Shriners and Gastro
Maria had a busy day today. She went to Shriners, to the gastroenterologist & nutritionist, and had her usual speech therapy.
At Shriners we finally met the guy who contacted Cathy about the stander after that article. He said he was “spittin’ mad” after reading about her and was glad he was able to help. He told everyone she was the girl from the newspaper.
The doctor said her hips looked better than they did in December. Her only slight concern was how tight Maria’s hip flexors are, which are the muscles that lift the leg. She gave us a simple stretching exercise to help with that. She of course also encouraged as much standing and walking as possible.
The GI and nutritionist didn’t have much to say. The neurodevelopmental specialist had suggested we go to the nutritionist to see if we needed to add anything to her diet. The nutritionist was kind of perplexed why we were there. Maria’s diet is so absurdly good that she couldn’t think of anything to tell us. It was a wasted visit, but we like those. Maria’s weight was over 33 pounds.
It wouldn’t be Maria if we didn’t get a new diagnosis to worry about. The Shriners doctor noted that her beautiful hair, bushy eyebrows, long eyelashes, small hands and feet are all symptomatic of a genetic condition called Cornelia de Lange Syndrome. She mentioned that we might want to get a genetic screening, then dismissed it as unimportant.
For laughs I looked it up, and it’s not really that unimportant. The symptoms fit Maria really well and the complications include heart and kidney problems.
It’s not something we are obsessing about but we’ll mention it the next time we see the pediatrician. A genetic screen wouldn’t hurt.