Finding cures for children's genetic diseases

Scarlett's Story

scarlett_4months-(2).jpgAt 33 weeks into her pregnancy, Naomi Sheldon, was told the ultrasound had revealed her unborn daughter’s right kidney was larger than the left. 

There was no explanation, so Naomi carried on with her pregnancy. On 4th July, 2014, Naomi and Michael Sheldon became first-time parents to baby Scarlett.

At one month old, Naomi had Scarlett’s hands and feet plaster moulded as a keepsake of her daughter’s infant years. But it revealed something concerning – Scarlett’s feet were different sizes. She was underweight as well, so Naomi took Scarlett to the hospital where the nurses also noticed the difference in her legs.

At two months of age, blood tests were taken, and at five months, Scarlett was officially diagnosed with Russell Silver Syndrome (RSS), a genetic disorder in which a person fails to grow and gain weight at the expected rate. There’s also a risk of delayed development and learning disabilities. 

“We were in pure shock,” Naomi said. “The medical staff were throwing around big names at me, that even today, I still struggle to get my tongue around.”

Doctors reassured Michael and Naomi that RSS isn’t linked to death or cancer, it just meant their daughter would be small, effectively a dwarf.
 
“I saw how rare RSS is and that worried me. I just wanted to find out who could help and where I could get support from,” Naomi said.
Naomi says there isn’t a lot of information available, but has used Facebook support groups to learn more and discuss RSS with others.

Today, Scarlett is a happy, independent two-year-old, who loves helping mum around the house. She likes to stick to herself, but Naomi is hoping to enrol Scarlett in day-care to help with her social skills.

She’s currently receiving three-monthly check-ups and hopes to be approved for growth hormone treatment in the near future. Leg lengthening surgery is also a possibility when she’s old enough.

Naomi says it’s so important to spread awareness of RSS.

“I don’t want other families to go through this without having access to essential information.”

One day we will beat childhood diseases. Until then, we need your support.

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