Kathryn continues to do well, and had two appointments this week. The first was physical therapy which, for an infant, is pretty uneventful. The second appointment was Katie's fist time with her pediatrician, which was also supposed to be uneventful. We didn't expect to have any news until we meet with the neurologist in about a month. But we'll get to that.
First, I'll give you Katie Beth's rookie trading card stats. Trade them with your friends and collect the whole set. KB continues to climb the ranks in size, moving from the third percentile in weight to the fourth, which means 96% of the other kids are bigger than she is. So much for my dream of siring a heavy weight boxing champion. She's still eating strongly though, and the way she can chug a bottle you'd think she was preparing for college. Her length puts her in the 13th percentile (long and skinny; sound familiar?), but her noggin' is in 20th percentile, thanks to the ventriculomegaly forcing her skull out a ways in the back. She logged first casualties by pooping yesterday too. I only mention it because so many of you keep asking me if we've been pooped on yet. She got both of us during the newborn photo shoot with Dana Todd, so now you can stop asking me that one. Trading card pictures have been uploaded to this site, but a lot more are available on facebook.
Meanwhile, back at the pediatrician's office…
Dr. Bartos was going down this list of stats, reviewing her muscle tone (weak, but not terrible), her circulatory system ("so-so, don't be surprised when her hands and feet turn blue if she's cold, but don't worry about it when they do"), her very long chain fatty acids (normal), weight (small, "but [Robyn and I] aren't Samoan"), length (small, but fine), head size (good, but a little large compared to her length).
So, did you get that? If you haven't been earning your medical degree from university of wikipedia along with Robyn and I, you might have missed it. Her very long chain fatty acids (VLCFAs) are NORMAL! For the last week or so the only operating theory has been that Kathryn has some kind of storage syndrome. The neonatologist, neurologists, and myriad other specialists have been pretty sure this was the problem. They haven't been testing for anything else, haven't talked about anything else with Robyn and I, and were confident enough that they started talking with us about what that would mean (6mo to 2yrs to live) which we have passed along to you through these updates. Here's why her VLCFAs are important. Typically peroxisomes catabolize VLCFAs to release energy into your system so you can run and jump and play or grow and develop, but syndromes like Zellweger's show an "impared peroxisome function" which results in VLCFAs being accumulated in their blood. But that isn't happening to Kathryn—her VLCFAs are normal, as in not elevated. I asked Dr. Bartos if normal VLCFAs meant what I thought it did and he would only tell me that we won't know anything for sure until we hear back from the Mayo Clinic, but "it's a strong indicator." If her problem isn't a storage syndrome she probably won't have the shortened life expectancy we were previously told to expect, although she may still suffer from "severe mental handicap" or "be perfectly normal." According to the Children's Memorial Hospital, "The long-term outlook for a child born with mild or borderline [10cm – 15cm] ventriculomegaly is excellent if it is an isolated finding. Approximately 90 to 100 percent have a normal outcome, giving the child an outstanding quality of life and a normal life expectancy." Kathryn's is 16cm which is only 1cm on the "severe" side of the line, but it's a full 6cm from "normal." It's beginning to look more and more like an isolated finding though, which gives her a fighting chance I think.
Perhaps the doctors were wrong in their preliminary diagnosis. We won't hear definitively on the genetic testing for another couple of weeks, after all. Maybe she belongs to the minority of cases that don't exhibit these defects. Maybe 100 other things explain this and you can call it whatever you want, but as for me and my house we'll call it a miracle. We've seen too many things that were supposed to happen, or not supposed to happen and can't be explained. When we get confirmation in a few weeks, we'll send another update. In the mean time, keep praying with us.
Originally posted to http://www.carepages.com/carepages/KathrynElizabethSchlichter
First, I'll give you Katie Beth's rookie trading card stats. Trade them with your friends and collect the whole set. KB continues to climb the ranks in size, moving from the third percentile in weight to the fourth, which means 96% of the other kids are bigger than she is. So much for my dream of siring a heavy weight boxing champion. She's still eating strongly though, and the way she can chug a bottle you'd think she was preparing for college. Her length puts her in the 13th percentile (long and skinny; sound familiar?), but her noggin' is in 20th percentile, thanks to the ventriculomegaly forcing her skull out a ways in the back. She logged first casualties by pooping yesterday too. I only mention it because so many of you keep asking me if we've been pooped on yet. She got both of us during the newborn photo shoot with Dana Todd, so now you can stop asking me that one. Trading card pictures have been uploaded to this site, but a lot more are available on facebook.
Meanwhile, back at the pediatrician's office…
Dr. Bartos was going down this list of stats, reviewing her muscle tone (weak, but not terrible), her circulatory system ("so-so, don't be surprised when her hands and feet turn blue if she's cold, but don't worry about it when they do"), her very long chain fatty acids (normal), weight (small, "but [Robyn and I] aren't Samoan"), length (small, but fine), head size (good, but a little large compared to her length).
So, did you get that? If you haven't been earning your medical degree from university of wikipedia along with Robyn and I, you might have missed it. Her very long chain fatty acids (VLCFAs) are NORMAL! For the last week or so the only operating theory has been that Kathryn has some kind of storage syndrome. The neonatologist, neurologists, and myriad other specialists have been pretty sure this was the problem. They haven't been testing for anything else, haven't talked about anything else with Robyn and I, and were confident enough that they started talking with us about what that would mean (6mo to 2yrs to live) which we have passed along to you through these updates. Here's why her VLCFAs are important. Typically peroxisomes catabolize VLCFAs to release energy into your system so you can run and jump and play or grow and develop, but syndromes like Zellweger's show an "impared peroxisome function" which results in VLCFAs being accumulated in their blood. But that isn't happening to Kathryn—her VLCFAs are normal, as in not elevated. I asked Dr. Bartos if normal VLCFAs meant what I thought it did and he would only tell me that we won't know anything for sure until we hear back from the Mayo Clinic, but "it's a strong indicator." If her problem isn't a storage syndrome she probably won't have the shortened life expectancy we were previously told to expect, although she may still suffer from "severe mental handicap" or "be perfectly normal." According to the Children's Memorial Hospital, "The long-term outlook for a child born with mild or borderline [10cm – 15cm] ventriculomegaly is excellent if it is an isolated finding. Approximately 90 to 100 percent have a normal outcome, giving the child an outstanding quality of life and a normal life expectancy." Kathryn's is 16cm which is only 1cm on the "severe" side of the line, but it's a full 6cm from "normal." It's beginning to look more and more like an isolated finding though, which gives her a fighting chance I think.
Perhaps the doctors were wrong in their preliminary diagnosis. We won't hear definitively on the genetic testing for another couple of weeks, after all. Maybe she belongs to the minority of cases that don't exhibit these defects. Maybe 100 other things explain this and you can call it whatever you want, but as for me and my house we'll call it a miracle. We've seen too many things that were supposed to happen, or not supposed to happen and can't be explained. When we get confirmation in a few weeks, we'll send another update. In the mean time, keep praying with us.
Originally posted to http://www.carepages.com/carepages/KathrynElizabethSchlichter
No comments:
Post a Comment