Feet cast held key to Scarlett’s battle
A DOTING Geelong couple’s sentimental keepsake of their daughter’s birth was their first indicator of her underlying genetic disorder.
Naomi and Michael Sheldon were having Scarlett’s hands and feet plaster cast a month after her birth in 2014 when it became obvious her feet were different sizes.
This characteristic, coupled with her being underweight, sparked four months of testing before Scarlett was diagnosed with Russell-Silver syndrome.
The genetic disorder stunts growth and weight gain, and comes with a risk of delayed development and learning disabilities.
Doctors told the Marshall parents Scarlett would be small, effectively a dwarf, and may have difficulties walking because of the impact on body asymmetry.
“We were in pure shock, the medical staff were throwing around big names at me, that even today, I still struggle to get my tongue around,” Ms Sheldon said.
“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.”
Information about the condition has been hard to come by, but Ms Sheldon has found support in private Facebook groups which enabled regular communication with other families who have a loved one with RSS.
Despite her challenges, Scarlett, now a happy, independent three-year-old, reached the impressive milestone of learning to walk unaided last year. She still requires three-monthly checkups and ongoing visits to the hospital and is in the early stages of approval for a growth hormone treatment.
An alternative treatment of leg-lengthening surgery will become an option to aid Scarlett’s development in future but she will have heel raises in her left shoe as a temporary measure.
Ms Sheldon is passionate about increasing awareness of the rare condition.
“I don’t want other families to go through this without having access to essential information.” she said.
Last year Ms Sheldon supported the national Jeans for Genes fundraiser by creating 600 denim-themed cupcakes.
The annual event returns on Friday, August 4, and aims to help the Children’s Medical Research Institute find treatments and cures for the one in 20 Australian children with birth defects and diseases such as cancer, epilepsy and other genetic conditions.
This year, fashion blogger Nadia Bartel, wife of former Cats great Jimmy, is an ambassador. For more information or to register your support visit jeansforgenes.org.au.