FROM the waist upwards Jake Stacey is a happy, healthy, little boy.

Unfortunately, the two-year-old is unable to move his legs properly.

After months of tests and hospital visits, Jake has been diagnosed with spinal muscular atrophy.

The condition affects the nerves of the spinal cord and distorts the link between the brain and the muscles.

Jake’s mum, Lora Fitzgerald, 27, noticed something was wrong about a year ago.

She said: “He was perfectly normal up until about last July when he stopped standing up.

“He had been cruising around the furniture, standing on his own, and then he stopped. Within about five or six months all of the muscles had wasted off his legs.”

Lora, who is engaged to Richard Stacey, Jake’s dad, took their son to Southend Hospital, where he was initially diagnosed with flexible ankles and given orthopaedic boots to wear.

He started physiotherapy sessions but continued to deteriorate.

Lora, of Springfield Road, Canvey, said: “It didn’t make any difference. He just didn’t want to stand and was retracting his legs every time you tried to encourage him to stand up.He was gradually getting worse.”

In December, the family saw another paediatrician, but blood tests and an MRI scan returned clear.

In April, Jake was referred to Great Ormond Street where he was seen about a month later.

Lora said: “They were absolutely fantastic.

“They put a microphone into his muscles with a needle, which we weren’t great fans of, and it went into his calf, arm and under his chin.

“Within about five minutes they gave us the results and said the messages in his brain weren’t getting to the nerves in his muscles.

“They took blood and send it off to genetics and they looked at his DNA.”

The hospital discovered Jake had inherited two recessive genes from his parents, who are both carriers of the spinal muscular atrophy condition, meaning he would develop symptoms.

Lora said: “I was expecting the worst so it was a case of, ‘right, we’ll deal with it, it’s still Jake and we’ll get on with it.’ “We’re now doing as much as we can to keep him active to build up the muscles, which are still working.”

Statistics show one in 50 people are carriers of the condition and, because it is a recessive gene, there is a 25 per cent chance of two carriers having a baby who develops the disorder.

Lora said: “It will gradually progress upwards.

“At the moment he will still crawl and walk with help – we’re waiting for a walker to be delivered. He will eventually need a wheelchair and it will get to a point where he won’t be able to sit up.

“It may affect his respiratory system and it may get so far that he won’t be able to hold his head up. They don’t know how quickly it will progress.

“He may need a wheelchair in the next few years but it may then slow down. But the doctors don’t know because everyone is different.”

Jake still goes to Little Tewkes Nursery, on Canvey, twice a week to spend time with his friends.

Lora said: “He is a very happy and very cheeky little boy.

“He’s very cuddly and doesn’t shut up – he sings all the time.”

Lora is now organising a sponsored walk from Canvey Building Supplies, in Point Road, to Hadleigh Castle, to raise money for the Jennifer Trust For Spinal Muscular Atrophy, which funds research into the condition and supports people affected by it.

The walk will take place on Sunday, September 14 with people meeting at 10.30am to start at 11am.

There will be a raffle taking place when walkers reach the park and they are asked to bring food for a picnic.

If you would like to take part, provide sponsorship or prizes for the raffle e-mail Lora at lorafitzgerald@yahoo.co.uk