I’ve been in a tunnel. How about you? When it’s hard for me to write that means I’m still in my tunnel. Guess this means I’m coming out! It’s a grey day, I’m listening to thunder and watching leaves fall. I’d planned to go out this afternoon to the gym and to run a few errands but lately Ollie and I prefer to be “cozy” on our couch when we’re actually unscheduled. The bird is asleep and I’m finally ready to spend some cyber time with you guys. So here’s what’s new:
We went to see the geneticist. I’m writing about this because I don’t really want to talk about it. This means I truly don’t want to talk about it. Truly. Talking about it gives it more space, more air time, more weight than I’d like it to have. Still, we want you to know, want you to understand and be part of our story. The whole point of going to the geneticist was to determine the level of risk Lynden and I would have if we conceived another child. Now, now don’t get your knitting needles out quite yet. This is future planning not next week planning. The idea was to have Lynden and I tested for Tuberous Sclerosis. The reason is that Ollie has one major and one minor sign of TS. We don’t know for sure if Ollie has TS or not. He had a brain MRI to look for a second major sign and it was clear. The final answer lies in DNA testing. Up until now we’ve chosen not to test him for several reasons. First, he is healthy so more medical testing isn’t in his best interest, second we like him just the way he is TS or not and don’t feel a burning need to add a label, third it’s just plain expensive.
What we learned is that Lynden and I cannot be tested for TS right now. The reason is that TS is not a recessive disease. In other words it isn’t as if Lynden and I could be “carriers” and have no symptoms. The only way TS could be in our life is if one of us has it or Ollie is something called a “De Novo.” A De Novo is a new mutation. This means when I got pregnant there could have been a spontaneous “surprise” mutation that happened. In our case that surprise mutation would be TS. What does this all mean? Ollie has 2 signs of TS, we have to test him first. There is one company in the whole world that tests for TS. We would send a blood sample there and 6-8 weeks later we would learn if he has the TS DNA marker or not. If not, yeah, yipee we are officially done. If so, then Ollie would need to see a few more MD’s to monitor him for more symptoms of TS from now until forever. If he does have TS then Lynden and I will be tested. That is how we find out if Ollie is “De Novo” or if one of us has TS.
What are the odds:
1. Looks like Lynden and I probably don’t have TS. At least on the outside. We don’t have a family history of TS symptoms.
2. If Ollie does have TS and he is a De Novo in other words he got the surprise mutation then we have less than 1% chance of it happening a second time with another baby.
3. If Ollie has TS and one of us has TS (the most unlikely scenario) then we would have a 50% chance of having another child with TS.
So basically we have either less than 1% chance or a 50% chance of subsequent children in our family being affected by TS. Are you exhausted? I am. We truly don’t know if Ollie is affected by TS. It’s great that he had a clear MRI last year but that doesn’t mean he doesn’t have the disease. This MD told us that many children don’t start showing signs or symptoms until age 10 or so. We are encouraged though that Ollie is very healthy and his development is on track. If he is affected it is very mild and of course we can handle it in the years to come. The glass is more or less half-full.
We haven’t decided when we are going to have this test done. Our family life is really rocky right now. Lynden’s job is extremely demanding and he has some health issues of his own that he’s working out. I’m working a lot and trying to keep up with the demands of being Momma… We’ll get the test done when we feel ready and perhaps not until we are sure that we are ready to ride the parenting train again. We’re so grateful for the support we’ve received from family and friends and I apologize for my hibernation. I need a minute to breathe and I need to get away. Both of those things are in the plan this month. I’ll be back!
PS-I’m preparing for Christmas during my hibernation. One of my goals is to collect 25 Christmas books for Ollie to read from Dec 1-25. So far I have only 4. He will have a tree in his room and a basket with a book for each night. I actually plan to wrap them. CRAZY!! Send us a book or a book suggestion. We’ll be sure to put your name on it when we read it to him!