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Well we had Sarah's Genetic Counseling Apt on Monday, September 29 at The Cleveland Clinic. It went well.

She says that Sarah's tone is definitely not noticeable until she gets excited but that could just be her reaction. She did notice a little shaking when Sarah was mad though. She laid her on the table to get a length and I think Sarah was just upset but she said it didn't look right. She measured her ears, and her head circumfrance.

Good news is that she's grown a couple inches in a month and her head is definitely larger too. She's actually getting back up in the chart for length now but her head and weight still are lower. All in All though in proportion.

We also found out that the chromosome that is damaged has no known awful problems. It's one of the genes that is there but doesn't have any significant function so that means there's no problems associated or they would have figured it out by now. It could possibly cause some eye abnormalties which she said Sarah's thing that was suspected of a cataract which wasn't could be something related. She also said that it could cause dry skin. When Sarah was first introduced to milk she got a little dry skin under her arm and the Dr said it was keratosis. Well I now think it was actuall Icythiosis (sp?) which is related to the genetic mutation she has.

I asked her if that would be considered Turners and she said absolutely not. There's not enough missing of her gene to be that. So we have just a tiny peanut on our hands that is starting to take steps on her own if she's motivated enough.

Downside is that we have to go back next week. Out of all the Dr's Sarah has seen it took the Genetic Specialist to hear a heart murmur which really causes concern as to the care she's getting here in the area. She's seen the Pulmonary Dr and they didn't even mention it. Her pediatrician that was bound determined to find something wrong with her didn't even notice it. Or she did and didn't mention it to us. But I bet she didn't notice it since she would have defnintely done more testing on that. So we go back next Tuesday for an Echocardiogram to make sure it's just a flow murmur which she figures it is since Sarah has no symptoms of a heart problem.

They also suggested I get tested since it's genetically inherited and if it came from DF he would have to have the dry skin and he doesn't. Most likely that I do have the mutation but my other X makes up for the problem one. I remember my mom having really dry skin when I was growing up too. She said she could order the lab and that sometimes they don't charge but they put right in there that there is a charge associated with it this time. She said it runs $600. I told her if I had that extra $$ laying around I would do it in no time but since my insurance won't touch their stuff there's no way. I will have to fill out their medical assistance paperwork and see what they can help with in order to do that.

So all in all it was a good appointment but I am not looking forward to the 2 hour drive again next Tuesday. Sarah's not doing too good at sleeping in the car and that makes for a long drive. I stay in back with her to keep her occupied and Df drives.

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