RETT Syndrome
RETT family members, caregivers, clinicians, researchers and educators
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My Goddaughter’s RETT journey: Chapter 1.
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My Goddaughter’s RETT journey: Chapter 1.
Noelle’s mother had a mostly typical full-term pregnancy in the physical sense, including a normal to high amount of nausea, and, although her alpha-fetal protein test was abnormal, the amniocentesis was normal. Emotionally, however, it was a difficult time with a huge amount of stress due to both her mom passing away just before she got pregnant and her best friend passing away during her pregnancy. Noelle was their first child, had a normal, epidural-assisted birth and normal APGAR scores. She was a passive, content baby and initially met her expected milestones such as rolling over and sitting independently. When Noelle was about 6 months, we noticed her periodic, atypical hand movements (like both hands waving at the same time) and floppy muscle tone, not trying to push up with her legs or crawl. Her babysitters also indicated that when her mom would arrive to pick her up, Noelle would not react to her when she entered the room and said her name. By 9 months, Noelle’s pediatrician was concerned that her head circumference was not increasing at the normal rate. She was then diagnosed with microcephaly, and Early Intervention got involved with providing developmental, speech, occupational and physical therapies. Her crawl, at that point, was more like a bunny hop, with her 2 hands moving forward, and then knees following. Her functional hand use included reaching for preferred items, picking up and eating cheerios and holding a corncob during mealtimes. During this time, she had multiple appointments with different pediatric specialists, neurologists and geneticists. Over the next several months, Noelle’s hand movements progressed to be almost constant and took the place of her functional hand skills. At her next neurologist appointment, the doctor observed her newly developed hand movements and immediately recognized the high probability of RETT Syndrome. At that time, only a clinical diagnosis was available. Shortly after the RETT gene was identified in 1999, (associated with the MECP2 protein) the genetic test became available and confirmed Noelle’s diagnosis in early 1998, just before her second birthday.
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