Sam McCausland with brother Callum (5), parents Tracy and William McCausland and grandparents Sam and Patricia Letters. US1608-111AO

AN 18 year old Muscular Dystrophy sufferer has described in what little Sam McCausland may face in the future if no further progress is made in the battle against the disease.

Jason Walker, who suffers from the Duchene variety, has written a book entitled 'Missing my Body.

In his book Jason says he is frequently asked what it's like to have Duchene Muscular Dystrophy.

"In an effort to answer that question completely and honestly, I will tell you what it means to be me," he continues.

"Every moment of the day is a challenge. Every night, I go to sleep and hope that I will see the next morning. My thoughts are constantly focused on keeping aware that my circuit is hooked to my trachea and it is hooked up properly to the respirator.

"My eyes are constantly monitoring my machines to determine if there are any loose wires. I worry if the circuit will come off because after all; this ventilator is what's keeping me alive. Watching people around me, I hope and pray that no one will accidentally bump into my portable ventilator machine when I am out with family or friends.

"I would have to say on a daily basis, the one and most important thing that is a worry is my ventilator machine and my breathing. Without the machine I cannot breathe."

Sam's mother Tracy explained Muscular Dystrophy degrades muscle fibres to the stage where they are replaced by fibrous tissue.

"When a muscle reaches this state there is no way of ever replacing it," she continued.

"We must hope that Sam and other boys of his age who have been diagnosed will have a better future. This will only happen if we find an effective treatment before it is too late - before their muscles have wasted beyond repair."

Parents launch campaign to defeat fatal muscle disorder

by NEIL GREENLEES

A HILLSBOROUGH couple whose toddler son has been diagnosed with an incurable muscle wasting disease hope a sponsored parachute jump due to take place at the start of the summer will boost their newly launched campaign to fund essential research into the condition.

Ironically, the first signs little Sam McCausland was suffering from the terminal disorder Muscular Dystrophy were picked up by doctors monitoring his health after he successfully battled Meningitis at the neonatal unit of Belfast's Royal Victoria Hospital during the first few weeks of his life.

William and Tracy McCausland will be among those taking part in the parachute jump on June 14 which has been organised by Lisburn woman Gayle Currie. The couple have launched their campaign called 'Please Fix Sam' while still waiting to find out exactly what form of the condition their little boy is suffering from.

However, they know without vital funding it will be impossible to build on real progress which has been made in the battle against the disease during the last few years.

They hope their campaign will raise �500,000 as well as increase public and political awareness of a condition which currently claims the lives of many young men by the end of their teens or early 20's.

William and Tracy are only too aware of what the future holds for Sam if sufficient funding is not raised to find a way of alleviating the condition.

They explained boys suffering from 'Duchene, the most common form of Muscular Dystrophy, typically lose the power in their legs first and end up in wheelchairs before their 10th birthdays.

The couple said the 'chronic lack of funding' for vital research into Muscular Dystrophy must change. If not, they added, boys like their little son affected by the disease will 'run out of time.

The parachute jump will take place at Garvagh and will involve tandem lumps from 13,000 feet while anyone brave enough can go solo from 3000 feet. Those taking part must be aged 16 to 80 and a stamped doctor's note is required for anyone above the age of 40.

The event has a minimum sponsorship requirement of �350.

Further information can be obtained by e-mailing info@pleasefixsam.com

A mother's despair

'It is our job to make every day as precious and as happy as possible, and not to let this spoil the wonder of seeing Sam grow, learn and develop into the clever, funny, mischievous little boy he is becoming'

TRACY McCausland can remember 'dropping on to the floor and howling like an animal' when her toddler son Sam was confirmed to be suffering from Muscular Dystrophy.

The news doctors felt they had to carry out tests on the little boy to 'rule a few things out' had already brought a terrible sense of deja vu to her and Sam's father William.

Not only had they gone through the trauma of watching him battle Meningitis while just days old - they had also seen similar tests carried out on their older son Callum.

Ultimately these had ruled out Muscular Dystrophy and Callum was finally diagnosed as suffering from a severe form of Dyspraxia.

Callum now faces a variety of challenges - gross and fine motor problems, immature play skills and an inability to communicate through speech.

Tracy admitted by the time Sam, who was monitored closely by doctors following his fight against Meningitis, reached his 13 month check-up she had convinced herself he was suffering from a milder form of Callum's condition.

However, during the consultation both she and her husband realised Sam's baby doctor "looked worried". "Sam was still not putting weight on his feet, still not crawling, and had hardly any strength in his arms," she continued.

"The doctor told us that he did not think that Sam was suffering from Dyspraxia, as his other developmental areas were leaps and bounds ahead. "He said 'we'll do some tests to rule a few things out'. Three hours later I got a call to say Sam's CK level was raised. "I felt sicker than the day they told us he had Meningitis. Sicker than anything I could imagine. It was like time stood still. I knew what this meant as I remembered waiting for the results of Callum's CK test when they told us Muscular Dystrophy was a possibility," she continued.

"I can't remember much about that afternoon apart from feeling the most agonising pain and total despair. We were given an appointment to see the Genetics Professor at Belfast City Hospital, and she explained the grim possibilities in relation to Sam's potential diagnosis. She was certain that it was a Muscular Dystrophy, but not sure which one."

The phone call the couple dreaded came on a Friday afternoon.

Sam's muscle sample contained a little dystrophin - the protein which keeps muscles healthy - but it was patchy. The sample had to be sent to Newcastle.

Tracy began to spend 'all her waking hours' on the internet talking online to other mums and finding out all she could about Muscular Dystrophy.

A week after Sam's diagnosis was confirmed she and William met with a neurologist.

"He received an hour long grilling from us on every possible scenario - genetics, DNA, prognosis, research etc," she continued.

"We were told it would take up to two months to obtain the results of the further analysis of the muscle sample. This will tell us more in terms of a diagnosis and prognosis."

Tracy said In the past weeks she has gone through "every emotion known to man".

"I have found solace in friends, comfort in the optimism of other proactive parents and a relentless appetite for knowledge as I research every aspect of this cruel disease," she continued.

"I have moments of utter despair, but when I do I look at my boys and realise that it is our job to make every day as precious and as happy as possible, and not to let this spoil the wonder of seeing Sam grow, learn and develop into the clever, funny, mischievous little boy he is becoming." Sam is currently learning to walk, and took his first few steps on February 19 aged almost 18 months.

"Watching this is a joy, but it is also tinged with longing and a little sorrow, as I want to know that he will always be able to do this, but fear that one day it will be taken away from him," said Tracy.

"Sam is such a cute little boy. His personality is really starting to take shape. He has a glint in his eye and a devil on his shoulder!! He loves to imitate everything he sees and hears, and is a real fan of his big brother.

"His favourite toys are cars and trucks, and he is mad about Thomas the Tank Engine and Bob the Builder. He's also the littlest Giant (Belfast Giants Ice Hockey).

"I look at him and my heart melts. He has been through so much already in his little life. He is a fighter - he has proved that already, and with our help, love and support he will have the best life."

Ulster Star
18/04/2008