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.


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.)


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 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 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.


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.


  1. Hi Shawni,
    I adore your blog and family :-) I'm not sure how to contact you? My friends son is 7 years old and has been having vision issues for quite some time. The Doctors are thinking he has macular dystrophy or stargarts disease. He needs to have genetic tests and also an ERG test on his eyes. With this devastating news they have been told that the specialist cannot see him until January :-( We live about an hour north of San Francisco. Her husband is a pilot and can travel anywhere to get the testing he needs. Do you have any reccomendations of a pediatric use Doctor? I feel so badly for them. They just can't wait that long for testing. Any suggestions would be such a blessing.
    Thank you, Stephanie

  2. I have an idea that might help Lucy practice zippers. Maybe you could buy one at a craft/sewing store or order one online? that way you could tape/glue the ends down to a piece of cardboard or just have someone else hold them and she could practice without the zipper being attached to a piece of clothing that's on her body. i'm thinking if she could get the hang of a zipper first, then she could progress to zipping a sweatshirt/jacket/pair of jeans that she is wearing. just an idea :)