Robyn Sharp and her children Leo and Eva were all born with X-Linked Hypophosphatemia (XLH), a metabolic condition characterised by low levels of phosphate in the blood - causing brittle bones, bowed legs and pain throughout the body.
The little-researched condition can also cause the plates making up the skull to become fused - with Leo, now six, forced to have surgery to relieve pressure on his brain, which Robyn describes as ‘trying to break out of his skull’.
And the family were told last year that four-year-old Eva had to go through the same surgery, which sees exposed screws left in the sides of the head that then have to be periodically tightened at home.
The pair’s grandad, Chris, said Eva was getting on well - but Leo, who had been tested for autism, has been confirmed to be on the spectrum.
“She’s started singing,” added Chris, 56.
“And she hopes to go dancing too.
“But we’ve found out Leo is autistic, which is a big thing.
“It’s getting a little bit hard for Robyn - she’s in her 30s but says she feels three times her age.
“She can’t really get out and about, and she gets depressed because she can’t do the things a normal parent would be able to do.”
Autism is thought to be linked to the particular skull malformation that people with XLH have.
But Robyn said Leo - who enjoys art and drawing - had progressed well with support from teachers at The Mill Academy, adding she ‘never thought’ he’d be able to write having previously not even been able to hold a pen.
Despite being told it would be three months, due to the pandemic Leo had to wait 18 months before finally having the screws taken out.
Robyn discovered that Leo had XLH - believed to affect around 250 children in the UK - after he was late sitting up and crawling, but it took doctors a year to give a full diagnosis.
Eva was also diagnosed, but Robyn says her development could catch up to be in line with other girls her age.
Robyn and her family have faced a lifelong battle to raise awareness of their condition, even among health professionals.
She hopes her kids won’t have to live through some of the struggles she’s had - including a broken leg that wouldn’t heal after a fall and severe headaches.
The family have had their spirits lifted by the approval of a new drug, Burosumab, which both Leo and Eva are now taking.
Chris said: “At the moment it’s early days - people don’t seem to know what it is, and when they ask we have to go through it all.
“You say it’s very rare and similar to rickets, and it always gets the same reaction that people think it’s a thing of the past.
“We’re trying to raise more and more awareness, and raise more money into research.
“Last year, we raised £4,000 in total - we want to try to get more this year.
“Maybe someone might want to back us - we go all over asking if businesses want to support what we’re doing.”
The family will be hosting a monthly coffee morning on the last Saturday of each month, starting on May 28, from 10am until midday - where they hope to raise further awareness of the condition.