Today Nick and I had our genetic consultation. Unfortunately we didn't really learn anything new. I've done a lot of research and have read most, if not all, of the info that Baylor College of Medicine has available, so we already knew most of what they had to share. They did show us a diagrams of what Blake's 17th chromosome looks like compared to a "normal" chromosome, so it was nice to have a picture in our minds of what exactly occurred.

We didn't have time to do our blood draws today so we'll have to do that some time soon. Genetics doesn't anticipate anything unusual showing up, though. Since both of us are "normal" it is more likely that this was just a random event, and if that's the case our kids/siblings won't have any higher chance of having a PTLS child than the general population.

They weren't as encouraging of going to Texas Children's as I thought they would be. They weren't against it, but they just felt that the cost of going may outweigh the benefits. Of course us getting to meet with experts of this condition would be a HUGE benefit, but we could have all the necessary testing done here. Plus it would be an extremely intense week for both Blake and me. They would be squeezing months of tests in to one week and I am sure that would be stressful and upsetting to him. But it may be better for him in the long run.

August 20 is the echocardiogram/EKG to check the structure and function of his heart. Please keep praying that everything turns out okay. I am pretty sure we will be able to get the results the same day, so we should know right away how the tests come back. His dr. did say at his last check up that he has a Stills murmur (sp?) but that it is pretty common (occurring in about 30% of perfectly healthy kids) and is nothing to worry about & not related to his condition at all. So I am praying everything checks out.

Otherwise he is doing absolutely wonderful! His chew/swallow has improved drastically in the past month or so. He is eating things I never would have tried 2 months ago; Gerber diced fruits and veggies, pancakes, bananas, cheese, crackers, and the other night he actually had ravioli for dinner! Not baby ravioli or pureed ravioli, but real ravioli mashed up with a fork. It is amazing how much better he has gotten in that area.

He is "talking" all the time. Not real words, of course, but he will make a variety of sounds in different pitches. It is very clear that he is imitating conversation which makes me think he is that much closer to talking. He has learned the sign for cracker, and the other day I asked him what he wanted and he signed "cracker" and "more". Yes, it was in the wrong order, but he put two signs together which shows huge progress in his understanding of baby sign language.

He does have some issues with his toes/ankles turning in when he walks, so PT has suggested we get him fitted for orthotics called UCBLs. These are braces that will fit in his shoes and are supposedly very comfortable. We're not sure yet if he will have to wear them short-term or long-term, but they will be very discreet so if he does need them when he's older hopefully it won't be a big deal to him.

Lastly, I have been lucky enough to make contact with a few other PTLS families. One of them is Julie and her son Christian, who is almost 21 and one of the oldest people known to have PTLS. She has been a great source of encouragement and support. Another is Amy, whose daughter Chloe is about 3 1/2. They have gone to TCH for the study and have a blog about their experience there. Words can not express how thankful I am to have found other families with this diagnosis.