Sam’s Story

sam1resized3Sam was born on 24th August 2006, a perfect chubby little baby boy. All who set eyes on him fell in love, and none more deeply than his Mum, Dad and big brother Callum (who was just about to turn 4). Sam was named after his Grandpa, who is without doubt his biggest fan and best friend. (Nana is pretty popular too!) Four days after his birth Sam started to run a temperature, and it swiftly became apparent that he had contracted Meningitis. He spent two weeks fighting for his little life in the NeoNatal Intensive Care unit of Belfast Royal Maternity Hospital.

We were told to face the possibility that we might lose him, or that he would be left with brain damage or hearing loss. He fought so hard and won his fight. Unscathed after his ordeal, he came home on his brother Callum’s 4th Birthday. What a celebration! Because he had been so ill Sam’s development was to be monitored for the first year through the Baby Clinic.

At his reviews everything seemed to be right on schedule, with the exception of his achievement of his early gross motor milestones. He was slow to get good head control, reluctant to lift his head when placed on his front, yelled for Ireland when we tried to give him ‘Tummy Time’. We were told not to worry – “We’ll keep an eye on him”. Sam gained good sitting balance at 7.5 months and we heaved a sigh of relief – this was pretty much on track. So, we relaxed a little over the next few months.

At his 11 month review, the Doctor mentioned that he was concerned that Sam could not crawl. He had only recently started to roll, and we thought that his reluctance to push up on his arms was nothing too serious. He had started to bottom shuffle at around 10 months, and was using this as a pretty efficient method of travel! When the Doctor tried to get Sam to put weight on his legs, he felt like jelly. I felt that sick feeling welling up inside me again. “He should be able to stand by now, and be pulling himself up on the furniture”. Sick. “And he feels like he is going to fall through your arms when you lift him up – he is not solid the way a child should be at this age”. Sick. So, we took Sam to a private Physiotherapist who recommended some exercises, and got a review appointment for 11th October, by which time Sam would be 13 months. We tried desperately to do as much physio as Sam would tolerate – in a vain attempt to build strength before our next visit to the Clinic. All of Sam’s other milestones were being achieved ahead of schedule. By 13 months he had nearly 15 words, and his fine motor skills were superb.

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Our older boy, Callum, is one of the sweetest little boys you could ever meet. He has, however, got his own share of problems, which have been evident from birth. He was a floppy baby, slow to feed, had no eyesight for the first six months of his life (we were told that he was completely blind just days before his first Christmas). His eyesight is still monitored but is thought to be within normal parameters. Callum did not sit unaided until he was almost one, never crawled, and didn’t walk until he was almost 21 months. He never babbled, was not sociable, and did not show much interest in play.

By the time Callum turned 5, having had 2 MRI brain scans, EEGs, blood tests too numerous to mention, a muscle biopsy and a list of consultants as long as your arm, many dreadful possibilities had been ruled out, including, ironically, Muscular Dystrophy, for which he was tested when I found out that I was pregnant with Sam. Callum still has gross and fine motor problems, immature play skills and, most significantly, is unable to communicate through speech. He has a diagnosis of severe Dyspraxia. Despite all this, he is my light.

So…. I had convinced myself by Sam’s 13 month check-up that he too had a milder form of Dyspraxia. At the consultation our Baby Doctor looked worried. Sam was still not putting weight on his feet, still not crawling, and had hardly any strength in his arms. He told us that he did not think that Sam was suffering from Dyspraxia, as his other developmental areas were leaps and bounds ahead. “We’ll do some tests to rule a few things out”. Three hours later I got the call. “Sam’s CK count is elevated”. I felt sicker than I ever had in my life. Sicker than the day they told us that 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 that MD was a possibility. I can’t remember much about that afternoon apart from feeling the most agonizing 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 type.

Two agonizing months went by before we saw the Consultant Neurologist at the Royal Belfast Hospital for Sick Children. He repeated the CK test and it came back still extremely elevated. It was not a mistake. A Muscle Biopsy was scheduled for January 13th, 2008. In the intervening period, Sam started to cruise around the furniture and began to pull himself up from sit to stand (albeit very awkwardly). The biopsy itself was not too traumatic – Sam got over it surprisingly quickly, and was putting weight back on his feet by teatime. I have no real memory of the following days – they are cloudy as if in a bad dream. We got the phone call on a Friday afternoon. I remember dropping onto the floor and howling like an animal. We were told that Sam’s muscle sample showed a problem with some of the muscle proteins.

I still couldn’t quite believe that this was happening – the pain and hurt in my heart was like nothing I had ever felt. I just wanted to scream “this cannot be happening to my child”. The consultant informed us that the intention was to send the sample of muscle obtained from the biopsy to a specialist team in Newcastle where it would be further analyzed. Unfortunately, however, when the sample was received in Newcastle it transpired that it had not been stored correctly and the sample had been destroyed. I have to say that at that point the fear was temporarily taken over by anger. A further piece of Sam’s muscle was subsequently found at the bottom of the freezer (no kidding!) in May and, following DNA testing to determine that this piece of muscle had indeed been left over from the original biopsy, it was sent to Newcastle for detailed studies of the muscle’s structure and proteins.

This process took 6 more weeks and in June we received a copy of the pathology report. This documented the laboratory findings which suggested that Sam has a deficiency of the protein ‘merosin’ which is responsible for connecting the muscle cell wall to the surrounding tissue. This means that it is likely that Sam is suffering from a form of Congenital Muscular Dystrophy. Unlike DMD and some other more frequently occurring dystrophies, it is difficult for the doctors to confidently predict the course, severity and timescales for this form of the disease. 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 in an effort to give us a more precise prognosis. This genetic analysis could take up to a year and may not even uncover the DNA problem as the fault may lie in a gene which has not yet been identified.

In the past months I have 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. I have moments of utter despair, but when I do I look at my boys, and I realize 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 rascal that he is becoming!! He has a very determined nature and hopefully this tenacity will help him in his fight against this disease.

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  • Congenital Muscular Dystrophy

    A group of diseases causing muscle weakness at birth. Several defined genetic mutations cause muscles to break down faster than they can repair or grow. A child with CMD may have various neurological or physical impairments. Some children never gain the ability to walk, while others lose the ability as they grow older. Learn more...

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