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Our Stories

SAM

 

SamSam was born in August 2006. Four days after birth Sam it became apparent that he had contracted Meningitis. He spent two weeks in Intensive Care. He recovered completely but was monitored at Baby Clinic until the age of one.

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, couldn't lift his head off my shoulder when I was winding him, was reluctant to lift his head when placed on his tummy and his head seemed permanently stuck on one side. Sam gained good sitting balance at 7.5 months. He began to scoot around on his bottom at 9.5 months. He was still not rolling over, and when I lifted him it felt as though he was sliding through my hands - he seemed to be so weak around his shoulders - he felt like jelly. When he was lying down his legs would also go into a shape where he looked like a little frog. Yet all of Sam's other milestones were being achieved ahead of schedule. His speech, cognitive skills and fine motor skills were superb.

By 11 months our concerns were growing as Sam would literally crumple when you put him into a standing position. By this time his peers were standing, cruising and some even walking. At his 13 month review the Doctor at Baby Clinic also voiced concern as Sam was still not putting weight on his feet, still not crawling, and had hardly any strength in his arms. We agreed to having Sam's blood CK levels checked, and 2 hours later we found out that his count was almost 4,000 (normal being in the range of 0-180). This left all of us fairly certain that Sam had a form of Muscular Dystrophy. We were seen the following week for an emergency appointment at Belfast City Hospital and we were advised that they would be checking Sam's DNA sample to ascertain if he had a deficiency in his dystrophin production (which would have led to a diagnosis of Duchenne Muscular Dystrophy). At the end of October we were told that his DNA did not show deletions or duplications on the dystrophin gene.

Two agonising months went by before we saw a Consultant Neurologist at the Royal Belfast Hospital for Sick Children. The CK test was repeated and it came back still extremely elevated. A Muscle Biopsy was scheduled for January 2008. Following this we were told that Sam's muscle sample showed a problem with the production of a certain protein which is needed to keep muscles healthy. I remember dropping onto the floor and howling like an animal.

Sam's muscle sample was sent to the neuro-muscular specialist team at Newcastle for more detailed study on the muscle's structure and proteins. Unfortunately it was damaged in transit and was not viable when it arrived in Newcastle. A small piece of muscle had been left from the initial biopsy - it was subsequently found to be viable and was sent for testing in May 2008. This process took a further 6 weeks and in June we received a copy of the pathology report. This documented the laboratory findings which show 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 Sam is suffering from a rare form of Congenital Muscular Dystrophy. As this is a rare disease it is difficult for the doctors to confidently predict course, severity and timescales. It took almost a year to have the diagnosis genetically confirmed - Sam has inherited a 'bad copy' of the merosin gene from both Dad and Mum. These tiny errors in the DNA (genetic code) cause him to have this cruel disease. How devastating as a parent to know that you are responsible for this.

 

SAMSince that terrible day 2 years ago I have gone through every emotion known to man. I have faced days of profound darkness, but found solace in friends, comfort in the optimism of other proactive parents and have developed 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 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 rascal that he is becoming

 

It is so painful to think that unless we find a treatment or cure for this disease that one day this bright funny little boy will be trapped in a useless body. It is simply too cruel for words.


COURTNEY

CourtneyCourtney lives in Newtownards with her mummy Tracy. Courtney was born in September 2006. She spent 2 weeks in the neonatal unit because she was really 'floppy'.  There was no apparent explanation for her hypotonia. She was then transferred to Craigavon where things started to pick up. Her feeding tube was eventually removed and she was allowed to come home.

The following January at the age of 4 months Courtney started a series of visits to a variety of specialists. She attended physiotherapy every few weeks as she was still very low-toned and was unable to lift her head. Dr. Hicks, pediatric neuro-muscular consultant at the Royal Belfast Hospital for Sick Children saw Courtney in order to help determine what the reason behind her hypotonia and other problems could be. After a series of  blood tests and a muscle biopsy, Courtney was diagnosed with Congenital Muscular Dystrophy. An MRI revealed abnormal white matter, an indicator of merosin- deficient CMD. Courtney's family are still awaiting the results of DNA testing to confirm this diagnosis.

