UDN

The undiagnosed diseases network has just published a little blip about Layla based off of our recent visit to UCLA in July. The hope is to find other children in the world similar to her and have research done that will help families going forward. We are so fortunate for this opportunity and are thankful to have some incredible doctors take on this task.

https://undiagnosed.hms.harvard.edu/participants/participant-038/

A season of REST

Just yesterday I was sharing with Aaron how thankful I am that Layla's sleep has improved. The past near 6 months she has consistently (85% of the time) been sleeping for 6-8 hours straight at night. And to top it off she has been falling asleep often on her own! This has been life changing for our household. We all like each other a bit more when decent sleeps are happening. Then of course as soon as we have this conversation she goes ahead and has a rough night last night. What are the chances? This is why I'm nervous to speak too soon. Fingers crossed it's a one off. Every time she has a night with little sleep my heart rate rises and my eyes stare to watch seizure activity. Sleepless nights are a trigger and I pray that we will not see another grand mal seizure. So far so good today. A few strange symptoms but I believe they are just to do with the lack of sleep and trying to get her caught up. The great news is that it's Monday which means we have a overnight nurse who will keep watch of her and I won't have to get up if she does.
It's my second week home from my vacation and we have an abundance of changes happening in our lives (selling our house, looking for a house to buy, where to live and store out things in the mean time, job changes, in search of a preschool, in search of a new respite worker.. sheesh.) I was able to sneak away for a wonderful ten day vacation in Australia where my one sister lives with her husband and doggies. It was the longest I've been away from Layla but she was in very capable hands with her dad and then at Canuck Place for majority of the time. She did so great. They took her on an outting to a pumpkin patch and then later she carved a pumpkin with the Canuck Players who come every year. Who knew that I really needed that time away to prepare for the stresses I was coming home too. I might need another vacation in a few months to destress again. Maybe not quite as far away.
While I was gone Aaron met with the orthopaedic surgeon for Layla's hips. The doctor is still happy with the range of motion and very glad to see that she's not seeming to be in any pain. Even with them going out of place she believes we can continue to push the surgery. We will go for another appointment in 3 months to keep an eye on the progress. The goal is to have her as old as possible.
Appointment wise, it's been pretty quiet lately. We did a stint of physiotherapy and now are in the process of a speech therapy block of appointments. Like I posted before, since having the diagnosis it seems like we're just kind of waiting around for something bad to happen and then see the appropriate specialist for that issue.
I'm trying to relish in this rest and be thankful. It is a good thing. She is so content and strong (for her). My bond has grown immensely. I love her so much more than I thought I would ever be able to. Just talking about her makes me smile. We take time every day- multiple times a day- to just cuddle on the couch and soak in each other. Now I'm noticing new people having legitimate bonds with our sweet gal. It's a beautiful thing to watch. When given the opportunity she is able to find a special place in others' hearts and it breaks down some of the walls I've put up around my heart. As any mother's heart you never want to see your child be treated as any sort of an outcast. My own fear can prevent others from seeing the value in children such as beautiful Layla so for that I am sorry. Because I know she is definitely worth knowing.

