0:00:09 > 0:00:13'People always say that you should feel comfortable in your own skin.
0:00:13 > 0:00:16'For me, that's a little harder to achieve.
0:00:16 > 0:00:19'That's because my skin is so delicate,
0:00:19 > 0:00:23'that even the slightest touch or bump can cause huge damage.
0:00:24 > 0:00:26'My name is Sam, and I was born with a condition called
0:00:26 > 0:00:32'epidermolysis bullosa, or EB for short, which is currently incurable.
0:00:32 > 0:00:33'And over the next few minutes...'
0:00:33 > 0:00:37I'm going to tell you about an amazing charity called DEBRA,
0:00:37 > 0:00:41who quite simply make life worth living for the 5,000 people
0:00:41 > 0:00:43in the UK, like me, who have EB.
0:00:44 > 0:00:48'EB is a genetic disorder but it's possible for a parent to be
0:00:48 > 0:00:50'a carrier without having the condition.
0:00:50 > 0:00:55'So, having an affected child can often come as a complete shock.
0:00:55 > 0:00:58'Meet Jenna, who gave birth to Freddie a year ago.'
0:00:58 > 0:01:02'My labour was brilliant - everything was perfect to that moment
0:01:02 > 0:01:04'when he was born.'
0:01:04 > 0:01:07The atmosphere completely changed in the room -
0:01:07 > 0:01:11everyone's face went white and you could see that something was wrong.
0:01:11 > 0:01:14Freddie was born with no skin on his hands and feet
0:01:14 > 0:01:16and began his life in extreme pain.
0:01:16 > 0:01:18'He had EB.'
0:01:18 > 0:01:23We were told two stories - he could either live a relatively
0:01:23 > 0:01:27normal life, or he could die before he was six months old.
0:01:27 > 0:01:29That hit me like a brick wall.
0:01:29 > 0:01:31Freddie's first few months were touch and go.
0:01:31 > 0:01:33You could see he was in agony.
0:01:33 > 0:01:36He tried to feed, and he tried to, sleep like a normal baby,
0:01:36 > 0:01:39but you could see he barely slept because of the pain,
0:01:39 > 0:01:41which, thinking back on it now, is just...
0:01:41 > 0:01:43It's heartbreaking.
0:01:44 > 0:01:48'Taking him home the first day was a big thing for me
0:01:48 > 0:01:50'because I felt very alone.'
0:01:50 > 0:01:53'Jenna had to quickly learn how to cope with seeing
0:01:53 > 0:01:55'Freddie in constant distress,
0:01:55 > 0:01:58'especially during his daily dressing change.'
0:01:58 > 0:02:02'I fear that...when he's looking up at me, he thinks,
0:02:02 > 0:02:04'"Mummy why are you doing this to me?"
0:02:04 > 0:02:09'Because he hasn't got that mindset yet to understand that what
0:02:09 > 0:02:11'I am doing to him is to try and help him.'
0:02:11 > 0:02:14FREDDIE CRIES
0:02:14 > 0:02:15'It's horrendous.'
0:02:15 > 0:02:17It's completely heartbreaking.
0:02:17 > 0:02:21'But Jenna knows that her DEBRA community support manager, Miranda,
0:02:21 > 0:02:23'is just a phone call away.'
0:02:23 > 0:02:26Sorry to bother you, I just really needed a chat.
0:02:26 > 0:02:29'Oh, that's all right, you know that - any time.'
0:02:29 > 0:02:31'I do have difficult days.
0:02:31 > 0:02:33'To the point where I do need a phone call.'
0:02:33 > 0:02:37Miranda's been my absolute world in all of this.
0:02:37 > 0:02:39'Moving house recently,
0:02:39 > 0:02:42'Miranda being able to access a certain amount of funds,
0:02:42 > 0:02:45'provided us with the carpet for our front room and stairs.
0:02:45 > 0:02:48'Obviously with him eventually crawling,
0:02:48 > 0:02:50'it had to be a certain type of carpet.
0:02:50 > 0:02:55'Having a support worker is having a best friend that knows about EB.'
0:02:55 > 0:02:59She's like a very new Mary Poppins to me.
