The Third Protector and Our Experience in Philadelphia
November 2007 – The week of Thanksgiving we saw the specialist in Philly and he gave us a better outlook on Tristan. Tristan’s Third Protector is Dr. Fred Kaplan at the Children’s Hospital of Philadelphia (CHOP), and he is probably the world’s foremost expert on the diseases related to osteoma cutis. He specifically studies, however, the more progressive forms of the disease. Our goal our visit was to determine if he thought Tristan would develop the deeper invasion of tissues that are characteristic of these more dramatic forms.
If there were a way to always pick the personality of your physician it would be great, because Dr. Kaplan would probably be a role model for that. His bedside manners were impeccable and you can tell he really cares about his patients. He was really able to put us at ease on a number of questions we had. At the end, he even gave Michael $20 out of his pocket to pay for the valet parking!
It appears all of Tristan’s bone growths are superficial for now, and have not moved into the muscle. Dr. Kaplan feels Tristan is mildly affected with osteoma cutis. It could be because the exact location where the mutation is located in Tristan’s chromosome is very uncommon compared to locations seen in other people. There appears to be only one recorded case that had the same mutation in the world. So, it is not known what the outcome will be for certain, but for now we are thankful it is mild compared to other patients with osteoma cutis and associated diseases. Less bone growths have appeared on his skin since we started him on thyroid medication at 7 months of age. He has grown a little, but we are still working on the underweight issue.
Tristan Gets Glasses
Today, Tristan got glasses because he is very farsighted (+4.0 in both eyes), and we hope this helps him make more of his developmental milestones. He falls behind a little compared to other kids in what he should do developmentally. The good thing is he seems to really like his glasses, and I thank God, because I do not have time to fight him every minute of the day to keep them on. His ophthalmologist predicted he would not have a problem with them despite his young age. He said kids like them because they can actually see better.
Tristan also started physical therapy today. They said his strength is good, but he just needs some additional help. So, now we go to PT 20 minutes a day to get him on track. He also starts occupational therapy on Friday, and then possibly speech therapy at the beginning of the new year. Yes, I know, it is lots of therapy for this poor child.
I should hear back anytime about my genetic blood test results, but all doctors involved in Tristan’s protocol think I am the carrier based on me already being hypothyroid. I am anxious to find out, because it will make us think whether we will have another child.
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