MSMDS is caused by a specific change in the ACTA2 gene and affects organs such as the heart and kidneys.
As well as the heart condition, Rosie said Lily’s pupils were always dilated. She now needs to wear sunglasses when outdoors.
Lily is one of only 70 people known to have the condition worldwide.
She is under the supervision of Great Ormond Street Hospital and Bristol Royal Hospital for Children.
The BBC has contacted the hospitals, but neither has responded.
Lily’s parents, Rosie and Jonny, have set up a charity, ACTA2 Alliance UK, to fund research into the condition.
They said international research into potential treatments and a cure is being led from Boston, America, while other promising approaches are also being explored in the UK.
“We are speaking to some people in England about research into other treatment options, so that’s one of our current targets of £30,000 to raise towards that for a proof of concept, so we’re really hoping that can be another option, alongside the incredible work already happening internationally,” Rosie added.
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