Good morning this is Dr. Mendelsohn's nurse and I am calling to inform you that their is now a simple blood test to determine conclusively that your child has Kabuki syndrome.
Okay... I guess then it is a good morning...
We will schedule an appointment, and we look forward to seeing you!
Well this was the conversation a few weeks ago and then this past week I pulled Maggie from ABA and we headed to Children's hospital to see her wonderful geneticist.
Why do I like this doctor so much? So glad your curious...
- I like that going with seeing us after a year or even 2 she remembers details about Maggie, and even myself.
- I like that she doesn't talk down to me or explain it to me with the assumption I'm an idiot - yes I have had several specialists do that
- I like that she is positive, in the sense that she understands the daily issues but focuses on the milestones and developments that have occurred!
- I like that she has a sense of humor, not all doctors do.
- I like that she gives me practical suggestions and not just a brochure or website to go to.
Overall it was a positive appointment. We were able to combine blood work with her upcoming dental work and heart echo (which are under anesthesia) - The one thing that was brought up and no surprise to me, it's not like I don't try!
Her weight!
She is just a skinny mini, doesn't eat a lot, can be picky, limited diet, very active and burns off everything she consumes... BUT we talked about healthy but fatty foods to add her diet. Most kids I know, parents have to start sneaking in vegetables or fruit and at a certain age start to control their intake so they are a healthy weight. But not my kiddo!
She is just too much of a supermodel - She needs to put some meat on her bones :)
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