Reflection

Well, it's that time of year again. Time to reflect on what 2017 brought us and what will come of 2018. Until designating time and energy into to look back I didn't realize how full this year was of life changing moments.

-Seizures were brought onto our radar. In April Layla had a cluster of many seizures including a grand mal seizure lasting over an hour. We were fearful that she wouldn't come out of it but I thank God that we were already at the hospital for this event and with multiple meds they were able to get her out of it. It was a very scary, eye opening day for us. We realized that seizures had been happening for a long time but we were unable to recognize them, and didn't know what to look for. This is an ongoing issue and regular meds have since prevented any major- long lasting seizures. There is a high chance that we will see increased seizure activity at some point but we are thankful that they are having minimal impact for her day to day activities. 

-Aaron went through a career change. It was a tough decision for him to move out of what he went to school for but it was the right change and he is in a much better work environment than he had been. 

-We went on the long awaited UCLA trip with the Undiagnosed Disease Network. There the Doctors confirmed Layla's diagnosis of Pontocerebellar Hypoplasia type2d. I wish that this diagnosis came with a treatment, that there was a way we could extend our time with her and how limited she is while with us, but unfortunately the prognosis isn't good. Our priority is to keep her as happy as possible (which she's been doing very good at lately), enjoy what time we have and now we can better make decisions with this information in mind. It has been a strange transition to be done with diagnostic testing but that has brought less poking and prodding and a little more peace.  

-With the help of many generous people within approximately 8 months we were able to fully pay off the wheelchair van. That blew me away. When we started the initial applications, I never saw that possible and it wouldn't have been without our generous community of people. This van has been a lifesaver. 

- We sold our first home and moved onto a second one that is better suited for Layla's needs. It's been a slow transition for me to bond to the new house but it's getting better. 

- And in bittersweet news we made the final decision to not attempt to expand our family naturally. The risk of recurrence was too high and we are not gamblers. We both knew that we weren't done with having kids. Our hearts have been broken and pieced back together many times over the past few years in this area. Attempting to prevent bitterness and anger is hard at times. Life is not fair. We all have these sensitive areas in our lives. Instead of focusing on what I cannot change I try to focus on what we do have control over. I knew that if the two of us gave up on having another child it will only add a wedge of sadness. So last January we met with an adoption agency. At this point we have fully completed our home study and are on the waitlist to bring another child into our lives in a different, yet still very beautiful way. We are trying to be patient through the very long and slow process. It will likely be another year or two before we bring home another child. For now, we will focus on Layla. We want to work on making the house exactly what she needs by adding ceiling tracking and a roll in shower when we can. And try and save as much money as possible to go towards this costly decision of international adoption.
A lot of things are out of my hands at this point and I'm working on trusting that I have done the best with what I have and the rest will work itself out. Looking into 2018 I already have a growing list of things to sort out. But I am more confident these days in the great team of support around that it will not be fully put upon my shoulders and for that I am thankful. Cheers to another year.

Moving day

Big change happening around here. We will be moving in a matter of two days to a new house. It's been a very long road considering. Back in April we made the decision to put our house up for sale. We had only been in our house for a year and a half at that point but we were already starting to realize how big Layla was getting and nursing staff were starting to mention how they will hit a point where they are not allowed to carry her up and down the stairs. Unfortunately, there is no way to build a bedroom on the main floor and not enough space (nor money) to cover getting a lift or elevator up to the where the bedrooms are. So we listed. We had offers fall through on our house which made offers fall through for us to make other new houses- there were so many road blocks. It was very discouraging. We continued to update our pros and cons list but knew this was a necessity. Finally, just over a month ago we had an offer on our place stick. The house sold but there was no where for us to go. Plans were made for us to move our things into storage and stay with family while searching for the right place. It wasn't ideal but it would work. Then a week and a half ago we found a vacant house that we deemed worthy of an offer - had a few back and forth offers until they accepted. The best part is that the transition will be smooth. Thank goodness. The new house is not perfect but it hit 80% of our wants/needs so we're happy with that. We will still have to build a ramp off the back side of the house to get Layla inside but once she is inside the bedroom and bathroom are on the same level which will make life a lot easier. The back yard is big and beautiful. The neighbourhood is great- fairly flat for walking. There's a nice elementary school within walking distance. It's minutes away from where Aaron plays soccer regularly. It's closer to his work, our friends and family. There's a lot of great things though right now all I can think about is the piles of boxes surrounding me and the imminent move. Just gotta get through this weekend.
A quick note on Layla's progression. She's been doing a block of speech therapy and it's been really cool to see unique ways that we can get her to communicate. For the past four weeks we have been using Layla's vision as a way to communicate "more". We will hold up a toy that she likes, that plays a jingle, once played we will move it just out of her line of vision and ask if she would like "more?" if she moves her eyes to find it we will take it as that she wants it to be played again. So simple but she's doing it! It's the basic steps that will take her towards choice making. We have been using specific items for object cues to help her know what is coming up next. One cue is a red cloth. I will say "It's time for a bath." and then give her the cloth. Let her touch it and hold it for a while as we make our way to the tub. Soon we will decide on an object to represent going for a walk. Eventually we hope these items could be held up and she could be given the option to choose which she would like to do and then use her eye sight to choose. It only seems right to let her have a voice and an opinion in what she does.

