October 4, 2013
I woke up to find Lucy sleeping soundly like this:
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:
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.
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.
By this time we were lucky to have a whiteboard in the next room so Lu would stay occupied for yet another check-up.
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.
Here are the other moms we met:
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.