Someone's in the Kitchen with DNA

Brian here. Wow, it’s hard to follow that post with one of science and other medical goings-on (even 2 weeks late, sorry we have been so negligent on here), but we wanted to update the prognosis for Audrey. She has had a flurry of appointments lately- physical therapist, occupational therapist, pediatrician, geneticist, neurologist, and 2 different ophthalmologists. Between those folks and her early intervention staff, we have assembled quite a team to help her. Not sure how the team would fare in 5-on-5 full-court basketball, but medically, they are quite a Dream Team.

We are very lucky to have some of the best doctors in the country just up the road from us at UCSD, a fact that we marvel at every day. I’ve yet to receive an alumni discount at the snack bar, but I’ll survive.

To summarize her appointments, not too much is new. Her first PT session went well, and we are going to try and get her weekly sessions for PT and OT back-to-back. You might wonder what occupational therapy means for a 6-month old, but as her therapist said, her “occupation” right now is to play, so all exercises will deal with getting her to be curious about her world and play with objects.

It is going to be interesting to see how this all works, since so much of what causes babies to develop physically is brought on by vision. Here is Ashley working with the little terror on sitting up and other fun things.










According to her pediatric ophthalmologist, she could still be a candidate for delayed visual maturation or some other visual defect that corrects itself over time, and where vision develops over the course of the first 18 months or so, but he said he was 75-80% sure that Audrey has LCA.

To summarize, LCA is a genetic “typo” in her DNA that prevents, or severely inhibits, the cells in her retina from processing light. The biggest development lately, though, has been with her genetic ophthalmologist. He was a crack-up, and had a gaggle of medical students following him around, and he seemed to have no problem loudly questioning them and their manner. It was interesting, to say the least, like an episode of “Grey’s Anatomy” come to life. He did not tell us anything that we did not already know regarding Audrey, and ordered some bloodwork and an ERG of her eyes that we will have to schedule up at UCLA.

It remains to be seen how insurance will handle this development. He also told us about the very promising work being done on one of the genes known to cause LCA, but tempered this optimism with the sad news that due to lack of funding availability, research projects into therapies for a lot of the other genes known to cause LCA have seen their funding sources dry up lately. If anyone has a spare $40 million lying around, give us a call.

We got to talking about the successful DNA therapies for the RPE65 gene, and I asked him what the odds were that an RPE65-type LCA could be caused by a random mutation, and he said they were infinitesimally small. Not sure if that applies to ALL genetic mutations that cause LCA, but whatever gene is causing her disorder, it sure seems likely that Ashley and I are carriers of this genetic defect, and that we passed our defect on to Audrey. Crazy, huh? Audrey just had her blood drawn to begin the identification process. Chances are it will take several screenings to indentify the specific mutation, and could take a loooooong time (several months, if not years). Luckily, clinical medicine is advancing very rapidly in genetic therapy, and even if we found her gene tomorrow, clinical trials are not conducted on babies until at least 5-8 years of age, although there is talk of future trials involving patients younger than that.

Anyway, if you have a desire to delve into the depths of science on this issue, this is a wonderful, if slightly outdated link:

http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=lca

It’s a great overview, but the write-up on the full range of identified genes is outdated, which I suppose illustrates the pace at which research and treatment is advancing.

Anyway, that’s it for now. As always, thanks for reading, and feel free to leave comments, we love reading them!