Best Daddy Ever.

It’s been a long couple of weeks, but I have to say Elijah, Ava & I are really blessed to have Craig. He works two jobs and still plays with Elijah, spends time with me, helps with the dishes, listens to me when I need to talk, gives me time to make coffee in the morning, adapts to pretty much anything, helps make it possible for me to still get out & do ministry, and still makes us laugh.

He even takes his turn getting up with Ava at night. Part of her syndrome includes a diminished need for sleep (which is a terrible idea, by the way!), so we often have to take turns with her night shifts, which I now call Late Night Party with Ava (~10pm – midnight) and Why’s Everyone Still Sleeping? (~4-5am). Even though he is working a lot, Craig still handles some of Ava’s awake times. A lot of them, actually.

Craig & I are both doing plenty of grieving right now, but if I have to walk this road I am really glad I get to do it with him.

The call

After a 2-month ordeal, we finished the blood draw for Ava’s chromosome microarray test Dec. 23rd, and they gave us a range of 3-8 weeks to get results back (not counting the holidays). So we didn’t really know when we’d hear back. Not that I was waiting on the edge of my seat. I had a feeling we would find out something from this test and it wasn’t likely to be something we’d want to hear, so there wasn’t much point in sitting on the edge of my seat waiting for it. 
All that to say, I wasn’t expecting the voicemail I got from the neurologist Tuesday morning. Before I called back, I told Craig, “We’re either about to have a really bad day…or just a kind of bad day.”
I guess I’m just stalling because I don’t want to get to the point.
It ended up being a really bad day. Ava has a neurological disorder caused by a deletion on chromosome 15. It’s like a glitch in the chromosome structure found on all of her cells. In simpler terms, it’s called Angelman Syndrome. 
We have a January 27th appointment with a genetic counselor, but honestly the over-the-phone diagnosis didn’t come with details, just a referral to make that genetics appointment. 
Most of our understanding of this syndrome so far is from the internet, so I’m hesitant to give you a lot of details beyond sending you to the same reputable sites we’ve been reading, until we meet with the geneticist and can perhaps get a clearer picture of Ava’s specific case. 
What I can tell you for now is that it’s a pretty severe condition and that of the four types of Angelman, Ava has the most severe kind. 
The main symptoms are developmental delays, lack of speech development, balance problems, diminished need for sleep, intellectual disability and by age 2 or 3, seizures. With lots of therapy, a really good outcome would be for Ava to eventually learn to walk, speak a few words, become toilet trained and sleep through the night, although none of these are guarantees right now.
The internet has not yet giving us any explanation of how Ava’s hearing loss fits into this, but our occupational therapist said she’s seen Angelman kids with a similar level of hearing loss to Ava…and again, this is why I’m hesitant to say a whole lot before we really get to start working with her doctors and therapists on the specifics of Ava’s case. 
Of course every child is unique and we have the benefit of early intervention…and a lot of people who pray for her. We are not without hope. But we are grieving a lot of things right now and that will take some time. 
More to come as we keep walking the road, learning more and have things to share.
In the meantime, some links you might find helpful if you want to learn more on your own:
You can also google blogs, and so far I’ve found some interesting things, but haven’t really settled on one I’d start sending people to. I’ll leave you to your own devices there for now.