Aaaahhh, it’s nice to be back on my couch! We just got home from our trip and it was productive, exhausting, and we even had some fun! It was, actually, a pretty painless trip all-around. Monday morning we were out of our house at 6:30am and were in our hotel exactly 5 hours later. No hold-ups, no problems, nothing! It was amazing and we had a whole day to explore, eat, and relax. Unfortunately, it was 9 degrees out and windy as H-e-double hockey sticks so that limited most of the exploring part out for the day. Let it be known though, had it been warmer out, we would’ve been all over that city and we’ll definitely be back for leisure at some point! I won’t bore with details of the hotel set-up (it was a Best Western) and our fabulous dinner (Andrew had trout and I had crab cakes) so I’ll get to the point of the trip.
Tuesday we had appointments with a neurologist and a genetics counselor, both of whom have extensive experience in treating Lissencephaly. We sent all of Paige’s records and scans to Boston Children’s and a whole team of doctors from neurology, genetics, and radiology reviewed them before we got there and compiled a report. I’ll break down the appointments separately but I want to make a point that we didn’t go into these appointments blindly. We know that Paige’s case is severe and we already knew what we can expect for her future. We also knew that we wouldn’t hear any miraculous news that she’d be cured and the doctors in Pittsburgh had it wrong. We wanted to know from an expert that the course of action with therapies and seizure control are correct and if there was anything else that we could educate ourselves more. We were also encouraged to go from our local doctors because, while they are absolutely wonderful, they simply don’t have that much experience with Liss. In fact, one neurologist said that she’s been practicing for 25 years and has only seen a few cases. We just wanted confirmation.
The neurologist at Boston Children’s was incredibly personable and kind. She knew that we traveled for the appointment and was clear and concise the entire hour we were with her. We heard what we knew what true: Paige has Classic Lissencephaly – Type 1. Her whole brain is smooth aside from a small portion in the front. Even though there are definite brain folds they were still abnormal. Again, we can expect her to never walk, talk, or take care of herself, and she will eventually have uncontrollable seizures. Also, due to her brain abnormality, she’ll most likely go through early puberty. We definitely knew this, but it’s never fun to have to hear it again and again. One thing that the neurologist did say is that Paige will be the one to decide what she will and will not do. With extensive therapies, Paige could very well learn to communicate using nonverbal language, sit up, move around, use her hands, etc. Doctors are surprised every day and she said that she was pleasantly surprised that Paige was so vocal and interested in her surroundings.
As we know, seizures are a huge concern we have for Paige. We know that they are imminent but they are treatable right now. Since Paige has been off of her ACTHar steroid we have not seen any signs of seizures or spasms (thank God!) but since we know they’re bound to happen we are tossing around the idea of putting her on a preemptive anti-convulsive. We are definitely not medicating for the sake of it being available but the reasoning is simple: seizures can be incredibly damaging to the brain and even fatal. They can wipe out any progress she has made in her 8 short months and render her nearly motionless. They can trigger respiratory issues which cause other issues.. (you get it).
Our doctors in Pittsburgh and I originally agreed that we would wait to see what her seizures looked like before we put her on a medication. There are so many types and medicines that it really would be effective if they could match the right one to the type of seizure. However, the more Andrew and I thought about it, the more we’re not sure if we want to wait. What if a massive seizure strikes and she never smiles again? Or she stops cooing? Or <insert rational/irrational concern>? These are the things that keep us going and would be devastated if she lost those!! Paige has a follow-up EEG this month and the neurologist agreed to wait for that to make a reccomendation. There really is no right or wrong way to go about it.
Next was the genetics appointment. We didn’t exactly know how worthwhile this appointment would be because we still don’t have our blood work results back from the lab in Chicago and they probably won’t be back until April. We made our Boston appointments shortly after the diagnosis and hadn’t had a genetics appointment yet. It is also kind of a “package deal” when you’re going to see this team and we’ll take all of the information we can get. The results of the gene panel really hold the key to what we want to know: How will this affect our future family planning? In my last post I mentioned several ways it could.
As we already knew, the genetics counselor couldn’t tell us 100% sure until she had the results (and even then it’s still not 100%) but the radiologist, neurologist, and she agreed that all of the evidence made it appear to just be a random gene deletion. A freak genetic accident, if you will. If this is the case, there is a less than 1% chance of this happening again and we can feel confident in adding healthy children to our family. It was absolutely great to hear, but I’m not getting excited until that panel comes back. Even then I’m not sure how I’m going to feel – I don’t like odds very much…
That pretty much concluded both appointments. We really went in there for confirmation that we were proceeding with the correct forms of treatment and therapy, and left assured that we were. It was worth the trip to hear the information and their additional recommendations and now we have connections with two of the most incredible hospital systems in the country.
That. Is. It.
Unless you want to know what we did for dinner in Boston. In that case, I’ll tell you. We went to luxurious Applebees after picking up diapers at Target. Some things never change!
I wish I would’ve taken more pictures but my iPhone doubled as a GPS, record book, and pretty much held all of the information I needed…