Only 300 people in the world have been diagnosed with a deadly genetic condition called MeCP2 duplication syndrome. MeCP2 duplication is a cureless neurological condition that typically affects males and proves fatal in their young 20s.
14-year-old Brody Meaux of LeBleu Settlement is fighting to live with this rare disease.
Parents JoAnn and Jimmy Meaux cherish each day with Brody, the child they tried for years to have. "We had to go through a lot of testing to get pregnant, but once we did, we were very happy to know that we finally had a child on the way," said Jimmy.
The pregnancy went smoothly, but the excitement was always shadowed by the chance that the Meaux's baby might be at risk of developing the same mysterious illness that took the lives of his male cousin and three young uncles. "It was marked by mental retardation, not walking, not talking at all, having a lot of trouble eating, a lot of seizures," said JoAnn.
A brain scan at birth relieved the new parents' fears and life seemed perfect until Brody missed important milestones. "Around six months, we noticed he was not meeting milestones like being able to roll over on his own or walk or talk," said JoAnn.
Intensive therapies helped Brody learn to walk at age three. He made noises, but did not talk. Still, he could communicate his needs, happiness and intellect. "He was really, really smart and was learning a lot through his education," said JoAnn.
But then, around age nine, Brody started having severe seizures. "Everything went downhill, he couldn't eat anymore, he lost the ability to walk," said JoAnn.
Geneticists and numerous health specialists could not figure out the problem. "We tested for years and tried to find out what it was," said Jimmy, "and we were getting ready to give up, just knowing that he was mentally handicapped."
Then, a medical breakthrough: a researcher in Houston created mice with MeCP2 duplication syndrome. Next, a blood test was developed to test for this gene that affects brain function. "It's really a gene that has to be just the right amount in our bodies for us to be normal," said Jimmy.
MeCP2 duplication syndrome typically only affects males and is passed down on the X chromosome. Brody was one of the first in the world to be tested and it showed he had too much of the MeCP2 gene.
Brody is now on a feeding tube, unable to walk or use his hands and dependent on breathing treatments and medications to stay alive.
While the Meauxs watch Brody's health deteriorate, they are pushing for money to fund a pending research experiment on treatment for those with MeCP2 duplication syndrome. "It's up to us, the parents, to get out there and raise the money to be able to do the project which might come up with a treatment that will make our children's lives better," said JoAnn.
MeCP2 duplication syndrome is similar to Rett syndrome in girls.
There is a $730,000 research project to learn more about these disorders and the Meauxs are hosting a 5K/1K Brody's Bunch Run for Research to raise money.
The event is Saturday, November 16th at Iowa City Park. The cost is $25 and includes a T-shirt if you register by Friday afternoon. Register with JoAnn Meaux.
You can also donate to the Brody's Bunch 15 for 15 fundraiser with 100 percent of the money going towards finding a cure for MeCP2 duplication syndrome. The goal is to raise $15,000 for Brody's 15th birthday on Feb. 2, 2013. Click here to donate.