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.

good doctors

I love good doctors.

Yes, I have had some trouble with some doctors in the past. There was the one who took a phone call on his cell phone from a friend right in the middle of discussing kidney functions with me. And there was an OB/GYN who told me flat out when I was pregnant with Claire that she had Spina Bifida. But really, I know that everyone has their off-days. I know sure do. So I don't expect doctors to be perfect. I just always seem to get my hopes up...maybe too high...that they will understand what we are dealing with. I want them to "speak my language."

I must say that the not-so-good doctors make me appreciate the really good ones even more. The good ones bring me to tears I'm so happy to have found them. They have helped us more than I can ever express. I'm so incredibly grateful for all the years of hard work they have put into research and study to help people like us.

I've been frustrated after many doctor visits not because of the doctors themselves, but because of the situation: I'm dealing with rare things they haven't dealt with before.

Claire, even after her little non-invasive surgery, is still having recurring UTIs (so incredibly sad, but true), and really, the doctor simply hasn't dealt with this much before...the success rate is usually so high. So we have to keep working on it, as frustrating as it is for both of us.

As for me, the mystery is still out as to why I would test positive for Lupus twice with no blatant symptoms. Although I'm not worried a bit about Lupus, per se, the doctors really recommended that I at least get to the bottom of why my kidneys aren't functioning properly. I know I need to follow up on that, but it just tends to get put on the back burner...everything else seems much more important.

And then there's Lucy. Her syndrome is rare enough that the first doctors we visited after we got her diagnosis had never had a patient with Bardet-Biedl before. When they came to meet Lucy and me in their offices for the first time most of them were clutching the basic BBS info. sheet from the Internet...the same one Dave and I had read when we got her diagnosis.

And that was so hard for me. I was looking for someone who knew more than I did. Someone who could tell me what to expect. Someone who knew how to really help us. Of course it's not their fault they didn't know what to tell me, or that all they could do was repeat the same information I had already read on the Internet. They had simply never dealt with it before.

Having a child with Bardet-Biedl can be very lonely least it was for me at first. No one knows really how to help. You can't know what to expect in the future for your child since every case is different. Even others dealing with the same syndrome have vastly varying takes on life and health concerns because each individual is affected so differently. And the doctors with various practices (endocrinology, nephrology, ophthalmology, genetics, pediatrics, radiology, audiology, orthopedics, etc.) don't necessarily work together, so you have to explain to one the same things another has told you (which sometimes gets all mixed up in the process) and you have to keep all the records straight so the same blood test doesn't get done more than once (this has happened a few times to us) and to enable each doctor to build on what the others have to contribute. It's been a tough, emotional, draining process.

So, you can only imagine how I felt when I finally got in touch a few months ago with some doctors at the National Institute of Health. I knew they were doing a study on kids with BBS and I wanted so much for Lucy to be involved...any help we can get is so promising.

The day I finally talked to one of the main genetic counselors there I felt like I'm sure I'd feel after having been lost in a foreign country and FINALLY finding someone who speaks English. This woman was speaking my language. And nothing feels so good after wading through so much medical mumbo jumbo that just didn't make sense for so long.

As this woman explained what, exactly, they are doing with this study and as I explained the tests and procedures I really hope Lucy will be able to have at some point it was like all the stars were aligning and all was right in the world. I understood her. She understood me. And we discovered that this was a good match.

I have been on cloud nine ever since. I'm so excited to meet a team of doctors who have studied and worked with numerous kids who have the same issues Lucy is facing. I'm so excited that those specialists will consult with each other...from so many different medical fields...specifically about my daughter. I'm so excited that we'll be able to provide Lucy's doctors here in the desert with some good, substantial information from the tests she will have there. And that from there we will have such a good foundation to build on.

We were supposed to head out there last week (the National Institute of Health is in Bethesda, Maryland). But because the dates they found for us happened to be right as school was starting, Lucy was getting potty trained, Dave's work was particularly crazy, and I had a huge stake primary function with 300 girls I needed to be home for, we had to put it off for a month or so. I was dying that we couldn't make it right then (I'm SO compulsive anyway), but we'll all survive another few weeks 'til they can align all the dates again.

All of this makes me (and Dave too) thankful all over again for good doctors. Those great ones we have found here in the desert, and the ones we will soon get to meet.

Yes, I love good doctors.