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/

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.

Negative Nancy

Today is a bit of a negative Nancy day. I'm allowed, right? We just got an x-ray done of Layla's hips for the hip surveillance team at Children's to keep an eye on them and make sure they don't dislocate. Every 6-12 months they will take x-rays to see how they are developing. According to her pediatrician and physiotherapist because she is not putting any weight into her legs there will most likely be hip issues. If they can catch it early there are some less invasive measures they can take to try and avoid surgery. Which would obviously be a better option.
Then spoke with GI specialist about the results from Layla's PH level test. She had a probe placed through her nose and down into her stomach. For 24 hours we monitored how often she puked, coughed- showed signs of reflux, when we had her laying down, more upright etc. The doctor said that she actually showed in the near normal range for reflux. That being said, she is on multiple medications for reflux and so they are obviously working. But why is she still throwing up and gagging throughout the day? What else could be causing this if it's not reflux? Is there something we're doing wrong? 
Ugh. It seems like so many of these medical tests have come back fairly normal with her. Which should be a good thing, right? But to me often, it's not. I feel like I'm just searching for something anything that can give an answer. It's been a while since we learned any new, helpful, information. Multiple specialists now have met Layla, done one or two tests and then discontinued follow up because they didn't find anything that could be explained. Every single test could come back "normal" but obviously, she is not. Anyone can see that. This anger totally stems from living in the undiagnosed world. Will someone just give me some answers and better ways to support her!? Your job as a mom is to do whatever you can to watch and help your child succeed. And I'm incapable of that. I want so badly to help her. There's still this tiny part of me that dreams there is something out there to make Layla like a typical 2 1/2 year old. Some magic pill that will cause her to be able to sit and run, talk and eat. It's a pipedream, I know. But it's there. I think it always will be. No matter how much I love her, as her.
Sort of switching subjects, we did get a call from UCLA about the undiagnosed disease program. They are finalizing the schedule for when we go down there. In the next week or two, they will get back to us with the plans and look into dates that work for everyone. My biggest fear is that we will go there and come back with nothing new. That they will say what so many others have, she is inexplainable. There's nothing to be done and they have no idea what her life may, or may not, look like. And that we will sit, in this unknown. This trip couldn't come soon enough. I need it to come before I give up. This is the last straw. If we don't learn anything new and helpful.. I'm done putting in as much effort as I have in the past 2 years. I won't be able to handle that stress anymore and I'll have to figure out a way to fully come into acceptance.

Look how big she is!? Sporting her new wheelchair, complete with matte purple pieces. 

More bloodwork..

Almost 4 months ago to the day we were told about the possibility of Layla having a mitochondrial disease. We have been waiting since then on funding approval to further look into if this might be where Layla's diagnosis lies. This morning I received a phone call that the funds are now available and we can start down this rabbit trail. Layla and I have to go get, yet again, more bloodwork done next week and this time it will be sent to a lab in Atlanta. Thankfully they are letting us get it done locally so I don't have to do the drive in and out of Vancouver. We will go to the Mission hospital where we had a good overall experience last time (when is bloodwork actually good, with a 2 1/2 year old). Hopefully we can have the same group of ladies helping us out. Last time it was only a matter of 5 minutes before I was able to get the smiles back on Layla's face.. in between sobs.
I'm happy to hear that the biochemical diseases program at BC Children's is still wanting to work with us evening though we've been accepted to the Undiagnosed Disease Network in the states. I had been feeling a bit like we were passed off to someone else and they weren't willing to do any more until we've completed our stay there. So that is encouraging. Any progress is good progress. Whether it is eliminating or discovering.  
Shortly after we were told about the mitochondrial possibility, we started Layla on a few new vitamins to see if they would help give Layla more energy. And I honestly do think they have helped. She had a set back with being sick for an extended period this winter but overall she has had more energetic periods through the day than ever before. She is so much more alert and active. She seems to be recognizing familiar songs, voices and activities.
Yesterday I picked up Layla from a four night respite stay. We took two nights to have a getaway of our own up to Okanagan. It was so relaxing. We visited a few wineries, went snowshoeing and relaxed at the resort that had a bunch of steamrooms, saunas and a gorgeous infinity pool overlooking the lake. We were in bed super early both nights, got an opportunity to work out at the gym, have peaceful, delicious breakfasts. It really was good for us. But the biggest change I noticed for me was that I actually wanted to pick up Layla early. I missed her that much. In the past, I've been so exhausted from caring for her that I longed for that time away. It was such a necessity. But this time, I really wanted to have her back. The van felt empty with out her, the house seemed weird. She is just so much more enjoyable to be around these days. I wish I could've had these feelings a lot earlier on with Layla but either way, I'm thankful for them now. 

