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.