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/

Memories

The Facebook memories option was a great addition to the site. I love seeing what happened on years prior. Reminders of life and where we've come from. This morning shows me photos of where we were two years ago. Two years ago we were still in for our longest hospital stay with Layla. We went in with her, honestly unsure of if we'd come out with her. It was some of the scariest, hardest times of my life. Standing tall and keeping my emotions generally inside, prevented me from breaking down. There were many tears but there could have been so many more. I had to power through that time, to be the voice for this child that had no voice. I remember being scared to ask for help, scared to let others in to what was going on. I kept hidden the reality out of fear that as soon as I spoke it, I somehow gave it power and there was no way she could get "better". There was a fear that others didn't really care because they all had their own worlds. Which is true in a way, and completely understandable. But I have slowly learned and am quick to admit that I am completely not able to do this on my own.. I need help. There are others who have come into our lives that are able to take on some of the complexity that is our life and I am so incredibly thankful for them. 

Here we are two years later, still with our little girl. She's so much happier and healthier than that point. I am forever grateful to every specialist, doctor, nurse, therapist that has worked with her and continues to. Two years ago we were told our daughter DIDN'T have SMA (A horrific disease which pretty much guaranteed she wouldn't live to see her second birthday.) But they weren't sure what she had, and that they could give a much better outcome. Some of the goals of that month long hospital stay were to get Layla nourished, and to confirm a diagnosis. She had been diagnosed with "Failure to thrive" as she was slowly wasting away, unable to keep down enough food to continue much longer. Countless tests were preformed but unfortunately we left without an answer. Thankfully we left with a new feeding tube which was an absolute necessity to getting some energy and weight back into our girl. 

After two years of continued searching for a diagnosis with no luck we are heading down to the States in just a couple days. Hard to believe this is where we are from where we came. I couldn't have guessed it would take so long to get more answers. Somewhere along my journey I taught myself to not be excited about things. I keep my expectations low so that there is no where to go but up. It's not healthy at all but that's just where I'm at. There's a chance we'll come home with a diagnosis but I need to not expect one so that I won't be as disappointed. Opening up about our world is humbling and scary. But healthy. Helps me not go into a world of isolation, which could be so easy.  

Bless her. June 2015

Two weeks out!

This morning I received all the information regarding out visit to the Undiagnosed Disease Network. Flights, accommodations, transportation and the tentative plan of events. It's strange to feel that this is within my grasp. There is this turning, sick feeling in my stomach- mostly nerves. What will come of this journey? I can't believe the time has finally come.
We are booked to travel on July 1st to July 8th. We have the full Sunday free which is great to be able to relax a bit before the busy week begins. Hoping to take Layla on a bit of an adventure. We need some play within all the seriousness of this week to come.
The flying will be a bit nerve-racking because we were unable to get the seat behind Layla blocked so that her seat could be reclined. In a carseat with her neck collar should be enough support with us beside her to hold her head up for the take off and landing. Then we can recline it for her comfort and breathing or just take her out of the seat and have her lay across out laps. We're hoping to have kind gate agents and flight attendants who will make this all a breeze, allowing extra time and support. I did a trial of her in the carseat upright in the car and I'm feeling somewhat confident that we can make it work. She's so much bigger than the last time she was in it that it's more supportive than it used to be. I considered fighting for more support while flying but with the trip coming so fast I can't risk having to reschedule the whole thing. We will just have to make it work! And I am confident we will.
My phone holds the list of all of the things we need to travel. I have a feeling we might have overweight baggage with all of the formula, meds and supplies. Trying to keep the non-necessities at a minimal.
I wish that there wasn't a lot going on before leaving but of course it's packed full. I think 9 appointments in the next two weeks before going. Sheesh. Thankfully only 3 trips to Vancouver and the rest are pretty local. Ready, set, go!

1 month to go!

