We've had another busy week at the Gurry house. Summer is winding down and Lauren starts kindergarten next week - we can't believe it! We've had lots of orientation stuff this week and Lauren is a little excited and a lot apprehensive. She'll love it once she gets going. Unfortunately the weather didn't cooperate this week for a last week of summer - lots of gray and cool temperatures, but we enjoyed it anyway.
We've had a big week with Taylor - we're so proud of her! We've reached our first major milestone - Taylor is rolling! She has rolled from back to tummy many times and we've seen her in her crib sleeping on her stomach for the first time. She enjoys rolling from side to side and there have been a few times where I've had to hold her still to change her diaper - a wiggly baby has frustrated many a parent, but we're thrilled to see her moving!
She had her typical busy therapy schedule this week and we're making progress! Now that her muscles are somewhat loosened, we've started working on our first functional skill - sitting. We can't wait for Taylor to be able to sit on her own and be able to play with toys. She is so ready to have fun independently. Her practice mainly entails getting her hands used to feeling pressure and training them to catch her if she tips over. Because her fists were clenched and arms bent, she has to realize that her hands/arms can be useful/fun for her. So, she sits with support and we tilt her from side to side, forcing her hands to catch her and feel pressure. Because they haven't been used this way, she's getting used to the sensation and particularly does not like her left hand receiving pressure. But, this is the only way she will be able to sit safely or catch herself if she falls. It is a little scary that she doesn't have any protective reflexes right now (if she tipped over, she'd land on her head or face). In general, she's tolerating her therapy so much better and doesn't cry much at all now - hallelujah. It's much better for all of us. We're trying a variety of ways to help her learn that her hands can be fun - Susan encouraged me to paint her fingernails to draw her attention to her hands, so now they're a lovely hot pink. Lauren helped with Taylor's "extreme makeover" and added stick-on earrings. Taylor loved it.
The next thing we'll work with her on is standing. Susan has explained that crawling is a pretty useless skill, so we're moving on to standing and eventually walking. This is fine with us - one of our most pressing goals is to get Taylor walking in the next year. Some have asked why we feel such a sense of urgency - here's why - Susan shared with us that only 5% of kids that aren't sitting alone by age 2 ever walk. Ever? I asked. Yes, ever. So, we're on a mission to get these brain pathways developed while she's young and give her every best shot. We're feeling really encouraged this week. Taylor's new orthotics are ready now too and we're hoping to get her fitted for them next week. So, on to standing.
The other huge gift we've had over the last weeks are really positive signs of Taylor's cognitive potential. We can tell that Taylor really understands what we're saying to her lots of times. Along with Susan, we're working on encouraging her to nod her head for "yes" and shake her head for "no". She has done this numerous times in response to questions, which is great. We don't know how long it will take her to speak, so we're also working on "eye-pointing" - which is teaching Taylor to show us what she wants by looking at an item. We'll look at books and say "Where's the dog?" or "Where's the duck?" and we've taught her several words. Over time, as her brain pathways connect she'll have a full vocabulary once she can speak. We are seeing a speech therapist on 9/11 and we're looking forward to seeing how early we can start working on this with her. The best news - her brain has shown aptitude for learning quickly - a huge, huge blessing.
Tuesday was another busy day for us. We started the day at Children's Hospital - 3 fun-filled hours. I can honestly say I dislike going there, even though they do miraculous things, it is far from a joyful place for us. There are so many kids in bad shape and I marvel at the heroic people that work there everyday. I try to count my blessings, but it usually leaves me feeling a little sad. Anyway, Taylor saw a new department to add to our roster - genetics. I had mixed feelings about this meeting, because I wasn't sure what we would learn. Dr. Cowan from neuro-development had encouraged us to go because her brain condition can be linked to many syndromes and genetics testing can help rule it out. The other, more controversial, reason is to determine if there was genetic link to Taylor's condition (i.e could Taylor, or other family members, need to consider the genetic possibility of a recurrence). The first one is easiest to write about.
