Blogger mum shares story of life with brave Pearl
ABLOGGER whose daughter has a rare genetic condition is using her experience to help others.
Jane Scott, 46, started her blog – The Wrong Kind of Snow – as a way of recording what family life was like with a disabled child.
Her daughter Pearl, 10, has a condition where the gene GNA01 has spontaneously mutated, affecting the signals to her brain.
Although the condition varies from person to per- son, Pearl has physical and communication difficulties.
Jane, from Bollington, uses her blog to give a ‘warts and all’ view of life in the Scott household – which includes her husband Pete and three children – and has been surprised by how far around the world it has reached.
She said: “I have always like writing and at the time I started the blog we still hadn’t been given a formal diagnosis for Pearl. I wanted to share what we were going through as a family, a warts and all version of our lives. An his- torical record.
“What staggered me was when I started to see it was reaching people all over the world. It was amazing. People with similar challenges were saying ‘thank you’ for making them feel less alone, which was very comforting.”
Jane and Pete didn’t realise anything was wrong with Pearl until they noticed she wasn’t developing at the same rate as other children her age.
It triggered nine years of tests, assessments, scans and biopsies, until last year when Pearl was finally diagnosed.
Jane, a trained speech and language therapist, said: “It was a process of elimination. Bits of Pearl were sent all over the world to specialists until finally they found a mutation of the GNA01 gene.
“I had mixed emotions with the diagnosis. In a way we wanted to know what it was but then we also didn’t want a label.
“To us she is our Pearl. She is charming and funny, and despite her communication being limited by her condition, she understands us.”
A major challenge for the family was not being able to tell people what was wrong.
Jane said: “People would ask what was wrong and didn’t believe me when I said I didn’t know. That’s how I came up with the name ‘The Wrong Kind of Snow’. It was how British Rail tried to explain the disruption of their services in the 1990s, and saying I don’t know what’s wrong with Pearl sounds equally as inexplicable.”
Despite the challenges the Scott family are happy to share their experiences to help others. Jane has even printed some business cards with the blog’s web address to dish out to strangers.
She said: “One of the most challenging things is the reaction of others. People do stare. I want to be able to help them learn more about us by handing them one of those cards and guiding them to the blog – and our lives.”