The past few months...

The past few months I've been waiting to get a calm moment to update on everything going on with Layla. The calm hasn't really come, and changes are happening on the regular. But I'll do my best to fill in where we're at with some of the big updates.
Three weeks from July into August Layla spent in the hospital for something we never got concrete answers for. Pneumonia, a UTI and some kidney stones were discovered but they didn't explain why her infection levels were so high, causing her to be basically comatose and continued to rise despite  multiple antibiotics. Eventually she turned around and we made it home mid August. One week later I stepped out to go on a short hike with a friend when my nurse called to let me know Layla was seizure and she couldn't get her out of it with the meds and support we had at home. Not wanting to stay back in the hospital so soon after the last long stay- once she was out of the seizure and recovered Canuck Place offered to have us come stay there and have her monitored until she felt more stable to be home. We tried very hard to be home before her fourth birthday but that didn't happen. The seizures continued to be hard to control. Some family came out to Canuck Place to celebrate. It was small and nice to have them see where Layla has spent so much of her time this year. Nurses covered her in balloons on her birthday morning and celebrated our sweet girl and the big deal that turning four is for her. The doctors added more meds including trying cbd oil. These didn't take away the seizures but slowly they became more manageable and after a couple more weeks we were home.
Exhausted, but home. We needed a break. So we booked a holiday. Might not seem like the best idea, considering where Layla had been but it was a necessity. Aaron and I just wanted to be in a place where we didn't have to think about much.. just decisions on pools, beaches, food and drinks..ohhh Mexico was wonderful! And even better that Layla behaved while we were gone. Though this trip seems like a lifetime ago.. only a month ago but I could use another one. I'm not sure how to make my reality where I go on a trip once a month. I may even settle for every other.
Given everything Layla did not start preschool in September. It was a bit sad but we couldn't just throw her to the wolves.. and by wolves I mean small children covered in germs. In the spring we will have to decide if Kindergarten is the best option or to keep her home another year. The social aspect was my main priority when considering school. But we're fortunate to have lots of close friends and family with kids who Layla sees on a pretty regular basis. In a less structured setting we are able to decide when Layla has had enough, needs to sleep and what she can participate in. It's nice to keep that control a bit longer.
Layla's hip surgery finally got booked. Later than I had hoped but it's on November 27th. The pain has become much worse recently, really highlighting the need. The pain meds she was prescribed have not been enough and it's harder to predict when the pain will come. So she has just started some much stronger opioids to try and keep her comfortable for the next six weeks while we wait. While under anesthetic for her hips a general surgeon will place a VAD port which is a permanent direct access spot for IVs and bloodwork. I've written multiple times about how hard it is to get a vein in Layla, even on her best of days. Back in March we had a very traumatizing experience when she needed to have three drills in her bone for IV access. By having this port placed, we won't ever have to do that again. Thank goodness. Our hopes and prayers are that after the long recovery from this surgery Layla will have less pain, less seizures and will be given a bit of a break in the new year. 

New Normal

Well the good news is Layla has been out of the hospital for an admission for almosstt 2 months. For that I am thankful. I’ve been letting the time pass to see what would come. Would she get better, worse, stay the same? What would become our new normal? Unfortunately, our new normal includes daily seizures. 

From February until April she would have one crazy day full of seizures, go into the hospital, get the interventions needed to bring her out of it, rest for a day and then recover to herself for a week or two before the next one would come. Since May, they have been less aggressive but predictable and consistent. And to be honest it seems even worse. We don’t get a break. Her quality of life is going downhill. Even these consistent ones used to last a quick 30 seconds at a time. She’d be tired and sleep afterwards and then back to herself. In the past few weeks they've been lasting between 15 to 45 minutes at a time. Then they are just wiping her out, energy wise. Hours out of the morning and evening she is not able to give us what she used to be able to. All therapies have been suspended for the time being. No more physio, OT, speech or vision therapies. (Of course, keeping her favourite-music therapy) We have cut back on our outings and visits because it’s just not worth it. This past spring we were planning on making a cross country visit to Ontario to see family and friends but she’s not stable enough. We used to take pride in the fact that we would adventure out and take Layla all over the place. It’s hard to feel like that is not practical or even safe anymore. Home is where she needs to be. 

A side effect of one of her seizure meds is increase secretions. This has made it difficult for Layla to be upright in her chair because quickly the secretions go into her chest and sit there until we are able to do some chest physio to try and break it apart for her to cough it out. Laying on her side on the couch helps her drool them out and is the most common position lately. This was one of the many reasons her feeding tube was switched from being a G tube (which goes directly into her stomach) to a GJ tube at the end of May. This tube now has two ports. One goes into her stomach and the other one bypasses the stomach and goes into the jejunal portion of the small intestine. Feeding into her intestines helps dramatically with reflux. We are able to drain her G port (stomach) into a bile bag during the day and night, which is helping with increased secretions. 

Recently the Abbotsford hospital called me to set up a meeting with the local professionals in Layla’s life to come up with a plan for when Layla is brought into emerge. It brought up some hard conversations but overall will be very beneficial to us all. The paediatric floor is training to give her seizure rescue med. This means we shouldn’t be left with the responsibility of being directly by her side 24/7 while there. Together with a few different doctors, we are coming up with an algorithm for how to treat Layla when she shows up at the hospital seizing as well as if they transfer us to BC Children’s. Attached to her name and care card will be this algorithm so they will not follow normal protocol and testings. Our priority is mainly comfort care. We do not want Layla to go through what she did back in March with multiple IO’s, central lines, intubation. It was traumatic on everyone involved and does not line up with our values for our sweet girl. Hopefully with this information in the hospital’s system we can keep things as pain-free as possible. 

