He wanted to see us in person to explain Thomas' condition known as Klippel-Feil Syndrome as the MRI had definitely confirmed. The most important thing is that their are no current complications associated with his condition at this time!!! It was a relaxing appointment from the beginning in the manner in which he explained it all. He started out by stating he had KFS with no harmful issues at this time. Basically, his building blocks are different from anyone else. We have rectangles that make up on vertebrae and he has triangles and wedges and pieces here and there and fused bones to put it in layman terms. Every person with KFS is different so its difficult to compare one case to another. The doctor said by the looks of Thomas he is doing extraordinarily well and sees no reason to do anything at this time. He has the typical tilt and uneven shoulders, etc. but the most important thing is that his spinal cord or his cerebral cord is not compromised at this time. WooHoo!! Added bonus, there was no charge for today's appointment.
Now don't get me wrong, do I like that my son has this, absolutely not. God just made him this way as the doctor said and he is beautiful and he is not hurting and he is not in pain. We will have to watch and monitor him until he is fully developed with frequent x-rays, but I have full confidence in our orthopedic doctor. If he were fully grown and developed right now we would be in the clear. However, since he is built differently we aren't sure how he is going to grow and therefore need to watch him to make sure no complications arise as a result of his syndrome. He did offer the advice that I create an information card to carry with him at all times that had his syndromes listed so that if he were to ever be in an accident, the emergency technicians would be informed quickly that his bone structure is originally different than that of a normal person. I very much liked that idea and will be working on that in the coming week.
So, where are we? Everything he has is congenital and is related someway. Thomas has Duane Syndrome that does effect his eyes movement, but he currently has good vision and is compensating for it, monitored by Pediatric Ophthalmologists. He has Klippel-Feil Syndrome which he has Type III that accounts for cervical, thoracic, and lumbar spine malformations. We are now in monitor mode with our Pediatric Orthopaedic Surgeon. He has had hearing loss which is currently being treated with the placement of tubes, we will go through hearing tests every three months to catch the failure of the tubes as soon as possible. He has hypotonia which we don't have a definite cause except for it is syndrome related and is being treated with physical therapy and will soon be adding some occupation therapy for sensory seeking development. He has speech delay and has been referred for speech therapy. We will be having surgery this year (now that we can get clearance) to check out the possible undeveloped or underdeveloped testicle. We will complete the genetic testing to confirm any diagnosis and ensure we haven't overlooked anything else. We will also move forward with providing information and DNA to Boston for their research.
I think we are in a very good place right now!! I am now very excited about all that 2012 has to hold for the Jolleys!! We will keep in touch with all of our doctors and do monitoring tests as needed. We will provided Thomas with the recommended therapy to the best of our ability with time and finances. We will pray always and continuously for the best possible outcome in all that there is and all that we do. As always, I will keep you updated on anything that happens with Thomas.
So happy to be informed. Knowing what is going on is way better than hoping. We all have faith that God's hand is on this little man's life and he is making his own path.
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