Lucy has a syndrome called Bardet-Biedl (BBS) which causes blindness, obesity and other health issues. Lucy is one of thousands of children who's families are fighting to find cures for this debilitating syndrome. The goal of the "I Love Lucy Project" is to work with doctors and scientists to stop the effects of BBS before it's too late.

Monday, November 18, 2013

let's make a difference for BBS kids!

Dear Family and Friends,

As many of you know, we recently had the opportunity to take Lucy to visit some wonderful doctors at Marshfield Clinic in Wisconsin (HERE).  

We came home armed with information and important updates for Lucy’s health.  But even the most informed doctors can only help us manage Lucy’s health—they can’t treat any of the issues affecting Lucy and other BBS kids because there are no treatments yet. 

BBS is a rare syndrome which makes it hard to conduct research to find and test possible treatments.

Dr. Haws, the doctor leading the BBS Center of Excellence at the Marshfield Clinic is aiming to form a National BBS Registry.  A registry is critical for research because so little is known about this rare syndrome.

A BBS registry will allow doctors and scientists around the world to speed up their research and enable a couple key things:

1) a comprehensive investigation of the causes and effects of BBS which will help us understand what can be done long-term

and

2) it will help doctors test possible treatments and make it easier for them to raise research funds. We don’t want the talented doctors and scientists studying BBS to waste time trying to find people with BBS and running the same medical tests over and over. A registry will let researchers skip a lot of time-wasting and expensive repetitive steps. And that means possible treatments for Lucy and other kids in need sooner.  

So many great possibilities but getting all this essential work underway takes money. 

Lots of money. 

And we want to help.

I believe there is nothing like a group of devoted, passionate families aiming to save their children's vision (and health) teamed up with passionate doctors and foundations...to make things happen.  Together I believe we can be strong.  So strong that we can grab the attention of the Foundation Fighting Blindness and other organizations doing heavy research and approving needed clinical trials that can save those baby blue eyes of Lucy's (and the eyes of so many other BBS kids who's worlds are gradually getting darker and darker around them).

We are passionate about helping any way we can because we know how much this could mean to Lucy's future as well as the future of so many other BBS kids out there.  It is so heart wrenching to watch your daughter lose her vision and struggle with health issues.  We have felt the heart-break of so many other families all over the world as we have met them either at conferences or through blog cyberspace.  BBS is real.  And now we feel like we can DO something about it which makes us feel so empowered. 

Dave and I have committed to help raise $15,000 for the cause (it will take well over $50,000 to get the registry off the ground).  

We would love to enlist your help. 

We would like to invite everyone who lives locally to come join us for the Gilbert Turkey Trot on Thanksgiving morning.  100% of the proceeds go to help children in need.  

The link is HERE.

If you are not local but would like to help, there is a big red "donate" button at the top of this blog that you can click on to make a donation.  

Dave and I are so passionate about this that we are willing to match any funds raised on this blog, which makes any efforts go that much further. 

Please let us know if anyone has any other ideas.  As you can see, we are pretty passionate about this.  Clinical trials take a LONG time and our hearts are just aching to make this a reality for Lucy before it is too late.

Love,
Shawni & Dave


Sunday, November 17, 2013

in the news...

When we were at the Marshfield Clinic last month they took a little video footage for their local news show.  This was after two full days of doctor visits so Lucy is a little zombie-ish by this point, but you get the idea.  SO very grateful for this Clinic and all they are doing to help families like ours!

WAOW - Newsline 9, Wausau News, Weather, Sports





Monday, October 7, 2013

Center for Excellence -- Day 3

October 4, 2013

I woke up to find Lucy sleeping soundly like this:
I think she hardly moved a muscle all night long snuggled up there with yet another new stuffed animal they gave her :)  It took a long time to take off all those wires and get her washed up for her next appointment I tell you!  I met with the sleep medicine doctor while Dave ran off to get her to her next appointment in time.  The sleep test went really well.  They said she has super mild sleep apnea but we're chocking that up to the fact she was so stuffed up from allergies.