Courtney

Courtney cannot walk and is unable to sit up unsupported. She has only recently been able to hold her head up for longer periods of time. She has a standing frame to encourage her to put weight through her legs. Courtney receives physiotherapy every two weeks and is seen by an O.T. a Speech & Language therapist and also a dietician. 

Even though she has a lot to put up with she is a great girl and is full of smiles.


LIAM

LiamLiam was born in June 2006 and almost from birth his parents realised there was something not quite right, as he was very floppy, and did not move his arms and legs much.  They raised concerns with their local GP, who dismissed their fears on many occasions, until eventually Liam was referred to a paediatrician.  Blood tests were taken, and they showed that his CK-count was elevated. The paediatrician involved did not commit to giving a diagnosis, however mentioned Duchenne Muscular Dystrophy and Spinal Muscular Atrophy as possibilities. The family was then referred to a neurologist who straight away suspected that Liam had CMD. In some ways it was a relief to get a diagnosis after months of worry and speculation.
 
Liam had a muscle biopsy when he was just 9 months old, and the results confirmed that he had CMD - his family received the official diagnosis just  one day before his first birthday. The sample showed that he had normal merosin, but there weren't enough muscle cells to do further testing so another biopsy was carried out at 17 months. Despite all of the extensive testing Liam's form of CMD has not been found to match any of the known subtypes and at this point a genetic diagnosis which would identify the precise DNA source of his CMD is not possible.
 
Liam is a happy go lucky little boy, who makes the most of the muscles and strength he has, and doesn't yet seem to be too frustrated by his limitations. He sat independently at 12 months and started to move around by pushing himself backwards on his bum a couple of months later. He has now mastered pushing himself forwards as well and has developed his own form of crawling. He is lucky to have an understanding big brother (Sebastian, 5) who is happy to adapt play to suit Liam's abilities. Liam will start a mainstream nursery in the summer and then a mainstream school when he turns 6.
 
Liam has been using a small wheelchair since he was 15 months and now also has an electric wheelchair. It took him a little while to get the hang of his power chair, but now he is in total control, and that has given him a lot of independence. Liam has physiotherapy once a week and we have exercises that we carry out at home.  He also has a stander that he uses once a day between 30 minutes to 1 hour to stretch and strengthen his muscles and bones and help prevent contractures and scoliosis.


SOPHIE

Sophie

Sophie was a quiet baby with very little crying and seemed very floppy. She took her time over her feeds as she tired of sucking quickly.  She was originally diagnosed with Cerebral Palsy, but her parents pushed for further testing as they did not feel that this was the correct diagnosis for their little girl. All it took was a simple blood test to confirm their worst fears - Sophie had Muscular Dystrophy. During the months of waiting for the results of Sophie's muscle biopsy  she had to be rushed  to the hospital with pneumonia. She had caught a simple cold, but was too weak to fight it and she didn't have the coughing strength to clear her lungs. Oral antibiotics didn't work and she needed an intravenous to help her. This was a very hard time and at one point her parents feared the worst. After five days of uncertainty her condition improved. Two days later she was discharged, but it was some time before she was back to her bubbly self.


Sophie was 2 years old when her parents got the results of her muscle biopsy. They were given the diagnosis of Congenital Muscular Dystrophy, Merosin Negative, and were told she would never walk. Sophie had physiotherapy weekly and after a lot of hard work and tears, a miracle happened. Sophie began to walk! Her family was overjoyed, yet this was by no means an end to what Sophie had to go through. She had a lot of equipment - standing frames, walkers, leg splints, safety hats and seating systems that seemed so intrusive but equally needed.

SophieSophie is now 7 years old. She is still walking with the aid of her splints but has many falls which have led to broken bones. She mostly uses her powerchair. She cannot climb stairs or run, and cannot get up off the floor when she falls. Sophie is struggling a lot physically and has now developed scoliosis, which will require major surgery in the future. She is starting to ask a lot of questions, but despite all she goes through, Sophie is a bubbly little girl with an infectious energy. She is very warm and giving.


She loves Disney princesses, mermaids and fairies. She is a typical 7 year old girl whose body cannot keep up with her.

 

You can read more stories by clicking on this link:  http://curecmd.org/our-stories

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CMD Registry: www.cmdir.org