0:03:01 > 0:03:04'I still have to have regular help to change my dressings,
0:03:04 > 0:03:06'something my mum did until I was 19,
0:03:06 > 0:03:09'and now I have carers to help me with this.'
0:03:09 > 0:03:13If you live with EB like I do, you have to be really careful to
0:03:13 > 0:03:16monitor everything - your pain medication, your wounds,
0:03:16 > 0:03:19check for anything different, burst blisters...
0:03:19 > 0:03:23You can't let it run your life, otherwise you wouldn't...
0:03:23 > 0:03:24You wouldn't go out.
0:03:24 > 0:03:27DEBRA have done everything possible to make
0:03:27 > 0:03:31life as normal as can be, and that, believe me, is something priceless.
0:03:33 > 0:03:36'For an average 11-year-old boy, going out to play is
0:03:36 > 0:03:38'something that's done without a second thought.
0:03:38 > 0:03:42'But this unfortunately, is not the case for Josh Guild.'
0:03:42 > 0:03:48The most frustrating thing about it is that I can't really go out
0:03:48 > 0:03:51and play with my mates after school.
0:03:51 > 0:03:55The slightest bit of friction could cause a blister or my skin to
0:03:55 > 0:03:57peel off.
0:03:57 > 0:03:59Josh does have down days.
0:03:59 > 0:04:03And, you know, we do get the, "Why me?"
0:04:03 > 0:04:06Erm, "It's not fair. I'm fed up of this."
0:04:06 > 0:04:10'And I know all too well that a child with EB has to attend
0:04:10 > 0:04:13'lots of hospital appointments, which adds to the stress.'
0:04:13 > 0:04:16'It isn't just the clinics that we have to go to,
0:04:16 > 0:04:18'it's all of the therapy side of things as well.'
0:04:18 > 0:04:21- And how are your hands for that? - They were good.
0:04:21 > 0:04:22- Were they all right?- Yeah.
0:04:22 > 0:04:24So what are these? These are new splints, are they?
0:04:24 > 0:04:27'Getting used to all of those people around you
0:04:27 > 0:04:31'and sometimes you can, you know, get lost sometimes in it.'
0:04:32 > 0:04:36'To make life easier, DEBRA has pioneered a kind of
0:04:36 > 0:04:38'one-stop-shop clinic for people with EB,
0:04:38 > 0:04:40'helping to provide specialist
0:04:40 > 0:04:44'dieticians and nurses who work as part of a multi-disciplinary team.
0:04:44 > 0:04:47'But for families like Josh's, it's not just the clinical
0:04:47 > 0:04:49'support from DEBRA that makes the difference.'
0:04:49 > 0:04:53DEBRA have helped us as a family by providing support.
0:04:53 > 0:04:56The DEBRA holiday that we had was hassle-free,
0:04:56 > 0:04:59it was an adapted caravan so we didn't have to
0:04:59 > 0:05:03worry about wheelchair access, it was just a good family time.
0:05:03 > 0:05:07'If there wasn't a charity like DEBRA, life would be a lot harder.
0:05:07 > 0:05:10'Because it isn't just about, the day-to-day care.'
0:05:10 > 0:05:12It's also about the emotional support,
0:05:12 > 0:05:15not only for us as a family but also for Josh as well.
0:05:17 > 0:05:20Having EB is like the proverbial roller coaster.
0:05:21 > 0:05:26Things can be going well but then you can shoot right back down again.
0:05:26 > 0:05:29A couple of years ago, I got engaged to my boyfriend -
0:05:29 > 0:05:32something I never thought would happen to me.
0:05:32 > 0:05:36But that same year, the one thing that everyone with EB
0:05:36 > 0:05:40lives in fear of happened - I discovered I'd got skin cancer.
0:05:40 > 0:05:42It was a massive, massive bombshell.
0:05:44 > 0:05:46Thankfully, I'm cancer-free now,
0:05:46 > 0:05:50but when you live with a condition like EB, then you know just
0:05:50 > 0:05:54how important it is to make the most of the time that you've got.
0:05:54 > 0:05:56And DEBRA really gets that.