Next Tuesday we will meet the epilepsy neurologist. We were supposed to see her last Tuesday but the appointment was pushed. I have two nurses and a Canuck Place doctor coming with for support to this appointment. They have all been around to witness what has been going on the past 6 months for Layla. Hopefully this appointment with give us some guidance about where to go from here and what changes can be done to give our girl the best quality of life. We have to decide how much medication is worth it. Finding the line between how many seizures we will just have to be okay with while keeping her not sedated is the main goal. 

Then at the end of this month we will meet with the surgeon to book Layla’s hip surgery. We’ve been putting it off a long time and I kept thinking that we needed to see some stability with the seizures before considering putting her under but with the right hip being 100% dislocated it needs to be fixed. Her doctor has said that a goal of being seizure free is likely unattainable at this point so we just need to make her as comfortable as possible. 

Mentally it’s been a bit of a struggle for me. I’m finding it very difficult to focus and look much further than a few weeks in the future. That mentality isn’t anything super new in my life but it does feel like my brain has been especially foggy lately. We’re trying to plan for preschool this fall. Layla's turning FOUR!? Which should be a very exciting time. I just changed her from the morning to the afternoon class because the mornings have been a fairly consistent write off. But now if she has the surgery, that will be a pretty lengthly recovery time. Add in the seizures and I’m really not sure if it’s worth it. A nurse will attend with her if we decide it’s the right direction to go. That brings a bit of peace of mind. But who knows. It'll have to be a last minute call. 

That’s what’s going on in my world with Layla. A lot of uncertainty but as always, a lot of love.

Wish Granted

Because Layla had been discharged from the hospital for only one week before going on a plane to Hawaii for her Make-a-wish trip, we were slightly nervous to travel- to say the least. The great news is that Layla had such a fun first four days. The Aulani Disney resort was incredible. I was so impressed with all the staff, and how they treated us like VIPs. They went out of their way to make sure that Layla could participate in all that we wanted her to. We were upgraded to a nicer, higher up room with a gorgeous view of luscious greenery as well as the ocean shoreline.  It really was the perfect spot for a getaway from the craziness that the last couple months has brought. One of our highlights was when we went for a private meet and greet/photoshoot with Mickey Mouse. He did such an amazing job interacting with her. She was laughing her head off while melting his heart and ours. Another favourite was the lazy river. Layla was allowed to go on a tube being held by one of us.
Aaron and I were fortunate enough to sneak away for a spa afternoon. Before and after our massages we were able to make use of a relaxing area with different pools, showers, saunas and snacks. It was so peaceful. Obviously, the actual massage was my favourite part. Did not want that to end.
By day 4 we realized that she hadn't had a bowel movement since we arrived. This was the start of things going slightly downhill. Once that was dealt with, we all assumed things would go uphill. Unfortunately this was not the case. Every time Layla was overstimulated she would throw up, have a seizure, or both together. It was really disheartening. The extra events that brought so much joy were turning out to send her over the edge. One event we were really looking forward to was "movies under the stars". They put Coco on a big screen one evening and everyone sat out on the lawn to watch it. She laughed her way through the previews and then as soon as it started she was overwhelmed, had a seizure and puked everywhere. The staff ran to grab towels while our nurse suctioned her and then we had to make our way back to the room to clean her up and calm her down. One of the employees snuck off during this and grabbed a copy of the movie for us to borrow and watch in our room. (didn't get a chance to, but the sentiment still meant a lot). We tried taking her to a luau the next night, after a quiet day. She laughed to begin with and then laughter turned into seizing. It was clear she just couldn't handle much.
The last three days we kept her in her room for 90% of the day. Having a nurse travel with was so much more important than we realized. With her there we still all got opportunities to enjoy the location and resort even with Layla not doing well. The evenings were all cut short because of seizing or throwing up and we ended up back in the room. Once there, if we got her to sleep she was able to recover and be back to herself for some good chunks of time. Extra thankful for the room upgrade for the time we spent there.
Friday morning, the travel day back home, we were all packed up and ready for the bell boy to bring our bags down to the lobby. As he knocked on the door she started throwing up, we started suctioning and had to grab a new outfit for the plane ride. The 3 of us adults were all on edge. Down in the lobby, as we were checking out, I looked over to find her seizing. Bringing her to the side for some privacy she seized again. I got Aaron to call Canuck Place and get their advice. She seized for the 3rd time. I gave her rescue med. They said we would not be approved for travel and that we needed to go to the hospital. By the time we arrived at the hospital she had relaxed and been seizure free for an hour or so. The doctor saw us fast but we had already missed our flight. He looked at us knowing he didn't have a history with her and basically just trusted our opinions asking what we wanted to do. (P.S. I think we deserve to become honorary doctors). After giving her some seizure and nausea medication we decided to head to the airport and were switched onto the overnight flight home.. 8 hours later. The check in counters were closed so we lugged all of our 7 bags to the only air conditioning pre-security which was by the baggage carousel. 5 hours pre flight she had another seizure. Normally we would only give her rescue medication if she had a longer lasting seizure or a few in a row but we just needed to nip these in the butt so we gave it right away. I didn't want to call back her doctors because I knew they would just say to get back to the hospital. The nurse said in her professional opinion she was unable to advise us to get on that plane. I felt sick. Bouncing pros and cons and worst case scenarios off each other we came up with what seemed like the best plan. We agreed that if she seized once more we would call an ambulance. During the week we had given her gravol twice and both times she had fallen into a deep sleep fairly quickly. The executive decision was to give her some more right before the flight and just pray she would sleep most of the plane ride back. The nurse, Aaron and myself didn't sleep a wink because we were so worried of what could happen on board. Between a solid rotation of seizure meds, advil, tylenol, melatonin and anti nausea meds she slept the ENTIRE way! My heart jumped when the wheels touched the ground at YVR. At least now, if anything happened we were with doctors we know and near home. A few hours later after going through customs, getting our van from the park and ride then driving home we arrived through our doors at about 10am. By 1030am, she started puking again, and within a few hours the puking turned to seizures. At 4pm we couldn't control them at home anymore, called an ambulance and we on our way back to the hospital. They got an IV in faster than normal and she was on an anti seizure medicine drip which got her out of it relatively quickly. We begged them to not transfer us to BC children's because it's just too far from home and we hadn't even been home. Thankfully they were ok with it as long as one of us stayed with her and just consulted with neurology over the phone while treating her locally.
4th Hospital Admission in 8 weeks.
I know this all sounds incredibly overwhelming.. and it is. I feel like we're just going on fumes, surviving each day and waiting for the next emergency. But there are some positives. I am amazed at how well my gut served us. The timing was so good, things could have gone a lot worse. We only spent a couple hours at the hospital in Honolulu. If we had gone back after the seizure at the airport we would've had to stay another few days to week.. in a hospital where we are foreign and unknown. But instead we made it safely to our home and to a hospital that we have grown to know quite well the past couple months. Silver linings are somewhere.
Now, Layla's been home from this past hospital stay over a week. Running through all of the events the past while it seems obvious that she is unable to handle overstimulation anymore. Even a trip to Costco is seeming to be too much for her. It's difficult to accept because we have been really thankful the past couple years that she has been flexible with being social and taken everywhere we would like to go. She was our party girl. Coming alive in the evening. Times are changing and we will need to keep her home more. I don't know if preschool will be in the cards anymore this fall. We were hoping to get her out and about with other children but not sure if that will be possible. If we're lucky, this is a short faze but my instinct is saying that it will be our new normal. Yesterday and today we are back on edge with a few seizures and her being "off". Staying in, resting helps. I'm also so thankful that through everything this girl has gone through, she always finds ways to smile. It would be so much more difficult if she was unhappy for the in between time.
Even with the way things ended up I am so happy we got to go on this trip. We were very fortunate to be given the opportunity and some good memories were made. It still felt like a bit of a break from reality and the fresh tropical air did so much for my soul. It's lot better than hospital air, that's forsure. Here's some shots of our princess in paradise.

