'Proud of who she is' Ipswich family celebrate daughter with rare syndrome

Molly Humphreys (centre) is a three-year-old little girl from Ipswich, the youngest of three siblings.

Molly Humphreys (centre) is a three-year-old little girl from Ipswich, the youngest of three siblings. When Molly was 12 months old, she was diagnosed with a rare genetic syndrome. L-R: Logan, Molly and Evie Humphreys. - 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. 

Samantha and Martin Humphreys have three children, Logan, eight, Evie (right), five, and Molly (left)

Mum Samantha says Molly is a happy, cheeky little girl. - Credit: Samantha Humphreys

Samantha says that Molly gets very anxious, and can find interacting with people outside the family tricky.

Samantha says that Molly gets very anxious, and can find interacting with people outside the family tricky. However, she loves going swimming and going to her ballet classes. - Credit: Samantha Humphreys

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. 

Samantha says that Molly was a happy baby.

Samantha says that Molly was a happy baby. - Credit: Samantha Humphreys

Even though she is the youngest of three siblings, Samantha says that Molly likes to 'rule the roost!'

Even though she is the youngest of three siblings, Samantha says that three-year-old Molly likes to 'rule the roost!' - Credit: Samantha Humphreys

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  

Samantha and Martin, both 32, say that before Molly was diagnosed, they had been isolated

Samantha and Martin, both 32, say that before Molly was diagnosed, they had been isolated, not knowing how they could help their little girl. L-R: Molly, Martin, Evie, Samantha and Logan Humphreys. - Credit: Samantha Humphreys