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When my daughter Nora was born, the only visible abnormality about her was a misshaped right ear. She was a very sleepy baby, needed to be woken up for feedings. About one week after her birth, her pediatrician heard a heart murmur. We were sent to Children’s Memorial Hospital in Chicago, where she was diagnosed with a Ventricular Septal Defect. Doctors wanted her to gain some weight before they did open heart surgery, so my task was to get her to drink her formula and get up to 8 pounds. She did not have digestive problems, just lack of energy. After the surgery (at 3 months), she became more active, ate better, and gained weight at a more normal rate. During her preschool years, she was slow in meeting all the normal milestones: rolling over, sitting up, crawling, walking, talking. She had lots of great intervention: Physical, occupational, and speech therapy. These continued in her school years. Her rote learning, ABC\’s, reading, numbers, early math, was good. She began to show learning problems around 3rd-4th grade. She had extra help in grade school, special ed. in middle and high school. Some things Nora excelled at: playing the piano, memorizing, learning sign language. Some things were hard: social interactions with peers, physical activity, reading comprehension. Nora was tested by a school psychologist twice: 5th grade and 9th grade. These tests showed Nora to have an IQ of about 80 overall, with definite strengths and weaknesses. In her high school years a friend suggested we might get more help if she had a diagnosis, so I took her to a geneticist, who, after an interview, decided to do the FISH test. Then the VCFS (now called 22q deletion) diagnosis was made. By this time, Nora was 16, had no friends, had been seeing a psychiatrist for her behavior issues, was taking an anti depressant. OCD and depression were the diagnoses from the psychiatrist. Nora learned to drive, got her driver’s license, got herself a job at the local grocery store, and acted very independent and defiant during her 16 – 26 years. She hasn\’t been able to keep a “community job” but is now a client of a local agency called Developmental Services Center. This agency helps developmentally challenged people with living skills, job skills, etc. Currently, Nora is dealing with anxiety and panic disorder. She is on 4 different psychiatric medications, some of which make her sleepy, so she does not drive or go to work. Her only outings are with me (Mom) or her Case Manager. She does live on her own, with a Representative Payee paying her bills and giving her an allowance. In all the years of doctors, therapists, and other professionals, we have never met one who has any knowledge of the 22q deletion (formerly called VeloCardioFacial Syndrome). It sure would be reassuring to have her care coming from professionals with 22q experience.

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