Third time is not a charm.

Here I am, three traumatic seizure episodes, gone rogue in the past five weeks.. There has been three weeks of living in the hospital in Vancouver. Three weeks of trial and error with Layla's seizure meds. 

It is agreed that this is most likely disease progression and not because of a virus. We are hopeful that adding an additional seizure medication will help keep them under control. I am skeptical and believe I have good reason to be. My fear is that we will go home again, have a decent week and then will be back here again with the medications not working. Unfortunately these medications are not ones that are able to be switched quickly. It's a slow increase, and slow decrease with any modifications to decrease the chances of side effects. 

The crazy thing is how well this girl recovers in between. Not complaining but still, it is strange. She seems completely herself. Smiling and limited little seizures when all of the sudden the big ones come out of nowhere and go south quick. Talk about keeping us on our toes. I completely understand that Layla has a very rare disorder that not a lot of the specialists know about but boy would I like someone around here who can discuss more about the disease. It often seems that the hospital's goal is to make her stable and once they've done that, they figure the job is done. 

I have to give major props to the emergency trauma team at the Abbotsford hospital because they have actually done all the hard work of getting her out of status epilepticus. I just like saying that word. Though I don't like when it happens. (That's when she continues to have back to back seizures without regaining consciousness in between.) When they had to intubate and give IOs and add a central line, we were very appreciative to them for explaining what was happening, and why they needed to do it. They kept checking if we were ok, or needed to step out of the room for the tough stuff. We understand that Layla is a bit complex for the paediatric floor to often deal with her but it's nice to know that we have in our own community some great medical help in an emergency. 

Our current neurology team has unfortunately not been overly helpful. They are not keeping us well informed and I'm not sure what is happening each day. On the weekend we made a bunch of plans with the neurologist and we were very happy with her ideas and hypothesis. Only to have a new team during the week who decided that none of these things needed to be done. We voiced our concerns and were able to get Canuck Place doctors to back us up and be another voice but it doesn't change the head neurologist on duty for the rest of the week. Yesterday morning I assumed we were going home, only to be told the new goal was to get her an MRI before leaving the hospital. I was actually very excited about this because we are still more than 9 months away on the waitlist. By last night they said that now wasn't going to happen and we'll have to wait for a booking at some point in the future. Then late last night she was referred for a 24 hour EEG this morning if the technicians had time. Which we just had done a month ago so I'm not really confident that it will be that helpful. Now she is hooked up for that but the technologist said there was a note saying she was going home. They were confused as well. Glad I'm not alone. Lack of sleep and a mushy brain are partly to blame in my fuzziness. I just don't have the energy to fight hard right now. I do want to go home. Especially if I am not confident in the supports we are receiving here. The latest news I just received is that we will complete this 24 hour EEG and tomorrow once they take all of the leads off her sweet little head, they will see if there are any cancellations for an MRI and she will take that spot. If not, then we are looking at the holiday weekend and will be discharged.

