Shaleigh Nicole Hawkins was born January 11, 1991, in Cleveland, OH, after a normal pregnancy, and an uncomplicated delivery. She joined big brother Kyle (1988), and was followed by 2 more brothers, Lucas (1993) and Reilly (1994).
Weighed in at 5#13oz., compared to 8-9lbs for her brothers. APGAR scores were normal, but she had some visual characteristics of a preemie (though she was one week late). Hospitalized due to cyanotic episodes when feeding (her lips turned blue). Ten days (and multiple tests!) later, was dismissed with a respiration monitor, as she tended to "stop" breathing while asleep. (The monitor only lasted a few months: we quickly learned that she didn't stop breathing: just was breathing too shallow for the monitor to notice.) Also found a lactose intolerance that resolved by age one.
Speech delays sent us to our local MRDD school for evaluation at age two. They worked with her for six months before suggesting a neuro evaluation, which would give the teachers a diagnosis, which would then allow them to approach her education with a better understanding. Miscommunication delayed her evaluation, which was completed 11/93. The neurologist immediately suspected a genetic condition, which was diagnosed as 18q- around Christmas, 1993. (Funny, but with all the neonatal testing she had done, genetics was not one of them…) Bill and I were both tested, and both came up "normal." (Though many who know us would argue that!) Bill found the Registry summer of 1994, and we traveled to San Antonio in July of that same year to participate in the research program. (Shay returned to Texas for follow-up research in Summer, 1998.)
Shaleigh has one of the most limited deletions of those children in the study. Her "problems" are minimal compared to most. Learning delays/disabilities, low muscle tone, failure to thrive, recurrent ear infections, tongue-tied, and "carp-mouth." She was enrolled in a wonderful pre-school program, which started with her delays, and advanced her to an acceptable level for mainstream kindergarten. Unfortunately, mainstream elementary schools cannot afford her the smaller class size necessary to provide the attention she needs, so she continues to fall behind. Her most important accomplishment was learning to read (many problems with comprehension, but her phonics and spelling are good!).
Size runs below the growth chart: I would guess she falls in the "minus 5-10%" level. Has been tested 3 times for growth hormone, and shows a borderline-to-adequate production. Not yet on therapy, but am currently working with her doctors to convince them to try it! (We are fairly certain to begin treatment later in 2000!) Ear tubes placed just prior to 2nd birthday. Still had many infections after placement, but the tubes prevented discomfort by allowing drainage. Tubes finally removed just prior to her 9th birthday!! Hearing has tested normal, holes have healed, and she has not been plagued by infections for some time now.
All milestones were somewhat delayed, but they were each reached! Potty training was difficult, but I now chalk that up to low muscle tone combined with learning/developmental delays. Daytime training was fairly complete in the summer before kindergarten began, with nighttime training completed summer before 1st grade. Due to the delay in training, it never ceases to amaze me that she now sleeps as soundly as she does-- but without accidents.
Currently receives speech therapy, has had some occupational therapy modifications at school (special sized desk/chair, as well as desk-placement considerations). Small-group tutoring for a few hours each day at school wasn't adequate, so she will repeat 3rd grade in a more specialized class (designed to address students' needs on a more individualized basis), mainstreaming when possible. Participates in music, art, gym classes. On an IEP that limits her requirements in math, reading, science, social studies, and PE.
She is exempted from the state-mandated competency tests, but she still takes them for the experience of doing so, and also to give her teachers an idea of what she is learning/retaining.
Shaleigh loves animals, dolls, and babies/toddlers. She has a temper, but I often wonder if that is her frustration at her limits, or if she would be that way even without a deletion syndrome. Has an incredible imagination: not just one imaginary playmate, but she plays host to a whole playgroup! She quickly learned how to manipulate teachers, and begins each school year by testing her new teacher to find out just where that "line" is drawn. (When the classroom becomes boring, or if she just doesn't want to listen/learn, she has pulled every trick from the "I have to go to the bathroom"…..every hour….to "I don't know"/playing dumb, to "I wanted to pay attention but my imaginary friend was talking to me and distracting me.")
Has taken a few years of jazz and acrobats. Currently enrolled in ballet. Plays on a summer baseball league and takes swim lessons each summer. Sometimes doesn't eat much at all, sometimes eats twice as much. Has always been social, but is becoming more immature compared to her counterparts. Very active and energetic, but struggles through busy school weeks (appears fatigued/drained by the end of the week).
We plan to keep her mainstreamed as much as possible, and allow her to participate in whatever functions her schoolmates do. We treat her like a child her age, and expect her to act as such. Most important, we love her, and she loves us! She has taught all of us so much about limits and accomplishments, school systems, medical care, and genetics. Through her, we have traveled places we would not have thought (i.e. conferences) and met dear friends in similar situations. We have been able to educate friends/family/coworkers/strangers about genetics. She is truly a blessing, and we have enjoyed sharing her story with you.
