This morning we got up at the buttcrack of dawn to head to Seattle Children’s Hospital to meet with Dr. Dobyns. After a long weekend in Portland, and a stark deviation from her “schedule,” we were all a little frayed around the edges. Fortunately, we did not hit much traffic and coasted on in to the city with time to spare. Before we found out we were meeting with Dr. Dobyns, we had heard so much about him. He is a bit of a legend in the liss community. He came up withe gradient of the disorder (scaled 1 through 6) and he has done extensive research on brain malformations. He is quite literally the expert. We had so much anticipation and nervousness going into our meeting. I thought for sure he would burst into the room in a hurry and tizzy and treat us like inferiors who are encroaching upon his precious research time. That could not be further from the truth. He came in with a smile on his face and immediately offered his hand for a firm shake. He then spent over an hour showing us images of brains that are like our daughters and then he reviewed her MRI scans in detail with us. He was incredibly methodical and thorough in his delivery. He answered a lot of questions I had before I could even pose them. All in all, I think it was a great visit.
When we left the hospital after M’s first diagnosis nearly 5 months ago, we had absolutely zero prognosis. Our medical team refused to even hazard a guess as to M’s future. We knew she had a very devastating form of epilepsy and that she always will have a very devastating form of epilepsy. We knew she would be handicapped both cognitively and physically. And that is all we knew. Of course, we scoured the internet looking for clues, trying to piece together some semblance of hope for Madeline. We would tell each other, “I found this one kid today who is walking and talking and can ride a bike! But, I also found out this other kid passed away at 18 months old.” There really was no way to predict even our immediate future based on our scant knowledge of her condition.
Until now. Although much is still unknown and will be known in time, here is a breakdown of all of the information (or at least the things I can remember) of our meeting with Dr. Dobyns.
1) Madeline does not have true lissencephaly. She undeniably has what is known as subcortical band heterotopia (also known as “double cortex syndrome”). Technically, SBH is on the lissencephaly spectrum, but it is a Grade 6 out of 6. Dr. Dobyns said he knew she had SBH within 10 seconds of reviewing her brain images. He explained that SBH is commonly misdiagnosed as lissencephaly by doctors who have never really seen SBH and in younger patients. Given M’s age (11 mos), her brain is relatively immature compared to a 3 year old; thus, her convolutions (brain folds) are so shallow as to appear non-existent. Dr. Dobyns was very precise and firm that she has SBH and not lissencephaly.
2) Even within the diagnosis of SBH, there is a spectrum of severity depending largely on two things: 1) the thickness of the bands; and, 2) the degree of epilepsy. Typically, the thicker the bands, the more severe the handicap. The more out-of-control the epilepsy, the more severe the handicap. Madeline’s bands are moderate to thick. This means that she is at a larger risk for being severely epileptic and handicapped. Dr. Dobyns’s bottom line was that Madeline will be intellectually handicapped, we just do not know how severely until her brain matures.
3) Madeline will walk. Dr. Dobyns said with certainty that she will walk. However, it will not be a “normal” walk and it will be delayed. But, she will walk. He predicted around 18 months of age. He said she will crawl, she will cruise, she will walk.
4) Madeline will talk. It will not be “normal” and it will be slow. Her language ability will depend largely on her degree of intellectual handicap.
5) Madeline has a very, very, very good chance of surviving into adulthood. Most “girls with bands” (the phrase he repeated quite frequently) live for decades. Though with any disability, the life expectancy is shorter than “typical” persons. He predicted, barring a long time of uncontrolled seizures and any other underlying medical issues, that Madeline could live into her 50s. He then strongly urged us to start planning financially. Someone will need to be responsible for her care when we are no longer around.
6) Seizure control. Seizure control. Seizure control. We need to be aggressive and attack seizures. Girls with bands are at a risk for every known type of seizure. Dr. Dobyns said there is a 100% chance she will have future increased seizure activity. He cautioned that seizure medications will have side effects, but those pale in comparison to the absolute devastation that seizures will have on her development and quality of life.
7) Dr. Dobyns told us not to be surprised that some point in Madeline’s early childhood, she will appear to be doing quite well. (Like she is right now.) However, that will not last. As these children get older, their seizures get worse. The goal is to prevent her from regressing; from “sliding backwards.” If she is progressing, no matter how slowly (inches!), then we are doing our job. Seizure control does not mean that she does not have seizures. It means that she does not regress in her development. He told us that if there is ever a time when we are frustrated with our primary neurology team and we do not feel the seizures are being treated aggressively enough, then we are to see him.
8) We talked a lot about genetics. There is an 80% chance that Madeline’s condition is caused by a mutation in her DCX gene, which is an X-linked gene. Brian is automatically ruled out as a carrier for her condition because males with DCX mutations are usually very severely affected. That leaves me, her mama. Dr. Dobyns believes that based on the thickness (severity) of M’s SBH, that I cannot be a carrier. To say my understanding of genetics is limited would be an understatement. But, he explained that if I was a carrier for her condition (meaning every single one of my X cells was “compromised”), then I would be affected. There is no way I couldn’t be. He said that if I was a carrier, then I would not be a “normal mother.” What he thinks happened is that I have what is called “mosaicism.” That some time when my cells were multiplying in embryonic development, that one of my cells mutated. But only one (or a small percentage) and the rest remained “normal.” This would mean that approximately 5-10% of my cells are “mutant” and the rest are normal. They do not know if the mosaicism affects all of the cells in my body or just the eggs in my ovaries. Under this theory, the egg that became the embryo that is now my Goo was affected. Also under this theory, this means that future children could potentially be affected. We then discussed the possibility of genetic testing. There are some tests that can be performed early on in a pregnancy (between 8-10 weeks gestation) that could determine whether or not the baby would have this condition. If the baby had the condition, I would then be presented with the option to terminate the pregnancy. Knowing myself and my husband, rebounding from the emotions of termination would be unbearable. Thus, the option of genetic testing of embryos. We could perform genetic testing of embryos and then implant the embryos (also known as IVF). However, all of this could be completely and entirely moot because there is a 15-20% chance that Madeline’s mutation is not on her DCX gene, which means that she did not inherit her mutation from me. If this is the case, then Dr. Dobyns said “she will become my research project.” He is trying to identify all of the genes that code for SBH.
Well, that, my friends, is 3 hours of information and conversation boiled down into a blog post. Dr. Dobyns said, more than once, that “this is a better outcome, but it’s still not a happy outcome.” On this point, I do not think he could be more wrong. When you are led to believe that your child has a 50% chance of living to age 10 and you learn that she can live much longer than that, it is surely a blessing. We are committed to giving Madeline the best quality of life we can. She is just so undeniably special.