Close friend's started a Go Fund Me account to help us with parking, missed work, accommodations, food etc and we are overwhelmed with people's generosity. At least one area of stress is able to stay down. Thank you to everyone who has given, and sent good thoughts and prayers our way. We are eternally grateful. 

We really hope that she will experience a long chunk without these episodes and we will be able to manage more at home, on our own. But as I type this, my gut instinct is that we will likely see more, just not sure when. For now we will enjoy every day and moment of joy which still finds it's way in and amongst this dramatic season we didn't see coming. 

If this new combination of medications works we will go forward with Layla's make a wish trip in just over two weeks time. Nerves surround it but feel like if any time we need it, it is now. So keep your fingers crossed that goes off without a hitch! 

Don't know what we would do without this incredible man. 

More seizures

In my speech for the gala I wrote "Layla has been so stable lately. It can sometimes slip our minds that the reality is we don't know what her future holds." Then the past few days happened. It's been rough, emotional, scary, exhausting..
On Monday night we came home from a wonderful meet up with a family from the states who has a child with the same diagnosis as Layla PCH2d, she even has the same genetic abnormality. It was pretty interesting to compare so many similarities of our girls. We noticed that Lay was pretty sleepy for most of the visit but she seemed okay, she has these type of days every so often. We put her to bed at 1030pm and she passed out right away. At 1130pm the video monitor went off and I heard a strange noise coming from her room so I ran in to find her seeming to be choking. I felt her hand and it was freezing cold, though her head was sweaty and hot. Her temperature was 38 degrees which is a fever. Her mouth was opening and closing consistently and involuntarily, chest was having convulsions, her eyes and limbs were very tight and I couldn't get her to relax. I called Aaron in and said - "Get Canuck Place on the phone Layla is having a seizure." It looked quite different from her grand mal last April. The nurse talked us through it. We gave her tylenol and Aaron starting drawing her rescue medication. By the time he had it ready to go she had slightly relaxed. This was after seizing for 15 minutes. The nurse advised not to give it if she was coming out of it on her own. I wasn't convinced that she was done so we decided to drive in to the Abbotsford hospital emergency department.
They took her in right away and placed her in a trauma room. A chest x-ray, blood work and urine sample came back clear. By 430am I saw her limbs jump up a couple times and felt her hands which were cold again. The nurse advised the doctor. Maybe 15 minutes went by and she was in another grand mal seizure. This time she brought her hands up tight to her face and eyes were wide open and rolling. Then she started choking and frothing from the mouth. Sats dropped. We turned her on her side and suctioned while giving oxygen. The nursing staff gave her rescue med and it didn't stop the seizure. They tried another that was still unsuccessful. On a good day it's hard to find a vein on her for blood work or an IV but they needed to get one to get her out of this seizure. After more than 5 attempts the doctor said "I'm going to have to do an IO"... What is that!? I thought.
Intraosseous infusion (IO) is the process of injecting directly into the marrow of a bone. This provides a non-collapsible entry point into the systemic venous system. This technique is used to provide fluids and medication when intravenous access is not available or not feasible.
They were going to drill into her bone... the thought made me sick but we were on board to do whatever possible to get her back. Right before the doctor started to drill, his phone rang and he stepped out. One of the seven nurses around asked if he could make an attempt on her ankle. He got a vein! Thank goodness. They ran another med through an IV and she came out of the seizure within 5-10 minutes. Thank goodness. This seizure had lasted 27 minutes. The medications are sedatives so she went into a deep sleep for about 5 hours. After the grand mal seizure last April Layla slept for something insane like 14 hours straight. We'd never seen her sleep that long in her life. I assumed that would happen again this time so Aaron went home to sleep and then in to work for a few hours. 
By mid day she had another seizure. Her body convulsed and she started frothing again. Suction and oxygen again helped. She came out within 2 minutes this time. 5 minutes passed and she had another 2 minute one. Within 30 minutes there was 5 seizures. The doctor came in and said that he was going to get her transferred to BC Children's. She had a 5 more short seizures and then an hour passed and she was brought into the ambulance to be transferred. 
Once there, in emerge that night she had maybe 10 more cluster seizures (not lasting more than 3 minutes). Then she was admitted to clinical teaching unit. She seemed calm and asleep. The nausea from my own exhaustion was taking over. Aaron offered to stay by her side and for me to go get some sleep. Between 10:00pm and 1:00am she had about 10 more. We lost count of the total. The docs were saying they would only give her the rescue medication if she had one lasting more than 5 minutes which these ones never did. As of 1am Aaron was completely drained- he had been doing all of the suctioning and giving her oxygen himself because it takes so long for the nurses to come and get gowned up when you press the call button. He advocated that they couldn't just keep letting her seize all day and night. They agreed to give her a rescue med. Thankfully it worked the first try this time and she passed out again.
The rest of Wednesday she didn't have any major seizures. She was very lethargic but that's to be expected. Her body worked so hard for over 24 hours. Since she was asleep and sats were good Aaron and I went to a hotel to get some sleep Wednesday night. She has stayed grand mal free since these events. Every couple hours we are seeing her be more and more back to herself. When they took some blood work yesterday and I saw her cry, I was so thankful. She hadn't been reacting to any pain before this which scared me.
A week ago, Thursday to Friday, Layla had a 24 hour eeg to see if there has been some unrecognized seizure activity. What timing. The Neurologist team is trying to get the results early from that to see if there is any helpful information. Basically they were trying to figure out if this whole experience was because of a virus or something to do with the progression of her disease. They were pushing for it to be a virus because that can explain the lowering of her seizure threshold. A swab came back positive to coronavirus and the strep virus. So the moral of the story is that Layla got what would be a common cold to most of us and it caused her to have all these seizures. So disheartening. Unfortunately this is going to make us be even more paranoid about her being around anyone that is at all sick.
Yesterday I was getting annoyed that we weren't getting more answers so I called Canuck Place to chat with a doctor about what to do. Two Canuck Place doctors came by to talk in person. They assured me they would talk to neurology and make sure we get questions answered before we are discharged. My biggest fear is that her at home rescue medication didn't work to bring her out of the grand mal seizure- even being in the hospital. How can I go home without having a different one? If we're at home without options we may not be able to get her out of the seizure. Once this is answered than we should be good to head back home. Fingers crossed that will be this afternoon.
Thanks to anyone that has been praying and sending good thoughts our way. And as always thanks for love and support. This girl is a fighter.

