Mum’s praise for her brave son
A Bannockburn mum has hailed the bravery of her young son to mark Undiagnosed Children’s Day which takes place today (Friday).
The day celebrates children with undiagnosed genetic conditions – some so rare that they can remain undiagnosed.
It took seven years for 37-year-old Stacey McPherson to receive a diagnosis for her son Calum.
The eleven year old requires one-to-one support in every aspect of his life. His main obstacle is his communication. He is non–verbal and uses an iPad app called Proloqu2go for communication.
Stacey said:“Calum was undiagnosed for the first seven years of his life. After taking part in a genetic testing study called DDD (Deciphering Developmental Disorders) we were told in 2015 that he has a very rare diagnosis of a mutation of the champ1 gene. At the moment we are in contact with 37 other families worldwide with this diagnosis.
“Callum’s condition is rare and there’s not a lot of information on the mutation. We’re now the `experts’ according to our doctor’s as we have the insight into other champs through our Facebook community.
“I crowdfunded to raise money to enable me to create a website for champ1 – www.champ1gene.com – this allows us to contact anyone looking to find out more on the diagnosis.
“The bravery of all of the children undiagnosed or with a rare diagnosis should be shouted from the rooftops.
“They are most definitely superheroes. And as for my boy, I always knew he was a little champion and I couldn’t think of a better name to be diagnosed with. Calum is most certainly a little champ.”