Aside from my children (who ignore me anyway) I do not like to ask people to do things.

Especially when it involves taking people away from a busy Saturday and even more especially when it has anything to do with raising money.

But as the Vision Walk approaches this weekend (Saturday March 31st @ Steele Indian School Park) I feel compelled raise a call to action. {if you do not know about Lucy's syndrome and looming vision loss click here.}

I don't know why it has hit me so hard this last week, but as I sat trying to nail down a strategy for how to get this going last week Claire came and tugged on my arm. "I want to give the vision walk my $60 I got for my birthday," she said solemnly with some tears building up in her eyes. So then of course tears welled up in my eyes too and I scooped her up in my lap and stroked her hair for five minutes. How sweet that girl is.

I told her she should keep her money and work with her sisters to raise a little extra cash for the walk.

So one of the things the girls did with their neglectful parents away so much over the weekend (here) was have a lemonade stand to raise money for the walk.I took that one on my way out the door, and Elle took these on her iPod:

They raised $14.

I know that's not a whole lot.

And honestly, I don't care. I just care that those girls opened their hearts to a need and worked for it.
Because that means they're learning about compassion. And if my children can grow up and leave my home with nothing but compassion I will feel happy as can be.

I know it's rough to give to organizations where you don't know where the money is going. You know there must be a lot of overhead and you worry if your money will really get to the "cause" you care about.

And I can't tell you that I know the ins and outs about how the Foundation Fighting Blindness minds their finances.

But I do know that it is one of our only hopes to help Lucy keep her vision. I get newsletters quarterly that are filled to the brim with all the clinical trials coming up. I scour them for little clues as to what may give us hope to keep Lucy's vision.

The latest newsletter outlined a clinical trial in the works called TUDCA. It is something a new friend (another mother with a BBS child) had told me about before, but to see it there in black and white with reference to how it may help those with Bardet-Biedl (BBS) made my heart thump with excitement (see article here). We mothers of BBS kids want our children to benefit from that drug if at all possible because not only is it giving the scientific world hope that it will help with retinitis pigmentosa (the retinal degeneration that Lucy has), but there is also hope that it will help prevent obesity. That's a big deal since it's the second most significant factor that we worry about with Lucy.

It makes me emotional even to think about the possibilities. I don't want to get my hopes up too high that there could be something on the horizon to make a difference in the life of my daughter. I worry about those hopes getting shattered if I raise them up too much. But this looks solid enough to inch them up.

Gradually.

This clinical trial is happening through the Foundation Fighting Blindness.

We want to fuel the fire to get that study going.

Just the thought compels me to push that much harder to help raise money for clinical trials like this through donating money to the Foundation Fighting Blindness.

Please click HERE and donate to the cause if you possibly can (that's our personal fund raising page). Even a small amount helps. I just want them to know we're serious. We will fight for these children. We will fight blindness with whatever strength we can muster.

Because vision is a rough thing to lose.

Aside from asking for donations (big or small), I'm hoping people can link this post to their blogs and/or Facebook, Twitter, etc. and write up what they can about the Vision Walk.

My sister did such a nice post HERE to help create awareness and is even giving away attendance to a Motherhood Retreat for those who enter. That's a really big deal...those retreats are amazing! And remember to enter Macy's give-away HERE as well!

Obviously you do not need to do a give-away, just helping create awareness and getting those donations rolling is the key.

Please join in our fight.

I thank you with all my heart.

Love, Shawni

third annual vision walk is coming

Our family is gearing up for our third annual Vision Walk on March 31st. We'd love to have anyone join us who can make it. Click here for more information.

new article

I just came across this interesting article. It makes me happy more research is coming along for kids with BBS, but I know we have a LONG way to go. I'm trying to be patient.

Hopeful Strides in the World of Blindness: Our Contributions for Lucy at Work!

(written by Linda Eyre)

The funds we raised last year for the I LOVE LUCY PROJECT (nearly $28,000) have been working for Lucy and the Foundation Fighting Blindness. Of course it is just a drop in the bucket compared to the overall need but every dollar helps to move things along. As you probably know, Lucy who has been diagnosed with Bardet-Biedl Syndrome is destined to lose her vision sometime between the ages of 9 and 15 unless we can intervene with research and new scientific discoveries.