Dr. Bamshack (the geneticist) and a team of genetic counselors examined Taylor and explained to us that there is always a cause for Taylor's condition (the missing corpus callosum). This is where science and faith get a little hard for me to reconcile. Through genetics testing, they can seek to learn the cause of her missing corpus callosum (a marker of a condition, rather than the cause) and if there are linkages to other broader syndromes (we certainly hope not, but good to rule out if we can). If she is diagnosed with a broader syndrome, we might be able to learn earlier ways we can help her. Thankfully, Dr. Bamshack said that because Taylor appears "normal", that rules out a whole host of possible syndromes, which can be detected by experts just by looking at a baby. He said that the genetic testing only turns up definitive guidance about 5% of the time - so hopefully it's "just" a missing part of her brain and the cause is a mystery.
It was really interesting seeing how specific they can look at the various chromosomes. This part baffled me. We had a CVS test on Taylor when she was 12 weeks pre-natally due to a worrisome ultrasound. It was incredibly stressful and we were so relieved when the results came back normal - ruling out any chromosomal issues, so we were told. As we've learned now, the CVS test is basically a high-level overview (like the blurry lines of an eye chart) which looks at major chromosome counting (i.e. one extra chromosome can mean Down's Syndrome). Even with "normal" results, there are shades of gray and the genetics testing is much more specific (like the bold E on the eye chart), so they can see various levels of all of the chromosomes (even with normal CVS results, as we're learning, there can still be some chromosomal screwiness). This was a little disheartening to learn - I think the radiologists need to be more specific about the accuracy of these pre-natal tests, but that's another topic. (side note - for those expecting or future parents, please know that Taylor's condition is very rare and definitely falls in the "don't worry" category).
The second item - possible genetic link - makes my head spin. Of course, we hope her condition is a "fluke" and there isn't a genetic link. All we can do is learn as much as we can and hope it will be helpful someday. To run the tests, they took more blood from Taylor (sigh) and we should know the results in 4 weeks. Depending on what they find, they may need to run more tests.
On to good news, that night we had another birthday celebration for Taylor with David's family. She loved watching cousins Griffin, Rory and Graham dance around with Lauren and Jacob. She received more fun toys, her own CD player for her room and cute clothes. The cake wasn't a hit again, but all-in-all, we're so happy for our 1 year-old girl! We can't believe she's already one and we see her working so hard. We really believe this is going to be an amazing year for our family and we're all going to be amazed at what she can do on her next birthday.
We've had a big week with Taylor - we're so proud of her! We've reached our first major milestone - Taylor is rolling! She has rolled from back to tummy many times and we've seen her in her crib sleeping on her stomach for the first time. She enjoys rolling from side to side and there have been a few times where I've had to hold her still to change her diaper - a wiggly baby has frustrated many a parent, but we're thrilled to see her moving!
She had her typical busy therapy schedule this week and we're making progress! Now that her muscles are somewhat loosened, we've started working on our first functional skill - sitting. We can't wait for Taylor to be able to sit on her own and be able to play with toys. She is so ready to have fun independently. Her practice mainly entails getting her hands used to feeling pressure and training them to catch her if she tips over. Because her fists were clenched and arms bent, she has to realize that her hands/arms can be useful/fun for her. So, she sits with support and we tilt her from side to side, forcing her hands to catch her and feel pressure. Because they haven't been used this way, she's getting used to the sensation and particularly does not like her left hand receiving pressure. But, this is the only way she will be able to sit safely or catch herself if she falls. It is a little scary that she doesn't have any protective reflexes right now (if she tipped over, she'd land on her head or face). In general, she's tolerating her therapy so much better and doesn't cry much at all now - hallelujah. It's much better for all of us. We're trying a variety of ways to help her learn that her hands can be fun - Susan encouraged me to paint her fingernails to draw her attention to her hands, so now they're a lovely hot pink. Lauren helped with Taylor's "extreme makeover" and added stick-on earrings. Taylor loved it.
The next thing we'll work with her on is standing. Susan has explained that crawling is a pretty useless skill, so we're moving on to standing and eventually walking. This is fine with us - one of our most pressing goals is to get Taylor walking in the next year. Some have asked why we feel such a sense of urgency - here's why - Susan shared with us that only 5% of kids that aren't sitting alone by age 2 ever walk. Ever? I asked. Yes, ever. So, we're on a mission to get these brain pathways developed while she's young and give her every best shot. We're feeling really encouraged this week. Taylor's new orthotics are ready now too and we're hoping to get her fitted for them next week. So, on to standing.
