DEBRA Lifeline

'People always say that you should feel comfortable in your own skin.

'For me, that's a little harder to achieve.

'That's because my skin is so delicate,

'that even the slightest touch or bump can cause huge damage.

'My name is Sam, and I was born with a condition called

'epidermolysis bullosa, or EB for short, which is currently incurable.

'And over the next few minutes...'

I'm going to tell you about an amazing charity called DEBRA,

who quite simply make life worth living for the 5,000 people

in the UK, like me, who have EB.

'EB is a genetic disorder but it's possible for a parent to be

'a carrier without having the condition.

'So, having an affected child can often come as a complete shock.

'Meet Jenna, who gave birth to Freddie a year ago.'

'My labour was brilliant - everything was perfect to that moment

'when he was born.'

The atmosphere completely changed in the room -

everyone's face went white and you could see that something was wrong.

Freddie was born with no skin on his hands and feet

and began his life in extreme pain.

'He had EB.'

We were told two stories - he could either live a relatively

normal life, or he could die before he was six months old.

That hit me like a brick wall.

Freddie's first few months were touch and go.

You could see he was in agony.

He tried to feed, and he tried to, sleep like a normal baby,

but you could see he barely slept because of the pain,

which, thinking back on it now, is just...

It's heartbreaking.

'Taking him home the first day was a big thing for me

'because I felt very alone.'

'Jenna had to quickly learn how to cope with seeing

'Freddie in constant distress,

'especially during his daily dressing change.'

'I fear that...when he's looking up at me, he thinks,

'"Mummy why are you doing this to me?"

'Because he hasn't got that mindset yet to understand that what

'I am doing to him is to try and help him.'

FREDDIE CRIES

'It's horrendous.'

It's completely heartbreaking.

'But Jenna knows that her DEBRA community support manager, Miranda,

'is just a phone call away.'

Sorry to bother you, I just really needed a chat.

'Oh, that's all right, you know that - any time.'

'I do have difficult days.

'To the point where I do need a phone call.'

Miranda's been my absolute world in all of this.

'Moving house recently,

'Miranda being able to access a certain amount of funds,

'provided us with the carpet for our front room and stairs.

'Obviously with him eventually crawling,

'it had to be a certain type of carpet.

'Having a support worker is having a best friend that knows about EB.'

She's like a very new Mary Poppins to me.

'I still have to have regular help to change my dressings,

'something my mum did until I was 19,

'and now I have carers to help me with this.'

If you live with EB like I do, you have to be really careful to

monitor everything - your pain medication, your wounds,

check for anything different, burst blisters...

You can't let it run your life, otherwise you wouldn't...

You wouldn't go out.

DEBRA have done everything possible to make

life as normal as can be, and that, believe me, is something priceless.

'For an average 11-year-old boy, going out to play is

'something that's done without a second thought.

'But this unfortunately, is not the case for Josh Guild.'

The most frustrating thing about it is that I can't really go out

and play with my mates after school.

The slightest bit of friction could cause a blister or my skin to

peel off.

Josh does have down days.

And, you know, we do get the, "Why me?"

Erm, "It's not fair. I'm fed up of this."

'And I know all too well that a child with EB has to attend

'lots of hospital appointments, which adds to the stress.'

'It isn't just the clinics that we have to go to,

'it's all of the therapy side of things as well.'

-And how are your hands for that?

-They were good.

-Were they all right?

-Yeah.

So what are these? These are new splints, are they?

'Getting used to all of those people around you

'and sometimes you can, you know, get lost sometimes in it.'

'To make life easier, DEBRA has pioneered a kind of

'one-stop-shop clinic for people with EB,

'helping to provide specialist

'dieticians and nurses who work as part of a multi-disciplinary team.

'But for families like Josh's, it's not just the clinical

'support from DEBRA that makes the difference.'

DEBRA have helped us as a family by providing support.

The DEBRA holiday that we had was hassle-free,

it was an adapted caravan so we didn't have to

worry about wheelchair access, it was just a good family time.

'If there wasn't a charity like DEBRA, life would be a lot harder.

'Because it isn't just about, the day-to-day care.'

It's also about the emotional support,

not only for us as a family but also for Josh as well.

Having EB is like the proverbial roller coaster.

Things can be going well but then you can shoot right back down again.

A couple of years ago, I got engaged to my boyfriend -

something I never thought would happen to me.

But that same year, the one thing that everyone with EB

lives in fear of happened - I discovered I'd got skin cancer.

It was a massive, massive bombshell.

Thankfully, I'm cancer-free now,

but when you live with a condition like EB, then you know just

how important it is to make the most of the time that you've got.

And DEBRA really gets that.

They gave me the confidence to realise my dreams

and have helped me to live my life to the full.

From going to university,

getting married, to even becoming a storm chaser.

This might look like madness to you, but for me

it's called living for today!

SHE LAUGHS

But although I make sure my life is pretty full,

the EB is always there with me.

People with EB have to put on a brave face because underneath

it all, it's a life of constant pain and reliance on other people.

And that can take its toll emotionally.

The ultimate answer to all this, is finding a cure and that's why

DEBRA has funded research into EB for the last 30 years.

Funding from DEBRA has made an enormous difference to what

we know about EB.

For example, over the last ten years we've been able to discover

the causes of EB in terms of genes and mutations and that's been great.

But what we need to do now is move forward and take

the advances from the laboratory back to the clinic, and that

means raising funds for clinical trials - trials of new therapies -

genes, proteins, cells - things that can modify EB to improve the

condition and really start to change lives and consign EB to history.

EB has made me who I am,

but I would love to never wear these bandages, ever again.

JOSH: 'I would like to see, maybe, a cure to be found for EB'

just for some area of my skin to be a bit normal.

It is such a big thing for people to be able to donate

and to be aware of this condition so that they can try and help,

to get the cure that we're asking for.

EB is a rare condition, but that means that DEBRA is

absolutely crucial to people who have it,

because DEBRA is the only charity in the UK dedicated to supporting us.

Your money can help make lives like Freddie's

and Josh's more bearable right now

and could even help to find a cure in the future through research.

Please, help if you can.

You can make a difference now, by going to the website

bbc.co.uk/lifeline

where you can donate.

If you haven't got internet access, please call 0800 011 011.

And if you can't get through the first time, please,

please, keep trying.

Telephone calls are free from most landlines.

Some networks and mobile operators will charge for these calls.

You can also donate £10 by texting GIVE to 70121.

Texts cost £10 plus your standard network message charge

and the whole £10 goes to DEBRA.

Full terms and conditions can be found at

bbc.co.uk/lifeline

Or if you'd like to post a donation, please, make your cheque

payable to DEBRA and send it to Freepost, BBC Lifeline Appeal,

writing DEBRA on the back of the envelope.

And if you want the charity to claim Gift Aid on your donation,

please include an e-mail or postal address

so that they can send you a Gift Aid form.

Thank you.