Fundraiser for Lily-Mae

A young mother is speaking out to raise awareness of the rare condition that her daughter suffers from.

Thursday, 6th July 2017, 1:07 pm
Updated Tuesday, 18th July 2017, 8:46 am
Lily-Mae and her mum

Lily-Mae Esfangiary is often mistaken for a baby, despite actually being 15 months old.

The toddler suffers from Cockayne syndrome, an incredibly rare illness that affects one in 500,000 babies.

The rare disorder is characterised by small stature, microcephaly (small head), developmental delays and premature aging.

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Lily-Mae and her mum

Cockayne syndrome can also be difficult to diagnose early on, as birth weight and head size are often normal, as is a child’s early development - so much so that mum Sally was only told the news three months ago.

“She was born with cataracts, and we didn’t think we’d get an answer as to why she was born with it,” Sally said.

“As she got older, she didn’t really grow or develop as she should have done. She wouldn’t eat or drink and she wasn’t putting any weight on.

“So she was taken into hospital and the doctors said it was a possibility that she had Cockayne Syndrome.”

Lily-Mae and her mum

The 26-year-old, of Worsley Green, Pemberton, added: “I had never heard of it before.”

But in every other respect, Lily-Mae is just like every other child.

“We like to get her out and interacting with other kids. She’s always happy and smiling, she’s just a happy girl.

“But she has loads of appointments with the hospital and physiotherapists. We just try the best we can.”

The syndrome is classed as a rare form of dwarfism and is an inherited disorder whose diagnosis depends on the presence of three signs - short stature, abnormal sensitivity to light and prematurely aged appearance.

In the classical form of the syndrome, the symptoms are progressive and typically become apparent after the age of one year.

Lily-Mae’s grandmother Sue Hodson said: “It’s a really nasty disease. A lot of people will look at her and ask how old she is, and when we tell them her age, they know something is wrong.”

Now the family are organising an event to raise awareness of the incurable illness, which has a carries an average life expectancy of just over eight years.

The fund-raiser at Holland Hall on August 20 will be in aid of Amy and Friends, a Cockayne syndrome support group which Sally heaped praise on.

“They always go out of their way to help you, so it’s nice to do something to give back so they can go on to help others with Cockayne syndrome,” she said.

The family fun-day will include up to 20 stalls, singers, dancers, bouncy castle, raffle and a small auction, all to raise vital funds and awareness for Amy and Friends.

Amy and Friends consists of Cockayne syndrome sufferers, their parents, siblings and extended families.

The group organises meetings for people to share experiences and knowledge of the condition and to gain support from each other.

Local businesses are being asked to get involved by donating items for the raffle and auction. Any companies interested in helping can contact Sue Hodson on 07518 616377.