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She Grew! (And a diagnosis)

07/13/2015

Belle

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!

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20 Comments

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  1. July 13, 2015

    Great news!! Here’s to being on the charts!

  2. July 13, 2015

    An old friend of mine has a daughter who has RSS. She is also a pediatric nurse if you would like to connect with another mom, her daughter is fantastic. She is very active with the MAGIC foundation. You may already know this but the countries leading expert for physicians is in NYC. Please in box me if you would like any contacts.

  3. jaclyn #
    July 13, 2015

    To go from off the charts in terms of weight to 9.3% is amazing! Is she eating more food in general at home, or more types of food? How good is your insurance? A diagnosis might help you if you want a professional or hospital to supervise a food trial to see if she can tolerate more types of food depending upon your insurance. You might want to discuss this with your doctor, but at any rate I am so thrilled to learn about her progress!

  4. July 13, 2015

    Best news!!! Go little bean!

  5. July 13, 2015

    Go Beanie!! This is excellent news and Tbh, when you wrote about all this syndrome and stuff, i actually googled it because I had no clue what they were. You three have been through a lot and most of this sounds horribly scary. Am glad its coming to an end and everything is good!

  6. July 13, 2015

    Yay! I’m so happy for you all!

  7. Nam #
    July 13, 2015

    Yay I’m so glad for you 😀 Sabine beats my son in weight percentile 👏 he is the same age…

  8. jesicabrennan #
    July 14, 2015

    Yay! What good news! Way to grow little Bean!

  9. July 14, 2015

    Yay! She’s on a chart! And I’m so glad the PT is helping. Can’t wait to see you all soon!

  10. July 14, 2015

    Woohoo!!! So glad she is doing just great and is just a mini girl. I looked back and Rowan was 32″ and 23 lbs at two. She is definitely one of the smaller ones, but I don’t think it has affected her at all. And makes packing them around a lot easier :). Yay Sabine!!

  11. July 14, 2015

    This is amazing! She always appears to be such a delightful, smart, warm spirit. So glad her body is making some progress. You are being an awesome mom!

  12. July 14, 2015

    Great news! Years ago, my friend’s sister when through something similar. The final “diagnosis” was simply that her daughter is petite. People come in all shapes and sizes, and this goes for kids, too.

  13. nonsequiturchica #
    July 14, 2015

    Awesome news all around!

  14. July 14, 2015

    What a great update! It sounds like Sabine is doing just great!

    • Saskia #
      July 15, 2015

      Yay! This absolutely makes my day.

  15. July 15, 2015

    Aw yes!!!! What a relief to be on at least one of the charts. My little one has the opposite problem in being off the chart huge for one of them (head circumference) so I understand how stressful the worrying about the changes can be.
    Sabine is 100% adorable and perfect which is think is the most important chart of all.

  16. July 15, 2015

    Fantastic!! She’s weighs basically the same as Dylan now (2.5 years). The visit must have been a huge relief!

  17. July 15, 2015

    WOO HOO!!

  18. July 20, 2015

    Fantastic news! I hope the trend continues!

  19. jak #
    July 23, 2015

    GROW BEAN GROW!~!! that’s great news! also from this video and the last, i think she’s right on for language. there are definitely normal kids that aren’t this advanced. great job mama!!

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