Pre-Diagnosis
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.
Operations
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.
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.
After 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.
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!
Sam's Diagnosis
It was wonderful having Sam home. We had adjusted well to his routine of tube feeding. Sam was healthy and happy. We couldn't have asked for more. We were resigned to the fact we had a happy little boy who had some physical development issues and weak muscles. His operations helped to reduce his reflux and aspirating problems, and as such improve his respiratory system.
There was one problem that did continue, however, and that was his cataplexy. Sam would get so excited about some things that he would laugh and then drop to the floor asleep!
One of the neurologists noted this when he was in hospital and requested a skin biopsy when Sam was having his operations. The neurologist Dr Jim Manson had been on an overseas conference years earlier and remembered that cataplexy could be a symptom of a rare genetic disease.
Two weeks had passed coming home from hospital when Dr Phil Egan contacted us to ask if Michelle and I could come back to the hospital for an urgent meeting. Sam had tested positive to "Niemann-Pick Disease Type C" from his skin biopsy. He wanted to discuss this result with us, together with Dr Janice Fletcher, the Chief of Genetic Medicine at the Adelaide Women’s and Children’s Hospital.
We had never heard of this disease before. There was certainly no pre history of the disease in either of our families. We were in mild state of shock, but the worst was yet to come.
On the 9th July 2002 we were told in full detail the extent of Sam's Niemann-Pick Disease Type C (NPC) in the meeting with Dr Egan and Dr Fletcher.
The things I remember from the meeting were that Sam is one of only 11 children in Australia, and the only South Australian to have NPC, that Michelle and I are both genetic carriers of NPC, our other children Lucy and Charlie have 25% chance of having NPC, and that NPC is a neurological degenerative disease of which there is no known cure.
If it couldn't get any worse we were then told that because Sam had presented symptoms of NPC as an infant (reflux and swallowing problems, physical development delays, and cataplexy) he had a rare form of this rare disease and that he most likely would not live to 5 years of age.
Michelle and I were devastated. The rest of the day was a blur. We were so saddened as you could imagine-we couldn't have expected a worse diagnosis.
We were fortunate in some ways though to have a diagnosis. Sam could have had one of a thousand different types of rare genetic diseases which might not have ever been identified. I remember Dr Janice Fletcher saying in the meeting that Dr Jim Manson deserved a "gold star" for identifying the link between between cataplexy and Niemann-Pick disease. We knew now what to expect and could plan in some way for the future.
From that day onwards Michelle and I made a commitment to try to make our time with Sam as positive as possible. We wanted the remaining time we had with Sam to be filled with happy memories and joyous times, not sad. Within a week of Sam's diagnosis Michelle’s sisters organized portrait photos done of Sam and the family, and we started to plan a family holiday to the Gold Coast in Queensland.
Meanwhile we were overwhelmed with support by so many different people. As you can imagine having a sick child who requires continual medical attention, as well as an active 4 year old daughter at kindy, and a 4 month old baby, requires military type organisation!
We were so grateful for the various family and friends who made us dinners and biscuits, washed and ironed our clothes, weeded our garden, supervised Lucy and Charlie when we were both attending to Sam, and helped lay the cement floor in my new shed! This support then, and which continues now, has kept our heads above water and enabled a quality experience with Sam, Lucy, and Charlie which otherwise might not have been the case.
Post Diagnosis
One of the best things we did after receiving news of Sam's diagnosis was to organise a family holiday to the Gold Coast in sunny Queensland. Sam kept good health in the 2 months coming out of hospital and was given the green light to travel by his doctors.
We had 12 wonderful days on the Gold Coast, staying at the Outriggers Resort in Coolangatta. However, getting there was an experience in itself! We carried 8 large pieces of luggage which included a double stroller, Sam's walker, feeding pump, oxygen bottles, as well as our luggage bags! On the plane Sam had to have oxygen so we were escorted onto the plane before anyone else to have it set up. Michelle’s mum, Judy, also came along with us to help us with all the children.
The staff at Qantas were magnificent. We had a trouble free 2 and a half hour flight to Coolangatta Airport.
On arrival at Coolangatta we picked up our Toyota Tarago from Budget Rentals and loaded the van with 6 people and 8 large pieces of luggage. It was a sight to behold! We found our accomodation and settled in to our 13th floor, 3 bedroom self contained apartment on Coolangatta beach.
