Kids Don’t Come with a Manual: Episode 2 - Duplication Syndrome

Māori neuroscience educator Nathan Wallis tonight deals with a mum of four whose son has a rare genetic duplication disorder - MECP2.

Wallis (Ngāpuhi, Ngāti Kahungunu), meets with Regina, who is struggling to care for her son Te Kaha, who was the first person in Aotearoa to be diagnosed with this disorder.

“He is one of four whānau here in New Zealand, Aotearoa. He was the first one diagnosed in Aotearoa. We even went overseas to Houston Texas just to try and figure out what is happening. It’s been such a hard, hard journey.

“I’ve loved every minute of it, but it is hard when you don’t have the support … You do everything you can for your tamariki, but I’ve struggled to have whānau support, I’ve struggled to have support from our support services and yet here I am with my boy. I love my boy so much but it is hard. It’s not easy,” Regina said.

Educator and child councillor Nathan Wallis.

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.

Watch the full episode tonight on Whakaata Māori at 7.30pm Māori+ on demand.