A Scary Turning Point

A Scary Turning Point

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.

There’s an area where the diagnosis may be helpful as well. Some children with Noonan Syndrome or Noonan Syndrome-Like disorders have problems with growth due to hormone regulation. It’s possible we may be able to actually treat his apathy toward food. I want to get excited about this, but it’s difficult. We’ve had a lot of false hope in regards to possibly weaning him off of his feeding tube. At this point, I’m a bit of a cynic about anything being able to convince him to want to eat. I’ll try anything and give it 110%. It’s simply gotten to the point where it feels like we have tried and failed so many times this one last thing seems too good to be true.

Out of everything, what scares me the most is the way our family functions depends heavily on the outcome of this appointment. If he takes medication and no longer needs a feeding tube, that significantly changes how well he would function in daycare. We also see an immunologist this month. Depending how his immune system is functioning, that will also factor in. We could easily go from him needing my full attention to letting someone else care for him during the workday. There are such a huge range of possibilities, it’s overwhelming.

I know I shouldn’t be going over all these scenarios in my head, but I can’t help it this time. I think it’s because, no matter what comes out of the appointment, a significant change is coming in our lives.

2 responses

    • We’re adding one doctor (endocrine), but it’s not urgent and that’s all we need to change! They think the growth hormones may help a little with his height and muscle strength, but it’s certainly not a magical cure.

      It’s not at all unusual for a child with SHOC2 to have a feeding tube apparently. They usually grow out of needing one at their own pace. You just have to keep letting them progress at whatever rate they’re comfortable.

      The doctor told us we’re doing everything necessary to help him and it’s obvious we’re taking excellent care of him! It was amazing to hear that said by someone who is familiar enough with the condition to know it’s true and can say so with confidence.

      Liked by 1 person

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