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Cambridge-based Findacure support family to create better life for daughter with rare condition

When Lily was two years old, her parents Nina Knight and Phil Woods were delivered a brutal message.

Their daughter had one of the rarest diseases in the world and past a diagnosis, there was very little doctors could do.

Lily (30144608)
Lily (30144608)

Lily, now 7, had been diagnosed with acrodysostosis type 2, which is characterised by skeletal malformations, growth delays, short stature and distinctive facial features, as well as unusually small hands and feet with short, stubby fingers and toes.

“Our immediate response was one of intense grief. At the same time, we were single-mindedly searching for any information or anything useful we could be doing for our little girl,” Nina, 48, said.

They were told that Lily had learning disabilities and would probably need a lot of support and, as an adult, would not be able to live independently. There is very little that doctors could do outside of treating each symptom with traditional therapies.

Both Nina and Phil, 48, were quick to turn to the internet and found that only 70 cases were known worldwide. There was little else available about options for the families and patients. “We felt abandoned, helpless and very much alone with Lily’s future a bleak mystery,” said Phil.

A geneticist told the parents in terms of research and clinical developments, not enough information was available.

Nina and Phil Woods with Lily, 7, and Harry, 10 (30122726)
Nina and Phil Woods with Lily, 7, and Harry, 10 (30122726)

Nina explained: “One doctor told us that nothing could be gained by reaching out to others affected by the disease. Defiantly, we started looking for anyone who either had acrodysostosis or was related to children with the disease.”

They found the Acrodysostosis Support Facebook group and over the past seven years they have navigated the tough obstacle course that most patients of rare diseases and their families have to.

From shocked parents, Nina and Phil became advocates for research into the disease, building critical connections among medical experts, geneticists and families across the world.

The journey led Nina to reach out to Cambridge-based Findacure and the charity Acrodysostosis Support and Research was born. It calls for more research into the
disease, advocating more patient information that would support such research and future clinical trials; and calls for patient representation through Acrodysostosis Support
and Research.

“We realised that we had to provide the centre, and the bridge, for all those who can, with dedication, focus and funding, achieve relief if not cure for our children,” said Nina.

Findacure is building a rare disease community to drive research and develop treatments.

Lily (30144604)
Lily (30144604)

Dr Rick Thompson, Findacure CEO, said: “We are here to transform the world’s understanding of rare diseases and the devastating impact they have on people’s lives.”

Findacure enables patients and parents like Lily’s to acquire the knowledge, the skills and the confidence they need to become successful advocates for their rare disease. There is training to help gain a better understanding of the complexity of the healthcare system, as well as help in developing systems, such as patient registries, and skills like public speaking and communication.

Nina said Findacure has helped her understand that there are no limits: “At the beginning of this journey, we were simply looking for any slight improvement to our daughter’s quality of life.

“Actually, we are now thinking about a much brighter future.”

The family shared their story for Rare Disease Day on Saturday (February 29). To know more about joining the Findacure visit findacure.org.uk. Support Nina at acrodysostosis.com.

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