Autism-World

While pregnant with Paige (our 3rd child), toward the end of the pregnancy we noticed I had stopped growing. Stress tests and ultrasounds all were normal, so the doctor decided to induce me just 2 days early because of her poor growth in utero.

During the birth, I had a placenta abruption, and Paige had to be delivered by the nurse! She only weighed 5 lbs. 7 oz. but was otherwise healthy. From the first night in the hospital, she was a demanding little baby! She would only sleep on my chest, and was quite fussy. The first few months continued to be hard. She would cry if I ever tried to put her down, and had “colicky” symptoms at night. She didn’t sleep well at night, and would also vomit frequently. She gained weight, but very slowly.

I noticed her eyes crossed, especially her left one, and she didn’t smile much, or coo or babble. She was late meeting all milestones, like rolling over, reaching for toys, mouthing, etc. When she was 6 months old, we saw a pediatric ophthalmologist who prescribed a patch to be worn on her eye during half of her waking hours.

By nine months of age, the doctor agreed there was cause for concern and so began the battery of tests including an MRI, neurological screening, metabolic screening, and kidney and thyroid tests. All came back normal. At that time, the neurologist said he did not feel that genetic testing was necessary. In the meantime, we got Paige involved in Kentucky’s Early Intervention Program, First Steps.

She made steady but slow progress, had eye muscle surgery, and by age 2, the pediatrician suggested getting genetic screening. A week before the appointment, I found Williams syndrome on the Internet, and knew we had an answer. The geneticist used the FISH test to diagnose her, which came back positive. Now every piece of the puzzle finally fit together. While she did not have the classic heart problems of WS, she had many, many of the characteristics, including the social, friendly personality. She had changed from a colicky, unhappy baby into a delightful, happy, outgoing little girl.

Subsequent check-ups at the cardiologist have shown only a slight heart murmur. Paige is now enrolled in a special needs pre-school and is continuing to make progress. She is such a delight to be around, I have almost forgotten those horrible first few months (but not quite!) - Brenda Noll

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This entry was posted on Friday, August 31st, 2007 at 9:22 pm and is filed under Williams Syndrome.