Monday, May 2, 2011

Genetics Update

Bean had his first genetics follow up today following his Williams syndrome diagnosis. The appointment was scheduled for 9:30. Unfortunately, Bean likes to sleep in most days until 9:00 or after. He struggles to sleep all night long and eventually crashes hard around six in the morning. We needed to leave the house by 8:15 to allow for rush hour and Monday morning registration at Children's so we had to wake him early. He handled it pretty well and was in a reasonably good mood.

Then, when we got to the hospital, we waited until almost 11 to be paged in to an exam room. This has never happened to us before. Usually, they start paging us within minutes of registration. Genetics is moving their offices in the hospital and they are having space issues. That and his doctor's first appointment apparently ran REALLY long. Baby J kept himself occupied with the various activities, cartoons and videos on his daddy's phone. Bean got irritated very quickly because he was so bored. He didn't want to eat. He didn't want to sit in his stroller. He didn't want to be held. He only wanted to be on the floor and playing. I was the mean mama that said no to that. Hospital floors are disgusting. 

He threw his usual tantrum about getting his weight and height checked. On a side note, he is regaining the weight (1.5 lbs!) that he lost when he was sick! He did pretty well through the appointment, alternating between happy, interactive Bean and tired fussy baby. 

The geneticist is supportive of us taking him to a WS clinic. She is also encouraging Husband and I to be tested to make sure, although it is next to impossible, that we don't have a chromosome 7 deletion, inversion or duplication. We plan to pursue the test and are just waiting on insurance approval. The doctor agreed that we should go to an ENT rather than an audiologist. We will also be adding two additional specialists to Bean's medical team. She is sending us to an endocrinologist for his borderline calcium levels and a childhood developmental specialist. The developmental specialist will keep track of his progress and help us ensure that we are getting all the supports that he needs. S/he will also help us determine what his needs will be for school and support us through the IEP process when it's time.

Even though we had to wait a long time, it was a worthwhile appointment. Bean was exhausted and fell asleep in the car on the way home and both kids ended up taking a nice long nap this afternoon. He is in a much better mood this evening and doesn't want to stop playing for his bath.

6 comments:

  1. Glad the appointment went well, if not a little late... We love our geneticist appointments. I feel comfortable that someone else knows what to look for and when, and can get your foot in the door with specialists, etc.

    And hospital floors (and all other surfaces) are *totally* disgusting...

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  2. Hooray for productive appointments and kids who take long naps!

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  3. I am glad that your appointments went well. It's so challenging taking little ones to appointments and waiting.

    By the way -- I found you blog via blogher -- and was drawn because you mentioned gluten and celiac. I have a little guy - Samuel - who was recently diagnosed with Celiac Disease.

    Blessings to you.

    Rachel

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  4. Becca,

    Our geneticist (and especially our genetics counselor) are awesome! We are also working with a doctor in the diagnostic referral group at our Children's hospital. I can't speak highly enough of the program - essentially, they manage care for medically complex kiddos.

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  5. Rachel,

    It's nice to "meet" you! Poor Samuel, the diet will get easier with time. Bean and I have been gluten free essentially since his birth 20-months ago. Fortunately, though, he does not have Celiac's, rather an intolerance that we hope he will grow out of eventually.

    He has some serious oral aversions so we are just starting finger foods and I'm really challenged right now trying to find options that are free of gluten AND all of the top 8. Yikes!!!

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