Christian had a sedated MRI on April 10th to check the severity of his scoliosis and kyphosis. It took about a week and a half of waiting to get those results. His spinal cord is fine, which is a huge relief because they weren't sure how bad his spina bifida was. He does have to have surgery to fuse 4 or 5 levels of vertabrae in his back because he has fusion in the front ribs that is causing his "hunchback". Dr. Puffinberger thinks it will be ok to wait until after summer so Christian doesn't miss out on any of the fun stuff we have planned. I am excited about that part - if it is possible to be excited about surgery at all. They will also have to place rods in his back to prevent the s-curve from getting any worse.
The results from some of the test the genetic counselor did came back and Christian has Bernard-Soulier Syndrome too. This is also called Giant Platelet Syndrome and is a severe bleeding disorder. There is no treatment and basically we just have to pay very close attention and limit any rough play. He will probably have to have transfusions with any surgery - but transfusions are the only way to build his platelets up so that may be a blessing in disguise. Christian's growth hormone levels showed to be low also. Last week he saw the endocrinologist and they did a bone scan - we should get the results next week. He has a hormone test scheduled next week and they basically try to jump start his growth hormones and then they draw blood every half an hour to see if his body can maintain its own levels or if he needs synthetic hormones. They said the study takes a few months - which works out because he can not start the therapy until after his back surgery. The good news is maybe when they start Christian will catch-up a little on his size. He is excited about possibly "growing bigger". |