We opened the door of our apartment to see 12 beautiful balloons floating to the ceiling which were sent by Auntie CJ
The staff at the Outrigger Resort were likewise brilliant-they couldn't do enough for us.
In the next few days we had visits from Michelle's brother Matthew, my mum Margaret, and a surprise visit by Michelle's dad Russell.
We had a wonderful time as a family there on the Gold Coast. The weather was perfect, 25 degrees and sunny most days. We spent our days taking long walks along the beach pushing Sam and Charlie in their double stroller, and visiting the various theme parks.
Michelle and I even managed a game of golf at the prestigious "Lakes Resort" golf course. The game was given to us by some friends of ours in Adelaide.
The absolute highlight however was the day we spent at Byron Bay. If there could have been a heaven on earth it was Byron Bay! We travelled there with our three special visitors. The weather was perfect, the water warm. and the scenery breathtaking. I think everyone came home thinking that was a very special day! The children, especially Sam loved it.
A Special Time
Sam had no more hospital admissions until mid December, 2002. His health remained stable all this time and we had many quality times together as a family.
Just before Christmas 2002, however, Sam was admitted to hospital with a chest infection. He came home on Christmas Eve, thank goodness, but his physical health was beginning to deteriorate. He needed chest physio three times a day, and was put on full time oxygen. Sam’s strength was declining and he needed assistance now to sit up.
We set up a routine for Sam at home, and somehow managed to spend time with Charlie, who was crawling by this stage, and Lucy who had just started school.
During the next 6 months Sam developed numerous chest infections, and also started having seizures. He had numerous hospitalizations during this time - it was a very stressful time for the family.
During one hospitalization Michelle and I were called to a meeting with Sarah Fleming, Director of the Palliative Care Service, and Dr Phil Egan, Sam’s Pediatrician. We were advised in this meeting that it was highly likely that Sam would not survive that winter, his chest was that bad. It was suggested Sam had only 3 months to live.
A meeting was arranged by Sarah the next day, to advise our families of this news. It was a very sad time for all, as you could imagine.
It was particularly difficult advising Lucy that her brother was going to die soon.
Incredibly, Lucy coped with this news. Perhaps it was because she had, like us, seen Sam’s health continually to deteriorate.
On June 30, 2003, Sam turned three and we celebrated his birthday his birthday at home with all his loving family.
The following day, July 1 2003, Sam came down with another chest infection, the worst one yet. He was admitted into hospital again.
Sam bravely fought the chest infection with intense chest physiotherapy, and intravenous antibiotics. However, every time we went to take Sam home, he would develop another infection.
His room in the hospital became like an Aladdin’s cave of get well cards, photos, posters, Lucy’s pictures, stuffed toys and decorations! Not to mention the constant stream of well wishers!
There became an incredible feel of peace and love in his room, in stark contrast to the chaos of the hospital ward and the outside world.
Winter came and went, and then so did Christmas! The family all enjoyed a joyous day with Sam on the hospital playdeck.
Sam’s chest infection cleared, however, but the neurological degenerative nature of his disease meant he lost most of his physical functions, including his ability to smile.
His beautiful eyes, with those long, curly eyelashes became the windows to his soul.
Over Summer, Sam’s health stabilized and we were able to take him out for many outings from the hospital including to the zoo, and the botanic gardens. However, because Sam required 24 hour nursing care, and his health was very vulnerable, he remained in hospital.
Sam and the family met many special visitors whilst in hospital. He was featured in a beautiful news story by Jane Reilly on the Channel 10 News, and was visited by numerous celebrities!
On Christmas Day 2004, we decided to bring Sam home for a day visit, his first visit home since July 2003. His health had been stable for months, and we felt the time was right to bring him home.
We would lay Sam on the back seat of our station wagon, have the suction unit ready to clear any of his secretions, and drive cautiously home!
Sam’s Christmas homecoming was a truly beautiful experience, and Sam coped well. We then brought him home for a day visit each fortnight from that moment.
On April 18th 2005 Sam came down with a chest infection, Michelle and I realised “his time” was near. That day his legion of family and friends came to say goodbye.
Michelle and I spent the night with him in his beautiful room, and he passed away peacefully in our arms at 5am on April 19, 2005.
