RS is an insidious 'little' disorder because it fools
you. The baby girl they hand you in the hospital is perfect in every
way. She's gorgeous, normal, and healthy. And for the 1st year
of her life or so, the unsuspecting parents (especially probably 1st time
parents) have no clue that something is seriously wrong and that their
lives and future as a family are going to drastically change from what
they imagined it to be.
This is certainly what happened to our family. For the 1st year of her life Kelsey was a perfectly normal, healthy baby. Being my 2nd child, I did notice that some of her milestones were a little late, but not much. I was thrilled to have such a good-natured, happy, sweet baby.
In her 2nd year, Kelsey didn't begin to walk until she was 17 months and 1 week old however, and by 18 months she had only 4 words. By 20 months, 2 of those words were gone, and she wasn't acquiring any more. The tantrums were also beginning: she would cry for hours. Every single thing "set her off". She cried for diaper changes, to have her hands and face washed, baths, hair washed, to go outside, etc. I was very concerned, and knew, after her hearing checked out OK, that something was really wrong. I even thought I knew what it was: autism! My hopes and dreams for this child's future were sunk.
In the midst of this sadness though, came a little bright spot. Our beautiful little boy was born on 3/19/96. However, this also slowed me down a bit in aggressively seeking therapy and treatment options for Kelsey. Eventually though, I came across one of the 'best practices' treatment options for autism (because we weren't hearing any arguments against an autism diagnosis), Discrete Trial Therapy, based upon the principles of ABA - - Applied Behavioral Analysis.
Kelsey received DTT for 3 years, and we feel it was very worthwhile. Although Kelsey has not progressed as quickly as some autistic children that we have seen, she definitely made meaningful and significant progress for herself, and that's what counts. Kelsey's neurologist recently told us, "She looks too good to have Rett Syndrome," (Kelsey has a deletion of 4 base pairs in exon 3 at nucleotide 856 of MECP2) and feels that she has only a very 'mild degree' of RS. Of course, *I* believe that all our hard work has actually managed to remediate some of the terrible effects of this disorder, such as the loss of purposeful hand skills. For more information on ABA, check out:
Families for Early Autism Treatment
The New York State Association for Behavior Analysis
An Introduction to Applied Behavior Analysis
The Association for Behavior Analysis
Rett Syndrome Research Foundation
We have been very lucky with the rest of Kelsey's health. She has secondarily generalized seizures, although they seem to be under pretty good control with Lamictal at this time. She has some problems with constipation, and some minor feeding problems. She has some problems with gas due to swallowing so much air during the day, and does a minor amount of hyperventilating and breath-holding. Her ability to walk does seem to be getting worse, but other than that and the usual colds, she has been very, very healthy. For this I say a special prayer of thanks each day.
Please visit my page to check out some of my favorite poetry and other favorite web sites
.Please visit Kelsey's page to find out a little more about her.
