This Family is Fundraising After Two Rett Syndrome Diagnoses

The Munson family is fundraising to make changes to their home, as these adaptations will make life easier for their two children Oscar and his older sister Mary. This is because the siblings have Rett syndrome, a rare neurological disorder. The family hopes to improve Oscar’s and Mary’s quality of life with these changes, which include a sensory room.

Oscar’s and Mary’s Story

Mary, who’s seven years old, is an older sister to Oscar, aged five. Originally, she was diagnosed with severe autism, but it was not until September 2020 that this was corrected. This happened after Oscar received his Rett syndrome diagnosis thanks to the 100,000 Genomes Project.

The siblings’ parents, Thomas and Madalaine, noticed some abnormalities with Oscar’s feeding habits when he was just two months old, as he couldn’t keep milk down. Since then, his symptoms have progressed to severe mobility issues and no verbal communication.

Fortunately, one of the good things about the correct diagnosis is that it enables the proper treatment and care. Now, the Munsons are able to work towards changes and treatments that will improve their children’s quality of life. In fact, they’re fundraising for changes to their home and other services.

The fundraising is intended to support home adaptations, such as a sensory room, a bedroom with a wet room, and more. It will also go towards physiotherapy for Mary to help her maintain mobility.

As of now, the family has raised about £4,000 through various events and support from the community. This number should only go up, especially as White Hart chose the family to be their charity for 2022. They are also currently supported by the charity Tree of Hope.

Read more about their story here.

About Rett Syndrome

Rett syndrome is a severe, rare neurological disorder that primarily affects females. It was once thought to be a form of autism but has since been distinguished as its own condition. It is a genetic disorder, with a mutation occurring on the X chromosome. The exact location of this mutation and its effects are unknown, but researchers do know that it is typically a sporadic mutation. Symptoms of this condition usually appear between the first 12-18 months of life. Effects include slowed brain growth, a small head, issues with muscle coordination, social anxiety, lack of language skills, seizures, uncoordinated breathing, and a tense or irritable disposition.

After these symptoms are noticed, doctors will conduct a clinical examination and rule out other conditions, such as autism. Genetic testing will be used to confirm, and it can also show the severity of a specific case. There is no cure for Rett syndrome, and treatment consists of symptom management. Doctors will suggest physical, speech, and occupational therapy. They may also prescribe anti-seizure medications.

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