PHYSICAL THERAPY


Lucy showed off her skills on balance and dexterity.  I think she is doing quite well in that area, except that every doctor reminded us the importance of weight maintenance.  (Something we are already all too aware of.)


OCCUPATIONAL THERAPY


Lucy doesn't fully dress herself yet.  It's like her muscles can't quite coordinate themselves right to get what she needs done.  She had occupational therapy for a while a few years ago, but we left it behind when she started school and figured she was managing ok.

We realized this week that we need to work harder on those fine motor muscles.  She failed all the small muscle manipulation tests.  (It's a standardized test for manual dexterity where she only scored a 6 which is well below average.)

Our new idea is to get the big kids to help her exercise her fingers.  Mainly things like being able to rotate a penny quickly like this:
 ...and using only one hand to transport small objects one by one to a new spot.
Stuff you don't think about needing to "practice" most of the time.

She also needs to practice with
--buttons and zippers (we need to get her a book or something where she can just practice every day...work it into her daily routine)
--dressing and undressing
--spread butter or peanut butter on bread

She passed the writing test with flying colors.
(complete with a "fence" around the letters for some reason)

We loved her occupational therapist:

We talked through a lot of things to talk to Lucy's school teacher about:

--beware of visual clutter in the classroom...it could take away from her learning because of her eyesight

--take care to be sure there is enough lighting.  It could be so easy for Lu to fall behind if she's not able to see her work as well as the other kids are.  One family there said they had a little lamp on her son's desk at school that worked really well.  Being aware of all this will keep her cognitive abilities up.

--re-think the option of having an occupational therapist work with Lucy at school.

 GASTROINTESTINAL

By this time we were lucky to have a whiteboard in the next room so Lu would stay occupied for yet another check-up.
She sure made good use of that thing.
We learned to keep her going with fiber and lots and lots of liquids, and that things are looking pretty good as far as gastrointestinal issues go.

The last appointment was ENDOCRINOLOGY.
We had all kinds of questions for him, mostly about growth hormone.  She failed the stat test last year, and it was recommended that she take some growth hormone.  Then we didn't qualify through insurance for that because her height is pretty normal.  Looking back I'm pretty glad because it would have been pretty experimental.  I just don't want to mess with things if we don't need to.

Here are the other moms we met:
Such wonderful women all trying to do the very best they can for their children.  There are SO many more out there worrying their guts out each day about different issues with their children, BBS affected kids or not.  We all have those same worries and hopes for our children whether it's physical, social, emotional problems.

How incredibly grateful I am for Dr. Haws and his wonderful team (including Brenda below who organized our schedules).
As we ran off to catch our plane I wondered to myself how do you ever really, truly thank people like that enough?  

For making your life that much better.  

And helping change the course of the life of someone you love so dearly?  

We are wanting to help Dr. Haws with setting up a "National Registry" for kids with BBS.  There are so many unknowns, and so far we have such a small pool of people affected with BBS to draw information from.  There are sixteen different genes affected with BBS.  Lucy has BBS 10.  Others have BBS 1, 4, you name it up to sixteen (there may even be more now).  We'd love to see how different genes affect different kids and try to put some sense to which symptoms manifest themselves in which ways.

The goals of the registry would be the following:

1) Help collect data which would be uploaded so researchers all over the world could access that information to help figure out how to help these kids more appropriately.  They want to find and understand the needs to the best of their abilities.

2) Give families with BBS a list of things they can do and be aware of for their children and actually work with kids to help facilitate needs.

3) Figure out phenotype differences and the natural progression of BBS and work toward finding and linking up with appropriate clinical trials.

They are shooting to have 300 in the registry within two years.  Dave and I want so much to help.  We are working with the BBS board to try to figure out how to fund-raise for this.  There is so much involved in creating a database.  It needs to be web based but with capacity for use of the visually impaired kids and families.  It would help figure out who can benefit most from clinical trials of TUDCA or other new medicines/procedures that could help these kids.  At this point no one center has enough people to do this.  

