A mum today told of her “bittersweet happiness” as a screening that could have prevented her daughter’s now incurable condition was introduced to the NHS.
Joanne Wilson, 33, spoke after newborn screening for genetic condition Glutaric Aciduria Type 1, or GA1, was made available by the Scottish Government.
Joanne, mum to three-year-old Emelia, had campaigned to bring forward the introduction of GA1 screening for the condition, which is serious but can be prevented if caught early.
Previously the test had only been available to families living in England and Wales.
GA1 can be avoided if treated before the child is a year old.
Joanne, from Auchnagatt, believes that her daughter’s case gave the legislation, which was introduced in March, the push it needed to be approved for the Scottish NHS.
She said: “Obviously I’m pleased that it is now legislation, but I’m also devastated. If we had waited another two and-a-half years to have a baby, Emelia wouldn’t be living with this condition.”
The screening can be performed during pregnancy and after birth, up until a child’s first birthday. Emelia, who can not walk, talk and uses a feeding tube, was diagnosed with the condition when she was a year old.
GA1 is a serious inherited condition that means the body can’t process certain amino acids – “building blocks” of protein – and this causes a harmful build-up of substances in the blood and urine.
Left untreated, children with GA1 are at risk of brain damage that can affect muscle movement and may, in turn, lead to problems with walking, talking and swallowing.
Despite Joanne undergoing genetic testing during her pregnancy, due to the prevalence of Wilson’s disease in her husband Kris’ family, the GA1 was not tested for.
Joanne, who is Emelia’s full-time carer, said: “Everything was fine at birth, but when she was six months old she had a crisis, leaving her fighting for her life.
“However, it wasn’t until Emelia turned one that we got the diagnosis. Doctors just didn’t know what was wrong because it’s such a rare condition.
“The symptoms were quite hidden at first, because she was a baby, but as she got older and didn’t pass the usual milestones, we knew something was wrong.”
Despite Emelia’s difficulties, Joanne says her daughter is “the happiest girl you’ll ever meet”.
She added: “I believe she is mentally more aware than doctors realise; she is a very clever little girl.
“We are just taking it day by day, but things are getting harder as she gets bigger and heavier.”
Emelia’s older sister Summer, 11, helps her mum manage. Joanne said: “She has just taken it in her stride; she helps me out so much. She has grown up quicker than she should have to; she knows how to put in a feeding tube for example. She is absolutely fantastic.”
Joanne started a Facebook page in order to raise awareness, along with a petition in an attempt to introduce the testing in Scotland.
She believes this action, along with attempts from Emelia’s consultants in Edinburgh and Glasgow to introduce the screening, persuaded the government to act.
“I like to think our little princess has saved some little ones from further suffering. There are probably children out there with GA1 who could still be helped.”
Looking to the future may be difficult for the Wilson family, but Joanne hopes to enrol her daughter in Ellon Primary nursery and potentially travel to Slovakia for an intense physiotherapy course.
She added: “I might also try to create a support group in the future for those with rare and unknown conditions.”