I've had years of happiness taken away from me.
ISA Burke had been a mother just a few days when her midwife asked if she wanted a routine test for her new baby boy.
Overjoyed with her little bundle and not imagining any problems Lisa, 37, agreed to the test for Duchenne muscular dystrophy.
At the time, last February, Lisa and husband John, from Grangetown, Cardiff, knew nothing about the condition which causes muscle degeneration and early death.
Duchenne affects one in every 3,500 boys born each year in the UK. It's carried by women but rarely affects girls, and few with it live past their 20s.
There is no treatment or cure and symptoms don't usually show until a child is between two and six years old.
As nothing can be done to stop the disease, knowing at an early stage isn't always best, Lisa believes.
She says she didn't realise what she faced when she agreed to the simple 'heel prick' test.
"I thought 'it won't happen to me' but it has," she says, fighting tears.
"You have no way of knowing if your child will be affected.
"It's a genetic disease but anyone can be affected. I've since discovered I'm not a carrier and it's not in our families. It can just happen.
"But the test can devastate years of your life.
"I feel as if two or more years of my life, when I could have been happy, have been taken away.
"The heel prick test for Duchenne is only done in Wales. If I'd had Seth in England, I'd still be blissfully unaware.
"We should have been given more information about whether to have it."
Lisa had Seth at the Royal Glamorgan Hospital where John, also 37, is a senior intensive care nurse.
The couple don't blame medics or the midwife, rather the testing programme which they believe isn't backed up with the support and expertise needed.
Wales is the only place in the UK offering routine Duchenne testing for all newborn boys.
Lisa says the Welsh Assembly should fund specialists and support workers as part of the programme.
Seth's test came back positive when he was aged seven weeks, and Lisa's life turned upside down.
"My health visitor phoned and said she had to see me straight away. I knew it was something bad immediately," she recalls.
"We were sent to doctors at St David's Hospital. We saw a geneticist and a paediatrician but they weren't experts in Duchenne, We were shown two websites to look at.
"I'm screaming for some help. "If you met Seth, you would never know anything's wrong.
"He's very active and alert, loves his toys, his food, Iggle Piggle and cuddles.
"But as he gets older, every time one of his muscle cells dies from playing, or walking too far, it won't regenerate.
"Duchenne will rob my little boy of his ability to walk by 10 and by his teens he will barely be able to breathe for himself."
Wales' Chief Medical Officer for Wales, Dr Tony Jewell, said: "Early diagnosis allows for preparation, advice and support to be given to families."
Neuromuscular services for children are being considered as part of the Neuroscience Standards Documents due to be published this summer, he added.
And the Welsh Neuroscience Review Group will also look at what services are needed.
In the meantime Lisa and John are raising awareness and funds for new research which may provide the first ever Duchenne treatment.
Scientists are close to finding therapies that could slow down the condition.
"This could give Seth a fairly normal lifespan and, whilst not a cure, would mean that his illness could be managed," Lisa explains.
The family will join a lobby of the Welsh Assembly Government on June 10 when campaigners will highlight lack of funds for neuromuscular conditions.
Ian Griffiths, 24, from Abercynon, was diagnosed with Duchenne muscular dystrophy aged 18 months. He is currently writing his autobiography. Here he tells his story.
"DMD is a devastating disease that robs you of everything.
I have 24-hour care from my parents, my mother Sue and father Tony, who is a professor of mechanical engineering at Cardiff University.
My parents were and are great. They always answered my questions to the best of their ability.
Up until I was eight, I found out I had muscle weakness and later DMD.
Obviously I wasn't told about the life expectancy at eight. It wasn't until 12 that I knew more.
As a child I didn't think I'd get worse. It was very hard to understand.
I could walk with help until I was eight. My lowest point was when I was walking around an armchair when I suddenly fell hard.
Whatever my mother and I tried I couldn't stand. This was really distressing. It wasn't long until I got my first wheelchair.
My family, sisters Emma, now 31 and Sian, 26, were very good, but the medical world never offered me any counselling or support for suddenly losing the ability to walk.
I chose to be positive because it's better to focus on what you can do.
My friends at the time were great with seeing me in my wheelchair; they all wanted a ride in it.
I went to Abertaf Primary where I had a one-to-one carer. I was due to go to Mountain Ash Comprehensive but they said I couldn't go as there was no wheelchair access. I eventually went to St Cenydd Comprehensive in Caerphilly.
I had to leave all my friends behind and had trouble making new ones. I had no non-disabled best friends and no-one visited me.
Until I was15 I managed pretty well. I went horse riding until I was 12 and lost my ability to balance and I went swimming up to 16. I was gradually becoming paralysed.
I am now paralysed save three fingers and a thumb which I can barely move.
All my food has to be blended and I need ventilation 15 to 16 hours a day as my breathing muscles are impaired. My lungs have to be cleared of fluid six or more times a day. This is tiring and can be extremely frightening.
The internet has been a great way to talk to people. The worst thing for me is the lack of friends who come to visit. I get depressed a lot because I feel so alone.
I've been a digital artist since 2005. I make awareness posters for Action Duchenne and designed Christmas cards for a company who donated money to ActionDuchenne.
In 2001 I developed pneumonia and had three stays in intensive care in Llandough Hospital.
I went to Florida when I was nine but I've not been on holiday since I was 16 as the amount of equipment I need makes it difficult.
I need my ventilator, suction machine, electric wheelchair, air mattress, adjustable bed and my hoist. I also need to be near Llandough Hospital in case I develop a cold or infection. Without prompt antibiotic care I could deteriorate quickly.
In my opinion, current medical care for Duchenne is dire. DMD patients could be in danger without even knowing.
To people starting their Duchenne journey I would say, try to be as positive as you can. Get advice and make a noise.
I hope a cure will be found and hope for a day when Wales has a leading multi-disciplined group of Duchenne specialists led by a neuromuscular consultant.
I hope to be here then, but realistically I may not last more than four years."
WHAT'S BEING DONE?
New research backed by Action Duchenne, a charity set up by parents, may offer hope to babies like Seth.
Researchers on the MDEX project are developing treatment that mimics the muscle-mending protein missing in Duchenne patients.
Nick Catlin from Action Duchenne said: "These early results show exon skipping therapy can be a potential treatment for Duchenne Muscular Dystrophy.
"It is promising news that will be welcomed by all sufferers and their families."
Around 1,300 people in Wales have Duchenne. Anyone wanting help or information can contact Action Duchenne's advocate in Wales Pauline Brace on: 01981 550 878 or 07920 450231.
Ian Griffiths, left, from Abercynon is pictured above as a young child with his father Lisa Burke from Cardiff with her six-month-old son Seth PICTURE: Andrew James [umlaut]
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|Publication:||South Wales Echo (Cardiff, Wales)|
|Date:||Jun 1, 2009|
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