We want to help Dr. Haws make this a reality and a lot of work lies ahead.

Until then, how grateful we are to have all this information under our belts, and a renewed drive to help Lucy and all those families affected by BBS.

Saturday, October 5, 2013

Center for Excellence -- Day 2

October 3, 2013

It is quite common for kids with BBS to have a variety of issues with their heart, kidneys and sometimes liver.  They often have enlarged kidneys at birth and many tend to normalize over time. Some (like my friend's daughter) have kidney failure and have to get transplants.

So on Thursday we woke up bright and early to check on those important organs of Lucy's.  We have had them all checked before, but we always need to keep an eye on them.  

Our first appointment was a renal ultrasound:

Then an echocardiogram
(Those heart chambers looked pretty good I must say...)

Then an EKG.

CARDIOLOGY
This pretty awesome cardiologist followed up with us on the echo and EKG:
She said Lucy's heart is strong and doesn't show any thickening which is really good.

Next we met with Dr. Haws in NEPHROLOGY (kidneys).  He's the one who started up this whole clinic idea in the first place (the hero of this story as far as I'm concerned).

After reviewing the renal ultrasound I took these notes from what he had to say:

--Lucy's kidneys look normal aside from some fetal lobulation (a more lumpy appearance common in BBS kids).  The cyst she had on her last ultrasound a couple years ago is gone.

--Anything with a tube (heart, kidney, intestines, etc.) has potential to cause problems in BBS and often times there is a deformity there.  Lucy is lucky and all looks good.

--Good vitamin D usually helps to equal good kidney function (we have been supplementing vitamin D for a while now).

--Be persistent with keeping up on blood tests, urine samples...at least annually.  Watch out for UTIs because kids with BBS may manifest symptoms differently from other kids.

--Be sure Lu drinks a lot of liquids, preferably water.  Helps kidney function so much.

Next was NEUROPSYCHOLOGY.

Lucy got to go hang with Amy (below) and do all kinds of tests like she was in school while Dave and I answered a lot of questions from the doctor.
Then we took a break while they continued to work with Lucy.  This whole process was about three hours.  When we were called back in we had some kind of bad news.  The doctor was kind of worried about a few things:

Although Lucy is doing really well with language, she cannot express and articulate as well as she should be right now so she scored below average on that.  She has trouble with "wh" questions so we need to work on that.  But her visual perceptual reasoning is on track.

Things we need to do:

--work on "wh" questions

--pay close attention to reading skills and really sounding out phonics.  She is doing great now and scores high with peers but it's so important to keep that up and make sure she doesn't fall behind.  Work on comprehension and "before," "middle," and "ends" in what we read.

--work on rhyming.  She doesn't understand that concept.

--work on story problems

--think about requesting speech therapy again at school to help with her speech & language pragmatics.

--keep an eye on the possibility for dyslexia.

--keep an eye on autistic tendencies.

Yeah, that's a big list.  Kind of overwhelming and kind of a sad way to end the day.  But by this time in the day and this being her thirteenth doctor appointment over two days intermixed with being poked and prodded I'm not surprised and don't blame her a bit if she was a little uncooperative.  Dave and I were feeling uncooperative and a little grumpy by then ourselves to be completely honest!

But it was a good wake-up call to keep all these things in check.

Next we had a great little dinner with the other families there (more on that on 71toes) and then headed to SLEEP MEDICINE.

Some BBS kids have sleep problems which lead to myriads of other issues.  Lucy doesn't have any problem with sleeping, but as long as we were there, they figured we may as well check.  We knew they'd put a bunch of stickers and wires on her but we had no idea it would be to this extent!

Here's the beginning of the process of wiring her up.
That nurse Tammy was so awesome...we LOVED the accents there and she had one of the best.  Plus she was just awesome.

