Last Friday we were able to see the neurologist and get the results from my daughter’s MRI.
The first thing people asked afterwards was, “How did it go?” which when you think about it is really a difficult question to answer in a situation like this. I sort of wish our family could have all been at the appointment and talked to the neurologist themselves.
In some ways I feel like some of the reactions we felt from others were more the reactions the neurologist expected from us. He kept asking how we were and at one point jokingly called us stoic. I didn’t feel stoic. I just felt calm and at peace.
There was really nothing he told us that was a surprise for us. We know Sage. We knew something wasn’t normal. We’d seen the print out from the MRI and we could understand enough to know that something was indeed wrong. We knew that she was already showing developmental delays mostly in the area of motor development. And we knew she qualified for and would benefit from early intervention services.
So how was the appointment? Well, it was confirmation of all the things we were already piecing together about Sage.
Here’s how it went…
We talked about what her brain looks like.
Sage has what they call bilateral perisylvian polymicrogyria. Which means that the areas on the sides of her brain (both sides) didn’t develop the way that they should have. You know when you see a drawing of the brain and there’s all those folds and creases, well, Sage’s brain has smaller more frequent folds on the sides. Along with some volume lose of both grey matter and white mater.
We talked about what this might mean for her future.
Here’s where I feel the appointment just confirmed things we already knew. Basically the doctor told us that she will have developmental delays and that they will most likely affect her motor skills and speech. But, he was also very clear that with babies we can never really tell predictively the exact track of future development because at this early age the brain is still very adaptable.
When a specific area of the brain is damaged in an adult they can predict pretty accurately what functionality will be affected. But, that’s not as true for babies. Their brains are still developing and functionality isn’t as hard wired to specific areas as it is in adults.
Basically, he could tell us a range of functionality by looking at the literature and telling us the range that other children with polymicrogyria function in. The doctor was very honest in telling us that because polymicrogyria is pretty rare and we got a last minute earlier appointment he hadn’t had a chance to thoroughly review all of the literature. So he said we could call him later this week to find out more.
The most important thing for us to realize at this point was that each baby is unique and only Sage will be able to tell us what she’s capable of and what she’s not.
We also talked about how because of this diagnosis Sage is at an increased risk for seizures. She may never have them, but there is an increased risk that we should be aware of. Bryan and I had some questions at this point since we had no experience with seizures. We talked about what to look for, and what to do if we notice something. We also talked about why seizures are problematic and what they do to treat them should she develop them some day in the future.
We talked about the possible causes of polymicrogyria.
Part of the reason for doing the MRI was that sometimes it can clue you in as to the cause of the problem. In Sage’s case it didn’t really.
Basically polymicrogyria can be caused by an injury (beyond my toddler crawling all over me, which the neurologists said would not have been the problem, I had no known injuries), or an infection (the TORCH blood test checks for the infections that usually cause this and Sage had that test already and the results didn’t show any signs of her having had those infections), or genetics.
Before doing the MRI we were told that Sage’s condition was most likely a genetic problem, after the MRI we are in the same position of continuing to assume that this is most likely a genetic issue for Sage.
We talked about what our next steps should be.
The doctor first recommended a swallow test since I had mentioned that Sage seems to choke a lot and since perisylvian polymicrogyria can effect the muscles of the mouth and the motor skills involved in swallowing and talking.
I am very curious to hear the results of the swallow test since I have always felt like Sage had some trouble nursing, but any time I’d asked anyone about it they looked at her latch and said her latch was great and assured me she was nursing fine. It was a little affirming to have someone say that her swallowing and the muscle tone in her mouth may be the issue.
He also recommended a hearing and vision test, since she hadn’t had a newborn hearing test. He said he wasn’t aware of perisylvian polymicrogyria being particularly connected with hearing or vision problems, but whenever there’s a problem with the brain there’s an increased chance of those problems. So, we will do both of these tests soon.
