Limp

Aaron and I have made it a priority this year to each play a sport to get exercise, be social and do something for ourselves. It has been fantastic. Gives us each something to look forward to in the week. I didn't predict that it would actually make things harder. On Sunday during my game I got taken out by another player and sprained my ankle pretty bad. It's double the size and all black and blue. Unable to put any weight on it the last few days has make it so difficult to do anything. I'm hopping on one foot to get to and from the washroom and the fridge where my wonderful husband has had all of Layla's food bags and meds set up for me.
Thankfully I have nursing support set up for the mornings for 2 hours for the rest of the week.. our very last week of it, so that she can bring Layla down from her room upstairs to the living room, where we will stay the rest of the day. Praying I'll be able to at least start limping on the leg tomorrow to feel more useful and less lazy. We can't afford to have Aaron take any time off work so we have to make this work without him taking sick days. It's a great reminder for how important it is for me to be healthy for Layla. Also how much we need help.
Last week we had an assessment done to decide if we deserve regular nursing support. We had multiple professionals and non professions say that we deserve this support and should have it in place. So I had my hopes up. Of course the meeting was quite emotional, having to focus are the hardest parts of Layla and her medical/diagnosis/every day journey. Something I don't like to focus on too much. Right in the meeting the women told me that at this time she didn't believe we would qualify. It hit me hard. I started crying.. And I almost never cry in appointments and meetings. (I usually wait until I'm alone.) She felt bad. She said that she could 100% see that we do need help. But it is really hard to qualify for nursing support and she didn't want to get my hopes up. She promised she would call my social worker to see if she had any other ideas. Then yesterday she stopped by to give me a copy of the assessment and shared that she will be presenting our file tomorrow and that is when the decision will be made. I get the sense that she wanted to give us another opportunity to add to our case because she said "If you can think of any more reasons why Layla needs the support of a nurse vs a caregiver please email me by Tuesday so I can add it to the report."
Thankfully I have a nurse here today, who thought it was ridiculous that we wouldn't qualify, so I told her I need her help to come up with a few things. Reasons why her job is important. Fingers crossed we can come up with just the right words to convince these people.
The hard part is I don't want to have my hopes up, yet again, to only be crushed. Every week it seems there is a new roller coaster ride on this journey. It's hard to know where to put your energy and to fight and when to throw in the towel and say this door is closed.

Go Fund Me

We are trying to get some funds together to go towards the purchase of a wheelchair accessible van to get our sweet girl Layla out and about with ease. If you feel lead to give towards our cause we would be so very grateful. Please take a moment to watch the video and read our write up, then share this page to spread the word, if you feel so inclined. Thank you for all the love. For real.

https://www.gofundme.com/laylavan?ssid=773354427&pos=1

Mito-what?

After a recent appointment with Biochemical Diseases and Genetics I've been sitting with a heavy heart. Probably partially heavier because Aaron was away and I wasn't able to vent fully over the phone. The latest route they are wanting to go down for diagnosis is a possible mitochondrial disease. I wrote last about this mitochondrial cocktail that was prescribed. I had a lot of questions so we booked this appointment to get some of them answered.
Honestly, it felt a bit like a science class. There was even diagrams drawn. They explained to me cells and DNA genes and the first 25,000 that they looked through and found no notable abnormal genes. Then they moved outside the nucleus to the mitochondria. Mitochondria are responsible for the energy we need for every organ in our body. I guess there was something noted that at first they didn't believe could explain Layla but now they are second guessing. This mitochondria is passed on solely from the mother and not the father.
That in itself is a hard pill to swallow. Ugh.. now it's not both of us, it's just me.
The sad stat with mitochondrial Diseases is that they are passed down to children 100% of the time. Whether or not they show symptoms and the severity is another thing.
So now they're in the process of applying to get more funding to test blood work of Layla and myself.  If she has more abnormal mitochondria than me, that could explain why Layla is the way she is. If she has less than it would not be the explanation and we'll be back to the drawing board. By we I mean they.
The downside to the cocktail is that because it is high dose vitamins, and our lovely government will not fund any natural prescriptions, only unnatural ones, we have to pay out of pocket. Obviously if it'll help we will figure out the funds. But if it doesn't help we don't want to spend the money for nothing. So for now, we're going to order the perscription, trial it for 6 months and see what difference it makes.
Sometimes I have these out of body type experiences when I'm sitting with these specialist and talking about the medical side of things and just shake my head. I never thought in a million years I would know the things I know without signing up for med school. It's overwhelming at times to try and separate motherhood with medical motherhood. Reminding doctors that we're talking about my daughter here, not a lab rat. But while wanting to try anything and everything we can to keep Layla happy and healthy. I am forever changed.

