MECP2 duplication syndrome is a severe neurological and developmental disorder. Signs and symptoms include low muscle tone (hypotonia) in infancy, developmental delay, severe intellectual disability, and progressive spasticity. Other signs and symptoms may include recurrent respiratory infections and seizures. Some people with MECP2 duplication syndrome may have autistic features, gastrointestinal problems, and/or mildly distinctive facial features.
The syndrome is caused by having an extra copy (duplication) of the MECP2 gene, and inheritance is X-linked. The syndrome almost always occurs in males (who have one X chromosome), but some females with the duplication on one of their two X chromosomes have some signs or symptoms. Rarely, females may have severe signs and symptoms, similar to those in males with the syndrome.
After reaching dead-end after dead-end trying to get support from the health system, how can Regina recharge herself and be present for her other children when she feels like she is overwhelmed caring for her high-needs child? Living away from whānau and her rohe has added to the stress of this situation.
“Prior to Covid we had support workers. We had about five of them. But now I’m it. They don’t have anyone available,” Regina said.
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