BBS Conference and My Kind of Rock Stars

Attending a Bardet-Biedl Syndrome conference gave me a deeper appreciation for the researchers, doctors, and families working behind the scenes to support those with rare diseases. As a parent of a child with BBS, these gatherings feel both overwhelming and incredibly hopeful. If you want more about Lucy’s story in this whole business, I have gathered all kinds of things about raising a child with special needs along with our journey.

What Happens at a Bardet-Biedl Syndrome Conference

I sat for three days in this room (and in some break-out rooms) with these wonderful people:

…listening to doctors and researchers explain slide after slide. I’m pretty sure I’ll always be struggling to learn this crazy doctor/research/ciliopathy BBS language.

The BBS conference was finally here.

Serving on the Bardet-Biedl Syndrome Association Board

As I mentioned after the BBS conference two years ago at Duke — it’s an every-other-year thing — somehow in the whirl of board nominations I became the deer-in-the-headlights vice president of the association. For the last two years I’ve been part of regular BBS family association board conference calls to help bring up BBS awareness and work to get BBS families on the grid for research and help.

I want to remember those calls, always at 6:00pm on Tuesdays, the most crazy part of the day, trying to incorporate schedules and time zones from board members all across the country. I’d always have the speaker turned on my phone as well as the mute button as I drove carpools, fixed dinner, sat at volleyball games, put kids in time-out, taking it off mute here and there to add my vote or opinion in the middle of all the hoopla going on around me.

It was a little bit of a crazy time, but boy howdy, it was fun to be involved. The president of the association, Tim, has taken this association leaps and bounds in the right direction to get BBS families the help they need.

Dave wasn’t able to come with me this time around because it conflicted with some family and work things. I sure wish he could have been there not only to meet the amazing people there, but to help me soak in and internalize all the great things that often take some discussion to fully grasp. But there were some pretty amazing things they talked about and since this blog community has been so supportive of Lucy I needed to keep a record of it all.

The Researchers Behind BBS Progress

Different people get stars in their eyes about different things. Lucy was over-the-moon when she actually got to meet THE princesses at Disneyland. Claire thought she had died and gone to heaven when Mitt Romney appeared at a conference center. All that is fine and good, but my kind of rock stars are the researchers and doctors who do amazing things to help kids like my Lucy.

When you have a child with a rare syndrome your heart is heavy-laden with so much love and appreciation for those who take the time to focus on how to remedy all the things your child faces. I can’t even explain what that feels like.

For the past two conferences we had met at Duke University with Nico Katsanis, the leading researcher there who has a heart of gold. This time we switched things up and held the conference at the University of Iowa to connect with the equally wonderful researchers there.

Val Sheffield

When Tim and I met with Val Sheffield the morning before the conference started, in the midst of trying to arrange all the details before everyone arrived, I was a little bit star-struck.

Arlene Drack

Then I was star-struck again when I met Arlene Drack, who is also a rock star with BBS families. She was running around trying to organize things and did such a wonderful job hosting. Here you can see a speck of her during one of her presentations:

I sincerely wish I could have had a moment to talk to her and pick her brain about so many things. Here are her interns who were fabulous organizers and helpers to pull off the whole event:

Elise Heon

I got to hang out with my old friend from the last conference, Elise Heon.

She is from Canada and has done such a great deal to help BBS families.

Other BBS Board Members

The other members of the board and I got situated before people started filtering in that night.

That’s Tim above on the left, the president who has a son a year older than Lucy with BBS. In the middle is Phil, who has BBS himself and was the total detail-guy for the conference. Those are his kids on the right surrounding Jane, another BBS board member who rocks. I have loved working with the three BBS members of the board and it was so fun to get to know them better. They give me so much hope for Lucy.

Here we are all together:

These guys have all become such great friends over the past two years. Parenting a child with a rare condition like Bardet-Biedl Syndrome means learning to lean on communities like this one.