Give her an inch

The power wheelchair is finally up and running! Her custom seat is all set up for it. Wednesday the seating and mobility team showed up with our physio and OT. They said "She might not pick it up right away. But with practice hopefully she'll get the hang of the control and movement." But she moved it, pretty much right away! She did little movements across the living room. Oh my heart! It was so amazing to see. We were all so proud. Everyone had their camera's out, video taping her, cheering her on.
It gets me back to the reminder that we have no idea what's going on inside for Layla. We don't know where her mind is at, what her potential is. We have to give her more opportunities to show us just go far she can go. Give her an inch, so that she can take a mile, I say.
For now she has to ride around the living room because we don't have the ramp built yet to get it outside, nor the van to go even further. But she only needs the small space to begin with. Once my walls start getting dented.. then that's a different story.
On the medical diagnosis side-I received a phone call today from the doctor who applied for us to go to the undiagnosed disease program. She had just been in contact with them about Layla. They had expressed some concern in sending her to the National Institute of Health. First off they were worried about having someone like Layla travel on quite a long journey to Washington DC, including connecting flights. We would not want any medical issues to happen up in the air. The other worry is that the NIH does not have a pediatric ICU only an adult one who won't take children under 12kg (Layla's only 10kg).  They said if she is put under sedation, which she would be for multiple of the testing they would do, it would be too risky to have her there. That being said, they asked if we would consider going to another one of their sites, UCLA. The flight is a lot shorter and they are equipped with a pediatric ICU, Yay! I said, of course! We just want to see this happen. Doesn't matter which site. We are not ready to give up yet. So now she has to get back to them, find out their wait time, yaddy yadda..
In the meantime, they have decided to start Layla on a mitochondrial cocktail. It's basically a high dose multi-vitamin made just for Layla. Potentially, it could help with giving Layla more energy and thus more strength. We're up for anything! I just read an article about a new drug that has recently come out that can help kids tremendously who have SMA type 1. It was an incurable, life-limiting, genetic disease, prior to this drug being approved. It gives me hope that there could be something out there that can at least help Layla enjoy a longer, happier, healthier life.

Who you know.

The small amount of sleep Layla gets on a regular basis has always been a concern. She gets no where need what a child her age should be getting. We know part of the issue was/is reflux. When she started reflux medication in February, her sleep got a bit better. But it's still not great. Now Layla's therapists have been questioning Layla's breathing patterns. Wondering if lack of oxygen at night could be part of the reason she wakes frequently.
We brought up the issue with the pediatrition and she agreed to get her on the waitlist for respirology and ENT (ears, nose and throat). I called the respirology clinic to check in on our application when she told me that they hadn't received the referral. But stated that it would only be about a months wait if we got it in as soon as possible. So I got a hold of the doctor and asked her to re-send the forms. Then when I called again to check that it was received, I was now told it would be a 10 month wait! No idea how that changed so quickly but I was discouraged. Isn't breathing is a serious issue? You would think that there would be a high priority to get in right away if there is concern.
The really frustrating part for me was that we had both respirology and ENT doctors when we were in Ontario. They were supposed to put the referrals through themselves when we left there over a year ago now. I guess that never happened. And obviously we had gotten busy with other specialists and priorities that we hadn't ensured that those referrals were put through. So I guess that's sort of on us for not confirming.
The therapists suggested that we might need to take Layla into emergency at the children's hospital so that she could be seen sooner. Unfortunately that is the one way to avoid long wait times. Not ideal, but that's life. While mulling over the thought of doing that a new friend of mine who is all to familiar with the hospital and specialist world with her son got involved. She had noticed similarities between Layla's symptoms and her sons when he needing to start on the bi-pap machine while sleeping. While at BC children's last week she saw the respirologist and explained our situation and the wait time. He wrote down Layla's name and said to tell me to call and book an appointment ASAP. We got in Friday. Going from a 10 months wait to a 2 DAY wait. Isn't that insanity? How can it be? The only thing I can put it down to is that it's all about who you know.
I'm very thankful for this new friendship. She is almost 2 years ahead of us in her journey with her son and it's already been beneficial. Not only to have someone who understands the emotional side but also the practical side of life with complex children. I'm starting to realize how important it is to not feel alone through this all.
The appointment went great on Friday. The doctor heard history and what is going on now. He saw the need we have for more help and support through the children's hospital. We were sent home with a sleep apnea kit to monitor Layla's sats over the night. I'll bring it in this week to be reviewed and we will go from there. Even if she does not need to have the bi-pap machine brought home he is going to direct us to where the help is needed.
I explained how I'm currently feeling as though they have us waiting in limbo to find out if the NIH is going to take us on. But while waiting, doing nothing much in the mean time. I will be especially frustrated if we do not get accepted into the program. He agreed. He said the hard truth of that he is slightly skeptical that they will ever find a diagnosis if they haven't at this stage in the game with the amount of testing that has been done. He understands how frustrating it must be as parents to not have more answers as to what the future may hold but unfortunately it's all too common not to have answers. That being said, he said that doesn't mean she needs to be given up on. Symptom management is the number one priority. How can we help Layla live her life at her highest potential and with the most joy? That thoughts been around for a long time but is still so important.
Too often I sit back and just trust the doctors who see her for such a short period of time. But what I'm starting to understand more is that sometimes I need to fight a bit more. If I know there are issues in a certain area I can't let anyone tell me that they are not there. Fight for that second opinion. Use the connections that I do have. I am Layla's biggest advocate and there will always be new battles.

