My -year-old daughter, Claire, may have a variant form of Rett Syndrome. Although she does not meet all of the classic criteria and does not have the official diagnosis of classic Rett Syndrome, her doctors have ruled out any other diagnoses for the time being. She tested negative for the MeCP2 gene in 2001, but we haven't had her retested since additional mutations were found on the gene. Until we get a definitive diagnosis one way or another, I hope other families will find her story helpful.
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Claire's Arrival - 1989
Claire Suzanne Wiegand was born in July 1989. She was ten days early and in a hurry to be born on her Daddy's birthday. She weighed 6 pounds, 3 ounces and was 20 inches long, with Apgar scores of 7 and 8. She was very cold, however, and was whisked away to a special incubator to warm up. She was easy to spot in the hospital nursery since she was the only one in a stocking cap.
My pregnancy had been fairly normal, except for an episode of bleeding I had around 12 weeks, followed by an abnormal alpha feto protein test. A follow-up AFP test came back normal, so the theory is that the bleeding I had caused the abnormal result. My blood type is 0 negative but so is Claire's, so there were no problems with Rh incompatibility.
Claire was a good baby, who didn't cry very loudly and who easily fell asleep during breastfeeding. At her two week checkup, she hadn't gained any weight, so she was put on a supplemental diet of formula. After five more weeks of breast and bottle feeding, we went to the bottle completely. Years later, after successfully breastfeeding another baby for a year, we discovered that a weak suck is one of the early symptoms of Rett Syndrome.
Claire was a happy, cheerful baby, who seemed fairly normal and met milestones on time for the first six months. Some of the things that were just a little different about Claire included: a gap in her top front gums (and later, teeth), one eye that didn't open quite as much as the other, a nasty habit of projectile vomiting with little warning, and constipation. When Claire didn't sit up at six months, her pediatrician told us not to worry yet. When we noted that she seemed thin and did not like to eat solid foods, he again told us not to worry. At nine months, she still wasn't sitting up and he recommended occupational therapy (OT) and physical therapy (PT), but he still wasn't concerned about her eating or weight, but we were.
Eventually, we ended up at Riley Hospital for Children, where skinfold tests indicated that she was malnourished and an upper gastrointestinal (GI) test indicated that she had gastroesophogeal reflux. After receiving a lecture from the doctor at Riley on nutrition, we fired our pediatrician and found a new one. Claire was put on a special high-calorie formula diet immediately and was prescribed Reglan for the reflux and Kondremul for constipation. Meanwhile, she began receiving OT and PT once a week at St. Francis Hospital. There, she received her first official diagnosis, Sensory Integration Dysfunction, and we got our first taste of working with therapists. We learned about skin brushing and vestibular input and how sitting in a W-position is bad. With therapy, Claire quickly learned to sit up and to crawl by 10 months, and discontinued therapy by 11 months.
Copyright © Deborah Schilling