With one month to go until the diagnostic trip to the States for the Undiagnosed Disease Network, it feels like there's a lot to sort out. We are so excited but there are still a lot of questions. How do we fly on an airplane with Layla now that she's over 2 and has to have her own seat? I have spent years working in airlines and have seen many people travel that required wheelchair assistance but I have never seen someone with no neck control. My best thought so far is bringing a carseat on board and then having the seat reclined and her neck collar on. Seems easy enough but I know that if they do this, they have to block the seat behind Layla and they will be unable to make that money, does that require paying for an extra seat? I will be calling the airline next week to try and getting everything organized to the best of my ability. Plus, I will make sure to have multiple doctors notes for the special requirements with medications, feeding supplies and seating.
We also need to sort out a rental car. It will have to be big enough to fit her wheelchair in the back which adds to the cost. But I figure since we don't have to pay for our flights nor accommodations we can splurge a bit on the vehicle and get an SUV or something with a large trunk space.
A woman I've been speaking to, through email, has been sharing her recent experience taking her daughter to the same diagnostic testing. It's nice to get an idea of what the week may look like for us. She was very happy that they went and for the information they discovered. Her daughter is required to go back for a second trip- which I guess is something we should prepare for.  The visit sounds incredibly busy. Every day they were at the clinic/hospital from 7am to 5pm and it was jammed with appointments and tests. Struggling to find time to even eat some days. I'll be thankful for the car rental to get out of there in the evenings, find a nice patio to have dinner on and debrief after the long days.
In other news, we were recently approved for extra home nursing hours! This has given so far an extra shift of respite a week and I think we may even get another once I train a new nurse. It came at the perfect timing with a lot of things going on. I was so scared they were going to cut back on the hours because of Layla sleeping more than she used to and being a lot happier. I am reminded of when a hospice doctor told me that as Layla ages and the gap between her and typical kids of her age broadens, you should see more support. This is why it's hard to get help for infants and younger babies because even typical ones have higher needs. Having the nurses now seeing our day to day lives and advocate to their manager for us was a huge help. Plus with seizures and suction added since the last assessment, it shows the need.  
Trying to stay strong, to rise above focusing on how different my parenting role is than the majority can be exhausting. It hits me every so often with these moments where the weight of the emotional, mental and physical requirements seem too much. I'm struck with a grief of what I had hoped being a mother would be, and what my child would become. Seeing other children do seemingly simple things with ease brings a prick of pain to my heart.
So for the sake of keeping things on a positive note let me close with a celebration of something new Layla CAN do. She has been appropriately responding to peek-a-boo. And it's pretty darn cute. We will lift her arm up over her eyes and repeat in an obnoxious voice "Where's Layla?" She will smile and verrryy slowly slide her arm down her face and when we exclaim "There she is!" her legs will kick and she'll let out her big, squeal-y, belly laugh. It's like she's just so proud of herself. And we ARE of her. It truly is amazing to watch this girl flourish. To see a personality come out and reactions to the familiar makes it worth it. I truly love her with all my heart, and more.

Layla attempting to eat my face. 

Rough Week

These past few weeks I've been doing a lot of reading on this potential diagnosis. The genetics doctor has been in touch with me a couple times since we met to discuss how confident she is feeling. She was so confident that she felt we shouldn't even go on the diagnostic trip down to the states. Though, in our most recent conversation she is on board because she found how much deeper they are able to go with exome testing and there have been some changes with Layla. One symptom that a lot of kids with this one disorder have, is seizures. A lot of these kids won't necessarily have them at birth but they may develop a little later on. One girl I read about didn't have any until around 2 1/2 and then they just became more regular until her body couldn't take it and she passed away. Very sad, I know. Just on Monday I had been discussing with a friend how I hope Layla doesn't start to have them.

So then on Tuesday Layla was on the couch and I noticed her one eye was twitching. She threw up a couple times that morning but that's not out of the norm for her. Then we went to music therapy. Her eye was more drooping at that point. As usual, when the therapist went to strum her guitar, Layla went to do a big smile. The only issue was only half of her face could smile. It was as though she lost control of the one side of her face. The strange part was it was opposite to the eye issues. We were at Canuck Place so there was a nurse on site, able to come take a look. At first, she thought that Layla was possibly having a stroke and suggested we get to the hospital right away. Thankfully this is right beside one so we walked across the parking lot to the ER, which was completely packed but they took us in right away. Fairly quickly the doctor suggested that Layla was having a series of seizures. They went to take some blood work and I told them how difficult it normally is. They had to do multiple pokes but Layla didn't even react. She just wasn't present anymore. When her paediatrician walked around the corner, on call, I was so thankful I wouldn't have to go through Layla's full history, trying to explain her baseline. She sat beside me and I explained the details of the day. She said she agreed that Layla had most likely been having a cluster of seizures all afternoon. As we were discussing it, I saw Layla's opposite eye start twitching like crazy and then more areas of her face and body. Then she started frothing and throwing up blood. It was horrific to watch. Aaron had left shortly and come back in the middle of this scene. We were both in shock and so scared but survival mode had to set in for the time being. Three nurses were trying to get an IV in anywhere they could (again, not easy), a couple doctors were discussing meds because it wasn't stopping and in fact it was getting worse. They tried dissolving meds orally but she just threw them up. Then they tried to give it through her muscle-still didn't work. Next was a nasal spray. This made her calm down a lot but the body still twitched. Finally the IV was in and they got another seizure/sedative med into her. Slowly but surely, she calmed down and then was completely passed out. This big seizure lasted for over an hour! To put it in perspective, a typical seizure will last 60-90 seconds. 

