WITH OUR LOVE AND SUPPORT HE WILL HAVE THE BEST LIFE
AT just 21 months-old, little Sam McCausland has successfully battled meningitis, only to be diagnosed with muscular dystrophy. Sam took his first independent steps on February 19 this year, aged almost 18 months.
Said his mum Tracy, "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."
Named for "his biggest fan and best friend", his grandfather that is, Sam, Tracy tells us, is a cute little boy, with "a glint in his eye and a devil on his shoulder", an enthusiastic mimic and a fan of toy cars and trucks, Postman Pat, Thomas the Tank Engine, the Belfast Giants ice hockey team and above all his big brother Callum.
Baby Sam was just four days-old when he showed the first signs of what turned out to be meningitis, but he won his two-week fight for life and arrived home in time for his brother Callum's fourth birthday.Monitored because of this early illness, Sam appeared to develop as expected, save for a slowness in achieving good head control, but at 11 months his doctor voiced concern that he wouldn't crawl.
"When the Doctor tried to get Sam to put weight on his legs, he felt like jelly," said Tracy. "I felt that sick feeling welling up inside me again."
Sam's parents took him to a physiotherapist and got a 13-months review appointment, by which time Tracy had convinced herself Sam was suffering from a milder form of the severe dyspraxia with which his brother Callum had been diagnosed after undergoing a battery of tests that, by age five, had ruled out, among many other things, muscular dystrophy.
Completely blind for the first six months of his life, Callum never crawled and didn't walk until he was almost 21 months-old. Today, he still has gross and fine motor problems, immature play skills and is unable to communicate through speech.
"Despite all this he is my light," said Tracy, who was soon to learn that in Sam's case dyspraxia was not suspected; his 'CK count' was elevated.
"I felt sicker than I ever had in my life," said Tracy . . . "I knew what this meant as I remembered waiting for the results of Callum's CK test when they told us that muscular dystrophy was a possibility."
howling
Doctors, convinced Sam was suffering from muscular dystrophy, but unsure of which type, announced after more tests and a muscle biopsy that he was most likely borderline D/BMD (Duchenne/Becker Muscular Dystrophy), at which point Tracy remembers "dropping onto the floor and howling like an animal".
Sam's sample was sent to Newcastle for further tests but was destroyed in transit.
"We are now facing a lengthy wait for results of DNA analysis to determine the precise genetic mutation which is responsible for Sam's condition," said Tracy. "This could take up to a year.
"There are literally hundreds of mutations which can lead to muscular dystrophy . . The fact that there are so many different genetic mutations of muscular dystrophy makes it a very daunting task for scientists to find treatments."
Sam's family have been on an emotional rollercoaster.
"I have moments of utter despair," said Tracy, "but when I do I look at my boys and I 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, mischevious little rascal that he is becoming.
"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."
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Weather for Dromore
Saturday 04 February 2012
Today
Heavy rain
Temperature: 0 C to 8 C
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