City of Angels

Brian here. Well, the family has returned from LA. Let me tell you, driving up there at 3am is an amazing experience if you've ever spent any significant time up there slogging through traffic during normal waking hours. But that's a story for another time, as I'm sure everyone wants to know what happened at Childrens Hospital in LA.

In short, the ERG confirmed what we, in our hearts, already knew. Audrey has little to no usable vision, and the culprit is almost certainly an inherited retinal dystrophy of some sort. LCA is the overwhelming "leader in the clubhouse" as far as specific diagnoses go, but we won't know that for certain until a specific gene can be identified, which could be several more months of waiting. They say the human genome is complicated stuff, you know?

Dr. Lee did mention that as far as congenital blindness goes, LCA is about the best thing one can have, as the body of research behind treatments is growing at a tremendous rate, and that the clinical successes that have been observed are merely the tip of the iceberg when it comes to genetic therapies, themselves the "future of medicine," in the words of Dr. Granet at UCSD. It's not to the point of, say, getting LASIK done on your lunch break, but that operation was itself science fiction 25 years ago, and now you can get coupons for it in the Reader, right next to boob jobs and free joints. So we're cautiously optimistic. Not that it matters either way, though. We're ready for whatever comes our way on this path we're on.

That said, I'm not going to sit here and say it was all sunshine and rainbows today for me, but it was very telling that when Audrey woke up, she was all smiles from the beginning. So I figured out before that acting down and feeling guilty for having passed on this genetic trait to her was pretty damn selfish and self-centered. Plus, we are no longer consumed with worry about what we might have done to cause this. I mean, we can just blame our parents, haha. Kidding, of course.

She truly is a blessing in our lives, and has made us better parents, and better people. I have come to understand a lot of what makes being a parent the most wonderful gift on earth, both in my interactions with her and seeing just how amazing Ashley is as her mother. Having lots of caring family and friends around has been great as well- from Barbara and Jerry meeting us at the hospital at 5am to endure 8 hours of waiting room magazines and McDonalds, to Greg and Judy volunteering to meet us at the house tomorrow at 8am for a day of caring for Audrey and listening to our new fence getting nailed up. We really appreciate all the efforts and love shown by everyone, including those who can't be here in person. It means a lot to us.

So what's next for us? Well, a couple more doctors' appointments as follow-up, and we're going to be spending some time making sure Audrey's DNA gets screened as much as possible by the labs that specialize in LCA screening. We're also more than likely headed to Philadelphia this summer for the LCA conference, so if you are around, look us up.

Other goings-on for June will probably include Audrey's first trip to the beach with dad now that the water has warmed up, her first time on a surfboard, and a couple Lakers parties. Interestingly enough, the owner of the Celtics has a son with LCA. Still not enough to make me pull for Boston, but I guess it makes me hate them less...Sorry Conway family.

Anyway, I am rambling and in desperate need of some sleep, so I'll sign off for now; thanks again for reading...