Home BBS some heroes, a clinical trial and a suntan

some heroes, a clinical trial and a suntan

by Shawni

I’m so grateful for all the things available in this day and age for a kid with a syndrome. (If you are new to this blog and want to know more about Lucy’s syndrome, click in the “about us” section above as well as the “parenting special needs” in the “deliberate mothering” section and you’ll find much more info.).

People first and foremost.

I’ve talked a lot about Lucy’s friends and how they are heroes to me. Guiding her when she needs help, looking out for her in group gatherings, one of them has plans to do a bake sale coming up to raise money for the BBS Family Association. They are just the sweetest and kindest. Yes, I know I’ve mentioned the friends her age. But have I mentioned that Lucy has other friends who are adults? Have I mentioned that she has an aid that is assigned to her all day in junior high school? It’s amazing and she is the best and I love her so much. (Not that Lucy will accept much help much, she is so feisty, and that is a complicated story for another day), but I have to say our public school system is the best. And the people who help her at school are phenomenal. The crossing guard is always looking out for her, the security guy at the Junior High always makes sure she’s safe. The principal waves at her and knows her by name. I’m so, so grateful.

My friends are also Lucy’s friends and she knows it. We had a couple mornings when we were dropping off the big girls at college where our babysitter wasn’t available to take Lu to school and my friend offered to take her on her tandem bike and get her all situated. Have I mentioned it’s HOT here it the desert for tandem biking? And also that we have a crazy sidewalk to be maneuvered (back HERE). Ha! That good friend of mine even took pictures of Lucy practicing for me, and I love these pictures more than I can say:

Thank you Tonia! (And did I mention Bo Jangles is one of her best friends too?? Yep, she’s the best thing in the world to Lucy, and obviously a good albeit enduring and patient “practice helper” as well).

The second morning Lu was going to need help getting to school I happened to get in on my red-eye earlier than expected so I came back just in the nick of time for our bike ride. Love that Tonia was still here and snapped this for us:

Aw I love my girl.

Ok, so getting ready to post these pictures I realize I’ve neglected to talk about one more person and some medicine that are also helping Lucy in so many ways. There is a doctor in Marshfield, Wisconsin, who has taken BBS kids under his wing. He’s a nephrologist and he had a BBS patient years and years ago and decided then and there that he wanted to help this BBS community in a bigger way. He’s the one behind the clinical registry we’ve been fundraising for each year at our Turkey Trot. He’s the one behind the BBS visits we’ve made to Marshfield Clinic so many times. And he’s the one behind the clinical trial Lucy is part of right now.

She lucked out to be one of the patients involved in “stage three” of this trial to help BBS kids with their battle with so many of the things affected by that with the syndrome. This is why we’ve been traveling over and over again to Marshfield, so many doctor appointments in the beginning. We are now at the point where we only have to go every six weeks, but it’s been a LOT of travel up until this point. And we’d do all the travel all over again in a heartbeat over and over because this medication seems to really be helping. Not only has she lost weight, but she is so much happier. She is so much more agile, able to concentrate on life and other things aside from food, and is just thriving.

There are so many other things that we are thankful for every day with this new development, and if people are interested I’m happy to go into more detail, but I wanted to throw it out there because so many have asked about Lucy’s suntan. Yes, she does get tan in the sun, and sun, of course, is plentiful here in the desert. But one of the side effects of her medication is that the patients get darker skin. At first she was really bothered by all the comments about that suntan of hers, she doesn’t want to be different or noticed for anything particular. But she has learned to embrace it. We all just look at each other in jubilation at her happiness and her thriving spirit right now.

We are just so grateful for modern medicine. Who knows where this will all lead, but we’re grateful to be on this journey to figuring things out.

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29 comments

Heidi dressel September 12, 2019 - 2:20 pm

Lucy, that big smile 😃
If I was 12 I would hope you’d pick me to be your friend !! What a sweetheart ! And I love your tan!!

