Our first day at UCLA we sat down with a few specialists and the conversations flowed. They asked questions about Layla as she is now, where she came from etc. And within an hour they were already able to give us the results from our whole genome sequencing studies. We had all sent down blood work in December and they had been running tests over the 6 months prior. So we started the week with the answer we had been waiting to hear. That came as a big surprise. We took the rest of the week to process and read through the documents they had provided and then closed up on Friday with another meeting including the same people where we were able to ask questions. I have to say, I liked that more than the build up to an answer then send you home without time to ask questions in person. The appointments were all booked with a large chunk of time. We never once felt rushed and they took the time to explain everything very detailed and in layman's terms as much as possible. Though there still some stuff I won't completely understand without a degree in biology.
Pontocerebellar Hypoplasia type 2D. Or how I will mostly refer to it because it's quite the mouth full is PCH2d or plain old PCH2. That's it. That's what Layla has.
PCH is a result of a gene mutation. In Layla's/our case it comes from a mutation in the SEPSECS gene. It is a auto recessive disease meaning it must come from both parents. Layla situation is unique because the genetic abnormality passed on from Aaron is somewhat typical of the SEPSECS mutation but the abnormality exon skipping passed down from myself, which Layla also has is supposedly the first they have ever seen and likely the only they will ever see (apparently there will be a paper written and a presentation by the end of the year on it). The combination of the two of us has resulted in PCH2d. The SEPSECS gene provides instructions for making an enzyme that is involved in building proteins called selenoproteins. They are critical for normal brain development and for the function of nerve cells.
Pontocerebellar hypoplasia is a group of related conditions that affect the development of the brain. The term pontocerebellar refers to the pons and the cerebellum. The cerebellum is located at the back at the brain and is the place that is responsible for helping us hit all physical milestones, including, grasping, making purposeful movements, walking, talking... The pons are located at the base of the brain in the brainstem and are responsible for transmitting signals between the cerebellum and the rest of the brain. This explains more how we were told a very long time ago that the communication between the eyes, the ears, the muscles and the brain are where the issues lay. Not necessarily those things themselves.
The results of Layla's MRI in comparison to her 10 month old scans show that her brain as a whole and in her cerebellum are still now more so underdeveloped and slowly atrophying (wasting away). Because she's only had the two we don't know how fast that will happen but that is par for the course unfortunately. We will keep our MRI booked for 2018 in Canada so that we will have another comparison to look at.
With diseases like this that do not have a cure our main goal is symptom management. The neurologist, after going through the MRIs, explained that while this shows what is happening in the brain what is most important is what she shows us. If she's experiencing joy, that is fantastic. We shared of all the positive changes we've seen in Layla in the last year they were encouraged. The fact that Layla has likes and dislikes, is recognizing familiar things and moving her arms are legs more is a very positive thing because with this disease progression one would expect to only see it get worse.
I'm sure reading this might not sound like this was such a positive experience. And believe me, It's not at all like we're happy to hear that Layla has this awful disease. But there are many benefits to knowing why she is the way she is personally for us as well as to her medical team. Plus there is now one less unknown thing about her. This doesn't really change how we act and feel towards Layla. We've already been living with a symptom management attitude. There is a private group on Facebook I discovered that has parents of children with PCH from around the world. This has been an incredible place to go to. A group who really get what we're going through and can give advice from a personal level of experience that even the top specialists will never understand.
Aaron and I absolutely love our little girl and will do all that we can to keep her happy and healthy as long as possible. But if anything, our journey has made us realists and we are not naive to the fact that our daughter will never reach most milestones. We know she has the sweetest personality and are so thankful that she has become much more enjoyable for all to be around in the past year.
Some may be curious to hear that for recurrence- they have confirmed that if we had any future children they would have a 1 in 4 chance that they too would have PCH2d. So we have made the informed decision to close that door for us as the odd are too high for us to consider taking the risk.
We have given more blood work and skin biopsies from us all so that they can continue to test. They will be growing our skin cells to do some continued testing (I know, crazy). This could lead to further information being sent our way in the coming months. They will also keep us informed about any possibly studies that we could take part in.
Both Aaron and I are so thankful for all the love and support that people have shown towards our family. I know that there was and continues to be a lot of prayers and good thoughts sent our way and I honestly don't know if we could do this without them. So from the bottom of my heart, if that is you, Thank you.
Both Aaron and I are so thankful for all the love and support that people have shown towards our family. I know that there was and continues to be a lot of prayers and good thoughts sent our way and I honestly don't know if we could do this without them. So from the bottom of my heart, if that is you, Thank you.
If you want to read any more information on PCH2 here's a link.