Becoming Human

I just finished this book called "Becoming Human" by Jean Vanier. Jean is the founder of L'arche, an international network of communities for people with intellectual disabilities. I highly recommend it for anyone interested in a new perspective on people with disabilities.

"So many people with disabilities are seen by their parents and families only as tragedy. They are surrounded by sad faces, sometime full of pity, sometimes tears. But every child, every person, needs to be celebrated. Only when all of our weaknesses are accepted as part of our humanity can our negative, broken self-images be transformed."

Whoa.. it's so sad but speaking from personal experience, so true.

Sometimes I will feel sorry for myself and all the extra responsibilities it requires to care for Layla. When overwhelmed with appointments and simple tasks made difficult such as having to carry her up and down the stairs, and consistently entertaining her, I get frustrated. It's quite selfish, really. Focusing on how bad this is for me. But lately, it doesn't take long before I have these "a-ha" moments, where I take a step back and look at how far she's come. I'm so thankful for her and her personality. I'm trying really hard to celebrate her on a regular basis. She deserves to be celebrated.

Unlike a typical two year old Layla needs you to present opportunities to her. She is not able to grab your hand and pull you over to the toy she wants to play with. If not given the opportunity she would be fairly content just laying on the couch over your lap, if you acknowledge her every so often and hold her hand. BUT given the opportunity to do more, we are seeing that she is actually quite a bit more capable than you would think. For example; we have sung head and shoulders to her since she was a small baby. I think she enjoys having other people move her limbs for her because it is so difficult to do on her own. In the last month or so, if you go through the first verse -"head and shoulders, knees and toes, knees and toes, knees and toes.." and then stop and wait, we have noticed that sometimes she will start to move her hands up only the slightest, to try and get them up towards her head and let us know she wants to continue. This probably seems so small, but I think it's truly a miracle. At first I really doubted that that was what she was doing (and sometimes I still doubt) but I've begun to decide that it is important for us to encourage and believe in her. What harm is it if I'm incorrect? Maybe it is an involuntary movement. But how encouraging is it when we do believe? Who knows what is going on in her brain development?

I saddened for others who don't get the opportunity to see her in her elements. When she's at home and laughing her head off at my fake cough, or smirking at the wind blowing on her face as she pull the fan from her toy. When she looks you in the eyes and smiles... there is nothing like it. Life has not been easy for her but it's only getting better. With us taking that extra step to think of what we can do to help her communicate and be involved in whatever everyone else is doing I want to see her flourish. May she teach me to love more, have more patience and just be a better human being. 

Watch a movie with her cousin :) 

New Year, new generosity.

Happy New Year. First post of 2017. I'm actually excited for this year. I feel like a lot of good things are going to happen. With 2016 ending fairly positively in our lives, it has given me hope for a season of rest and allowing some hard work to be paid off. Layla has been doing so well lately. Sleep has been fairly consistent with a 6-7 hour chunk at night.. whoot whooot! That alone makes a world of a difference.
Layla has stayed so healthy through this winter, knock on wood it will continue that way. She barely has had colds and NO hospital stays. Last winter, I swear she was sick the whole time.
Next week we're getting trained on a suction machine to have around the house when Layla is choking on her secretions or vomit. This will help take away the stress for her and us when she is struggling to get these liquids out of her mouth and throat. These episodes have been a bit more scary the last couple months.
We have the van in our hands which has been a total life changer. We are so thankful for everyone that has given toward this van. Never will I forget the generosity of others because I will look at the van and know we couldn't have done that on our own. The plan is to pay the van completely off in the next couple months. The Salt Spring Island Driftwood newspaper just printed a story about the need for our van. Plus, the second burger and brew at the end of this month should bring us pretty close.
In other news we were chosen by a family, through Canuck Place, who recently lost their 9 year old son to be given a pretty fancy hospital bed (we're talking $10,000 fancy). Obviously it's horrific what they have been going through in the last couple months... and it hits a little too close to home.. but they are so generous in deciding they would give away his equipment to other families. They said they understand the need and cost involved in raising a special needs child and couldn't imagine trying to make money off of those things. The bed is coming from Kamloops and at first we were quoted $800 to have it delivered by a moving company. Which was really disheartening.. but then she posted on a community site and a company that was coming down for a conference in Vancouver said they would attach their trailer, pick up the bed and deliver it FREE of charge. Wow. Again, communities are amazing. They are dropping off the bed today! Fingers crossed they can get it up all the stairs (we really didn't think that through when we moved in almost a year ago, I mean Layla was so small and light still then). The bed is 250lbs. Another heavy thing to add to our home. But this should only help with sleep. Having the electric incline for the head and foot will help Layla be the best supported through the night and help keep reflux at bay. The mother told me it made the world of a difference for her sons sleep.
Layla is getting a new manual wheelchair in the next couple of weeks.. which will make transportation even easier. Then in a couple of months we will be having the trip to UCLA... I feel like the list keeps going.
I'm feeling some peace and joy in my heart that I haven't had for a while. And oh man, I hope it sticks around. What else will 2017 bring?