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Jessica Nelson September 12, 2019 - 3:15 pm

I just figured she was gaining the height that seems to come with your family! She’s cute as ever! Glad there is progress with research and development for BBS! Woooo!!!

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Marsha Kern September 12, 2019 - 3:19 pm

So glad this trial is helping, she looks so good!

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Tammy Oliver September 12, 2019 - 4:33 pm

Lucy has a beautiful spirit inside and out! Her smile lights up the day! Feisty means fun! Keep being awesome Lucy:-)

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Nancy September 12, 2019 - 4:29 pm

She’s as beautiful as ever! Glad to hear she’s feeling such happiness!

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Sabrina September 12, 2019 - 4:46 pm

Thank you for this post. I was curious about Lucy’s dark tan but didn’t think it was appropriate to ask. Glad to read your girl is thriving!

-a long-time reader

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Marie September 12, 2019 - 6:13 pm

Thank you for sharing. We’re definitely Team Lucy! You are both awesome. It is really important to hear inspiration about parenting special needs. 💖

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Kerstin September 12, 2019 - 11:18 pm

Hey Lucy – about your tan: Your skin tone looks beautiful and it should be nothing to be bothered about.

But I get it. I am really small and as a child it bothered me so much. Especially since some made fun of me (not terribly, but still). Then I decided to embrace it and I dressed up as a lawn gnome for carnival. It was funny to everyone and I even won first prize for my costume.

Again, you look beautiful and by the away, you have an amazing smile!

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Heather Burkholder September 13, 2019 - 5:16 am

Thank you for the awesome Lucy post! Man alive has she grown up so much over the summer!! What a true beauty, good luck mom and dad 🙂 I can truly see a difference in her smile in photos, she really just beams from the inside out. Keep on truckin’ Lucy, you are stunning!!!

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Kim Finch September 13, 2019 - 6:03 am

Thank you so much for the explanation about the tan, was not my business so I didn’t ask. Lucy is amazing – not just in her looks ( and she is looking more and more like Grace to me!) Continued best wishes on the trial. Long time reader!

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Rachel September 13, 2019 - 7:58 am

Oh, Shawni!! This makes me so happy to hear about Lucy’s miracle medicine. I think of her and you often and was so happy to hear this news. I can only imagine the relief/joy/love that you feel in all of this. xoxo

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Lissa September 13, 2019 - 8:05 am

I enjoyed this update Shawni and would love to hear more if you care to share….I’m curious about the medical part especially! The pictures do impart a sense that she is more settled into her body! And what a blessing that is in the teen years. Is the pigment change permanent? Is the medication primarily for a decrease in appetite or a metabolic change?

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Shawni September 13, 2019 - 8:10 pm

I think the pigment change is permanent as long as we stick with this current medicine but since it’s a clinical trial there could be tweaks that change that. It’s all new at this point. The medication helps decrease appetite since kids with BBS lack the leptin receptor that helps them know when they’ve had enough to eat. Lucy has stopped hoarding food and her continual focus on that and has been able to enjoy life so much more!

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Misty September 13, 2019 - 7:30 pm

So medical stuff really interests me and I’d love to know a little more about what the medication does for her syndrome specifically. It sounds like it helps with mental AND physical health which is really interesting to me. Anyway, if it isn’t sharing more details than Lucy or you are comfortable with it would be cool to hear more about it:)

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Shawni September 13, 2019 - 8:12 pm

It’s really meant to help with physical health and all the negative side-effects that come with obesity in BBS patients, but I think the mental health is a side-effect that is beautiful to me. Lucy is just so much more able to run around, keep up with friends, focus on learning and school, etc. I just think that makes her happier all around. And it sure makes the rest of us happy to have her so happy!

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Beth Hess September 14, 2019 - 6:12 am

I am so fascinated by medicine, especially as they find new treatments for syndromes. I’m so excited for Lucy and other BBS patients! I’ve never heard of BBS elsewhere, but I’m not surprised. There are a lot of medical things I haven’t heard of! I would love to hear more. It’s obvious in these pictures that Lucy is thriving.