The other huge gift we've had over the last weeks are really positive signs of Taylor's cognitive potential. We can tell that Taylor really understands what we're saying to her lots of times. Along with Susan, we're working on encouraging her to nod her head for "yes" and shake her head for "no". She has done this numerous times in response to questions, which is great. We don't know how long it will take her to speak, so we're also working on "eye-pointing" - which is teaching Taylor to show us what she wants by looking at an item. We'll look at books and say "Where's the dog?" or "Where's the duck?" and we've taught her several words. Over time, as her brain pathways connect she'll have a full vocabulary once she can speak. We are seeing a speech therapist on 9/11 and we're looking forward to seeing how early we can start working on this with her. The best news - her brain has shown aptitude for learning quickly - a huge, huge blessing.
Tuesday was another busy day for us. We started the day at Children's Hospital - 3 fun-filled hours. I can honestly say I dislike going there, even though they do miraculous things, it is far from a joyful place for us. There are so many kids in bad shape and I marvel at the heroic people that work there everyday. I try to count my blessings, but it usually leaves me feeling a little sad. Anyway, Taylor saw a new department to add to our roster - genetics. I had mixed feelings about this meeting, because I wasn't sure what we would learn. Dr. Cowan from neuro-development had encouraged us to go because her brain condition can be linked to many syndromes and genetics testing can help rule it out. The other, more controversial, reason is to determine if there was genetic link to Taylor's condition (i.e could Taylor, or other family members, need to consider the genetic possibility of a recurrence). The first one is easiest to write about.
Dr. Bamshack (the geneticist) and a team of genetic counselors examined Taylor and explained to us that there is always a cause for Taylor's condition (the missing corpus callosum). This is where science and faith get a little hard for me to reconcile. Through genetics testing, they can seek to learn the cause of her missing corpus callosum (a marker of a condition, rather than the cause) and if there are linkages to other broader syndromes (we certainly hope not, but good to rule out if we can). If she is diagnosed with a broader syndrome, we might be able to learn earlier ways we can help her. Thankfully, Dr. Bamshack said that because Taylor appears "normal", that rules out a whole host of possible syndromes, which can be detected by experts just by looking at a baby. He said that the genetic testing only turns up definitive guidance about 5% of the time - so hopefully it's "just" a missing part of her brain and the cause is a mystery.
It was really interesting seeing how specific they can look at the various chromosomes. This part baffled me. We had a CVS test on Taylor when she was 12 weeks pre-natally due to a worrisome ultrasound. It was incredibly stressful and we were so relieved when the results came back normal - ruling out any chromosomal issues, so we were told. As we've learned now, the CVS test is basically a high-level overview (like the blurry lines of an eye chart) which looks at major chromosome counting (i.e. one extra chromosome can mean Down's Syndrome). Even with "normal" results, there are shades of gray and the genetics testing is much more specific (like the bold E on the eye chart), so they can see various levels of all of the chromosomes (even with normal CVS results, as we're learning, there can still be some chromosomal screwiness). This was a little disheartening to learn - I think the radiologists need to be more specific about the accuracy of these pre-natal tests, but that's another topic. (side note - for those expecting or future parents, please know that Taylor's condition is very rare and definitely falls in the "don't worry" category).
The second item - possible genetic link - makes my head spin. Of course, we hope her condition is a "fluke" and there isn't a genetic link. All we can do is learn as much as we can and hope it will be helpful someday. To run the tests, they took more blood from Taylor (sigh) and we should know the results in 4 weeks. Depending on what they find, they may need to run more tests.
On to good news, that night we had another birthday celebration for Taylor with David's family. She loved watching cousins Griffin, Rory and Graham dance around with Lauren and Jacob. She received more fun toys, her own CD player for her room and cute clothes. The cake wasn't a hit again, but all-in-all, we're so happy for our 1 year-old girl! We can't believe she's already one and we see her working so hard. We really believe this is going to be an amazing year for our family and we're all going to be amazed at what she can do on her next birthday.
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