Scots boy's condition affects just 51 people worldwide
Stacey McPherson hopes to take her 12-year-old son Calum to a conference in America.
A 12-year-old Scots boy has a condition so rare it affects only 51 people worldwide.
Calum McPherson, from Bannockburn, is the only person in the country born with gene mutation CHAMP1.
It causes developmental delay along with severe speech impairment. Other characteristics can include short stature and seizures.
His mum Stacey McPherson has told of the "isolation" she faces and now hopes to take Calum to a conference in America where he'll meet others with the condition.
She said: "I would leave [medical] appointments and often be really upset sitting in the car and not knowing what the future holds for Calum.
"Now that we do have a diagnosis, because it is so rare, I probably feel more isolated now."
Only five of the affected families are based in the UK, and in June a conference is being held, bringing children and medical professionals together.
Stacey is now raising funds so she is able to take Calum to the gathering in Florida.
She said: "We are hoping to go to America to meet up with all the families. It's round about £3500 that we'd need to raise.
"It would mean so much for Calum as well. Calum definitely got a lot out of meeting the two CHAMPs he's already met.
"And just connecting with people that are in this exact same situation as you..."
In raising awareness of CHAMP1, Stacey believes it could help diagnose other children whose families are unaware of the condition.
Little research has been done so far, but they hope this conference is a step in the right direction.
"I'm not looking for a magic wand I don't even know if there will be anything there for Calum," Stacey said.
"If I could give him anything I would give him my voice, because he's got so much to say to you but not all the tools and capabilities of doing it."
The family are planning raffles and have set up a Just Giving page in the hopes of raising the funds by June, to ensure Calum makes it to Florida.
Factfile: CHAMP 1
CHAMP 1 is a gene mutation which causes developmental delay.
Only 51 people in the world have been diagnosed, with five of those living in the UK.
Characteristics of the condition include:
- Intellectual disability
- Dysmorphic facial features
- Severe speech impairment
- Short stature