0:05:56 > 0:05:59They gave me the confidence to realise my dreams
0:05:59 > 0:06:02and have helped me to live my life to the full.
0:06:02 > 0:06:04From going to university,
0:06:04 > 0:06:07getting married, to even becoming a storm chaser.
0:06:07 > 0:06:10This might look like madness to you, but for me
0:06:10 > 0:06:12it's called living for today!
0:06:12 > 0:06:13SHE LAUGHS
0:06:13 > 0:06:15But although I make sure my life is pretty full,
0:06:15 > 0:06:19the EB is always there with me.
0:06:19 > 0:06:22People with EB have to put on a brave face because underneath
0:06:22 > 0:06:27it all, it's a life of constant pain and reliance on other people.
0:06:27 > 0:06:30And that can take its toll emotionally.
0:06:30 > 0:06:34The ultimate answer to all this, is finding a cure and that's why
0:06:34 > 0:06:38DEBRA has funded research into EB for the last 30 years.
0:06:38 > 0:06:40Funding from DEBRA has made an enormous difference to what
0:06:40 > 0:06:42we know about EB.
0:06:42 > 0:06:45For example, over the last ten years we've been able to discover
0:06:45 > 0:06:50the causes of EB in terms of genes and mutations and that's been great.
0:06:50 > 0:06:52But what we need to do now is move forward and take
0:06:52 > 0:06:56the advances from the laboratory back to the clinic, and that
0:06:56 > 0:06:59means raising funds for clinical trials - trials of new therapies -
0:06:59 > 0:07:03genes, proteins, cells - things that can modify EB to improve the
0:07:03 > 0:07:08condition and really start to change lives and consign EB to history.
0:07:08 > 0:07:10EB has made me who I am,
0:07:10 > 0:07:15but I would love to never wear these bandages, ever again.
0:07:15 > 0:07:21JOSH: 'I would like to see, maybe, a cure to be found for EB'
0:07:21 > 0:07:26just for some area of my skin to be a bit normal.
0:07:26 > 0:07:28It is such a big thing for people to be able to donate
0:07:28 > 0:07:31and to be aware of this condition so that they can try and help,
0:07:31 > 0:07:34to get the cure that we're asking for.
0:07:34 > 0:07:38EB is a rare condition, but that means that DEBRA is
0:07:38 > 0:07:41absolutely crucial to people who have it,
0:07:41 > 0:07:45because DEBRA is the only charity in the UK dedicated to supporting us.
0:07:45 > 0:07:48Your money can help make lives like Freddie's
0:07:48 > 0:07:50and Josh's more bearable right now
0:07:50 > 0:07:55and could even help to find a cure in the future through research.
0:07:55 > 0:07:57Please, help if you can.
0:07:57 > 0:08:00You can make a difference now, by going to the website
0:08:00 > 0:08:03bbc.co.uk/lifeline
0:08:03 > 0:08:04where you can donate.
0:08:04 > 0:08:09If you haven't got internet access, please call 0800 011 011.
0:08:09 > 0:08:12And if you can't get through the first time, please,
0:08:12 > 0:08:13please, keep trying.
0:08:13 > 0:08:16Telephone calls are free from most landlines.
0:08:16 > 0:08:19Some networks and mobile operators will charge for these calls.
0:08:19 > 0:08:24You can also donate £10 by texting GIVE to 70121.
0:08:24 > 0:08:28Texts cost £10 plus your standard network message charge
0:08:28 > 0:08:30and the whole £10 goes to DEBRA.
0:08:30 > 0:08:32Full terms and conditions can be found at
0:08:32 > 0:08:35bbc.co.uk/lifeline
0:08:35 > 0:08:38Or if you'd like to post a donation, please, make your cheque
0:08:38 > 0:08:44payable to DEBRA and send it to Freepost, BBC Lifeline Appeal,
0:08:44 > 0:08:46writing DEBRA on the back of the envelope.
0:08:46 > 0:08:49And if you want the charity to claim Gift Aid on your donation,
0:08:49 > 0:08:51please include an e-mail or postal address
0:08:51 > 0:08:53so that they can send you a Gift Aid form.
0:08:53 > 0:08:55Thank you.