The Geneticist

Sorry, I've been putting off this post because I don't even know where to begin. (I've kinda had writers block.) Last Thursday we saw the geneticist. She explained the results of Joel's DNA test. In very, very simple terms his TSC is a result of a deletion in the TSC 2 gene. This particular mutation has never been seen before (which simply means the lab who did the test has never seen this and it has never been reported.) There is no data bank with all the DNA test results from everybody, so it's hard to know if this mutation has been found before. It should be fairly simple to find out if Joel's TSC is hereditary, Isaac and I will both have to be tested. If either of us has the same deletion then more research will be done. If neither of us has it then Joel's case is spontaneous. The kids will not need to be tested until we know if we carry it, except she suggested having Jason tested at the same time as us since he has a couple non-pigmented spots (which can be a sign of TSC) and is having headaches. If he was ruled out from having it our minds and hearts could be put at ease. Now we come to the more complicated part...insurance and the effect testing us would have on insurance if any of us were found to have TSC. All three kids have CA Healthy Families. Everyone except for Jason is also covered by private insurance. Jason was on his own policy because he was a higher rate due to asthma when he was an infant. Jason alone was $200 per month so when he got the Healthy Families we thought long and hard (and prayed) and decided it was the best decision to cancel it. IF Isaac and I are tested and one is found to carry TSC than Jason would probably be uninsurable. Healthy Families will end at 18 (assuming we will qualify until then, which every year we are right on the border) and then he would be without insurance possibly with a disorder that requires a lot of routine expensive testing. So...we wait to be tested and in the meantime I am applying to get Jason covered with the private insurance again. Easier said than done. Jason already saw the neurologist who ordered the MRI. So as I am applying I have to reveal that he saw that specialist and they will request the records and then....will they not cover him until after the test is done? If not, what if he has TSC? Then he will be uninsurable. This is all so complicated and confusing and time consuming! Please pray that everything will go smoothly and that God will protect our little Jason and our family. Please also pray that during this time I will find a productive way to relieve my stress and that I will not worry. On top of everything else, the geneticist said she wanted Joel tested for autism. The dreaded "word." One third to one half of all people with TSC have some form of autism. The amazing thing was that when she said it I had two thoughts race through my mind, the first being "NO, NOT MY BABY! He has already gone through so much." The second thought that went chasing after the first was "Even if he has autism, he is the exact same baby I walked in here with and he will not change by me knowing." The geneticist said that he might as well be tested as he has some autistic features because there are many benefits he would be eligible for if he has the diagnoses. I can't deny that it makes sense, if he has "it" he may as well get the extra help and if I know he has it I can be working to do something to help him. The complicated part of this is that I called to make the appointment (which they are already booked all the way to January) and I must know that the insurance will cover it before I book the appointment. His private insurance will cover it but there will be a rather large cost to us. The healthy families will cover it IF I get an appointment with C3 (which is run by the hospital but I think it's state funded) to have him evaluated and get them to write a prescription without the word "autism" anywhere in his paperwork (this seems like it is going to be hard because if they evaluate him and see autistic features...which they will...they won't want to leave it out of their notes.) I called C3 today to get an appointment and they don't have one until the end of November, which means his evaluation at Children's won't be until at least March. I will be left wondering if my baby has autism for at least 6 months. I know it sounds selfish but this is torture for a mother. For Joel it means that if he does have it then that was 6 months missed that we could have been helping him. I hate the insurance system. I hate that I can't help my baby right away. Put all the things in this post together in the last week and it makes for a busy, stressful time. I think it's time for me to go open my bible for some encouragement.