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 have a love hate relationship with our son being undiagnosed. On one hand it allows me to be confident whatever he’s struggling with is not on the list of common issues with a poor prognosis. On the other, there’s no specific medical term to tell people when they ask why he has a feeding tube, low muscle tone, and random spells of fever for no obvious reason. I have met other mothers who have children with similar problems in online support groups, but most people have never heard of the combination of symptoms we’re dealing with.