A teenage girl has undergone an operation which risks her going blind in order to relieve pain brought on by a rare genetic condition.
Maisie Doswell, 14, who lives with her mum Karey Mason in Rye, was diagnosed with Myhre syndrome two and a half years ago after suffering severe headaches throughout her life.
The rare condition, which affects 30 to 40 children worldwide, means Maisie is short in stature, and suffers from hearing loss, limited joint mobility and other problems affecting her body systems.
Two months ago, in a large operation, Maisie had a shunt fitted in her brain to relieve the pressure but was told this could cause her to go blind.
Karey, 39, who is originally from Hastings, said: “The pain Maisie experiences every single day is similar to having the worst hangover.
“During her operation her brain was fitted with a shunt which drains the fluid and ranges from zero to 2.5. We took the decision to set it at 1.5 which means ‘free flowing’ but also means there is a massive risk of her going blind quite soon.
“I felt I had to make a decision between seeing my daughter lying down in pain everyday with severe headaches or her losing her sight due to haemorrhages behind her eyes.
“Maisie has lost her sight in her left eye and her other eye is really bad.
“It is just so hard not knowing what the future holds for your child.”
Karey said she suspected her daughter had a genetic condition shortly after she was born but it was only five years ago when Maisie was referred to Guy’s and St Thomas’ Hospital, in London, that the condition started to become clearer.
Karey and Maisie’s dad Ivan Doswell, 47, had to undergo tests and when results were returned three years later their daughter was diagnosed with the extremely rare condition.
Karey added: “It was good to finally get a name for her condition and knowing it wasn’t just loads of things going wrong but it hasn’t changed anything as such.
“There is very little understanding of how to treat these conditions and that is why we are trying to raise awareness by telling Maisie’s story.”
Karey referred to a charity day called Jeans for Genes which encourages people to wear jeans – whether at work or at school – on September 21 while raising money for the Sandcastle Trust which helps families of those affected by rare genetic conditions.
She added: “Staff at the NHS, Conquest Hospital, King’s and Moorfields Eye Hospital (in Croydon) have been really supportive throughout this whole journey. They have been absolutely amazing to Maisie and I have no idea where we would be without them. I cannot thank everyone enough.
“However, we are trying to raise more awareness of genetic conditions in children. There are so many people out there who have no idea but money raised through days like Jeans for Genes could be used to help research a cure.
“There is currently not enough information out there.”
To sign up for your free fundraising pack visit www.jeansforgenesday.org.