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.