Pycnodysostosis!! This is of course not definitive, but it is in the doctors words, "what we are going with." He fits much of the symptomology, although it does not account for the sclerodermoid skin changes. I haven't found a lot of information on this disorder as it is so rare. My understanding is that it is a connective tissue disorder that is non-progressive and of course it results in extremely short stature. It's a lot to think about. Yesterday I was ecstatic and today it seems overwhelming. In a letter from the lead doctor from the Skeletal Dysplasia Research Center (a renowned author in his feild) he thanked Dr. Zackai for sharing "this very interesting case." I can't believe my son is an "interesting case."
Our trip to CHOP was good. They were much kinder to us, asking us alot of questions about Nathan and what we have noticed. Dr. Zackai really fussed over him and was much more personable. Nathan was sooooo cooperative, turning from side to side when they asked and all without shedding a tear.
I mentioned that we don't notice any changes in his skin because we see him every day and at home he is just a kid. Dr. Zackai stopped me and said "he's a kid to us too. I moved him over the kid category." So it seems our feelings that they were treating him like a medical case study was not far off. The other thing that bugged me is that they gave us a letter detailing all of his abnormalities. It was from the Skeletal Dysplasia Research Center in CA. The letter was dated June 11, 2007. It would have been nice if they had called us just to check in and say, hey-we did hear back from ..... They know we are waiting for any kind of information!
anyway, i shouldn't complain. all in all a successful day! He keeps surprising them in positive ways and hopefully he will continue to do so!
10.23.2007
10.19.2007
20 POUNDS!!!
Nathan weighs 20 pounds 5 ounces!!! Yayyy!! I cannot believe it! It's all in his belly! Monday is his appointment at CHOP on Monday. He got his hair cut VERY short on Wednesday, kind of accentuates his "special needs" appearance. Today is picture day at school.
Endocronologist appointment is scheduled for January 2008. Hopefully on Monday we can have the genetics dept bump that up.
Endocronologist appointment is scheduled for January 2008. Hopefully on Monday we can have the genetics dept bump that up.
10.10.2007
Slow & Steady!
If slow and steady wins the race, then Nathan is in good shape to win! Mark weighed him tonight-19 pounds, 12 ounces! (At least that is what Mark told me. I didn't see for myself.) That's nine ounces up from 9/21/07! Maybe we will have a party when he finally reaches 20 pounds! Hopefully in the next month!
10.09.2007
Two year old
Well-Nathan has begun acting like a two year old. Yesterday he threw himself on the floor at Target in the area between the two sets of doors, because I wouldn't let him carry a bag that was too big for him to carry. Apparently he is not heavy enough to keep the automatic doors open and they started closing on him-of course I panicked and screamed at scooped him up. I was not prepared for behavioral problems with him!
We are seeing the dermatologist and geneticist on the 22nd. This is our third scheduled appointment. Dr. Yan canceled the previous two, so hopefully they will keep this one. Nathan has a speech consult on Thursday to determine if he needs speech therapy. The school mentioned that he seems to be delayed in that area. I was glad they told me they noticed because they have the ability to compare him to other children his age and younger.
We are trying to schedule with an endocronologist. Every doctor we see advises us to schedule a "follow-up in six months" meaning we should be scheduling appts with Cardiology, Orthopedics, Eye Doctor, ENT-I think that is it. But we do not have them scheduled. Sometimes I feel guilty, like we are slacker parents. With all the at home appts, it is hard to keep up, plus nothing is ever accomplished at appointments. We do have follow-ups scheduled with the dentist and neurologist and cardiology is a priority. I know there are parents out there who would have a diagnosis by now because they would be more proactive and assertive than us, but this is how we are dealing with the situation and I need to be okay with that. I can only handle so many appointments for myself, Nathan and Libby.
We are seeing the dermatologist and geneticist on the 22nd. This is our third scheduled appointment. Dr. Yan canceled the previous two, so hopefully they will keep this one. Nathan has a speech consult on Thursday to determine if he needs speech therapy. The school mentioned that he seems to be delayed in that area. I was glad they told me they noticed because they have the ability to compare him to other children his age and younger.
We are trying to schedule with an endocronologist. Every doctor we see advises us to schedule a "follow-up in six months" meaning we should be scheduling appts with Cardiology, Orthopedics, Eye Doctor, ENT-I think that is it. But we do not have them scheduled. Sometimes I feel guilty, like we are slacker parents. With all the at home appts, it is hard to keep up, plus nothing is ever accomplished at appointments. We do have follow-ups scheduled with the dentist and neurologist and cardiology is a priority. I know there are parents out there who would have a diagnosis by now because they would be more proactive and assertive than us, but this is how we are dealing with the situation and I need to be okay with that. I can only handle so many appointments for myself, Nathan and Libby.
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