Here's Lu with a few more wires:
She got a DVD called "Busy Town" at the dinner before, and boy howdy were we ever grateful for that thing.  She could barely take her eyes off of it and hardly noticed all those things going on her. I think she was just plain tuckered out too.

Dave and I were cracking up so much when Tammy put that thing on her nose and she didn't bat an eye.

Here she is ready to sleep.
I got to sleep there with her on those cozy beds and she did perfectly.

More on that tomorrow.

Wednesday, October 2, 2013

The Center for Excellence -- Day 1

Dave and I are in Wisconsin with Lucy right now for a whole slew of Dr. appointments.  This one awesome Doctor decided out of the good of his own heart to start a clinic for BBS families where doctors would know what in the world BBS is, first of all, and so that they could work together to combat the issues involved.  This is the second session they have done, and we were very lucky that they would squeeze us in to this one.  (More details on the main blog over here.)

I am going to report on each day so I can have a record while it's fresh in my mind.

OPHTHALMOLOGY
Lucy's prescription hasn't changed much which is really, really good news.

Lucy's color-blindness was confirmed again...still not sure how/why that can be manifest in girls (I thought only boys?) because we got side-tracked before he could answer that question.

We had requested an ERG (we had one at the National Institutes of Health years ago) to follow up to see how her retinas were doing but decided against it with the timing.

Talked about why Lucy's eyes sometimes seem to work in darkness and other times she is virtually blind.  No definitive answers.

NEURO-SLEEP / NUTRITION

Lucy doesn't have the sleep problems many BBS kids deal with, but we talked about a whole slew of things including nutrition.  This is such a big deal for us and this great doctor has dealt with overweight issues with her own daughter so she had some great advice:

BBS kids have Leptin resistance (they never feel full) so try serving salads with very tiny amounts of dressing before every meal (to fill kids up with vegetables).  Make it a habit.  Dessert only once a week.  Out to eat only once a month (we never eat out anyway).  Have the whole family on the same restrictions.  It can never hurt to make healthy-eating a priority (but I don't think she has a 16-year-old boy :).  Lucy is a schedule-oriented child.  Put exercise into her routine and make it a habit now.  (We were really good at that for a while but need to incorporate it back in..I think she will respond well to that.)

Make a hand-out for teachers so they will truly understand the negative effects of how obesity affects BBS kids in later years.  All kinds of diabetes, leg and joint problems, high blood pressure...you name it.  Put facts on paper so they will take you seriously.

Keep focusing on education.  Work with her in and out of school, especially keep learning going on breaks and in the summer.  One third of BBS kids are not affected cognitively.  Lucy is up there.  Keep it up!

BBS kids have a rough time with motor planning.  That's probably why she still can't ride a bike.  Keep working.  It will be great exercise.

This doctor reiterated that we, as parents, have POWER.  We can essentially change Lucy's life course by doing these things.  Lots of pressure but so true!

SPEECH
I sure wish we lived closer to these doctors so we could see them on a regular basis!  I loved them!  This one talked a lot about visual sequencing and how it will help Lucy to have "graphic organizers" of her days.  She is already so good with schedules, but it will help her express herself and compose thoughts to have visual cues.
They do this bubble-map thing a bunch in school anyway...it would be good to help Lucy do it even more from home to help her be able to describe things more clearly.

GENETICS
So much great information that is in my head and I'm too tired to write, but one thing that really stuck with me is the need for a National Registry of BBS kids.  That way we could really link up more and try to find similarities between all the different types of BBS out there.  Lucy is BBS 10.  I'd love to know what I could expect in her life from a study of other children a few steps ahead of her with BBS 10.

PHYSICAL MEDICINE
This is a relatively new branch of medicine and perfect timing for us who have been really worried about how Lucy's legs pronate out when she walks.  Especially her left leg.

We were able to get her cast for a new orthotic for that foot which we are tremendously grateful for.

More notes tomorrow...too tired tonight!

Tuesday, March 27, 2012

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

Thursday, March 15, 2012

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.