Today I took both boys to see Dr. Kathy Stephens at T.C. Thompsons in Chattanooga. She is a geneticist. It was a relatively simple appointment. After rousting the kids out of bed long before they wanted to be awake, we drove up, arrived at 7:15 AM and and waited in the waiting room for almost 3 hours. Jake was pretty fine with this.. Manny was a little harder to handle.
The Dr. asked a lot of questions, and examined both boys thoroughly from head to toe. After that she left for a little while and came back and we talked about each boy.
First Manny:
She gave him a definitive diagnosis for NF1. So there you have it, Manny has Neurofibromatosis Type 1. We could do the actual gene test for this, but there is no real reason for this. If it looks like a duck....
She said that 50% of children with NF1 have learning disabilities, and that it is very rare for children with NF1 to experience global developmental delays or mental retardation. She said that most people with NF1 lead normal lives. This all sounded very hopeful and I was feeling very relieved. Then.. I realized that there was a "but"...She mentioned that Manny is developmentally like a 1 year old, and on some things, even further behind. I knew this, and say it myself all of the time, but somehow it was much harder to hear from a medical professional. So Manny's symptoms are more severe than the average child with NF1 because he DOES have global developmental delays. She recommended a full chromosome test for Manny so that we can see if there is anything else going on genetically. The test will look for deletions or duplications in parts of genes.
Also, she will refer Manny to the Babies Can't wait program. This is something that I have planned to do, however was sort of half waiting until school started for Jake so that I would have some time to take Manny to all of the appointments that will be eminent once that ball starts rolling. She also pushed the issue that we need to get his hearing checked sooner rather than later.
On to Jake:
Like everyone else that sees Jake she confirms that he has lots of autistic symptoms, but that he talks a lot and interacts and such. So as usual you get the term "autistic-like". She doesn't share my suspicion at all that the children show signs of 22q13 deletion syndrome. In fact, she says that children with 22q13 almost always have almost no speech at all. However, because of family history of delays she recommended the same test for Jake.
We were sent down to the lab where we waited another hour to have blood drawn from both boys. Manny happily smiled at the technician (who was wonderful by the way) while she stuck both arms. I put Manny on my back and wrapped my entire body around Jake to keep him still while he screamed bloody murder while she took his sample. To my dismay we walked back out to a lab waiting room full of horrified looking 4 - 6 year olds that got to hear his wails.
On the way home I asked Steve to call Dr. Reisners office about the MRI results. He did, and the receptionist told him that Manny had MISSED an appointment on July 15th (the day of the MRI). It turns out that the hospital had instructions to send me straight over to Dr. Reisners office for interpretation of the MRI. I, however, was given the opposite instructions and told to go home and that it would take several days for the MRI to even REACH his office (because well, its across the parking lot right?) and a few more days for him to call me. (They also had instructions to do an MRI of only his spine, instead of spine and brain, which I had to argue with them about while holding a flailing unhappy taped-up baby). So now Dr. Reisner is out of the office for 2 weeks and we have an appointment to go BACK to Atlanta on August 4th, when we can finally know if they found anything on the MRI. I am only to assume that there is nothing life-altering to be found on the MRI, I suppose.
While I was in Chattanooga today Steve went to registration for Jake's school. We found out that Headstart classes start one full week after regular school, so we cancelled our family vacation for no reason.
That is all I can stand to write for today.
