Sabine had her two-year appointment today. I’ve started to dread these appointments because I’m always CERTAIN she grew and then learn that no, she really didn’t grow. I swear she looks and feels bigger and that her clothes are smaller but no, her clothes are just shrinking from the insanely hot gas driers in our building.
BUT today was different. Today Sabine actually grew and her doctor was THRILLED! At her 18 month checkup Sabine was 28.5 inches tall (off the charts small) and 17.3 pounds (off the charts light). Today she was 30.3 inches tall (still off the charts small but she grew) and an amazing 23.3 pounds which is the 9th percentile!
SHE IS ON THE CHART FOR WEIGHT! AND IS STILL THE PICKIEST EATER EVER!
The doctor was seriously thrilled and suspects Sabine will gain more height in the coming months with all that weight gain. Everything else checked out great. Sabine passed her eye test with flying colors, which I could have told them based on how she can spot a box of Trader Joe’s Golden Round crackers from about a mile away, and everything else looked and sounded good. Her cognitive and speech development is right on track and she is catching up with gross motor thanks to all the physical therapy this summer.
This is a good time to update on all the genetic studies, too. I’d been waiting to update until we meet with the geneticist in September but based on her recent growth, I’m pretty sure she is in the clear.
The tests were looking for a mosaic of Trisomy 15 and the three potential markers for Russell Silver Syndrome, a rare form of genetic dwarfism. The Trisomy 15 was negative, which rules this syndrome out completely. The Russell Silver Syndrome tests were also negative, however, do not rule the syndrome out. Up to 40% of RSS cases are undetectable with current technology, meaning just because the tests are negative does not mean she does not have the syndrome.
We’ll chat with the geneticist about his impression in September and determine if we want to give her the label based on her physical markers alone. At this point I don’t care either way. If she has RSS it means that she will always be tiny and thin. If she does not have RSS she will likely still always be tiny and thin based on her growth so far. So… what difference does it make? Having the diagnosis does make it easier for her to receive services should she need more in the future, and it gives me a nice response when people are rude about her size. Otherwise, it means very little.
All of this rambling to say that Sabine’s diagnosis is nothing more than “short.” We are tremendously relieved and are looking forward to returning to life as normal with our “Fun Sized” kiddo!