Sam’s Story Part 2Sam's DiagnosisIt 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 HistoryOne 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 suprise 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.
Sam Turns Three!
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. The photo, above right, is of Sam on a home visit, in February 2005.
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.
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