Name Maria Tabacchi
Born Aug 1987
Gender Female
Diagnosis 10q (q24.3-26.3)
Parents John and Mufi Tabacchi
City Oakmount, PA, USA
Email mufitab [at] verizon [dot] net
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February 21, 2007
Our daughter, Maria Tabacchi, was born in August of 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.

Update: March 25, 2010
Maria is now 22 years old looking forward to her 23rd birthday. She has obsessive compulsive disorder so she does obsess over her birthday, which can be redundant at times. Everyone says their kids grow up too fast, but we have the pleasure of that childlike innocence for a while longer.

Maria is now working at a new Vocational Rehabilitation Center, because she said she didn't like the previous one she was at. The pay was a lot better at the former and she gets discouraged with that. She bags nails for Lowes, Home Depot, etc., puts price tags on sunglasses and folds towels. Her pace is picking up and they are trying to prepare her for a job in the community, but her severe scoliosis is probably going to prohibit her from this. The doctor doesn't want to do another surgery due to her restrictive lung disease and her pulmonary issues. Otherwise she has been quite healthy. We made it through the past winter with only minor colds. All her doctors: nephrologist (blood pressure doctor), orthopedic surgeon, pulmonologist. Psychiatrist, audiologist, opthomologist, and podiatrist have all given her the thumbs up at the six month checkup.

Maria remains strong-willed but has become much more social considering her autism spectrum disorder. She initiates conversations and speaks to strangers. We are trying to help her to fine tune her topics other than the OCD ones she uses.

Maria remains tiny in stature around 4'8" and weighs in at 99-101 pounds. She uses the Wii Fit regularly and tries to stay in shape. She does pig out occasionally but then asks if she should be eating more salads and vegetables which she already knows the answer to. She just wants to hear us say it. She tells us she loves us often and really tries hard to work on her behaviors, but thank God for Risperdal and Celexa and she takes Enalapril for her hypertension.

Well that's all for now. I'll keep you posted in another couple of years. Good luck and God bless to all.

Mufi Tabacchi