Mum Talks About Life With 15-Month-Old With Rare, Life-Limiting Condition Which Affects Her Growth

July 7, 2017 | by | 0 Comments
Little Lily-Mae Esfangiary with mum Sally.

Little Lily-Mae Esfangiary with mum Sally.

Little Lily-Mae Esfangiary is a happy little girl and the sunshine of mum Sally Hesketh’s life.

But unlike most toddlers aged 15 months she cannot sit up or crawl and may not live beyond the age of eight.

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

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

Sally, 26, said: “She was born with cataracts and we did not think we would get an answer as to why she was born with it.

“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.”

Cockayne syndrome can be difficult to diagnose early on as birth weight and head size are often normal, as is a child’s early development.

Sally and her finacee Ahmad Esfandiary-Bilvee, 37, were devastated when they were told the news just four months ago.

Little Lily-Mae Esfangiary.

Little Lily-Mae Esfangiary.

“We were told ‘make the most of her’

“I cannot really put what we felt into words – it was just awful.”

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.

Though Lili-Mae is 15 months old mum Sally would put her at about six months in terms of her development.

She said: “It is just like looking after a baby really she does not crawl or sit up but she can roll-over.

“It is not like you can take her to McDonalds like with most one-and-a-half-year-olds.

“I spend the majority of my time trying to make sure she gets something to eat.

“But it’s hard because some days she will eat so much but it just not putting enough weight on.”

Lili-Mae currently weighs a petite 13lb, 9oz and is only in the fourth percentile on the baby growth chart for her size and weight.

The little girl weighed-in at 5lb, 7oz when she was born after being induced due to her small size.

Little Lily-Mae Esfangiary with mum Ahmad Esfandiary-Bilvee.

Little Lily-Mae Esfangiary with mum Ahmad Esfandiary-Bilvee.

Sally said: “The day she was born was the best day ever – it was amazing.

“And she is just such as happy child.

“When I go out the room to make a brew and come back in and notice she has moved it always makes me laugh.

“She just lies there happily babbling away to herself.

“But people are often curious when they see her.

“A woman came up to my mum while she was shopping with Lili and asked what was wrong with her.

“And the sadness that you feel at times like these can turn to anger.

“We just want her to be around.”

Sally and her family are currently fundraising for Amy and Friends – a Cockayne syndrome support group which provides vital help for those struggling with the condition.

She said: “At first I refused to go to the group because I did not want to discuss it all but I feel so much better after speaking with others about the syndrome.

“It gives me hope.”

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