Sam’s Story Part 1
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 8, and a little brother Charlie, who is now 3.
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 Diseae Type C.
Sam's Pre Diagnosis History
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!
The photo on the right is of Sam and Michelle at swimming when Sam was 9 months old.
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 pediatrician. As well as his physical difficulties, his pediatrician 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 under went 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.
The photo to the right is of Sam on his bike at age 15 months.
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.
The photo to the right was taken in January 2002 on family holiday at Victor Harbor. Sam is 19 months old and is in the pram with big sister Lucy.
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 physicaian 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.
The photo to the right is of Sam with his new baby brother Charlie and big sister Lucy at Easter at Victor Harbor.
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.
The photo to the right was taken with Sam on his new bike, 2 weeks before he entered hospital for his operations. He is 22 months old.
So, on May 16th 2002, Sam entered hospital for a major operation on his stomach and to have a gastrostomy button inserted. His surgery was nearly cancelled due to the anesthetist concerned that Sam's lungs could not cope with the trauma of the surgery and the anesthetics.
Dr Phil Egan was able to convince the anesthetist, arguing it was now or never-it was Sam's only chance. Four hours later Professor Tan rang us to say the operation was a complete success, Sam lost only 1 drop of blood, he was now in intensive care, and we could visit him!
This was one of the toughest days Michelle and I would ever experience. Taking Sam to theatre, watching him go to sleep with the anesthetic, not knowing if he would recover.
This was followed by the joy of Professor Tan's phone call. Michelle and I shed tears of anxiety and joy all day! Going to see Sam in intensive care was another extraordinary part of the day.
The joy of seeing Sam again was balanced with the pain of seeing him recovering from the operation, attached to various machines by so many wires. It was an exhausting day for all of us.
On this day I realised for the first time how lucky we were to live in Australia with such wonderful nurses, doctors, and surgeons. The amount of faith you put in their hands is enormous, and we are eternally grateful for their skill and demeanor. The medical staff at the Women’s and Children’s Hospital oozed confidence, kindness, and modesty throughout this experience.
The picture to the right is of Sam, with 10 week old Charlie and I, in intensive care, one day after his operation, with his new feeding tube attached.
Sam is an extraordinary boy! Notice he is already blowing kisses on his hand to the nurses. He was always such a flirt with them!
Sam's recovery was incredible and one week later he was home.
The picture to the right is of Sam the day he left hospital, the 2nd of June, 2002.
Looking after Sam after his operations
Michelle and I had to adjust to his new tube feeding arrangements at home. Sam's formula had to be mixed to a particular recipe. The formula was full of all the calories, vitamins and minerals a growing boy would ever need. He put on weight immediately and looked very healthy.
Tube feeding did have its share of dramas initially however. On some occasions we'd go to disconnect Sam from his feed in the morning, only to find the tube had disconnected itself from his gastrostomy button during the night and Sam would be lying in a bath of sticky iced coffee coloured formula!
Strangely, as soon as Sam commenced his tube feeding he never put anything in his mouth again except for his own fingers! He couldn't even be tempted with a chocolate biscuit! Sam remarkably adjusted to his new button and tube feeding routine as if it was the norm.
Within the next 2 weeks Sam was able to be part of some big family events. Aunty Caroline’s wedding to Tim was on the 8th of June (only 5 days after he left hospital), Michelle's birthday was on the 20th June, followed by his own 2nd birthday on the 30th of June. It was simply wonderful to have him home again for these family events.
Photos to the right are of Sam on his 2nd birthday, 30th June 2002, with his Auntie Julia, and with Michelle below right.
Sam was happy and content as always, and was now putting on some weight. In fact after 2 weeks af being home he had put on 2 kilograms and was starting to look podgy!