Neurology consultation

Ryan, Thomas and I went to the neurologist earlier this week to have a consultation. When Dr. Taft, our neurologist, called with the Pachygyria diagnosis back in April, I had never heard of it. I wanted to take some time to process the new information, do a little research, wrap my head around it and develop a list of questions. Thomas and I both had input into the questions we wanted to ask and then eventually wound up at this consultation appointment after playing some phone tag.

Ryan at the Pediatric Neurology office

Dr. Taft explained that Pachygyria isn't a "disease" or a "syndrome" it's merely a description. Pachy means thick and gyrus are the folds in the brain, so Pachygyria means "thick gyri", or as it's been described to us in the past, the folds are thicker and there are fewer of them, which creates an overall smoother appearance to the brain. When I asked how to describe his condition on paperwork and various forms that I have to fill out, he said I could say that Ryan has a genetic abnormality that created a neuro cell migration defect which led to pachygyria that causes developmental delay and seizures. Now there's a mouthful for ya! I probably should try to commit that memory! Anyway...

Here's an overview of the Q&A. These are in no particular order and are actually probably jump around a little bit, but here ya go!

• It is 90%+ odds that he'll have seizures
• We won't know what type of seizure he will have until they start
• There are 5 or 6 generalized seizures (meaning it affects his whole brain) and several focal or partial seizures (meaning only a specific area of the brain is affected)
• There isn't much I need to do to prepare for the seizures other than to just keep a close eye on him - and practice common sense, i.e. don't leave him unattended in a bathtub (which I would NEVER do), don't let him climb trees (he can't do that right now anyways), etc. He could have a seizure at any moment, so it's best to make sure he is safe. Dr. Taft did say that he wants Ryan to do normal things - be around his brothers, play outside, have external stimulation, etc. so we don't want him in a bubble, but just have to keep a close eye on him. I didn't get a full tutorial on seizure types and such because, let's be serious, how deep can we really dive in one single appointment with lots of other questions I had to ask. People go to school for years to learn about and understand seizures...they're called doctors (or neurologists)...so I just still have some very limited knowledge. I figure I will learn alllllllllllll about them when the time comes.
• There aren't any plans for a medicine change. Right now, he's not having seizures and he's taking Topamax. We can't say for sure if the Topamax is preventing the seizures or whether his brain is not creating them....and we don't want to test it out by stopping his medicine. So we will just continue along with Topamax until/if it stops working. Human brains will grow and change over time, which means that Topamax might not always work for Ryan. We may have to play around with several different kinds and dosages of medicines throughout Ryan's life to try to get something that works best for him, and it's all subject to change at any given time. We will cross that bridge when we get to it.
• We need to stay close to a pediatric neurologist until he's 18. At that point, he'll begin seeing a regular neurologist.
• I asked about his normal EEG. Dr. Taft conceded that it was surprising and unusual, but also said that the EEG only tests a specific amount of time and it's not perfect. Still though, we will take it as a good sign. :)
• I asked whether Pachygyria would lead to a shortened life span. The answer is "possibly" - but not necessarily. Kids with neurological issues end up with other complications that can turn serious. For example, Dr. Taft was saying that he gets very concerned about pneumonia. What could start out as a little cold, could progress quickly because these kids can't cough out the sickness and it can become dangerous. He reminded us that we need to be very aggressive with treatment when Ryan gets sick and to go to the pediatrician whenever needed. We will be his advocates.
• We got genetic testing results back last fall, and it appeared normal. I brought this up again as Dr. Taft has said several times that Ryan's migrational defect is no doubt a genetic abnormality. He didn't recall specifically the type of test that we had done before, but now that we know more, we can order different/more specific types of tests. While we were there, he actually looked in the system for our genetic tests and apparently of the 2 tests that were orders, only 1 actually went through. It doesn't matter now though since we would be doing different tests at this point. Dr. Taft is going to put us in touch with Greenwood Genetics to do some further testing. It's amazing that we happen to have an internationally known genetics center right here in the upstate. After Dr. Taft has made the referral, it will take a while to actually get an appointment and then a long time before the results come back. The drawback to genetic testing is that it's cost prohibitive. He said they could call around and figure out what insurance will pay for and if we can get it done cheaper at one place versus another. The positive thing is that based on what they find, we may be able to understand the specific gene that is affected and can find other people with the same issue and possibly get some answers as to what life is going to look like for Ryan. If it's a new gene that hasn't been discovered yet, it could help people that come after Ryan that have the same gene. I clearly am no expert on genetics and it's wayyyyyyyy over my head, but this is very interesting to me and I want to explore it further.
• Ryan's Pachygyria severity is moderate. He's around a grade 2 - 3, which is in the middle of the spectrum. 
• Dr. Taft said he's had other Pachygyria patients and Ryan does seem similar to them, and actually maybe better.
• He said we should not worry about or try to avoid light up or vibrating toys for Ryan. He said that if he's going to have a seizure, he will have it, with or without these types of toys. 
• I asked about hippotherapy, which is basically therapy on a horse. It is apparently VERY helpful and kids love it. Dr. Taft agreed that it would be a great option for Ryan, but thought he may need to be a little older. It's something that I will look into.
• I asked whether Ryan has microcephaly. Through my online Pachygyria research, I came across this. It just means (and literally translates into) small head. I've noticed Ryan's head doesn't fit in hats the way his brothers' heads do. Dr. Taft said he does probably have it and that it's really just a description, the same way pachygyria is a description. Head size is directly related to brain development, since the head grows as the brain grows. I got the feeling I shouldn't get too hung up on this.
• You may remember that Ryan had a brain bleed in the NICU, and since neither of his brothers had this, I was wondering if it was related to his migrational defect. Dr.  Taft confirmed that the brain bleed was totally unrelated to these issues, but instead was a result of his prematurity. He said we were very lucky that neither of the other 2 had brain bleeds, since it's very, very common in babies born that early. 
• Finally we discussed our participation in some research studies with some of the very well-known doctors that deal with these types of issues. The limited amount of research that I'd done already told me that the waiting list to have your case reviewed is more than a year long and Dr. Taft reiterated that but said that he doesn't see any reason why we shouldn't do it if we wanted to. The issue is that it will be more beneficial to have our genetic testing results included in our request so it's best to wait until we get that back. So we'll probably be looking at 6 months to a year to get our genetic testing results and then it will be 15+ months after we send in all the information, so we are looking at a few years, realistically, before we could get anything back. I do think it will be worth it, so we'll generally head in that direction, knowing that we'll need patience. 

Thanks for reading all this information about our sweet son. The one thing I can say is that Thomas and I love Ryan unconditionally and will do whatever we can to help him. I tend to shy away from confrontation or the "bulldog in a china shop" way of doing things, but I realize I may need to step up at times when and if we feel like Ryan isn't getting the attention or care that he needs or deserves. This goes back to us being Ryan's biggest advocates. I think he's been very well taken care of so far and I hope it continues, but I also hope my mama bear instincts will come out if I feel like we need to fight for him in any way with insurance, his medical team, therapists, etc. Please keep Ryan in your prayers. We want to pray for him to remain seizure-free and to continue to develop and progress. Our sincerest thanks for your care, concern, love and prayers.