     We could breathe, at last. 

Layla slept for over 12 hours. (She's never done that in her life). The fear then was, what will she wake up like? It's to be expected that after all the meds and the seizure itself that she would be exhausted. Here we are 3 days later and she's still more lethargic than normal. We spent two nights in hospital. Ran some tests and chatted with some doctors. We decided to just come home with an emergency seizure medication and not put her on regular anti-seizure meds, yet at least. If she has another seizure episode again, we will. The information from our stay will be passed on to the neurologists at BC Children's and we will likely go and meet with them fairly soon to discuss the events and a plan for the future. The good news in this is we might be able to get confirmation on the part of her diagnosis sooner, an the MRI pushed as well. Fingers crossed. 

Today is our first day home and I am completely exhausted. Emotionally and physically. It was just a lot to take in and so hard to watch her not in control of herself. I really hope this isn't going to become a regular thing. I'm incredibly thankful to have Layla home and that she seems herself. How did this happen so quick after we had been discussing this? Why couldn't she just have a 90 second one to start? Why did it have to be all afternoon and that traumatic? Cheers to a quiet, non eventful weekend.. and a glass of wine. 

This is Layla getting the EEG test done. 

Blindsided

Waking up yesterday Layla and I hit the road nice and early to make it in to the hospital for another routine appointment. After a fifteen month wait we were going to see the genetics department. I assumed that they were going to be like every other specialist lately "We don't have anything new, but we'll be interested to see her when you get back from the diagnostic testing in the States." Especially since this was the first time meeting them, I assumed that they were going to just want to hear her history and where she's at today. I was wrong. Well partly. We did go through Layla's history from conception to current. But to my surprise they had two different discoveries from her exome sequencing study we had done last year, that may be a lead to her diagnosis.
I'm not going to write down the two diagnosis' until there is confirmation. But I'm not going to lie, the symptoms described sound a lot like Layla.
**Flash back to last week when we met with the ophthalmologist whom we see every six months. He was puzzled by Layla's vision and mentioned that he doesn't feel like she fits solely into the cortical visual impairment (issues with the communication between the eyes and the brain) "box" because of her nystagmus (eye shaking). He said "I think we could be dealing with a dual diagnosis here". **
Could this be it? Could this be the answers we've been searching for, for over 2 years? 
The uncertainty is still frustrating. I would like some concrete answers. But alas we stay in limbo land. The hardest part of processing this new information is reading the things she will not do with certainty, that there is no cure and of course the short life expectancy. Even though this is something we've been told for a long time.. it's never easy to hear or see it written on paper. If it's all true, it takes away the hope that maybe, just maybe, she could surprise us. In the undiagnosed world I have often thought of the worst but still hold onto a bit of hope because there was no proof.
At least there is some super long title to tell people when they ask, something to research and I can try and connect with others going through the same journey. Perhaps the world will be less lonely. Plus, I've been told that government help steps up with a diagnosis (who knows if that's true when it's still insanely rare). That would be nice though.
With these dual diagnosis' being auto recessive if we were to happen to get pregnant again instead of just being the 1 in 4 chance of recurrence for any possible children.. it would be 1 in 4 chance for each diagnosis. We had assumed that we wouldn't have any more children together but haven't actually taken that option fully away yet. We wanted to wait until the visit to the States. This information would make the decision for us.
The doctor asked that we give her three months to go back into and deeper into the exome sequencing on us all. They will specifically be looking for proof on these two diagnosis'. We have to hope that they won't need more funding because that will stall the timing. Last time we had to wait 6 months for them to apply for $10,000 from the government to get testing done.
This genetic doctor said that with this information coming up, she believes going to the States isn't going to give us the results we are looking for. She thinks that they are the closest to a diagnosis and because we've done so many tests already, there isn't anything new they will be able to find at UCLA. That being said, she was making sure this trip isn't going to be too hard on us. She agreed that nothing bad would come of going. She just didn't want me to go there thinking they will solve everything. And it's true I have held onto this experience very tightly, believing if anyone can figure out a way to help our daughter it would be them.
After mulling it over for the past day and a half, I still want to go. We have been waiting for so long, along with almost all other specialists to see what they have/will find. And I would kick myself if we missed out on any information. Plus it's a paid trip to California so I can't really turn that down. :) I guess I need to just lower my expectations. If anything I will meet some crazy smart people, make some connections and get Layla's second MRI that is still over another year's wait here in Canada.