Interview: Family begins battle to get their little girl on the move

She giggles and laughs as she holds an imaginary tea party with her adoring parents Andrew and Amy and it is clear that she a very bright and happy little girl. At 20 months old, she should be exploring the world around her and getting into mischief.

But for Beatrice this will never happen. Beatrice Howden will never walk.

She suffers type 2 Spinal Muscular Atrophy, a rare genetic disease which stops signals from the brain getting to the muscles, causing them to become weak and wasted.

Children with type 2 SMA can usually sit unsupported but can't stand or walk. A child can be affected only if both parents carry a faulty gene.

"It is just terribly bad luck that both Amy and I have this faulty gene," says Andrew from Whitley, North Yorkshire.

"It has been very hard coming to terms with the fact that Beatrice will never walk and could have other problems such as breathing difficulties. But she seems to have compensated for this by being a particularly bright and cheerful child. She surprises us on a daily basis with the things she can do."

What makes the situation doubly hard for the Howdens is that Beatrice was only diagnosed with SMA in July this year and by that time Amy was seven weeks pregnant with a son, Henry.

"We were given genetic counselling and told there was a one-in-four chance that Henry would also have SMA," says Andrew.

They were offered a test where a sample of the placenta can be taken, but there was a chance it could cause a miscarriage.

"Amy had already suffered a miscarriage in January and we didn't want to take that risk. Also the only reason for finding out if the baby had SMA was if you planned to terminate," explains Andrew.

"Looking at Beatrice and the joy she brings to our lives there is no way we would have had her terminated and so we have decided to go ahead with the pregnancy."

One of the hardest things for Andrew and Amy is not knowing what type of SMA Henry will have, if he is affected at all.

There are three types of SMA.

Type 1 is the most serious and normally develops before or shortly after birth and usually proves fatal. Type 2 is what Beatrice has and is known as "intermediate" where SMA develops between three months and two years.

A child will be able to sit by themselves but not stand or walk unaided and can survive until adulthood. Type 3 is a mild form of the condition which normally develops at around two years and the sufferer is able to walk and have a normal lifespan.

"Henry is due in January and there is a test that can be done at birth and you find out a week after that. We have never doubted we have made the right decision although we are scared to death," says Andrew.

However, at the moment their main focus is on Beatrice and their campaign to get her mobile.

Get Beatrice Mobile is a fund-raising campaign to raise the 20,000 the family needs to buy a special electric wheelchair for Beatrice.

The NHS won't fund a powered wheelchair until Beatrice is at least three because they say children that young cannot control the vehicles.

But it only takes one look at the videos on Beatrice's website to see what a difference the SnapDragon chair could make to her life.

The chair lowers to ground level and rises to allow Beatrice to stand which really helps her condition.

Youngsters from around the world visit the Cambridge workshop where the SnapDragon was designed by Dan Everard, whose own daughter who suffered SMA started using a power chair at 18 months.

"Children Beatrice's age should be out exploring and getting into mischief," says Andrew.

"I long for the day when I can tell Beatrice off for doing something she has been told not to because I know she will have gained some independence that she cannot have at the moment.

"When she tried out the SnapDragon it was amazing. She mastered the controls so quickly. It was like seeing her take her first steps."

But the Howdens now face the uphill battle of raising the 20,000 needed to buy Beatrice the bespoke chair.

Thanks to family, friends and local businesses they are a third of the way but speed is important as the earlier Beatrice gets her chair the greater the benefit to her.

"One of the key attributes of children with SMA is that they're smart – really smart. I suppose it's a bit of balance. Limited mobility at a young age, however, can limit opportunities for learning and exploring the child's environment. Therefore early access to mobility is imperative – we want Beatrice to have as close to the same mobility as a normal toddler and this can be achieved through the SnapDragon powered chair," says Andrew.

Andrew, who was recently made redundant, is taking on an Iron Man Challenge in Wales on September 11 next year which will see him swim 2.4 miles at sea, cycle 112 miles and run a marathon (26.2 miles).

"I cannot swim very well, I've never been a fantastic runner and I keep falling off my pushbike, but when Beatrice was diagnosed I wanted to do something to help my family. In a situation where I have no control over what happens to my daughter, it was important for me to find something that I could control. So I came up with the idea of the Iron Man Challenge. I cannot wait to give Beatrice the medal when I have completed it. "

Harrogate cycle shop Boneshakers has given Andrew a bike for the challenge.

The Howdens know that the future will be hard for all of them. They will need to move house and get things specially adapted for Beatrice and possibly Henry.

Above all they want their little girl to achieve her full potential and live as full a life as possible with as much independence as she can. "We believe Beatrice has a right to mobility and we are going to do everything we can to make sure she gets it."

A fashion show is being held at the White Hart Hotel in Harrogate on Friday, November 26 at 7pm. Tickets 5 on the door. All proceeds go towards Beatrice's chair.

For more information visit www.getbeatricemobile.com and to sponsor Andrew's Iron Man Challenge visit www.justgiving.com/getbeatricemobile.

Spinal muscular atrophy

Spinal Muscular Atrophy (SMA) is a neuromuscular condition causing weakness of the muscles.

The gene for SMA is passed from parents, but SMA can only affect a child if both parents carry a defective gene.

Each child of carrier parents has a 1 in 4 chance of being affected by SMA.

Boys and girls are affected equally

There are three types of SMA: type 1 – most severe children do not normally survive beyond two years; type 2 – able to sit but not stand and survival into adulthood possible; type 3 – mild, able to walk and have a normal lifespan.