UPDATE!! Sabrina has had her KIDNEY Transplant! She has done exceptionally well following transplant. Special thanks to her loving MOM, her HERO, who donated her kidney!
Sabrina is doing great in school, in a self-contained classroom. She still has developmental delays and is about 2 1/2 years behind where she should be. However, this year alone she caught up 2 years. She receives speech and visual therapies as well as physical and occupational therapies, in school and is doing great with Braille reading. Academically she is ahead of kids her age. Her current teacher feels that Sabrina may be mainstreamed in a few years and she expects her to do well.
In July, 2002, Sabrina received her wish from the Make-A-Wish Foundation. We went to Disney World, where she got to meet all her favorite characters, especially Pooh Bear.
Sabrina's vision has remained stable these past 2 years, but her ophthalmologist declared her legally blind in 2002, estimating her field of vision at approximately 19 degrees.
Sabrina was born by planned c-section because she was a full breech and the doctor was unable to turn her. She was born a month premature and weighed 6 lbs. 8.8 oz and was 18.5" long. A week prior to her birth the OB did an amnio to determine if her lungs were premature and was only able to extract 3 cc's of amniotic fluid. The following week they decided against another amnio because of the low volume of amniotic fluid. Not until recently did we find out that low amniotic fluid is directly related to decreased kidney function. Sabrina and Monique (her Mom) went home on June 11th.
Sabrina had no problems, received a bit of oxygen after birth, but nothing more. My daughter was under full anesthesia, I was in the operating room and did the first "examination" of Sabrina. To my surprise Sabrina had 12 perfectly formed toes and a skin flap on her right hand with a nail (but no bone). She also had a tiny nub on her left hand. Her finger was removed at 2 months when the pediatrician tied it off. The toes were surgically removed on December 18th, 1997. There were no metatarsals, however, the doctors had to "shave" one of the metatarsals since it appeared to be "split". The surgery was uneventful and Sabrina went home with us that same afternoon.
Sabrina developed relatively on schedule, although she might have been a bit slow reaching her milestones. However, she rolled, sat, stood, all in due time. She started cruising the furniture at about 13 months. This did not concern us since Monique did not start walking until 15 months. We just figured she was following in her mother's footsteps.
In January 1999, while at a well baby check up Monique mentioned to our family practitioner that she was concerned that Sabrina was not walking yet. He agreed and referred us to an orthopedist to see if something might have gone wrong with the surgery. The ortho told her that nothing seemed wrong with Sabrina's feet, however, he felt that she was hypotonic and hypermobile. He suggested that we go see a neurologist to rule out any other disorders.
Our PCP then referred us to Children's Hospital here in Oklahoma City, to be seen by a Developmental Delay clinic. The doctor there did not see "anything wrong" with Sabrina, but said that if we did not feel comfortable with his dx, we should contact the Early Intervention people. Since we indeed did not feel comfortable with his almost callous attitude and snap judgment, we called Soonerstart, and Sabrina was evaluated by a team of their experts. They came out January 25th and determined that Sabrina had global developmental delays of up to 50% and that she indeed qualified for services.
All during this time I have been surfing the internet to match Sabrina's "symptoms" with various diseases and syndromes. The things that kept creeping up time and again was the high incidence of kidney disorders in conjunction with polydactyly. Given that information we again went to our PCP and asked for a referral for a kidney screen. Sabrina was subsequently seen by Urology at Children's and later also Nephrology.
We have seen an ophthalmologist, who did an exam after dilating Sabrina's pupils. At that exam he did not note any anomalies. However, at that time we did not yet suspect LMBBS so we did not ask for an ERG/VER.
The reason the geneticist indicated BBS was because I mentioned to him that it keeps coming up in my research. He did not volunteer this during our visit, and he DID admit knowing very little about BBS, but that he would "study up" on it.
I need to mention that Sabrina, who turned 2 on June 9th, started walking about 2 weeks before her birthday. She continues to be a happy and healthy child. The perceived obesity as observed by the geneticist is disappearing now that Sabrina is walking. The microcephaly had been noted by our PCP in the past but since Sabrina's father has a rather small head, and her head circumference is growing at an adequate pace, he did not feel that it had any bearing on a diagnosis for Sabrina.
Sabrina is currently quite mobile. She is receiving physical therapy once a week throught the Early Intervention program. This will most likely be discontinued at her 6-month evaluation since her goal of walking has been achieved and her PT is going on maternity leave.
Sabrina loves the water and a big help for her was when we bought a small swimming pool at Wal-Mart. It's depth is about 30" and it's 12 ft. in diameter and she loves walking in the (for her) chest-deep water. This has helped her muscles and her sense of balance, which in turn helped her with her walking. You see, Sabrina suffers from hypotonia, so her muscles don't always work very good. It takes her probably an hour to "get her balance" after she wakes up in the morning, or after her nap. And for a while she appeared to have leg cramps at night, which caused her to cry inconsolably for a long time. When we found out that rubbing her legs helped, the nightly crying bouts were pretty much licked. The hypotonia will never go away because she is unable to "tone" her muscles like other people can. So she will always be weaker than a "normal" person.
She is receiving speech therapy twice a week right now and the results are mixed. I guess we have to give it some time. Her receptive language skills are fairly poor, which is why she does not speak. She has what is called "scattered skills". She will say things for a while and then she seems to "lose" the skills again. In a lot of respects Sabrina is quite advanced for her age so we know the skills are there, we just need to find a way to bring them out.
We do not have any problems with kidney function at this moment. She does have some kidney issues but the nephrologist does not seem too worried about it. He just wants to see her back in a year. However, the urogolist has her scheduled for another ultrasound in August, so I guess they are keeping close tabs on it.
The pediatric ophthalmologist has determined that she has the beginning signs of retinitis pigmentosa and has scheduled her for an ERG the end of July to do a baseline exam so he will be able to determine the degree and speed of the degeneration. Sabrina is nearsighted, and will most likely need glasses after the doctor has done the ERG. Her corrections stand at -1.25 in both eyes.
Our plans are to take a couple of prolonged trips when Sabrina is about 8 or 9 years old, to see the sights, so she will always have the memories to carry with her.
We know that losing her sight is not going to be the end of the world for Sabrina. Besides, I have already read about retinal implants of a computer chip that could conceivably give a blind person at least functional eyesight. Who know what will be available in 10 years from now. We are keeping the faith, as always, because a diagnosis of BBS is not a death sentence, as are so many ugly diseases in children.
If you wish to contact Dr. Lewis about the LMBBS Study being conducted please write to him at:
Dr. Richard Lewis M.D., M.S.
Cullen Eye Institute NC-206
Baylor College of Medicine
1 Baylor Plaza
Houston, TX 77030
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Cullen Eye Institute NC-206
Baylor College of Medicine
1 Baylor Plaza
Houston, TX 77030
BACK