It’s always so unpredictable what’s going to set our son’s digestive system off. You would think since he eats the same thing every day for most of his calories that he would be relatively consistent. You would be wrong, unfortunately. No matter how consistent we keep the external factors he has his own ways of surprising us.
We’ve been through a lot with our son. He’s been admitted to the hospital a few times. We’ve been in and out of the ER to run tests only a hospital can run on short notice. So far we’ve come through with news that’s left plenty of room for hope. I’m terrified tomorrow’s going to be different. Now that we have a diagnosis, even though it’s a rare one, there are still going to be expected outcomes depending on how other children with the same diagnosis have developed.
These expected outcomes could all be wonderful. There are certainly other children with the SHOC2 gene mutation which have had feeding tubes when they’re young and have come off of them as they’ve gotten older (you can find Facebook support groups even for very rare diagnosis). There is a lot of room for concern, however. One of the main sources of concern for any of the Noonan Syndrome or Noonan Syndrome-Like disorders is problems with the heart. We thought his heart was just fine, but he’ll have to be followed by cardiology to make sure that doesn’t change.
This last week has been difficult. If you follow my Twitter feed you’ve probably seen me mention, the toddler and I both came down with a nasty cold. Dad’s surgery has left him unable to lift more than 10-15 lbs, which means almost everything but the toddler.
— Ashley Bergris (@AshleyBergris) October 5, 2015
So, the two of us have been having our own little mini-party while Dad does his best to help me without being able to lift the poor fella and tries to avoid getting sick at the same time. So far he’s been successful.
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.