He also recommended that we see a geneticist. Which was reaffirming since we had already scheduled an appointment with Dr. William Dobyns, a geneticist and neurologist who is the leading expert on microcephaly in the nation.
We also talked through the pro’s and con’s of genetic testing. As much as I hate the thought of putting my sweet girl through another blood test, we do feel like we need to do the genetic testing. And we plan on doing it before we see Dobyns since we know how long it can take to get an appointment with him and we want to be able to give him as much information as possible.
The neurologist also confirmed for us again that early intervention was the best possible thing for us to do for Sage. She will definitely need the support and help of occupational therapists and speech therapists and others who have experience working with children with developmental delays.
Overall, the appointment went well. Not really better than we had anticipated, but also not worse than we had anticipated. It simply confirmed things.
I’ve been thankful that we’ve had time to ease into our new reality. I’ve even felt grateful that there has been such long gaps between doctors appointments. It’s been frustrating at times, but I think it’s also given us time to process and ease into each deeper diagnosis.
I am anxious for our appointment with Dobyns in July, but I am also glad that we have a few months before that appointment. There’s a lot Sage can tell us about who she is and who she’s going to be in those months.
I think I’m slowly coming to peace now with the fact that the doctors aren’t going to be able to take this away and “fix” my sweet Sage. There’s nothing to fix. She is who she is and who she’ll always be. The doctors can’t just give her a pill or do surgery and then have everything be “normal”. This isn’t something treatable. It isn’t something that’s going to just go away. It isn’t something she’s going to outgrow.
Last week I read the essay “Welcome to Holland” by Emily Kingsley. It was a really helpful picture for me. In it Kingsley writes about what it’s like to have a child with special needs. She says,
“I am often asked to describe the experience of raising a child with a disability – to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It’s like this……
When you’re going to have a baby, it’s like planning a fabulous vacation trip – to Italy. You buy a bunch of guide books and make your wonderful plans. The Coliseum. The Michelangelo David. The gondolas in Venice. You may learn some handy phrases in Italian. It’s all very exciting.
After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, “Welcome to Holland.”
“Holland?!?” you say. “What do you mean Holland?? I signed up for Italy! I’m supposed to be in Italy. All my life I’ve dreamed of going to Italy.”
But there’s been a change in the flight plan. They’ve landed in Holland and there you must stay.
The important thing is that they haven’t taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It’s just a different place.
So you must go out and buy new guide books. And you must learn a whole new language. And you will meet a whole new group of people you would never have met.
It’s just a different place. It’s slower-paced than Italy, less flashy than Italy. But after you’ve been there for a while and you catch your breath, you look around…. and you begin to notice that Holland has windmills….and Holland has tulips. Holland even has Rembrandts.”
I think even though I was doing pretty well with Sage’s diagnosis I still in the back of my head thought “well, yes, I’m in Holland, but I’m not staying in Holland. I’m just passing through.” But, the past week or two I’ve started to come to terms with the fact that, at least for my little family, there are no flights leaving Holland. This is our reality. This is who Sage is and it is now who I am as well. I am the mother of a special needs child. It is and will be my reality. God has brought us to Holland and it is in Holland that he will come to us and walk with us.
All that is not to say that there aren’t things we can do. Yes, there is nothing we can do that will just take this away from Sage, but there are things we can do that can help her to reach her full potential. There are opportunities we can give her that can give her the best possible advantage. And so, we’ll keep doing therapy with her, and looking into different types of therapies. And we’ll give her healthy bouts of stimulation, and play Lots of music for her. And I’ll breastfeed long term and make sure she gets lots of healthy fats in her diet. And we’ll take each day and each year as they come, listening and learning who Sage is as we go. And we’ll see where she takes us.
And isn’t that all any of us can do for our children? Listen and learn and see where they take us?
Rejoicing in the journey,
If you'd like to help with medical bills or the other expenses related to Bryan's cancer or Sage's special needs click here. Thank you! We are forever so grateful to so many who have gotten us this far and continue to carry us forward. Grace and peace.