Staycation

Tuesday afternoon we checked in to Canuck Place for some days of respite. This time Aaron and I are staying in a family suite on the top floor while Layla stays one floor down with 24 hour nursing. There are volunteers through the day who will spend time with her, doing crafts, playing music, going for walks, reading and cuddling.
I'm feeling slightly restless not being responsible for Layla at all for days on end while being so near to her. Distracting myself to recognize that this is short-lived so I must enjoy it. I have been coming and going during the days. Enjoying multiple cups of tea and cookies, reading a book, going for walks and jogs in the neighbourhood.. and sitting in the most amazing massage chair- that even massages your feet. It's incredible. We were spoiled with tickets to the movies the other night and of course not having to worry about cooking meals is a big treat itself.
Tomorrow we will have our yearly meeting with a doctors, nurse and therapist. There comes some nervousness with that meeting but it's actually very beneficial to feel that we are all on the same page.
So thankful for this place.
We went in to the children's hospital for an appointment with Neurology as well as Biochemical diseases. This was the first set of appointments with them since finding out Layla's diagnosis. It's a strange feeling to not be in search of what is causing her to be the way she is. This has been their goal for two and a half years and just like that, the search is over. So now I need to change my mindset for these meetings. It's more about what differences we are noticing since the last time we met. At this point they want to mainly observe and keep an eye on her seizures and respiratory system. We will do a 24 hour EEG test to check for seizure activity. This will help the doctors decide if we should increase her medication because we don't want to see any seizures if possible. Right now she has been still having daily absent seizures lasting very short periods. Then we plan on doing a sleep study to ensure that Layla's oxygen levels are staying in the okay range through the night. I'm fairly confident that they are so I'm not that worried about the insane waitlist for that test.
We have also had to push the appointment with the orthopaedic surgeon from February 2018 to October 2017 because the every 6 month follow up x-ray has unfortunately shown that Layla's hips are getting worse at a decent rate. I'm assuming that surgery is going to get pushed a lot sooner than we originally thought. Boo.. this will not be fun for anyone. The strange thing is that we don't notice that Layla is in a lot of pain with her hips, and if she is, she's not making it obvious. Though, she's always been a funny one to figure out so who knows.

Hospice Life

As I walked out of the children's hospice I looked over at the fireplace mantel, as I normally do. Reading through the names and sending up good thoughts to their families. Not even able to fully fathom what they must be going through. There is always a fear that I will see a name that I know. Canuck Place houses will put the names of children on their program who have passed recently onto the fireplace mantel so that staff will know. They also have a whole protocol for when children are in the process of passing and have passed within moments and hours while in house. I wish I could say I've seen the mantel empty, but I never have. There are children passing daily- long before their time. That is just the way it is. 

This day was the first time I recognized one of the names- I knew it had to be this specific child because I was positive no one else in the program had the same name. My heart sank. I wrote an email to the mother to be sure. And received a detailed email back confirming that it was in fact true and she shared the details surrounding the events. She did not see it coming. She felt like everything had been going fairly well, they were in the process of planning kindergarten for this year and thus completely caught off guard. It only takes a moment. Seems that not all children really let you know. I'm not sure if that is easier or harder than living through more intense pain and sickness prior. I felt compelled to share my positive stories of their child- how they made me laugh and how they were one of the first families we met through Canuck Place. I am so thankful for the few conversations and emails that we did take part in. Another mother (the actual first one we had a full conversation with) introduced the two of us because she thought there were many similarities between our children. 

This passing has hit me a little harder than I would've imagined. The reminder that Layla's days are numbered and there's not a way we can predict when that time will come. There is so much stress that comes with that realization. It is a reminder that there will only be more children who we have grown to know and love that will be passing around us. What a world this is. It can be so unfair.

We are scheduled to meet with the hospice staff for our yearly meeting next Friday. We have to discuss plans for when Layla does pass. Seems morbid but it actually is really helpful for me, mentally. They try and have these discussions when children are (relatively) healthy so you are not making decisions in the middle of a crisis. It just makes for a heavy couple days around it.

This intense information is a good reminder for me to get back into counselling after a few month hiatus. There's been a built up of things that have happened and have been on my mind. It's honestly so incredible how even one meeting can take a chunk of weight off and bring perspective if only for a short time. 

Knowing Vs. Feeling

I don't know if there's any other moms out there that who can relate but I've been struggling with feeling fulfilled being at home #sarcasm. I'm positive that I am not alone in those thoughts. 

The problem is that once my mind has an idea it's so hard to slow it down. I have spent far too many hours and hours online looking at jobs, looking at going back to school, and actually going to multiple interviews.. only to discover that if I'm going to get back out there it's going to have to be a very special job that is flexible to my life. It's been very disheartening. My hours of nursing support are not always consistent and I have to allow for the driving and transition times. Plus there's a chance they might cancel or Layla might have a medical appointment or emergency. Basically I need somewhere that will allow me to work when I can and be okay with switching the shift timings if needby. That shouldn't be hard, right? Wrong. Very hard to come by. And I get it. Why would you want to employ someone with so many priorities elsewhere? If there were many jobs like this, the competition would be hot. 