Still smiling, in the pain.

Speech

What a surreal night Saturday was. Having the opportunity to speak to over 400 people about what Canuck Place Children's Hospice is to us. Pretty incredible. My nerves were fairly calm until we stepped into the arena and the sudden realization hit me as to how impressive this event truly is. It was absolutely stunning. The prizes made me wish I had the money to bid on them. The food was so delicious. The people were gorgeously dressed.
About 10 minutes prior to us going on stage the nerves got worse. That's when I felt a huge knot in my stomach and was tempted to run for the hills. Not sure if it was the heels that stopped me or my intuition that this was where I was meant to be, but I stayed. And I'm so glad we did. The response was overwhelming. I thought that surely everyone was seeing my hands and legs shaking uncontrollably.. apparently just Aaron saw that. The good thing was that because the lights were focused on us, I was unable to make the faces of the people, just their shapes. Walking off the stage, giving the host a big hug I couldn't believe there was a standing ovation. Trying to keep my cool I arrived safely back to our seats. After the live auction finished and the dance floor opened we had numerous guests approach and thank us for giving them the insight into our lives and what they were really there to support. Since almost every person that we actually know and follows Layla's story on a regular basis was unable to attend I thought it would be a good idea to share our speech with you! So here it is: (You have to read it really loud in your head because it's all in capitals..jk. I do not have the time or energy to change it.)

HELLO MY NAME IS KAITI THIS IS MY HUSBAND AARON. OUR ONE AND ONLY DAUGHTER’S NAME IS LAYLA. SHE IS THREE AND A HALF YEARS OLD AND HAS BEEN RECENTLY DIAGNOSED WITH PONTOCEREBELLAR HYPOPLASIA TYPE 2D - A MOUTHFUL I KNOW, SO WE LIKE TO REFER TO IT AS PCH.

PCH IS A RARE GENETIC CONDITION THAT AFFECTS THE DEVELOPMENT ON THE BRAIN PARTICULARLY IN THE CEREBELLUM, WHICH IS THE PART OF THE BRAIN RESPONSIBLE FOR BASICALLY ALL GROWTH AND DEVELOPMENT MILESTONES INCLUDING SITTING, WALKING, AND TALKING. THIS DISEASE IS LIFE LIMITING AND PROGRESSIVE. LAYLA STRUGGLES WITH SEIZURES AND HAS BEEN DIAGNOSED WITH CORTICAL VISUAL IMPAIRMENT.

WE HAVE BEEN A PART OF THE CANUCK PLACE FAMILY FOR TWO AND A HALF YEARS NOW. 

WHEN LAYLA WAS BORN WE HAD NO IDEA WHAT WE WERE IN FOR. THE DOCTOR NOTICED LOW MUSCLE TONE AT BIRTH BUT THERE WAS NO MAJOR CONCERN. A WEEK LATER WE HOPPED ON A PLANE AND MOVED ACROSS THE COUNTRY TO ONTARIO SO AARON COULD ENROL IN A TRADES PROGRAM. A NEW LIFE FOR OUR SMALL FAMILY WAS BEGINNING.

 AT 4 MONTHS OF AGE WE STILL HADN’T BEEN ABLE TO SEE A DOCTOR AND NOTICED LAYLA HADN’T HIT ANY EXPECTED MILESTONES BUT, BEING OUR FIRST CHILD, WE BRUSHED THOSE CONCERNS TO THE SIDE.

LAYLA WAS 6 MONTHS OLD OUR LIVES TURNED A CORNER. WE WERE CONCERNED THAT SHE WASN’T DEVELOPING, AS SHE SHOULD BE.

WE WERE SENT TO A PAEDIATRICIAN WHO TOLD US HE BELIEVED LAYLA HAD SPINAL MUSCULAR ATROPHY (SMA). HE SHARED THAT SHE WAS LIKELY TO ONLY GET WEAKER AND WOULD PASS AWAY SHORTLY. OUR HEARTS WERE SHATTERED. 

WHEN WE TYPED SMA INTO GOOGLE THE FIRST TITLE TO APPEAR WAS “#1 BABY KILLER DISEASE.” THERE WAS NO WAY THIS COULD BE HAPPENING TO US. THIS PRECIOUS GIRL THAT WE WOULD DO ABSOLUTELY ANYTHING FOR AND SUDDENLY THERE WAS NOTHING WE COULD DO.

OVER THE NEXT TWO MONTHS WE WATCHED THIS ALREADY VERY WEAK BABY GET WEAKER. HER BREATHING GOT WORSE; SHE LOST THE ABILITY TO SUCK AND WAS SEEMINGLY DYING IN OUR ARMS. AND WE WERE TOLD TO ESSENTIALLY WATCH IT HAPPEN. IT WAS BY FAR THE HARDEST THING WE’VE EVER HAD TO ENDURE.

