Speaking of good doctors (in the post before last), I never wrote 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. Beales (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.

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  1. I actually juuust found your blog, but I have been reading your book,
    "A Mother's Book of Secrets," for months ever since I had my first baby. it has been such a huge source of help and encouragement for me. And I appreciate it.

    With that said, I know you will do great with Lucy. I think you're too hard on yourself sometimes. There are so many people within your circle to help.

    Annnnd I must put a plug in for Duke. My brother goes to the law school and that university is SOOO gorgeous. It is so historical and I love the architecture. Absolutely breathtaking!

  2. I knew you would love photographing the architecture! Maybe next time you're in NC it won't be so hectic and we'll be able to connect. (And maybe not in the summer with all that humidity!)

  3. The conference looks like such a valuable experience! I hope that the people you met and the knowledge you gained there help you with Lucy's future.

    Since she got diagnosed, I've been doing research about her condition, simply because I want to feel like I can begin to understand. I have a chalkboard on the wall behind my desk, and for a long time now, it's had 'I love Lucy' in big pink letters written on it.

    Reminds me every day of not only how you have one of the most sweet and spunky little girls I've ever seen, but how I should always do as much as I can to help causes like the foundation for fighting blindness, to help children like Lucy.

  4. Yaay! I am so happy for you Shawni. It must have been so validating to be with others who share your plight. I can't imagine the "not knowing" with something so serious. I am so happy you finally have some "real" direction to go in with helping Lucy(thank god for the internet..right?!) I have had to deal with some serious medical issues with my grandmother this summer (no comparison) it is so true that one good doctor can make all the difference. Somone who truly cares and understands how much this person you are trying to care for means to you. A good doctor understands (even welcomes) that you are just trying to help your loved one by asking questions and being as on your game as you can be (it must be even more exciting to meet doctors that are just as excited about finding answers as you are!) I can relate to the balancing act you must feel. To be able to devote the time and energy to what will help you in Lucy's journey is a full time job. To have to be a full time mom on top of it to four other children and do it all well must seem a daunting task. They are all Lucy to have you and such a wonderful extended support system. Just keep taking it one day at a time…your doing great!

  5. It's amazing how they can help using modern science. It's also amazing that there are people/doctors/researchers who are out there and willing to commit so much to figuring this stuff out. It must have been such a relief to find someone who you can share ideas and methods with…it's like finding an American in a foreign country.

  6. Shawni…so thankful you found a glimmer of hope and light to help and guide you. It's wonderful to have support and knowledge. You guys continue to be in my thoughts and prayers.

  7. Shawns,
    The conference must have been so great for you. And how fun that you got to see Duke. I fell in love with that campus when Marie and I spent the summer in Durham and then I spent A LOT more time there when Andrew and I were engaged.

    Loved your pics of the campus. I might have to get one of those as a gift for Andrew sometime.

    I can't believe I missed you while you were here. Hope you are well. Love you.

  8. This post just made me smile for you. I can't even imagine first, getting her diagnosis and not knowing much and second, going to doctor after doctor with them not knowing what to do to help your daughter (no fault of the theirs, it's just such a rare disease).

    What a comfort for you and your husband right now. Kudos to the doctors at the conference!!!

  9. I am really glad you enjoyed conference Shawni! Dr. Nico is so wonderful, opening his home and his lab, and sharing his WONDERFUL lab assistants with us. Meeting the other families each time, for me, is the best part. I can honestly tell you I remember very little of what Dr. Nico shared (Much to the dismay of the NIH I am sure) (LOL) But the feeling I have when I am with the other families living with BBS is the best feeling ever – it is the feeling that my girls are normal – and there are other kids just like them, and that we have the same story! I love seeing my old friends and making new ones that share the same stuff I do! It is like a family reunion in my opinion – and I can't wait to see my BBS family in 2012!

    I love it –

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