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.

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!

1 comment:

  1. Hi Shawni! Quick note regarding color-blindness in females, and what might have caused it. Color-blindess is a sex-linked trait that falls on the X chromosome. It appears most often in men since men only have a single copy of the X chromosome, and thus there is no "color" X to cancel it out. However it can happen in females if the mom is a carrier, so one "color" X and one "color-blind" X, and the father is color-blind, . There are also cases of female color-blindness due to mutation but the most common cause is carrier-mom and color-blind dad (aka exhibitor). With the carrier/exhibitor combo all daughters will either be carriers or exhibitors, as they will all get dad's "color-blind" X with a 50% chance of getting mom's "color-blind" X. Those that get both "color-blind" Xs will be color-blind while those that get mom's "color" X with dad's "color-blind" x will be carriers. In this same combination sons have a 50/50 shot of being color-blind, as they can only inherit dad's Y and have the same 50% chance when it comes to mom's "color-blind" or "color" Xs. I did my undergrand thesis on hemophilia in the royal family, which is also an X-chromosome sex linked trait that exhibits similarly to color-blindness. Hope this helps!

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