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Teenage girl underwent surgery to blind her to relieve pain caused by rare genetic disease
Maisie Doswell, 14, who lives with her mother Karey Mason in Rye, was diagnosed with Myhre . syndrome two and a half years after suffering severe headaches throughout his life.
Maisie Doswell with his mom Karey Mason
The rare disease that affects 30 to 40 children worldwide means Maisie is small and suffers from hearing loss, limited joint mobility and other problems affecting his body system. 19659006] Two months ago, in a big operation, Maisie had a shunt in her brain to relieve the pressure, but she was told it could make her blind.
Karey, 39, from Hastings, said: The pain that Maisie experiences every day is similar to having the worst hangover.
"During his operation, his brain was equipped with a shunt that drains the fluid and ranges from zero to 2.5. We made the decision to set it to 1.5, which means "free", but it also means that there is a huge risk that it becomes blind.
Maisie Doswell was diagnosed with the genetic Myhre syndrome two and a half years ago
"I felt that I had to make a decision between seeing my daughter lying in pain every day with Severe headaches or losing sight "Maisie lost the sight of her left eye and her other eye is really bad."
"It's so hard not to know what the future will hold to your child. "
Karey said that she suspected her daughter had a genetic disease shortly after her birth, but only five years ago when Maisie was referred to Guy's Hospital and St Thomas, London, as the condition began to become clearer
Maisie Doswell was diagnosed with the Myhre genetic syndrome two and a half years ago
Karey and Maisie's father, Ivan Doswell, 47, had to undergo tests and three years later, their daughter was been diagnosed.
Karey added, "It was fine to finally have a name for his condition and to know that it was not just a lot of things that were wrong, but it did not happen. nothing changed as such, very little understanding of how to deal with these conditions and that is why we try to raise awareness by telling the story of Maisie. "
Karey referred to a day of charity called Jeans for Genes that encourages people to wear jeans. the school – September 21 by raising funds for the Sandcastle Trust that helps families of people with rare genetic diseases.
Maisie Doswell after her surgery
She added: "Staff at the NHS, Conquest Hospital, King's Moorfields and Eye Hospital (in Croydon) have been really supportive throughout this whole journey. They have been absolutely amazing to us and we have no idea where we would be without them.
"However, we are trying to raise awareness of genetic conditions in children. There are currently many people out there who have had the idea of being able to raise their money.
"Significantly, there is not enough information out there."
To sign up for your free fundraising pack visit www.jeansforgenesday.org.
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