Finding cures for children's genetic diseases

Ellie's Story

ellie1.jpgEllie was born a happy and healthy beautiful girl but just 4 weeks into her life things started to change.

At 4 months of age, Ellie weighed 300 grams less than her birth weight.

Originally diagnosed with Fail to Thrive, Ellie continued to be tested for multiple diseases, however limited medical resources meant she could only be tested for a maximum of 3 diseases each time.

Just when they thought they had tried everything, in 2015 Ellie’s mum, Natalie received a call from her Genetic Specialist informing her that they had just received a new machine which would be able to test numerous syndromes at once and Ellie was a perfect candidate.

After 3 years of the unknown, Ellie and her family were finally provided with answers. Ellie was diagnosed with Noonan’s syndrome, BRAF mutation.

Noonan’s syndrome affects one in 1,000 to 2,500 people around the world.  Noonan's syndrom affects the proteins and pathways responsible for proper formation of various types of tissues during development, and has impacted Ellie’s physical and mental development.

ellie2.jpgEllie undergoes constant physio and occupational therapy to try and gain greater control over her muscles as she suffers from low muscle toning as a side effect of Noonan’s syndrome making everyday tasks like walking and sitting difficult.

Ellie became so use to being fed by a naso-gastric tube after being in and out of hospital since she was 4 weeks old that she is now hesitant to eat solid foods, such as bananas, as she fears she may choke.

Not only does Ellie struggle with eating, she also suffers from a growth deficiency as a side effect of Noonan Syndrome, placing her in the 3rd centile for weight and below 0.3 centile for her height. 


Despite these struggles, Ellie is still a bright and happy 3 year old playing with her 2 older brothers and having started swimming lessons this year. Ellie is out to prove that despite her size she is a strong fighter!

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

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