Shawni and I had an amazing experience at the Bardet Biedl Syndrome Conference at Duke University on June 19 and 20th. The BBS program there is directed by a brilliant and wonderful guy who is one of the foremost researchers in the world on Lucy’s syndrome.
On Friday we took a tour of the genetics lab which was fascinating. We learned so much about how genes work and saw an amazing robot that can do amazing things with gene testing that is beyond belief!
We learned about the importance of stem cells, testing on zebra fish which go from egg to tadpoles in 48 hours.
And how proteins, not being able to reach the photo receptors in the eye cause the cilia to die which causes blindness. So much to take in!
Our guides were PHDs who work in the lab every day.
The doctor hosted a wonderful party at his beautiful home for all the BBS affected families (about 140 families were represented) on Friday night and we learned SOOOO much as we talked to so many families who have been affected by BBS! We were fascinated by their stories, saddened by some, amazed by some and several gave us hope for the future. We heard such amazing things about families living with as well as coping with their disabilities.
One of our great delights was that the wonderful doctor we met last year in London there to speak at the conference. He has become the premier researcher champion organizer for BBS kids and their families all over the UK. He has identified about 400 families in the UK and runs a conference there every year. He brought his wife and I was so excited to see them both and for Shawni to have a chance to meet them both!
He truly loves the BBS kids and has made life-changing discoveries that are helping BBS families all over the world.
This cute girl on the left was just diagnosed with BBS last year. She has just graduated from high school and has been accepted at a University for the fall. This mom and dad are scientists in their own right and they along with this cute sister have made life wonderful for this bright young woman!
She has some sight but can’t drive or do anything that requires seeing at any distance but she is highly functional and such a terrific girl.
Others aren’t so lucky! There were lots of canes for the blind and kids and young adults struggling with weight, sight and kidney issues. Some had multiple syndromes by age five. One man wasn’t diagnosed until he was almost 50. He had a lovely wife, had adopted two adorable special needs kids and was highly functional.
Our “Dr. Phil” gave a fascinating talk about his discoveries from the BBS families in England. Below you’ll see a picture of a picture in a dark room of the cute kids who came to the British conference in April. He says what he loves most about the BBS kids is that they are so delightful to work with!
We loved soaking in (literally, it was 92 degrees with 85% humidity) the Duke campus. What a beautiful place. Shawni was in awe with her camera in hand. You’ll have to check her blog for the really good pictures but here are a few things we saw:
Shawni was loving every angle! Shades of Wellesley although not quite so spectacular.
We think this might be the law school that Jeff attended. Right or wrong Jeff?
And of course there was this:
Given all that we learned and saw and discovered and as we talked with other parents, we are sure that Lucy is on the good end of the BBS spectrum. She is doing AMAZINGLY well. Her verbal skills are as good or better than any normal three and a half year old, and she is absolutely a delight. She can write her name and identifies all the letters of the alphabet and knows how to get exactly what she wants…which will stand her in good stead as she goes along her path.
While Shawni and I were working for Lucy, she was having a ball with Grandfather! He even took her to see Grandma Great who gave her a puzzle that she adores!
How blessed we are to have this adorable child! We had soooo much fun with her (and Charity did too). We expect that great things will come from this little girl as we go forward with what we know to make a better world for her than could have been possible, had she been diagnosed 10 years ago! We continue to pray (and send money) for research that will save her eyesight and for dietary strides that will keep her weight in check. Because of several wonderful parents, we realize it’s going to be hard, but possible. Still, as we say in Eyre-land…hard is good!
We love you Lucy!