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.