Two

"She doesn't have SMA but I am assuming that she will have a similar outcome." Those words cut like knives. My heart breaking into a million pieces. I didn't know how to feel. There was some relief that she didn't have type 1 SMA which is basically a death sentence, those children rarely living past two. Then processing that no one knew what her diagnosis was but they saw a similar outcome of us not having her much longer. They told us she would most likely just get worse.. slowly losing all abilities.
Look at her now! She made it to two. She made it to two! It's such a big deal. A miracle really. I'm scared of making it a big deal. Letting myself think forward of how many birthdays she'll have and what she'll be like at each, is a bad road I go down too often. I have to consciously try to STOP thinking of what isn't and think of what is.
Layla is here and is doing so much more than the doctors thought she'd be able to. She can press on the piano on her playmat with her feet, and pull a rope to get a fan moving and can kick at me when I tickle her feet. She can catch my gaze and smile when our eye connect. She can yell and cry at me when I leave her alone and she doesn't want to be (always). And my favourite, she can full out belly laugh. All signs that she is there, she is present and she knows what she's doing. For that I am incredibly thankful. She is a typical two year old in many ways that we often overlook.

Thing are looking up for the coming year ahead. Hopefully an accessible van, more respite, more independence for Layla, daycare..

Party at the park tomorrow for the big 0-2. Family and friends will gather to celebrate this sweet little girl's life. 

"Today you are you, that is truer than true. There is no one alive who is you-er than you."

She's here!

Last Friday I received a phone call from Red Cross saying that a power wheelchair was ready to be delivered to my house on Tuesday! Fantastic news. Finally, Layla can get on the move. Aaron and I discussed how we didn't have a ramp but assumed that Red Cross would come equipped with one for delivery at least. And besides, there should be a few hands to help because I'm sure OT and Physio will need to be here as well. 
Boy, I was wrong, and felt very ill prepared. Yesterday comes around and I am the only one home because it's midday. This scrawny young guy hops out of the delivery van, alone. He asked me if anyone else was here, or coming to help. I guess not. He took one look at the stairs and said he would have to leave it in the driveway. Not ideal. I thought I guess I'll be hanging out on the porch all day keeping an eye on it. In the back of the van was a ramp to get it out onto the ground and so I asked if we could attempt to use that ramp on our side stairs to at least get the chair onto the back patio, and out of plain sight. After having to read through the manual how to turn it fully on and get it moving we made it out of the van and eventually up the back stairs. In hindsight I should've asked if he could get it fully into the house because it was only one small step away from getting into the house. But off he went. Leaving me with a 250+ pound wheelchair. Aaron and I were able to get it up the final step and into the living room when he got home from work.  
Unfortunately it doesn't come with a seat, so I assume that we will have to get our wonderful engineer over to make another custom creation to have Layla be safe and comfortable in her new chair. We're sort of in the dark because it seems physio and OT are both on vacation this week. Which explains why they didn't come to help make sure it arrived safe and soundly.  
I am incredibly excited to get miss Layla moving. But slightly overwhelmed at the fact we still need the seat, and ramps to get it outside and then a wheelchair van if we want to go anywhere outside the house and off our street. 
I know it will all come together eventually. And I'm so so SO thankful that this has been given to us (long term loaned). Looking around the living room at all the specialized equipment, thinking about the thousands of dollars we would've had to pay, if our healthcare wasn't so great. 
Now, I just can't wait to watch this girl get going. To develop further. No doubt in my mind that she will learn how to get moving in this thing. Many smiles and tears of joy to come.  

Here she is, with that one final step to go!