We now have an answer for why our son has been struggling so much medically. It turns out he has a genetic mutation in a gene SHOC2 which causes a condition called Noonan Syndrome-Like Disorder with Loose Anagen Hair. This is all new to us, we only found out about it yesterday. It’s been even more difficult to get our minds around it because Dad is still recovering from his surgery. From what I can tell so far the diagnosis is overall good news. Speaking to other parents whose children also have this condition, it’s quite possible our son will grow out of his feeding difficulties. It’s also not a degenerative disease, so whatever he accomplishes won’t be lost to the condition as he ages.
I’m still sorting out my emotions, and I guess that’s to be expected considering we didn’t expect to ever get a clear diagnosis. Now we have one that is 100% accurately diagnosed via genetic testing and fits all of his difficulties perfectly making it likely it’s the only medical problem he has. Thankfully he’s talking well for his age, which makes it unlikely he has cognitive delays. He’s also close to walking, so we can reasonably expect he will walk. The main issues he’s fighting are gastrointestinal, and there’s a chance they’ll become less of an issue as he grows.
Hopefully, we’ll know more about what we can expect soon. We called all his doctors we could reach yesterday to let them know about the diagnosis and we have an appointment mid-October with a doctor that studies Noonan Syndrome and similar conditions.
Photo Credit – http://www.foe.org/projects/food-and-technology/gene-patents