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SHAWNI POTHIER September 15, 2019 - 12:07 pm

BBS is quite rare, something I’ve had to introduce to many studied doctors. That’s one reason why I’m so grateful for this clinic in Wisconsin dedicated to being in-the-know about all things BBS related. There is more information here if you’d like to check it out: https://www.bardetbiedl.org/what-is-bbs

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SHAWNI POTHIER September 15, 2019 - 12:08 pm

Thank you for all the sweet and encouraging comments for Lucy!
xoxo

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Linda Eyre September 15, 2019 - 5:16 pm

Love the new format AND these dear comments. Lucy is truly incredible. What great strides she has made since this trial began. Halluia! Love that girl…and her mom!

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Kelly Anne Rothaermel September 15, 2019 - 10:10 pm

That explains the tan! Thank you for mentioning. While personally, it is none of my business I had wondered because I had never seen her so dark. I am glad she is able to participate in these trials. Yeah for medical advancement! Praying for good results!

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Damaris September 16, 2019 - 9:42 pm

Perfect tan!!!

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Jennifer Christensen September 20, 2019 - 4:01 pm

Hi Shawni,

This is such wonderful news, and I am so happy to hear that Lucy is doing well! I love her smile!
My daughter has a rare medical condition as well that affects her vision and weight (among other things). In fact, that is how we came across your blog several years ago, because someone at church told us that they read a blog and she thought Lucy may have had the same medical condition as my daughter. I would love to hear more about this medication. We go to a pediatric endocrinologist in San Francisco that deals with unusual weight issues, but we have been doing the same medication routine for years, and I’ve never seen weight loss, it’s only slowed down the weight gain.

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Shawni October 9, 2019 - 12:27 pm

Hi Jennifer! I don’t know how this medication works with other conditions (I do know they are working with some other syndromes as well as BBS though). My doctor would be the one to ask. I can get you in touch with him if you’d like more information. Just email me and we can be in touch (sepphotography at gmail). I’d love to hear about the medication you are using as well.
xoxo

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PS October 8, 2019 - 6:52 am

This post makes me so happy. About 7 years ago, I was doing some volunteer work for GARD – the Genetic and Rare Diseases Information Center. I would often google the different diseases just to learn more on my own. I found your blog while searching for Bardet-Biedl syndrome, and I’ve been following ever since! At the time, I remember the BBS entry on the GARD website having some good information, but now when I go to the entry, there is a lot more including the registry, support organizations, and clinical trial info. It’s amazing what humans working together can achieve in the span of a childhood!

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Shawni October 9, 2019 - 12:31 pm

That is very good to know, thank you so much for sharing! We are trying to help get any extra information out any way we can, so glad there is more there now.
Yes, it is pretty amazing how all these interconnections can work together, it’s really a beautiful thing. Thank you so much for your comment.
xoxo

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Heather Johnson October 17, 2019 - 10:07 am

I’m curious about the connection between BBS and food. Does she crave food or is she fixated on food more than typical people?

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Shawni October 21, 2019 - 12:01 pm

Yes, very much so. I explained this a little more in the comments of my newer post over here if you want to check it out: https://71toes.com/2019/10/a-day-in-the-life-of-wisconsin-doctor-visits/

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Shari November 8, 2019 - 9:48 pm

So happy to hear Lucy is doing so well with this new medication. I noticed her “tan” right away because my mom is on a trial drug right now that does the same thing to her skin. I hope Lucy continues to have great success!!

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Karen January 5, 2020 - 2:22 pm

I just went through posts to find out the “why” behind the tan. Lucy has always been beautiful, but my my goodness, her tan makes her even more so and those eyes!! Her eyes pop! Beautiful girl! I am so happy that the clinical trial is successful and hope for many more continued successes!

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