The University of Iowa Research Center

The University of Iowa was an awesome place for a conference. First of all, Iowa is so beautiful.

And second, the University of Iowa sure knows how to do research.

I am so incredibly grateful to Steve Wynn who has donated so many millions to help with vision research.

Break-Out Sessions

Marshfield Clinic representatives were there as well. We got to see the incredible team from Marshfield who had welcomed us so warmly for Lucy’s appointments the year before. Love those great ladies as well as Dr. Haws, another rock star among BBS helpers.

BBS Families We’ve Met Through the Years

It was so fun to catch up with all kinds of old friends from past conferences and to meet some new ones too.

Loved this cute family from Korea.

And I love this brother who is such a support to his two BBS sisters. These three were so impressive.

Each year we have a banquet to give awards and get to know each other better. This year I got permission from a local church to hold the banquet there. Tim says he’s going to start calling it the “Family Reunion” rather than the “Banquet,” which I love. You really do start to feel like these guys are all family.

Tim gave a special award to Dr. Haws who has done so much to help get the registry started.

Part of Dr. Sheffield’s family was able to come. They are all amazing people and it turns out their son knows my brothers from BYU days. Small world.

BBS Board Elections

We held board elections for the next board.

Darla and I couldn’t stay on because of family stuff. Sad to say goodbye to being in on the details with all these great folks, but pretty relieved too. I wasn’t a very big help with all the house stuff going on this last year. The new two members are incredible and are going to help take this cause so much further.

Rock stars again:

On the last day Ed Stone made me tear up a little bit when he talked about our “Volunteer Army” of BBS families. He got us all powered up and excited about all the research that is in the works right now.

The Clinical Registry

Tim showed us a video made by Bill Alms, who also has a child with BBS, that explains all about the registry we have been raising funds to make happen. With the money our blog community helped raise through the I Love Lucy Project, the beginning of that registry became a reality. Thank you, thank you! The Marshfield Clinic donated the time and resources for the initial development, and the funds paid trained interviewers to work with families to gather and validate all the medical information necessary to populate the registry. The more money raised, the faster we can include people in the registry and the sooner doctors and researchers can get to work developing therapies and treatments for BBS.

All in all, it was a pretty great conference. One of my new friends, another parent with a BBS child, told me he feels like the BBS family has been like a developing country without much support or resources, but that now it is becoming so empowered with exceptional, specialized help. That’s exciting to think about.

It was great to reconnect with other mothers who are going through some of the same things we are.

Braille and the Tools That Help

It felt great to have some of those wonderful BBS people show me their tools that help them cope with life, from their canes to magnifiers to a Braille machine. It felt good to get reaffirmed over and over again how important Braille is, even in a continually more technological world.

It felt good to be connected with people who are sure things are going to happen for this girl of mine. Tim, the president, told me that he’s sure his son, a year older than Lucy, will lose his vision. It’s just too early to have a miraculous cure right now. But with the amount of explosive research going on, he’s equally sure that his son’s vision will be able to be restored.

That felt best of all.

As I flew off to meet up with my family, my heart was full of gratitude for my BBS family I have come to love so much over the years, including all those rock star doctors and researchers who are changing lives for BBS families.

Here’s to many more years to come.

More from Lucy’s BBS Journey

If you want to follow along, here are more posts connected to this one:

• Raising a Child with Special Needs
• My First Bardet-Biedl Syndrome Conference at Duke: Finding Unexpected Hope
• The BBS Conference in England: Finding Hope Among 300 Families
• The BBS Conference at Duke: Our First Time Attending
• Lucy’s Birthday at the Marshfield Clinic in Wisconsin
• The BBS National Registry: How YOU Raised $10,000 for Bardet-Biedl Syndrome Research
• BBS Vision Restoration Research at University of Iowa
• The Buck Stops Here: Parenting a Child with Bardet-Biedl Syndrome
• The 2018 BBS Family Conference with Lucy: Hope, Hard Stuff, and Our Village