Monday, November 18, 2013

Henry Is a Little Person

Henry has been officially diagnosed with Russell-Silver Syndrome, which is a form of dwarfism that affects pre- and post-gestational growth and is associated with feeding disorders, speech delay, constipation, short stature and more. We've already been getting help with the feeding problems through prescriptions and OT, and on Wednesday Henry will start his speech therapy through First Steps. So we're already doing everything we need to do for him at this point, and we'll continue to follow up with specialists.

It is GREAT to finally have a definitive diagnosis and know what we're dealing with. I feel like a weight has been lifted off of me!

And I think it's funny that Matt and I prefer short people and now we have a very little person in our family. :)

Life, you crack me up!

Related posts:
May and Henry Go Trick-or-Treating
May and Henry Have Fun with Glasses!
I Just Wanna Show Off Cute Henry Pictures


rae_evans said...

May, I saw someone refer to RSS as "cute baby syndrome" and thought how absolutely appropriate it is in regards to Henry. Not only is he an absolutely adorable child, he seems to take these challenges in stride. My hope for his life is that he always faces the world with that same attitude. Small but mighty, Henry will take this world by storm. Oh, the places he will go...

Amber Leigh said...

I have a son who is 13months weighing 16lbs 9oz and is 27inches ...
The doctors are thinking he may have russel silver syndrome.
I saw a endo but they told me I had to see gastro first... he said its possible that he has russel silver syndrome but he doesn't think he does... and so now I am waiting to see the endo which isn't till august! All my family are telling me that he probably doesnt have it and not to worry ... so I kinda feel alone in this...

How do they test for russel silver syndrome? And how long does it take to get the results?

May said...

Thanks, Rae :)

Amber, they can do a DNA test for you for Russell-Silvers, but only 70% of RSS cases have the genetic marker. So even if the test is negative, which for Henry it wasn't, there's a chance that the child sill has RSS. At that point, it's a clinical diagnosis that a geneticist makes. My endo wanted us to wait until Henry was 2 to test him, but I wasn't comfortable with waiting so I told them to go ahead with the test. It took about a week or so to get the result, I believe.

May said...

Oh, and I should've mentioned that endo tested him for diabetes, celiac's disease, liver problems and something else that I can't remember before she tested his DNA. They'd drawn his blood at that time to keep on hold for the RSS test, so they sent it when I called back up and told her we wanted to go ahead with it. (She'd talked me out of it in her office).

The geneticist ordered more tests after the RSS test came up positive. A liver sonogram, hearing and eye tests, and she wants him to be tested for other syndromes (just to make sure he doesn't have any) the next time he has labs drawn for something else.