2 gene and sadly, Cole received both bad copies at conception.
The chances of all the independent events that led to Cole's demise occurring together are infinitesimally small, but they can happen to anyone.
You can help prevent this tragedy from happening again.
Your donation will:
-Help the Kinkade family screen their relatives for the presence of their mutations in order to prevent them from having children with mtDNA depletion syndrome
-Help geneticists understand the true prevalence of pathogenic mutations in the TK2 gene so that mtDNA depletion syndrome can't claim any more victims
-Enable the Kinkade family to relive their dream of raising a child by easing the financial impact of IVF and pre-implantation genetic diagnosis in future pregnancies