We're back!! We needed to take a little vacay from the blog. I don't know why but when I have no structure to my days like I do in summer, somehow I turn sloth-like and get absolutely nothing productive done. We've got lots to report on the family front, however--the LCA Conference in Philly, AP's 1 year old birthday bash, and a few other exciting things so we'll hope to get you all up to speed over the next couple of weeks. And pictures...we've got pictures to post as well.
First off, our family attended the biannual LCA family conference in Philadelphia July 30- August 1 at the University of Pennsylvania. We arrived at our hotel just in time to join a group who was getting ready to walk over to Children's Hospital of Philadelphia (CHOP) for checkups and blood work. The whole family had blood drawn, which will be sent to Carver Lab in Iowa and will be screened for 15 known genes that cause LCA. Not all of the genes have been identified yet, so there is a possibility that we may fall into the unknown category.
No matter what the outcome, we know we are at least several years away from any kind treatment--and that possibility is only if she has one of the identified genes that have research behind them. The research on LCA is progressing at light speed--I want to say it's like science fiction, but it's science. These major breakthroughs in her amazingly rare condition really are happening today.
Brian and I have talked a lot about how, should her gene have a clinical opportunity around it, we don't quite feel comfortable being among the trailblazers in the research, and will have to really look at the risk/reward should Audrey be eligible to participate in any initial clinical trials. We met a lot of very interesting, very accomplished individuals with LCA at the conference, and it's really not something we feel is worth risking her health if it is not safe. Most everyone we talked to was fine with their condition, and it really helped us maintain some perspective on things.
We also would like for Audrey to have a say in all of this hub-bub over her, and that will be a few years down the road, which will hopefully give the body of research time to mature and diversify, which can only be good.
We commend those families who feel otherwise--they're the real pioneers in this research and are putting a lot on the line. All this being said, we're most likely several years out from any treatment, if, in fact, there turns out to be one.
First off, our family attended the biannual LCA family conference in Philadelphia July 30- August 1 at the University of Pennsylvania. We arrived at our hotel just in time to join a group who was getting ready to walk over to Children's Hospital of Philadelphia (CHOP) for checkups and blood work. The whole family had blood drawn, which will be sent to Carver Lab in Iowa and will be screened for 15 known genes that cause LCA. Not all of the genes have been identified yet, so there is a possibility that we may fall into the unknown category.
No matter what the outcome, we know we are at least several years away from any kind treatment--and that possibility is only if she has one of the identified genes that have research behind them. The research on LCA is progressing at light speed--I want to say it's like science fiction, but it's science. These major breakthroughs in her amazingly rare condition really are happening today.
Brian and I have talked a lot about how, should her gene have a clinical opportunity around it, we don't quite feel comfortable being among the trailblazers in the research, and will have to really look at the risk/reward should Audrey be eligible to participate in any initial clinical trials. We met a lot of very interesting, very accomplished individuals with LCA at the conference, and it's really not something we feel is worth risking her health if it is not safe. Most everyone we talked to was fine with their condition, and it really helped us maintain some perspective on things.
We also would like for Audrey to have a say in all of this hub-bub over her, and that will be a few years down the road, which will hopefully give the body of research time to mature and diversify, which can only be good.
We commend those families who feel otherwise--they're the real pioneers in this research and are putting a lot on the line. All this being said, we're most likely several years out from any treatment, if, in fact, there turns out to be one.
Well, back to Philly. We had a great time. As I said, we met some wonderful families also touched by LCA who we will be keeping in touch with. It was incredible to be among a community of people from all over the world who share this common bond--and the kids were rad. We relished the much needed opportunity to 'nerd-out' with other parents like us who have become self-trained experts on LCA. We also were able to catch a glimpse of Audrey and ourselves a few years down the road through the kids and parents we met there. That alone was worth the trip.
Each morning of the conference began with us shipping Audrey off to camp. Although there were several babies at the conference, Audrey was the youngest to go to camp. She was strapped up in her carseat--it felt like a scene from a movie, with us tearfully waving as the bus disappeared into the horizon. We did not, however, attempt to run with the bus. "Camp" was held at the Overbrook School for the Blind. There Audrey swam, played, enjoyed lot of attention, and was admired for her 'born for a bikini' bod.
We, in the meantime, sat in on information-packed days which consisted of several of the leading LCA researchers and doctors presenting on the current medical research in LCA. The presentations focused mainly on RPE 65, a gene that has responded successfully to treatment.
We felt like we learned a great deal and came away with a greater holistic understanding of LCA the disease, as well as the unique needs of a person affected it.
We really enjoyed Philly and would love to go back in two years. Penn campus is gorgeous. We were in too much of a rush to get to Aunties Onn and Mary's house that we skipped many of the historical points of interest. Now we have a reason to go back. We'll write more on our adventures east soon...
Also, we have a bunch of birthday stuff to post, so stay tuned for that. We're really sorry we've been slacking, but life got in the way...;)
Yay! So good to hear the details of the conference! Love the picture of AP in the pink - so beautiful! Can't wait to see more,
ReplyDeletelove Lindsay M.