大象传媒

Ella is from Chesham and has just turned 1. She has a condition called Spinal Muscular Atrophy or SMA which was diagnosed when she was 10 weeks old.

She cannot breathe unaided, has to be fed through a tube and will never be able to walk or talk. As you might imagine, her disability has a significant impact on her parents Jack and Natalie and the rest of the family.

They have a 5 year old son called Aiden and a 10 week old baby called Charlie. They know that Charlie is a carrier but doesn鈥檛 have the condition, but have not yet had Aiden screened.

After being fobbed off by clinicians for the first couple of months, her parents went back to their GP who noticed she was quite limp and sent her for tests which showed she had the condition.

The late diagnosis led to complications and soon after she began to have breathing difficulties and ended up in intensive care.

Now, she spends her entire life lying on her back or side. Her parents Jack and Natalie can only get her around in an adapted buggy which allows a child of her age and size to comfortably remain in that position.

They have been fundraising for a specially adapted car that can take the buggy and a passenger in the back. Ella is under 3 so her parents don鈥檛 qualify for funding for a vehicle. But they have successfully raised 拢9,000 of the 拢15,000 they need to buy and run the vehicle and have now put down a deposit on one.

The message they really do want to get out, is about awareness of SMA. They say that their late diagnosis meant Ella didn鈥檛 start getting the treatment she needed soon enough and they want parents to be aware of the condition and how it can affect children.

There is some hope. She is currently on a drug trial which has shown signs of slowing the progress of the condition. Doctors said she wouldn鈥檛 make her first birthday. But she has and she鈥檚 still smiling.

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