AT 9 MONTHS OLD WE HAD HIT OUR LAST STRAW. THE THREE OF US HAD BEEN SURVIVING ON SUCH LITTLE SLEEP, WE COULDN’T THINK CLEARLY BUT IT WAS CLEAR WE NEEDED HELP. SO WE DROVE 2 HOURS TO THE CLOSEST CHILDREN’S HOSPITAL IN LONDON, ONTARIO.

LAYLA WAS IMMEDIATELY TAKEN INTO THE PAEDIATRIC INTENSIVE CARE UNIT AND MONITORED. FOR A MONTH THIS WAS OUR HOME. SOON THE DIAGNOSIS OF SMA WAS RULED OUT BUT THEY DIDN’T KNOW WHAT WAS CAUSING HER TO DEVELOP AND ACT THE WAY SHE WAS AND WE ASSUMED WE STILL NEEDED TO PREPARE FOR THE WORST. 

DURING OUR STAY LAYLA UNDERWENT SURGERY TO HAVE A PERMANENT FEEDING TUBE PLACED. SPECIALISTS FROM EVERY AREA WERE ASSIGNED TO OUR CASE: NEUROLOGY, GENETICS AND BIOCHEMICAL DISEASES – ALL ATTEMPTED TO COME UP WITH A SOUND DIAGNOSIS BUT WITH NO LUCK. COPIOUS AMOUNTS OF TESTS WERE PERFORMED ON OUR LITTLE GIRL - LOTS OF BLOODWORK, MUSCLE AND SKIN BIOPSIES, A MRI, EEG, EMG, ECG… BUT STILL NO ANSWERS. WE WERE DISCHARGED AND LEFT WITH A HEALTHIER CHILD, BUT WE WERE STILL SO UNSURE OF WHAT TO EXPECT AND WHERE TO GO FROM THERE.

WE DECIDED TO MOVE BACK TO BC. THE MAJORITY OF OUR FAMILY LIVED THERE AND IF OUR TIME WAS LIMITED WITH LAYLA WE KNEW WE WANTED THE MOST IMPORTANT PEOPLE IN OUR LIVES TO ALL GET A CHANCE TO KNOW HER. 

BEFORE WE LEFT WE SPOKE TO THIS NURSE PRACTITIONER SPECIALIZING IN SYMPTOM MANAGEMENT AND SHE RAVED ABOUT AN INCREDIBLE CHILDREN’S HOSPICE CALLED CANUCK PLACE. I DIDN’T UNDERSTAND HOW SOMEONE COULD RAVE ABOUT A HOSPICE. ISN’T THAT WHERE CHILDREN GO TO DIE? 

WHAT WE WOULD COME TO REALIZE IS THAT CANUCK PLACE IS NOT JUST A PLACE CHILDREN GO TO DIE, BUT A PLACE THAT HELPS CHILDREN WHO ARE DYING REALLY LIVE.

WHEN WE FIRST ARRIVED BACK IN BC, JUST IN TIME FOR LAYLA’S 1ST BIRTHDAY, WE HAD NO HOME SUPPORT SERVICES – SO 24/7 WE WERE ON DUTY ATTENDING TO ALL OF LAYLA’S CARE NEEDS. I WAS UNABLE TO RETURN TO WORK BECAUSE OF LAYLA’S HIGH LEVEL OF NEEDS. AARON NEEDED TO WORK FULL TIME TO PROVIDE FOR US. 

WE WERE TIRED. AT TIMES IT WAS HARD TO CATCH OUR BREATH BUT CANUCK PLACE OFFERED US THE MOST IMPORTANT THING WE NEEDED AT THAT TIME – COMFORT AND CARE.

CANUCK PLACE GAVE US PEACE OF MIND KNOWING THAT LAYLA WAS IN CAPABLE HANDS AT THE HOSPICE WITH AROUND-THECLOCK CARE – WE WERE FINALLY ABLE TO RELAX. WE COULD LEAVE HER ON THE NURSING AND PHYSICIAN FLOOR, CUDDLING WITH A VOLUNTEER IN A LAZY BOY CHAIR, LISTENING TO MUSIC AND GO TO SLEEP!

WE HAD BOTH FORGOTTEN WHAT A FULL NIGHT’S REST FELT LIKE. IT BROUGHT SUCH A SENSE OF PEACE TO KNOW THAT NOW THERE WAS A WHOLE TEAM OF SUPPORT BACKING US UP. IT WASN’T ALL ON OUR OWN SHOULDERS ANYMORE.

CANUCK PLACE NOT ONLY TAKES CARE OF US IN THE HOSPICE BUT ALSO, HAS HELPED US GET ACCESS TO ALL THE RIGHT SERVICES AND SPECIALISTS WHEN WE’RE OUT OF THE HOSPICE. HAVING THE ABILITY TO CALL SOMEONE AT CANUCK PLACE ANY TIME OF THE DAY OR NIGHT, THAT KNOWS YOUR CHILD’S BASELINE, IS INCREDIBLY HELPFUL WITH A COMPLEX CHILD. I DO MY BEST AT ADVOCATING BUT WHEN YOU HAVE A CANUCK PLACE DOCTOR BACKING YOU UP - PEOPLE LISTEN. SINCE LAYLA WAS ACCEPTED ON THE PROGRAM THE AMOUNT OF SUPPORT WE HAVE ACCESS TO AND RECEIVED HAS INCREASED SIGNIFICANTLY - I DON’T THINK THAT IS BY CHANCE. 

