We went today to have Blake fitted for orthotics. The dr feels that the UCBL' s (which are the braces that would be concealed in his shoes) won't give his bones enough support, so we are going to go with SMO's which are ankle height.
When they first told me he would have to lay on his tummy for 20 minutes while they put casts on his feet I didn't think it would go well. He is very active and I was doubtful he would stay still, but he did surprisingly well! I came prepared with cars, books, graham crackers and bubbles, and in addition to that I blew up a latex glove and made him a balloon.
By the time he really started to get annoyed they were all done and ready to cut the casts off. He was a very big boy!
It will take 2-3 weeks to get them back. I hope he doesn't notice them too much. They are supposedly pretty comfortable so he should get used to them quickly. I'll keep you all updated on how he's doing.
Also, I got a call from another PTLS mom yesterday. She also lives in Michigan, about two hours away. We talked for about an hour and hope to be able to meet someday soon. Her son is 9, and has had serious heart problems, probably one of the most serious of all the kids so far. If I'm remembering correctly he has had 3 heart surgeries and was very close to not surviving on numerous occasions. He is dependent on a pacemaker and at some point will most likely need a transplant. He also has some major issues with impulse control and has to be watched very closely or he will unlock all 3 locks on the door and leave the house or start the car (yes he has done that). I think I may have my hands full with Blakie. Hopefully his behavioral issues will be on the milder side but only time will tell.
Please keep Marc and his mom and all the other families in your thoughts. The more I learn the more I realize that although these kids are very similar, they also have very different and unique challenges. Also keep praying that Blake's heart scan comes back normal. As that comes closer I am getting more and more nervous, but at the same time am anxious to know.
Tuesday, July 29, 2008
Friday, July 25, 2008
I found out some very interesting info yesterday.
I was googling the pediatric cardiologist Blake was referred to, and it turns out he came to Devos Children's Hospital from none other than Texas Children's Hospital-the very same hospital that is doing the research study on Potocki-Lupski syndrome.
Out of all the doctors we could have been referred to, we get (possibly) the only one in this area that may be familiar with this syndrome? He should know exactly what to look for!
That's not just luck or coincidence-that's someone looking out for us. For the first time I feel very calm about this whole heart thing. I feel like everything is going to be okay.
I was googling the pediatric cardiologist Blake was referred to, and it turns out he came to Devos Children's Hospital from none other than Texas Children's Hospital-the very same hospital that is doing the research study on Potocki-Lupski syndrome.
Out of all the doctors we could have been referred to, we get (possibly) the only one in this area that may be familiar with this syndrome? He should know exactly what to look for!
That's not just luck or coincidence-that's someone looking out for us. For the first time I feel very calm about this whole heart thing. I feel like everything is going to be okay.
Tuesday, July 22, 2008
So, I have pretty much accepted the fact that Blake probably won't talk for a while yet. Except for a couple of words here and there, the majority of kids with PTLS don't really start speaking until around 3 or 4 at the earliest. Well, last night he told me he loved me.
Nick was taking him up to bed, and he stopped halfway up the stairs, looked at me, waved and said, " Ah la ou". Seriously? Did that just come out of my little boy's mouth? Granted it wasn't as clear as it would have been if a "typical" kid had said it, but it was clear enough that instantly Nick and I knew what he had just said.
I shouldn't be so surprised because he hears it all the time. We tell him during the day, before his nap, before bed, etc. It just makes sense that he would remember it. But I was shocked. Our mouths dropped open. I told him I loved him too, and then I started to cry.
I know this doesn't mean he will say it all the time. I may not hear it for another 2 years. But he said it yesterday, and that is enough to get me through until I hear it again.
Nick was taking him up to bed, and he stopped halfway up the stairs, looked at me, waved and said, " Ah la ou". Seriously? Did that just come out of my little boy's mouth? Granted it wasn't as clear as it would have been if a "typical" kid had said it, but it was clear enough that instantly Nick and I knew what he had just said.
I shouldn't be so surprised because he hears it all the time. We tell him during the day, before his nap, before bed, etc. It just makes sense that he would remember it. But I was shocked. Our mouths dropped open. I told him I loved him too, and then I started to cry.
I know this doesn't mean he will say it all the time. I may not hear it for another 2 years. But he said it yesterday, and that is enough to get me through until I hear it again.
Monday, July 14, 2008
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.
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.
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