30/01/2020
5 more days before Firas travels to climb Mt. Kilimanjaro in honor of our son Kai and to raise awareness for Rett Syndrome.
Kai was the first case of Rett Syndrome in a boy registered in Lebanon.
When I was pregnant, I had an equal chance of having a baby with Rett Syndrome as the general population. There is less than a 1 % chance for a spontaneous gene mutation to occur while the embryo is forming. It is not hereditary and we don’t have any family history of Rett. But it happened. At the time, I had no idea that other children and parents were struggling from this very same disorder. Doctors did not know either and could not even guess the diagnosis until Kai turned 9 months and his genetic test results came back. Chances are that slim but come with devastating lifetime consequences. What hurts more than the diagnosis, more than looking at my son everyday dreadful at the thought of losing him, fighting for his quality of life day in day out, is having to live without him. We really never know when it’s going to hit close to home or home itself.
Please help us raise awareness and let’s make a difference. Take the time to read below to know more and to share.
Rett Syndrome is a serious, degenerative lifelong neurological disorder that is caused by random mutations in a gene called MECP2. Diagnosed almost exclusively in girls, symptoms typically appear in toddlerhood. Many children with Rett are unable to speak, walk or use their hands. Breathing problems, feeding tubes, seizures, anxiety, gastrointestinal and orthopedic issues are common. The symptoms continue to get worse, no matter how well managed, resulting in early death, early adulthood in girls and early infancy in boys. This degenerative disorder predominantly occurs in girls and extremely rarely in boys. In 2006 there were only 11 known cases of boys with Rett.
Rett Syndrome Research Trust are confident that Rett Syndrome one day will have a cure through the research they are funding. After conducting tests on mice, they witnessed the symptoms reversing dramatically and are now more confident that a cure can be found.
To know more, please visit https://reverserett.