Specialist treatment will give Evie the best chance in life
By Aideen O'Flaherty
THE MOTHER of an eight-month-old baby girl with a rare genetic condition is hoping to raise €60,000 so her daughter can receive a course of specialist treatment in the US, as she’s “very, very behind” other babies her age as a result of her condition.
Emma Nolan, who is originally from Aylesbury and now lives in Bancroft, gave birth to Evie on October 18 last, and at Evie’s six-week check-up it was discovered that she was struggling to gain weight and that she was microcephalic – meaning her brain wasn’t developing properly.
Evie with parents Emma and Keith
Last March, doctors told Emma and her partner, Keith Purdy, that Evie was missing a large part of her X-chromosome and that she had a rare condition called microcephaly with pontine cerebellar hypoplasia, with mutation on her CASK gene.
This condition affects Evie by causing developmental delays, and girls born with a mutation on their CASK gene typically do not walk or find it extremely difficult to do so, and are commonly non-verbal.
Speaking about when her daughter was diagnosed, Emma told The Echo: “I’d never heard of anything like it before, and I was very much in denial and didn’t understand it.
“It was quite a shock for us. We were then admitted to Our Lady’s and we were there for three months, and we learned more about the condition.
“Evie might not walk, she’ll be non-verbal…now it’s just a waiting game to see how she develops so we haven’t got a lot of big answers right now.”
After Evie’s diagnosis, Emma joined a Facebook group for parents of other children with the same rare condition and found out about Dr Konark Mukherjee, a doctor in Virginia who leads a research team whose work is focused on microcephaly and CASK gene mutations.
Dr Mukherjee is based at the Virginia Tech Carilion Research Institute Neuromotor Research Clinic and was involved in carrying out intensive therapy on three girls with the condition and found that the girls advanced an average of 24 developmental months during the course of the therapy.
Emma said: “It’s really intense therapy and physio, and it will be up to six hours a day for four weeks – depending on how much Evie can tolerate.
“Evie shows so much promise already and I know this will give her the best chance in life.”
Speaking about the impact she hopes the therapy could have, Emma said: “Evie has difficulty reaching stuff and sitting up, she’s very, very behind other children her age.
“If, when Evie comes back, she’s sitting on her own and reaching for and playing with stuff, that would be a big deal for us.”
Having spoken to doctors in the clinic that Dr Mukherjee works in, Emma said she was told that “every child is different” and so Evie’s response to the intensive therapy cannot be guaranteed, but Emma said it’s “worth trying anything” to ensure her daughter gets the best chance.
“Evie has a smile that would brighten up anyone’s darkest day, she’s such a happy little girl,” she said.
Emma has set up a GoFundMe page with the hopes of reaching her €60,000 goal so little Evie can get to Virginia next February to receive the intensive therapy, you can donate here: GoFundMe.
