Tuesday, 15 January 2013
Ikea and Pediatrician
We had big plans today: go to Ikea for breakfast, buy some shelves, come home and rearrange the office are. Then go to Little C's pediatrician appointment. Well, we went to Ikea, and got home with just enough time to eat lunch and get to the pediatrician. We were referred to the pediatrician because Little C's pectus excavatum (sunken chest). That's about as far as we got.
It turns out that hubby (and his mom, and her father) have Ehlers-Danlos Syndrome, and that it looks like Little C does too. We have to go back in April for a follow up. We will also be going for X-Rasy and an EKG (to make sure there are no issues with the lungs and heart as a result of the pectus exccavatum). We will also see a plastic surgeon to determine whether or not any bracing is needed before surgery. Yep, surgery. It looks like Little C will need surgery in about 4-5 years to have it corrected. Depending on the X-Rays, he could need it sooner (if the lungs and/or heart are affected). So not the news we were hoping to hear. However, it could have been worse. This doesn't affect life span or intelligence. Unless it is compressing his lungs, it is mostly a cosmetic issue and is easily corrected (though the idea of my little boy having surgery does not seem easy). Sigh. He is healthy and happy. It could be so much worse.
We don't know yet how else the syndrome will manifest itself. It could result in pain, delayed motor skill development, clumsiness requiring assistance at school etc. Or there could be no other issues and this is it. But because he is only 7 months old, there is no way to predict how else it might affect him. However, other than the sunken chest, there are no other issues or 'red flags' - in fact we wouldn't know about this syndrome if we hadn't raised concerns about the sunken chest at his well visits with our family doctor. So, I am going to assume that all is good. SO far he shows no signs of gross motor skill delay, or muscle weakness/poor muscle tone, or any other symptoms. Hubby and his mom (and her Dad) all have mild cases, with only some of the symptoms). There are different types, so we will also be seeing a genetic counsellor to determine which type, and therefore what kind of treatment/surgery he will need in the future. Sigh.
Thanks for listening, internet peeps!
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