Cycle 4 Sam

Sam's Story

Samuel George Roberts was born on the 30th June 2000 at the Burnside War Memorial Hospital in Adelaide, South Australia. Sam’s parents are Martin and Michelle, and he has a big sister Lucy, who is now 20, and a little brother Charlie, who is now 16. Sam was the cutest little boy you have ever seen with his beach blonde hair and perennial happy face!

Sam was slow to develop his motor skills and when he still wasn’t crawling at age 15 months we had him assessed at the Adelaide Women’s and Children’s Hospital.

In July 2002, after numerous tests and two major operations Sam was eventually diagnosed with Niemann-Pick Disease Type C.

View a short clip on Sam's story here

Read his story below.

  • 1 | Pre-Diagnosis
  • 2 | Operations
  • 3 | After Operations
  • 4 | Sam's Diagnosis
  • 5 | Post Diagnosis
  • 6 | A Special Time


Sam was a delightful baby. He always had a gentle, happy nature and rarely cried. He was a very social and endearing child. He had a fascination with fans and lights and would point to the lights in our ceiling and say "whats dat!” 

Sam's favourite part of the week was when Michelle would take him swimming. Sam was a real water baby!

As he neared his first birthday Michelle and I began to become aware that Sam was having some physical difficulties. He hated "tummy" time and showed no desire to pull himself up into a sitting position or crawl. He could however, remain in a sitting position when placed in one and loved to play with his toys whilst sitting. He was also having some feeding difficulties, not managing “lumpy” food very well.

We were not deterred however because many people would tell us that "their child didn’t crawl till they were 18 months old" or "boys are much slower to develop than girls.”

At 15 months Sam still showed no interest in crawling or spending time on his tummy so we decided to take Sam back to his paediatrician. As well as his physical difficulties, his paediatrician also noted that Sam was showing signs of "failure to thrive". In fact he was in the bottom percentile for his age in both height and weight.

We were referred onto the Women’s and Children’s Hospital Assessment Unit where Sam was assessed by a team of physiotherapists, occupational therapists, and speech pathologists. Over the next six months Sam also underwent numerous medical tests. It was a harrowing time for us all as Sam was tested for numerous diseases such as Muscular Dystrophy and Cystic Fybrosis.

The testing hit us hard. Our lives were filled with anxiety as we waited for each result. With each negative result we regained our hope that nothing was wrong with Sam.

In December of that year Sam was given a diagnosis of "Hypotonia" or weak muscles. Hypotonia is really a general term when specialists cannot find a specific diagnosis. With that news we didn’t feel too bad. There was still hope. Over the next 4 months I was determined to finding out as much as I could about Hypotonia and spent hours researching the internet.

Sam, meanwhile, was introduced to a world of visiting physiotherapists and occupational therapists who would visit our home weekly to improve his motor skills. We too provided Sam with daily developmental physiotherapy. His physio at home would involve numerous exercises geared to strengthen Sam’s muscles and general coordination. Each physio session would last for about 40 minutes.

Sam enjoyed his physiotherapy initially but would always be exhausted by the end of a session. We tried to make the sessions as much fun as possible for Sam, and also include Lucy in all the fun. The physiotherapy sessions were quite exhausting for Michelle too because she was heavily pregnant with Charlie at the time!

Sam’s motivation improved with toys which had flashing lights or made noises! Sam’s general coordination and strength improved significantly in the first few months of physio. He began to roll and sit up by himself, and even began to stand supported at a little table. At one stage he was able to turn around in a circle whilst sitting. As the year progressed, however, he would tire quickly and his motivation decreased. We came to appreciate that Sam had major physical problems and we were unsure how to help him.

On March 8th, 2002 Sam and Lucy’s little brother Charlie was born.

From April 2002 Sam started to show other signs of deteriorating health.

At Easter, on holiday at Victor Harbor, I remember Sam kept his Auntie CJ awake all night by blowing kisses on his hand, followed by fits of coughing. Sam seemed to be awake all night! At about the same time Sam regularly vomited most food he had eaten. He often sounded “gurgly” after a meal , and he was a very fussy eater. By this stage about all he could eat was “Milo” custard!

Most interestingly, however, Sam suddenly developed the most unusual ability to fall asleep when he laughed. He would literally close his eyes and fall to the ground when he laughed. The specific term for this is cataplexy.

Not long after, we reported these things to Dr Phil Egan, Sam’s pediatrician. Phil ordered an immediate chest x ray. News was not good. Phil contacted us to meet with a respiratory health physician at the Women’s and Children’s Hospital, Dr James Martin.

At this meeting Dr Martin explained that Sam had developed chronic lung disease, probably caused by inhaling food into his lungs. Sam was showing signs of a deteriorating swallowing action, which was impacting not only on his physical growth but also on his lungs.

Dr Martin sent Sam to the sleep study unit of the Hospital. Sam and I shared our first night in hospital together in May 2002. Sam had wires connected to all parts of his body and was viewed all night by camera to observe all movements.

Sam hated having all the wires connected to him and spent the early part of the evening pulling them out! When he finally settled the sleep technician observed that he had very little quality sleep and spent most of his time blowing kisses to the camera! His restless sleep was later attributed to reflux, and poor oxygen supply. Sam was immediately put on oxygen for sleep times.

Sam was also sent for more x rays which would examine his swallowing process. This revealed he was refluxing what he was swallowing, and this too was getting into his lungs.

Dr Paul Hammond, a gastroentorologist, and surgeon Professor Hoc Tan, met with us following the scans and x rays and told us that the best course of action would be for Sam to have an operation called a Nissens fundoplication, followed by a procedure where a gastrostomy button is inserted into his stomach. They would also take a skin, lung, and muscle biopsy to assist the doctors in reaching a diagnosis for Sam—he had almost every doctor in the Women’s and Children’s Hospital baffled by this stage!

They explained that Sam's lung disease was critical, and oral feeding and reflux was the cause of the lung disease. The fundoplication, or tying of the stomach, would prevent reflux, and the gastrostomy button would prevent food entering his lungs.

Michelle and I were horrified! We were told that Sam probably wouldn't take any food or drink orally again. Each feed and drink would have to be taken via a feeding tube into his stomach. It was a bitter resolution, but one we knew was crucial to assist Sam's failing lungs.

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