thankful (an update)

It's been awhile since I've last done an Audrey update and we've had a lot of big things happen within the past few weeks that I thought I'd share.

Around Audrey's first birthday we made another trip over to Iowa City to have a follow-up with Dr. Drack (genetic ophthalmology). I feel as though we've been through it enough times that I'm familiar with the routine: get checked in, taken back to the room with the same Disney or Clifford character graphics that adorn the wall, review updates with the tech, have a few minor tests with lights and toys, initial meeting with Dr. Drack & team of residents, get eyes dilated, and more tests with a variety of lenses and more flashing toys. We were told that Audrey's eyes have not changed since the last trip out earlier this spring. However, the arc of scar tissue in her left eye moves and often times it moves in front of her field of vision. The good news: she's still trying to use her left eye (her 'bad' eye) to see. We were then sent clear across the maze of an eye clinic to the ultrasound room. Did you know that they can do ultrasounds of your eyes? I had no idea, but that's just what we did. The purpose of this was to see how thick the scar tissue was and to determine if it is attached to the retina at all. And more good news : it was not attached to the retina which means Audrey may be a candidate for eye surgery. Essentially they would go in and snip one side of the arc so it would no longer be able to wave in her field of vision, thus hopefully encouraging her to use that eye more to see. But eye surgery, especially on a small child, is very risky so we're going to be monitored for the next four months to see if gravity will hopefully pull the arc down on it's own rather than needing surgical intervention.

We also received somewhat of an update on genetic testing. Audrey's blood showed two mutations of the Kif11 gene. This means they're about 90% sure that is what is behind her microcephaly and her retina issues. The next step is to confirm by checking both Will and my blood to see if we are both carriers of the mutation. We were informed that as of the last 6 months there have been major discoveries in a variety of other genes that could potentially be linked to her condition, so if Will and I are not carriers, genetic research will start going down the newly discovered list. If we are both carriers of this genetic mutation, that means we would have a 1 in 4 chance of having another child with the same condition. And while it's scary to make the jump from a 'less than 1 in 100 chance' all the way up to a 25% chance, we aren't exactly scared by these statistics. Audrey is doing so well. We would consider ourselves incredibly lucky if we were blessed with another baby as sweet and well-mannered as she is.

We also had a follow up with Jennifer (developmental) and Brandon (vision) with the Heartland AEA. This time was slightly different than the rest since we did her review at her daycare, but everything went well. They played a variety of games with her to see how she'd respond and took notes. Developmentally she is still right on track and even slightly ahead--great news! Then Brandon said this:

"Well, we've checked everything off on her 1-12 month visual milestones checklist and even taken some off of the 12-24 month list.... she's right on track and even a few weeks ahead with her vision."

We've heard countless times at the doctor about the state of her eyes--minimal retina in the left, only patches of good retina in the right. And yet she's right on track, visually, with a child who has no vision impairment. She technically should not be able to do what she is. We've been told without her glasses she cannot see in stereoscope (3d). Yet occasionally at meal times she will go without her pink frames and she can still find the tiniest crumb of the one food she likes on her tray and grab at it with great precision. Seeing her do so well on a daily basis, I think we sometimes forget just how astounding it is when she does these things because we're so used to it. When we're back in appointments it's all brought to the forefront again. And how, as her parents, can we not just beam with so much pride that our daughter is excelling beyond expectations and in ways that can't medically be explained?

Audrey, I hope you always set your goals high. I want you to know there is nothing you can't do and you're proving that nothing will slow you down. Your dad and I are so, so incredibly proud of you! As we head into Thanksgiving this week, I think it's pretty clear what we are thankful for. You are loved.

To all our friends and family: Audrey, Will and I want to wish you all the happiest Thanksgiving! We hope you get to spend it with those you love most. Safe travels!