Here is what Chloe's mom, Jeri, had to say about their 1p36 journey:
"Chloe was born with severe respiratory issues, failure to thrive, low tone and at six weeks developed seizures. After seeing a neurologist we found out that Chloe was born with a condition called agenesis of the corpus callosum (missing the part of the brain that connects the two halves of the brain). This was causing her seizures. After researching her condition we were convinced that it couldn't just be this condition. That her facial features and other slight differences in appearance had to come from something else. It took Chloe refusing to eat and almost dying before we were able to get her true, complete diagnosis, 1p36 Deletion Syndrome. I can't help but wonder if we wouldn't have been able to prevent so many of her issues and illnesses if we would have found out sooner.
"Chloe was born with severe respiratory issues, failure to thrive, low tone and at six weeks developed seizures. After seeing a neurologist we found out that Chloe was born with a condition called agenesis of the corpus callosum (missing the part of the brain that connects the two halves of the brain). This was causing her seizures. After researching her condition we were convinced that it couldn't just be this condition. That her facial features and other slight differences in appearance had to come from something else. It took Chloe refusing to eat and almost dying before we were able to get her true, complete diagnosis, 1p36 Deletion Syndrome. I can't help but wonder if we wouldn't have been able to prevent so many of her issues and illnesses if we would have found out sooner.
Upon receiving her diagnosis I immediately went to find as much information as I possibly could. Sadly enough there wasn't much information to be found and what I could find was depressing and misleading. Finally, I found a wonderful group of people through yahoo groups and Facebook that led me in the right direction. Without information, support, funding for treatment and the ability to make this condition known to our medical facilities and pediatricians so many more children will go undiagnosed. The families and children affected will not know the true hope that exists for them and the future the right treatments can bring"