Friday, August 27, 2010

Bardet-Biedl conference & Duke University

I need to keep up on this blog a little better...and keep track of all the things happening in Lucy's life. So I'm adding a few posts from my family blog that are really about the "I Love Lucy Project." So here you go:

Speaking of good doctors, I haven't yet sat down to write about the Bardet-Biedl conference we went to back in June.

And that's no good, because it was really an amazing conference (thanks to my sweet friend Mary and her helpers along with some outstanding doctors).

After our family trip to Washington D.C., I flew to North Carolina: to meet my mom here:(Duke University) where the conference was held.

I'm not going to lie. I was nervous as could be.

I can't really explain it, but it's so tough for Dave and me to confront what may happen in the future with Lucy. We know all the possibilities, and we know there's nothing to do but face them as we arm ourselves with the best knowledge and help we can get. But still, it makes us nervous to face it all head-on. So Dave was ok to just take the kids home from D.C. and was happy my Mom could come go with me.

I must say after all our trepidation my mom and I were so pleasantly surprised because confronting what's in store for Lucy wasn't at all the doom and gloom we had pictured. Sure, the majority of attendees who had BBS were getting around with canes and were dealing with some quite serious weight and kidney issues. But many of them held (or had held) jobs, one just got accepted to college, one or two were married, and a couple of the younger kids looked as if they didn't have any obesity issues at all.

There are two doctors who have gone above and beyond the call of duty to help families dealing with BBS. One of them (Dr. Beals) was there from London, and the other (Dr. Katsanis) has his offices at Duke. We got to take a tour of the labs where Dr. Katsanis and his team do most of their research:Check out all those different bottles full of things they use to mix in with the DNA and figure out a better way of life for so many:
This is a robot doing much of the initial, tedious back-up work:
Here's my mom scoping out cells of zebra fish they are using to conduct new kinds of research:
Dr. Katsanis offered up his beautiful home for us all to gather for dinner that evening. It was quite amazing to be able to mingle and talk with SO many who are dealing with such similar issues (I think there were around 150 people there).
Here's Dr. Katsanis with Dr. Beals (who came from London) on the right with a researcher on the left bidding us good night after a very informative evening.
The next day we went to classes all day covering everything from the nitty-gritties of DNA and kidney transplants to how to access all kinds of help as well as day-to-day low-vision aids.

Of course, we were glad to have a few minutes between things to explore the Duke University campus:
I love the details. Check out those faces carved in the stone on either side of the door above.

It was gorgeous.
(But it still can't quite beat Wellesley ;))
I'm just so incredibly grateful to all the people who put this together and for all the hard work it reflected. We came home armed with so much good information and hope for the future.

Probably the best thing that happened at the conference as far as I'm concerned was that I met one mom in particular who has a daughter about a year older than Lucy. This mother has been able to help her daughter in ways I hadn't even thought of before...with supplements and serious eating guidelines, and good doctors all combined. We have been in contact quite a bit since the conference and I must say the first e-mail she sent jam-packed with enough useful information to literally swim in made me cry. And then the second one did too. I was so happy to have been able to meet people who give me so much hope for Lucy.

And there's nothing quite like having hope like a light in the darkness for the future of someone you love.


  1. I came across your blog through I am also an LDS mom in the desert helping a daughter through a serious health issue (mainly endometriosis, we think -- or at least hope that's the bulk of it.) I love seeing that you can enjoy the beauty of Duke campus even while learning medical things. And yes, medical things themselves can be beautiful with their color-coded caps and orderly disorder. I haven't posted on my blog about my girl's troubles, but maybe I have the guts to do it now. Thanks.

  2. I also saw you on facebook through and followed you here. My kids are grown and I guess I have to say I'm thankful that they didn't have anything other than ADHD that I had to learn to deal with. You sound like a wonderfully strong mother and example, and I wish loads of blessings to you and your family. Hopefully, you can use your blog to share some of that helpful information with other people who are looking!

  3. We'll keep praying for success in finding ways to help Lucy. She is delightful and we want her to enjoy life to the fullest. She is a blessing to our family. Our hearts are with you.

  4. Hi Shawni, I just found your 'I'm a Mormon' video and followed the links back here. Conicidentally, I have a friend who's shown me your blog a few times and she's an avid follower. Me, I'm a full-time worker so not much time outside that (and my other job, photography).

    Anyway, after just a quick scan of this blog, and not really doing any research on what you've been dealing with, I thought I'd share this video with you by a man in my stake. I believe he has the same condition as Lucy.

    If that link doesn't work then please look up Lorin Nicholson in the 'I'm a Mormon' videos. You'll see there are things that Lucy can do :-)

    Take care


  5. Hello!

    My family was at the conference you attended, in fact my son Sam is in one of your photos. Unfortunately we missed the last conference. I have just started a blog about Sam- starting from day one...I have along way to go but my hope is to help and inspire others along the way. I thought about sharing my post of the BBS website.. Here is the link