'Proud of who she is' Ipswich family celebrate daughter with rare syndrome
- Credit: Samantha Humphreys
A family in Ipswich will be celebrating their “cheeky, arty” little girl next week, as they raise awareness of her rare syndrome.
Samantha Humphreys, from Ravenswood, and her husband Martin welcomed their third child, Molly, on December 3, 2018.
When she was a year old, Molly was diagnosed with Cornelia de Lange Syndrome (CdLs), a genetic condition that can affect a person's growth and skeletal system and result in having a smaller body, head, hands or feet.
However, CdLS is caused by changes in one of seven developmental genes, and so can present a range of different challenges.
“When Molly was a baby, no one was too concerned because she was rolling over, laughing and smiling,” explained Samantha.
However, as Molly grew older, she was often unwell.
“She has low immunity, so every cold would turn into something major,” said Samantha.
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“She would throw up mucus every day, and so she couldn’t eat orally.
“For ages, we had no answers, and that’s when we felt the most isolated, because we knew there was something more.
“Then, I happened to be put into a photography group on Instagram with another mum, and her little boy had CdLS.”
The little boy looked similar to Molly, whose condition was confirmed by a geneticist at Addenbrookes hospital when she was 12 months old.
Although they still don’t know why Molly was vomiting mucus, they are now able to manage it by keeping her permanently on antibiotics, and she is much happier, and able to eat without a tube.
Next Saturday (May 14) will be CdLS Awareness Day, and the Humphreys’ are determined to raise funds and awareness of the syndrome, and celebrate their daughter.
“When you get a diagnosis for your child, you might look at the worst-case scenarios. Showing the positive side of CdLS is very important to us,” Samantha said.
“Molly might look a little bit different, she might act a little different, but there is still beauty in her everyday life. She still has joy.
“We are proud of who she is, and that she is different.
"Molly is very vocal in what she wants, she rules the roost."
To donate to the Humphreys’ fundraiser, visit: www.justgiving.com/fundraising/cdlsmolly2022