Maria Tabacchi
February 21, 2007
Our daughter, Maria Tabacchi, was born August 28, 1987 and is now 19 years old. She has partial trisomy 10q+ (q24.3 -> q26.3). She is 92 pounds and 52 inches tall. She has a speech delay, but is totally verbal. If prompted to speak in full sentences, which she does, people can understand her better. She is ambulatory and totally independent. Maria wears two hearing aides, but can hear without them. She has a minimal hearing loss. She wears glasses, but her eyesight is getting better with age. She had strabismus which 2 surgeries has corrected. She has severe scoliosis and has had neck fusion and 2 rods inserted in her spine. Both surgeries were scary due to her restricted lung disease and the anesthesia. Both times she was on the respirator for almost a month. At one point she wore a halo and full body cast after surgery, which she tolerated well. She also had a halo traction applied at the Shriners Hospital in Erie for a month to prepare her for her rod surgery. She also had surgery to correct eyelids. She had kidney surgery to correct ureters that had an obstruction on one of them. She was born with double ureters on each side of her bladder. When operating on her ureters they found a cyst, which was removed. Maria has a small hole in her heart (VSD), which they have no plans on operating on. She has webbing of the skin between the second and third toes. She has had some significant behavior problems, particularly feeding problems and head banging in the past, but these have fortunately responded to therapy at the Rehabilitation Institute in Pittsburgh. She has hypertension.
The medications she is on are risperdal for behavior problems, lexapro for obsessive- compulsive disorder and enalapril for hypertension.
She is doing well with these medications and currently and other than her OCD, has no significant behavior problems.
Blood was taken by both parents to compare against Maria’s to look for any specific genetic markers on that part of chromosome 10. Nothing abnormal was found with her parents.
Presently she attends a special needs private school, which we love. Maria began attending The Children’s Institute when she was 3 years old. She will be there until she is 21. She goes to a workshop 2 times a week, which is preparing her for the work environment soon.
Maria loves computers and watching home videos. She has an excellent memory and remembers what car people drove from 10 years ago including the color of their seatbelts. She is not a social butterfly and prefers spending time alone. She also prefers adults to people her own age. If you give her a calculator she can do math problems. She has difficulty spelling, and is on a 2nd grade level. She can read chapter books. Swimming is an outlet for her. She can cook simple dishes like macaroni and cheese, heats leftovers up in the microwave and helps clean up around the house.
She has a younger sister, Heather (13), and an older brother John. (23). We love Maria very much and couldn’t imagine life without her. Her laugh and sense of humor are contagious.
--- Mufi Tabacchi
| Name | Maria Tabacchi |
| Birth Date | Aug 1987 |
| Gender | Female |
| Diagnosis | 10q (q24.3-26.3) |
| Parents | John and Mufi Tabacchi |
| City | Oakmount, PA, USA |
| mufitab[at]verizon[dot]net (change [at] to "@") |
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