In my head I realize that my life is busy. Layla has a lot of needs. Every day requires me to be an administrator, a nurse, an advocate etc. But mentally, I struggle with giving myself the grace that I do "work".. the requirements for my family, require a lot more than the norm. 95-100% of the mothers I have met through Canuck Place are unable to hold down a job. Yet my mind continues to shame myself, to say that I'm lazy, and that I need to do more productive things with every single hour of nursing. Knowing vs feeling are so incredibly different. Why are we so hard on ourselves? 

The fact remains that I need to turn my brain off from Layla sometimes. To fill it with some totally unrelated information. And if I can get paid to do that, even better. I do want to be around for all her appointments. But I believe I can be a better mother if I have something small for myself.  The idea of getting out of the house, a change of scenery, to be social and to contribute seem so appealing. We go out and about often but it's only seeming to get harder. Many special needs parents can become bound to their home and I get it. Once the equipment and meds start to pile up, not to mention the weight of moving your child and taking them to most likely an unaccessible place, it often seems easier to just stay home. Thankfully I'm not quite at the point of it stopping us yet, and we continue to make getting out a priority for my sanity.

It comes down to me feeling content and thankful for where I am at. Nursing is never a guarantee and the hours may go down. We're also hoping to get Layla into preschool next year which will be a whole new world. The changes are constant yet sometimes very minute and easily missed. So for now I will keep searching for something that will work within my crazy guidelines and attempt to make peace with the fact that I am home for now but that doesn't mean forever. 

Birthdays

10 days out from Layla's 3rd birthday. This past year has been so much better than I thought it would be. Health wise Layla has been fairly good. She has fought through every sickness. Only one major scare with the grand mal seizures. Of course the biggest news was finally getting a confirmed diagnosis. And the runner up is getting nursing support (which has changed our lives).
I've been on and off trying to think of what to do for her birthday for months. Birthday's are so hard for me. I don't like the reminder that Layla is aging and we don't know how much longer she will age. I'd rather not focus on that. I should be celebrating every day let alone every birthday. Many other parents of children with life limiting diagnosis' do these big celebrations every year, or every month and I should be there too. But for me I'm not there yet.
Age is a reminder of what Layla should be able to do if she was typical. And as she ages the developmental gap is only getting larger. If she was a typical 3 year old she would be able to ask for what theme she wanted, or where she wanted to have it. She would have her best friends there, that she plays with on a regular basis. She would be able to rip open her presents and eat a piece of cake. She could throw a tantrum when one of her friends takes her newly gifted toys. But unfortunately no matter how hard I wish it, that is not a reality. And I need to change my way of thinking in regards to her birthdays. Don't get me wrong. I am VERY much celebrating that our girl has made it another year. Many kids with her disease have not made it as long as she has. And we do have so many things to be thankful for.
Last year family and friends gathered at a big open park. We ate lots of food and played lawn games. It was honestly a lot of fun. But it was also emotional to look over to see Layla, confined to her wheelchair, unable to play along with the kids. Her skin is so fair so we had to keep her out of the sun so she hung out under the cover with the adults, as usual. At that point she was less reactive than she is now so perhaps that'll be a change for us to see.
This year I've been wrestling with what Layla would want for her birthday. I want her to really feel like the day is for her. What is something that she would actually enjoy and get to take part in? At first I thought she would probably just love to be with mom and dad. We looked in to going away for her birthday weekend. I've looked into local places we could go to for a day trip, or we could always do similar to last year with an event at a park. I'm still unsure. Lets hope I can make a decision before the actual day.

PCH2d

"So now what?" I asked Aaron before we got on our flight home Saturday morning. It's a strange feeling to get the information you've been searching for, for so long. Finding a diagnosis was a priority and after a quick week trip to Los Angeles now we have it. There's not a lot we can do with it but it does feel so good to have something definitive, something to say when people ask, something to give us a small picture of what to expect from Layla.

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. 

If you want to read any more information on PCH2 here's a link. 

https://rarediseases.org/rare-diseases/pontocerebellar-hypoplasia/