Tomorrow, we will venture off to Boston for a special trip to Boston Children’s to meet with some Lissencephaly specialists. The number of doctors who specialize in this are literally in the single digits! We started planning this trip pretty directly after we got the diagnosis (huge thanks to Aunt Meredith’s research) and included sending almost every bit of medical information Paige has, countless emails and confirmations with the people at Boston Children’s, and a lot of help and support from the doctors in Pittsburgh. So far, the planning has gone pretty smoothly with a pending snowstorm being the only snafu. However, even that looks like it might not be as bad as originally anticipated. (I hope I’m not speaking too soon!)
We are scheduled to have two appointments on Tuesday afternoon. One will be with a renowned expert in Lissencephaly and the other will be with a geneticist. The first doctor will thoroughly go over Paige’s brain scan with us and basically just give us more information and resources. The geneticist will talk with us about the possible whys and hows of Liss. From what we understand, there are several reasons how Liss can occur.
1. Both Andrew and I are carriers for a particular gene that would cause the brain anomaly. If this is the case, there would be a 1/4 chance of this happening again with any other biological children. This is the case I’m fearing the most, as we both come from large families and planned on having a big family ourselves. A 25% chance might be too big of a chance for future family planning and it would absolutely devastate me if this is the case.
2. Another reason could be due to an infection, particularly Cytomegalovirus (CMV), that I could have contracted around the 12th – 17th week in pregnancy. When we met with our neurologist in Pittsburgh, she said that she didn’t see any indication of infection in Paige’s MRI report but couldn’t completely rule that out for sure. I had terrible morning sickness throughout my first trimester and half of my second so it could’ve very well had a virus but I’m not going to speculate that until we know for sure. This would be more of a medical reason and not-so-much a genetic reason so the odds of it happening again are slim.
3. A random deletion of a gene. Basically, a genetic freak accident. A fluke. There is no real science behind it and it’s just something that happened. If this is the case, there is less than a 1% chance of happening again It sounds like it’s the best case scenario but when you consider the odds of having a child with Liss is already slim (1 in every 100,000 babies) it doesn’t really say much.
We are still waiting the results of Paige’s blood work to know the cause for sure but it still might be another month or two.
Sooo. We don’t have her genetics results and Lissencephaly isn’t even curable so why even go? For information, support, and details! We figured, we already got the worst information and anything else we can learn would be helpful. The doctors in Pittsburgh have been incredible with providing us with everything we need but are completely supportive of the Boston trip. Paige’s neurologist actually gave me EXTRA reports from her EEG’s to show the neurologists at Boston Children’s. (I thought that was super nice of him to take the time to do that!)
We leave not-so-bright but VERY early in the morning tomorrow and hopefully get some exploring done. Big thanks to Andrew’s family for all of their help with everything – especially watching WIll, my sister for sticking around with him tomorrow morning so the transition will go smoothly (she was in town for The Avett Brothers concert – SO fun!), my family for being backup caretakers and being there for support, and my local friends for offering their homes as backup backups if we need anything!
I’ll update when we return!