Richard and I (Lucy’s grandparents) attended a lecture a couple months ago at the Utah Chapter of the Foundation Fighting Blindness and were thrilled to hear about the progress being made to help people who are dealing with degeneration of their eyes.

When Shawni and I attended the Bardet Biedl Conference at Duke University in June, probably the two best experts on BBS in the world were in attendance. Dr. Phillip Beales from University College Hospital in London and Dr. Niko Katsanis at Duke University explained that the Bardet-Biedl Syndrome was only discovered about 10 years ago. “We spent 10 years looking for the genes that were responsible for the syndrome. Now our challenge is find ways to help with the disorder.“

While going through the amazing lab at Duke they told us that the main problem with Retinitis Pigmentosa (RP) which is the form of eye degeneration that comes along with BBS is that the light receptors in the back of the eye do not get enough protein and so they deteriorate which eventually causes blindness. The following are discoveries, although they are still in the beginning stages of research, that give us beams of hope. This is in total laymen’s language but is what we understand from what we were told:

• Time-released protein capsules for the eye. There is presently a 5-year study that has been approved by the Food and Drug Administration currently being conducted which involves surgically inserting a tiny capsule about the size of a half a grain of rice in the back of the eye which floats in the vitreous humor which is a thin layer of clear gel that fills the space between the lens of the eye and the retina. That little capsule releases a constant stream of protein so that the eye seems to get what it needs to stop deteriorating. It does not restore sight but stops the progress of the degeneration. They are presently 2 ½ years into the study and so it will be another 2 ½ years before they will have definitive results. But that is pretty exciting! Going from being told that basically nothing can be done to save Lucy’s sight to saying that this looks hopeful is fantastic news!

• Lutein. While we know that Vitamin A is good for the eyes, there are side effects if too much is taken. A new vitamin/herb? Called Lutein has been proven to protect eye health and doesn’t have side effects. Of course giving it to a child would have to be approved by a doctor but it seems to be an exciting alternative to Vitamin A to protect the health of the eye without the problems of side effects.

• Bear Bile. Okay we know this one sounds pretty weird but there truly is a connection between bear bile and eye health. Since this involves bears in China and it since collecting bear bile is pretty complicated, they have now developed a synthetic drug that copies the real thing.

• Stem Cell and Gene Therapy. Although there is enormous hope for gene therapy and stem cell research that affects the eye, the process is far too complicated to explain here. Just to give you an idea of what we learned: There are 6 billion pieces of genetic information in the human body. If each represented a penny that line of pennies would wrap around the world 2.8 times! Apparently if scientists can identify the defective gene in all that they can actually take it out, replace it with a healthy one and the disease will be cured. That not only applies to RP but spinal cord injuries, heart disease and hundreds of other things. It doesn’t sound easy but there is hope that as we continue research it will be possible. The possibilities that come with stem cell research is even more amazing but lots of resources are being poured into speeding up the process. What we learned about stem cells is absolutely incredible!

• Valporic Acid. This is a drug that has been used widely for people with seizures and for some reason when administered to patients with dominant forms of RP slows vision loss.

SO onward we go in our quest to find a way to save Lucy’s sight. These new ideas and discoveries are the best news we’ve had in a long time!

There can’t be a more adorable child in the world. In addition to her precocious nature (BBS kids use more of their brains than most of us…just in different ways) her strong will…testified to by her parents Shawni and Dave, will stand her in good stead as she goes through this life determined to get the good things she wants and needs no matter what!

I Love Lucy t-shirts

Amy, a very sweet "blog friend" is a runner and had some t-shirts made to run her races in. She gave one to her cousin who is also a runner and reporter/journalist to help spread the word about the I Love Lucy project:
(Thank you Nathan!)

Amy sent us a few t-shirts as well. Elle and her friends did a little bake sale to help earn money to fight blindness one day at the beginning of the summer.
We are so thankful for the support group Lucy has!

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 sometimes...at 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.