So, first things first. We picked up Thomas' new orthotics today. Poor baby screams as soon as we walk into that little room. There is just something about it that makes him uneasy. Then we put these strange things on his feet while I hold him down and stretch his little leg out. I listened to the doctor explain them to me over Thomas screaming as I wiped his tears and intermittently would whisper my love into his ear. As soon as we walked out of the room, he told me 'go' and walked to the door. Once we left he told me 'ouch' and 'hurt'. You have no idea how glad I am that he can now tell me when and what hurts, although in this instance I couldn't take it away because it was for his own good. After a while he forgot about them and played as normal. We have to ease into them starting with short periods of time and extending them a little each day. I am really hoping that this will help him have better balance, less falls, and of course provide him a stronger posture to support his back. Anything we can do to keep his back from curving anymore will be a HUGE plus!!
In the middle of today we had a great Occupational therapy session. I just love her!! I am not sure if Thomas was already tired or just liked the new objectives today but he was so attentive and kept giving that sweet little smile while working. When we thought he was showing signs of fatigue, he would pick back up and go some more. I need to apply that to my own physical activity!
Now for the heavy stuff. This gets technical from a non technical person so hold on. We met with our sub-specialists geneticists today. (One day I will spell that word without spell check). The first test we did was a Chromosome MicroArray. It was explained to me that this test looks at the big picture to see if he has all of his chromosomes. Each person is given 32 chromosomes, 16 from mom and 16 from dad. If there are duplicates or deletions then that will cause syndromes, etc. In Thomas' case this came back negative. This is like looking at the United States from space, it looks great from a distance.
Great! But wait, he still has all of these unexplained issues and no real diagnosis.
At this time, the geneticists is going to write her report giving him the dx of Wildervanck Syndrome. I have mentioned this before in a previous post. In case you want a refresher here is all that the Internet has to provide: http://children.webmd.com/wildervanck-syndrome
Seriously, Google it all you want! If you happen to find more information than that, please share it with me because no one else has been able to find anything more. Again, he does not fit into this syndrome perfectly which is why we are still researching, but it it the best fit at this time based on his clinical anomalies. So, at least we have a report now that I can move forward with my attempt for Medicaid.
What's next??? Well, our sub-specialists geneticists suggest that we move forward with a Exome Sequence Study. This is where they will take the list of Thomas' anomalies and dissect his chromosomes in search for answers. This is currently only being offered at two places commercially in the US, the one we would go to is at Baylor University. There is a chance that they would be able to look deeper into the chromosomes and find the cause of his rare genetic disorder. In case you are super interested here is the link to the study: http://www.bcm.edu/geneticlabs/index.cfm?pmid=22059
Some of you who knew more about this might ask the same question I did today. We now know that Klippel Feil Syndrome occurs at GDF 6 on chromosome 8, so can't we do a test to confirm that? The answer is basically 'no'. The doctor believes that there is a bigger issue that caused this rare genetic syndrome in Thomas and KFS may be just one of the results of that. If you do the Exome Sequencing you are looking for the root cause. Some people can have a Klippel Feil deformity (fused vertebrae) without have the syndrome. Again, all of this makes my head spin!!
We are considering moving forward. Why? Its not because we are planning on having more children or because we are worried about Thomas passing it on to his children should he have any. Those are minors issues in my book. The most important reason is to provide Thomas with the best possible healthcare that we can. If we can get this testing done and get him a real diagnosis then we will know more about what issues my progressively get worse in the his life what to continue to monitor look for, avoid and most of all if there ever becomes a treatment available. I would and will continue to do anything I can to help him.
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| John 14:27 “I am leaving you with a gift—peace of mind and heart. And the peace I give is a gift the world cannot give. So don’t be troubled or afraid.
I know my blog is already quite long and exhausting, but I
do want to share one last thing with you before I close. I was
fortunate to got to Girls Night Out with some wonderful friends and
Mandisa was one of the performers. I can tell you her entire CD is just
incredibly awesome. God is using that woman in so many ways!! But
tonight, this song seems fitting. I want to share the song and the
lyrics with you. The most important thing to realize is that you are
not abandoning God when you let yourself fall to your knees and cry for
mercy. The important thing to remember is that you are falling at his
feet, the one who surrounds you will unconditional and undying love.
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