However, shortly after birth she developed respiratory distress syndrome and was put in the special care nursery. She also developed high billirubin and stayed in the hospital for the first 10 days of her life.

When I brought Elyse home, I didn't have a clue. I was an only child, had no other children and it took a friend to tell me something was wrong (She had three children).

At her 4 week check-up her doctor suspected something and started referring her to specialists. At 2-1/2 months Elyse was diagnosed with a heart murmur, then atrial septa defect (not true). At a return visit to the cardiologist when she was 4 months old he rediagnosed her with patent ductus arteriosis which was corrected.

At ten months Elyse began a once per week early intervention program where she received speech, physical and occupational therapies.

Over the next year the specialists she saw said she was profoundly deaf (I knew this wasn't true), had cerebral palsy or was just fine. Her father said it was my fault, I was an over protective mother. At two years Elyse entered a full day program at the most wonderful preschool (Kohler Child Development Center) in Winfield Park, New Jersey where she stayed until she was six.

A nurse at Kohler called me in one day and asked if I had ever heard of Rubinstein Taybi's Syndrome (what?). She passed on some articles by Dr. R which I read to the best of my ability. I knew this was finally it. I took Elyse to Children's Medical Center in Washington, D.C. at the age of 31 months old where she was finally diagnosed. The geneticist I saw also said Elyse would never be independent.

In the early years Elyse had the problems of most RTS kids, constipation (that was a tough one), reflux, lots of ear infections but was still pretty healthy--no hospitalizations since the heart surgery.
She walked at 31 mos and was toilet trained shortly thereafter. She had the classic stiff gait of rts and could speak very few words.

Now, at 12, she's basically a healthy kid except for the tethered cord and associated scoliosis. She speaks in sentences (hooray), has a sense of humor and is the greatest kid in the world. Now instead of failure to thrive, she's really overweight but we're working on that. As you can see from her pictures has a great smile that lights up my life.