Claire Wiegand's Story
My 34-year-old daughter, Claire, has Phelan-McDermid Syndrome, also known as 22q13 Deletion Syndrome. At age 2 1/2, she was tentatively diagnosed with atypical Rett Syndrome. She did not meet all of the classic criteria for an official diagnosis of classic Rett Syndrome, even though her doctors had ruled out any other diagnoses. She tested negative for the MeCP2 gene at age 11 in 2001, and we left it at that for 17 years.
In 2018, she was officially diagnosed with classic Rett Syndrome. Changes in the clinical description of Rett Syndrome over the years, including the removal of some symptoms formerly noted as required, made it possible for her to finally receive the diagnosis at age 28. However, genetic testing again revealed no mutations on the MeCP2 gene, but we were told that 15% of Rett Syndrome diagnoses are not confirmed by a mutation. We were thrilled to have a diagnosis but still didn't feel that it was right.
Two years later, when Claire was 30 years old, we heard about a genetic test panel that tested for 100 different genetic disorders that all cause autistic behavior with intellectual disability, so we paid for the testing out of pocket and received the results in April 2020. It was worth every penny because we finally got the answer we were looking for: a definitive diagnosis of Phelan-McDermid Syndrome, which involves a deletion of chromosome 22q13.3. Many of the symptoms are similar to Rett Syndrome, but some of them are a better match for our sweet Claire. We have since learned that she has Ring-22, where the short and long arms of her damaged 22nd chromosome have attached to each other to form a ring, and that she also has neurofibromatosis type 2 (NF2), caused by Ring-22.
Claire's Arrival - 1989
Claire 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 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.
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/Thomas Bundy