THE DOCTORS AT CANUCK PLACE HAVE HELPED BRING LAYLA TO A PRETTY STABLE PLACE WITH SPECIALIZED PAIN AND SYMPTOM CARE MANAGING HER MEDICATIONS. SHE EXPERIENCED A DIP WITH CLUSTER AND GRAND MAL SEIZURES LAST SPRING BUT OVERALL, LATELY, SHE HAS BEEN SO CONTENT WITHIN HERSELF. FOR THAT WE ARE INCREDIBLY GRATEFUL. THOUGH SHE IS NOT DEVELOPING TO MEET ANY MILESTONES, SHE KNOWS WHO WE ARE, THAT WE LOVE HER AND IS MORE RESPONSIVE THAN I THOUGHT WE WOULD EVER SEE.

WHEN YOU SEE LAYLA BELLY LAUGH, YOU CAN’T HELP BUT SMILE. THOUGH HER TIMING COULD BE BETTER. WHEN HEARING CHILDREN CRY, OR A SAD STORY ABOUT SOMEONE BEING HURT - THAT’S OFTEN WHEN SHE CHOOSES TO LAUGH. I GUESS SHE’S JUST TRYING TO LIGHTEN THE MOOD. I LOVE THAT ABOUT HER. SHE BRINGS JOY WHERE THERE SHOULD BE SORROW. 

LAYLA HAS BEEN GOING TO MUSIC THERAPY EVERY TWO WEEKS AT DAVE LEDE HOUSE IN ABBOTSFORD FOR A YEAR AND A HALF NOW. IT IS HER ABSOLUTE FAVOURITE THERAPY. THE FIRST STRUM ON CANUCK PLACE MUSIC THERAPIST KARIN’S GUITAR BRINGS AN INSTANT TOOTHY GRIN THAT MELTS YOUR HEART. EVERY NURSE WHO HAS WORKED WITH LAYLA KNOWS THAT HER FAVOURITE BAND IS THE LUMINEERS. WE HAVE PLAYED HER THEIR MUSIC SINCE SHE WAS A SMALL INFANT AND IT IS THE GO TO THROUGHOUT THE DAY AND NIGHT. WHEN THE CANUCK PLACE MUSIC THERAPY STUDENT TOOK IT UPON HERSELF TO LEARN A FEW OF THEIR SONGS IT SHOWED ME ANOTHER REASON WHY I LOVE THIS PROGRAM SO MUCH. I KNOW THAT MY DAUGHTER IS SO SPECIAL TO ME - TO US - BUT WHEN I SEE OTHERS CREATE A BOND AND GET A PEEK INTO HOW WE FEEL - THAT IS THE BEST GIFT. TO KNOW SHE IS MAKING AN IMPACT. THAT SHE FEELS LOVED.

 LOVE IS THE ONLY THING THAT KEEPS US GOING. 

THIS PAST JULY WE TRAVELED TO UCLA AS LAYLA HAD BEEN ACCEPTED TO THE UNDIAGNOSED DISEASE NETWORK. THAT GIVES YOU AN IDEA OF HOW RARE LAYLA’S CONDITION IS. AFTER ALMOST 3 YEARS, WE RECEIVED AN ACCURATE DIAGNOSIS. WE FINALLY HAD A LABEL TO TELL PEOPLE WHEN THEY ASKED WHAT HER DIAGNOSIS WAS - PONTOCEREBELLAR HYPOPLASIA TYPE 2D. WE HAVE BEEN TOLD THAT THERE ARE AROUND 100 CASES WORLD WIDE OF LAYLA’S CONDITION. 

THE SLIVER OF HOPE THAT THEY WOULD DISCOVER LAYLA DIDN’T HAVE A LIFE-LIMITING DIAGNOSIS OR, IN THE BEST-CASE SCENARIO THAT THERE WAS CURE, UNFORTUNATELY DIDN’T HAPPEN.

IT WAS A STRANGE FEELING TO HAVE THAT INFORMATION NOW OFFICIALLY CONCRETE. AND TO BE HONEST IT DIDN’T CHANGE A LOT FOR OUR DAY TO DAY. TURNS OUT WE HAD BEEN DOING ALL THE RIGHT THINGS, GIVING HER THE RIGHT MEDICATIONS AND SEEING THE RIGHT SPECIALISTS. WITH NO POSSIBLE TREATMENT, IT’S ALL ABOUT SYMPTOM MANAGEMENT. KEEP LAYLA HAPPY AND HEALTHY AND TREAT THE SYMPTOMS AS THEY ARISE, IF POSSIBLE. 

AND AGAIN, BACK TO THAT SIMPLE IDEA – HOW DO WE HELP LAYLA LIVE HER BEST LIFE? 

IT’S A TALL ORDER AND HAVING A CHILD WITH A COMPLEX CONDITION CAN FEEL SO LONELY AT TIMES.

IT’S HARD TO FIT IN WITH TYPICAL PARENTS WHEN YOUR ENVIRONMENTS ARE SO DIFFERENT. EACH TIME I HOLD A NEWBORN BABY AND FEEL THAT THEY ARE ALREADY STRONGER THAN MY SWEET GIRL, I FEEL A PRICK IN MY HEART. WHAT I WOULDN’T GIVE TO SEE HER SIT UPRIGHT ON HER OWN. 

