Mum of Bannockburn teen with rare gene mutation hopes to increase exposure through awareness day

dailyrecord.co.uk:

The mum of a Bannockburn teenager born with a rare gene mutation is hoping to spread the word about the condition during an awareness day this weekend.Calum McPherson, who is 15, lives with the CHAMP1 gene mutation, which causes severe challenges in speech, with the teen being non-verbal since birth and requiring specialist support through his life.Since the initial diagnosis, mum Stacey has been attempting to find out more about the extremely rare mutation and has set up a Facebook group linking affected families from across the globe.

Those efforts have so far revealed a total of 113 children who have been affected with CHAMP1, with Calum still believed to be the only known case in Scotland.As part of the challenge to increase the awareness and understanding of the condition, Sunday has been designated as International CHAMP1 Awareness Day, with people urged to wear purple as a mark of recognition for the occasion.Stacey said: “There was no awareness of it previously and the efforts to raise that understanding has been entirely parent-led.“We decided on having it on March 20 because it’s recognised as the first day in spring and also coincides with the International Day of Happiness because we thought that was a good message.“The kids face their daily battles and therapies but they’re still happy and we can never take that away from them.“Niagara Falls is going to be lit up for it again and I’ve been hoping to reach out to a couple of the local landmarks here to see if they might be able to do the same.“We’re also asking people to wear purple and consider donating to the CHAMP1 Foundation, with all proceeds going to research.“It’s all about continuing to tell everyone about our little community and getting the word