UK Family Faces the Challenges of Rett Syndrome

According to a story from Belfast Live, parents Tara and Glenn Blaine didn’t take long to recognize that their newborn daughter Mia was not developing normally. Ultimately, the little girl was almost two years old when she was diagnosed with Rett syndrome, a progressive rare disorder. Mia is eight years old now and has never been able to walk or speak; meanwhile, the Blaine family has become dedicated to helping raise money for Rett syndrome research and treatment.

About Rett Syndrome

Rett syndrome is a brain disorder that become evident early in the lives of its female patients. The disease is caused by a genetic mutation that affects the MECP2 gene. This gene is found on the X chromosome. Boys who have this mutation typically die soon after being born, so Rett syndrome almost exclusively affects girls. It occurs as a spontaneous mutation in the vast majority of cases and is rarely inherited from parents. Symptoms include sleeping issues, difficulty speaking, poor coordination, scoliosis, seizures, small head size, slow growth, and repetitive movements. There is no cure for Rett syndrome, and management focuses on maintaining function and alleviating symptoms. Life expectancy for patients is around 40 years. Death often occurs sponatenously, and is often linked to brainstem malfunction, gastric perforation, or cardiac arrest. To learn more about Rett syndrome, click here.

Mia’s Story

Just recently Mia’s uncle William ran in the Belfast City Half Marathon and raised money for an organization called Reverse Rett, a group that helps people that are impacted by Rett syndrome. The family says that Mia is somewhere in the middle of the spectrum as far as disease severity is concerned. Nevertheless the eight year old needs constant care and faces serious, debilitating symptoms such as epilepsy, problems with swallowing, and scoliosis. 

Despite Mia’s challenges, the family can tell that she really enjoys life on a daily basis. Tara says that she is always very excited for school and enjoys books, television, and being outdoors.

To help support the family’s fundraising efforts, click here.

To learn more about Reverse Rett, check out their website here.

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