IT’S NOT FAIR. LIFE DOESN’T FEEL FAIR. HOWEVER, WE CAN’T LET THAT KEEP US FROM HELPING LAYLA EXPERIENCE LIFE IN THE BEST WAY SHE CAN. SHE NEEDS US TO BE STRONG FOR HER. EACH TIME WE STAY AT CANUCK PLACE WE HAVE AN OPPORTUNITY TO MAKE A CONNECTION WITH ANOTHER FAMILY GOING THROUGH SIMILAR THINGS. WHEN YOU MEET OTHER PEOPLE WHO GET IT, IT HELPS MAKE THIS ROAD A LITTLE LESS ISOLATING, IN A WORLD THAT DOESN’T UNDERSTAND. 

LAYLA HAS BEEN SO STABLE LATELY. IT CAN SOMETIMES SLIP OUR MINDS THAT THE REALITY IS WE DON’T KNOW WHAT HER FUTURE HOLDS. THE DEATH OF A CHILD IS OVERWHELMING TO EVEN CONSIDER BUT WITH THE HELP OF THE CANUCK PLACE, WE WILL SURVIVE IT.

THEY HELP US GRIEVE THE LOSS OF OUR DREAMS FOR LAYLA WHILE SHE IS HERE AND WILL LONG AFTER SHE IS GONE. 

SURVIVING THE FIRST YEAR WITH A COMPLEX CHILD WITHOUT CANUCK PLACE CONFIRMS TO US HOW ESSENTIAL THIS PROGRAM IS. UNLESS YOU ARE A PART OF THIS CARING COMMUNITY, YOU WILL NEVER FULLY UNDERSTAND HOW GRATEFUL YOU WOULD BE FOR ITS EXISTENCE.

THANK YOU FOR BEING HERE FOR OUR FAMILY AND DAUGHTER LAYLA. WE WOULDN’T BE STANDING UP HERE WITH THE ABILITY TO SMILE WITHOUT YOUR GENEROSITY.

TONIGHT I HOPE YOU ALL CAN WALK AWAY KNOWING HOW NECESSARY CANUCK PLACE IS FOR FAMILIES LIKE MINE. 

IN CLOSING I WOULD LIKE TO SHARE A QUOTE FROM JEAN VANIER’S BOOK CALLED BECOMING HUMAN,

“SO MANY PEOPLE WITH DISABILITIES ARE SEEN BY THEIR PARENTS AND FAMILIES ONLY AS TRAGEDY. THEY ARE SURROUNDED BY SAD FACES, SOMETIMES 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.” 

THANK YOU.

The End. 

Update time

I received a call on Tuesday morning from Canuck Place to offer an extra respite stay for Layla. The last two times the offer was presented I had to decline because of too many booked appointments. This time, I looked through the days and saw nothing that would be an issue for her to miss. So off we went to Vancouver. The timing was perfect. The next few weeks are bringing some bigger events and appointments that will likely bring some exhaustion with them. So I am taking advantage of the quieter times. This biggest goal we set was to get closer to finishing Layla's ramp for the back of our house. This ramp has been a source of a lot of frustration. We moved in November 26th and still don't have fully this functioning accessibility. But since she's been gone for the past few days Aaron has continued to jackhammer the giant rock that was discovered in the back yard- hidden under a rose bush- brought home a pallet of paving stones plus a truck full of sand and he's very close to completing it. I can't take any credit for the work other than cheering him on from the warmth of inside with a cuppa tea.
One of the events we have coming up is very near and dear to our hearts. We were honoured to be asked by Canuck Place Children's Hospice to speak at one of their annual fundraising galas. My initial instinct was to decline for my fear of public speaking. But as I carefully considered the pros and cons it was clear that I should take this opportunity to share. This isn't about advocating for Layla's medical needs to professionals and this isn't about speaking to other parents of children with complex needs. Those speeches would be written quite differently. This is about sharing a snapshot of our lives with influential people from our community who deem this to be a worth cause to support. Of how their generosity has brought sanity to my life.  Each time I sat down to write the words flowed. It brought both tears and smiles. Surprisingly, it was easier to come up with eight minutes of talking than I thought.
Don't get me wrong, I am very nervous. But with the final edited speech done I am praying that I can at least read off the paper at a good pace without any noticeable shaking. If Aaron was writing this he would say he's just praying I will get words out and he won't be left to speak for me. Which has happened in the past.. a couple times.
The undiagnosed disease network is running a few more tests on all of us. It is kind of neat that even though they found a diagnosis, it isn't stopping there. Because Layla is the first to have PCH2d the way she does, the doctor who was leading the investigation is continuing to research on her. I have no idea if anything will come of this but it's nice to know they they want to follow her along.
AND in very exciting news we are all going to Hawaii this year! Layla was approved for a wish through Make a Wish! Initially we fought for her to get a therapy pool/hot tub so that she would be able to do water therapy at home every day. It still seems like the perfect wish for her, but unfortunately after having an electrician come over the $5,000 out of pocket we would have to come up with changed our minds pretty quickly. To pay a hefty chunk of change for Layla to get her wish doesn't make sense. Back to the drawing board we went. After many discussions we decided on taking Layla to Aulani, the Disney resort in Hawaii. There are a lot of pools there, which she will love. They do movies under the stars at night, there will be some characters walking around (which I am not a fan of but maybe Layla is) and the main goal is to created some beautiful memories with our little family. We'll wait to find out at the end of this month if her hip surgery is going to be sooner rather than later which will effect the dates we choose to go.
There's the update on the little miss. Busy times as usual but she's still doing so great overall. Very happy and pretty darn healthy this winter considering how many nasty viruses have been going around. -*feeling thankful.

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/