Support group is a lifeline for Lutton family as doctors fail to diagnose Elsie’s mystery illness

Elsie (right) with mum Laura and big sister Rosie. SG02117-104TW
Elsie (right) with mum Laura and big sister Rosie. SG02117-104TW
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Results from the pioneering 100,000 Genomes Project are the best hope of finding a diagnosis for a little girl’s condition.

Elsie Smith (2), from Lutton, has baffled doctors from the day she was born. Mum Laura Casey (33) has lost count of tests that Elsie has had at Queen Elizabeth Hospital, King’s Lynn, and Addenbrooke’s in Cambridge.

Laura said: “At the beginning of 2016, our geneticist at Addenbrooke’s basically said the NHS won’t spend any more money doing any more genetics testing because it’s like looking for a needle in a haystack. Rather than leave us in the lurch, he referred us to The 100,000 Genomes Project.”

The project will reveal the complete genetic codes of around 70,000 people, including those like Elsie, with rare illnesses, and cancer patients, before ultimately creating a new genomic medical service for the NHS.

Laura says: “They look at every single gene and chromosome from scratch and it can take up to two years.”

In the meantime, Elsie’s family have found a lifeline through a support group called SWAN (Syndromes Without A Name).

Laura found out about SWAN by accident through a family contact and is now spreading the message about its work so more families can seek support.

She said: “There’s lots of people out there who don’t know what’s wrong with their children – there are parents with 16-year-olds and 21-year-olds who don’t know anything.”

Finding SWAN has been a massive help because Laura chats online to other parents who have gone through similar things.

“Talking to other parents that know exactly how you feel is a massive weight off your shoulders,” said Laura

Elsie is now about four or five months behind where she should be developmentally. Soon after birth she was taken into the neonatal intensive care unit with breathing difficulties.

“They started noticing things like she’s got odd looking feet and her hands aren’t quite right,” said Laura.

Although she had her second birthday in October Elsie doesn’t walk, roll or crawl, and doesn’t talk, but is vocal at times.

“She’s always happy,” said Laura. “She’s like a little breeze. She’s lovely. She’s really contented.”

Laura has a big sister, Rosie (7) and dad Martin Smith.

• For more on SWAN visit www.undiagnosed.org.uk or email miriam.ingram@undiagnosed.org.uk