Evelyn Tweed MSP met with Stacey McPherson to discuss her son’s rare condition.
Evelyn Tweed, MSP for Stirling, recently met with constituent Stacey McPherson ahead of the CHAMP1 Awareness Day on March 24th. Her son Calum has an extremely rare genetic condition called CHAMP1. Short for Chromosome Alignment- Maintaining Phosphoprotein, CHAMP1 is an ultra-rare genetic disease discovered in 2015. Patients with the condition have less than fifty per cent of the expected levels of a particular protein, which is necessary for proper neurological function and development.
Currently, there are 120 patients diagnosed globally, although it is thought that this number will rise as diagnostic tools become more widely available. Symptoms vary but commonly include developmental delay, speech delay or loss of speech, learning disabilities and some autistic traits or features. There is no cure, but the condition can be managed to allow patients to thrive. So far, Calum is thought to be the only person in Scotland who has been diagnosed, and his mum Stacey is committed to raising wider awareness of the condition.
Commenting, Stacey McPherson said:
“Evelyn reached out to meet and find out more about Calum and his rare condition. It’s nice to have local support from our MSP. Calum is the only person in Scotland that we know of who has a CHAMP1 diagnosis. I do all I can to raise awareness of our rare community of CHAMP1ONS. We just recently had a new family join our group from Czech Republic. The first link to CHAMP1 they found was an article of Calum. This is why I do what I do! No one has heard of CHAMP1 as it’s so rare. Our CHAMP1 Awareness Day gives us the opportunity to share our amazing children with as many people as we can in the hope of finding new families and linking them to our ever-growing community”.
Commenting, Evelyn Tweed MSP said:
“It was a great pleasure to meet with Stacey and learn more about Calum and CHAMP1. It’s clear from Stacey’s stories that awareness raising is vital in connecting the few people with a diagnosis. Initiatives such as the CHAMP1 Awareness Day have an important role to play, and I will do what I can to support this, including through lodging a parliamentary motion. Stacey’s work in this area is excellent, and I applaud her for her efforts.
Support and information on CHAMP1 can be found here: https://champ1foundation.org/