TOM’S STORY BY ANDREW
Dear Parents, and any other family members old enough to read this.
My name is Andrew, and I am the father of Thomas Olive. Tom passed away 25/8/2010 at 11.30am, two hours after eating his breakfast.
The cause - severe rhabdomyolysis, which means basically his muscles melted, released all their juices in to his blood stream, poisoning his blood with lethal levels of potassium, which caused an irreversible heart attack.
Here are some of the most asked questions from other parents.
WAS HE A SICK LITTLE BOY?
No! This is one of the most dangerous traits of this killer.
Tom had approximately 6 “episodes” where half way through a normal day he would say “I can’t walk - my legs are sore”. We thought he was playing around however he continued to complain about sore legs even when resting on the lounge back in the house. We looked on the internet for possible explanations and found no reference to rhabdomyolysis.
Danger part! The next day he was fine.
We took Tom to the doctor, as it was odd that a kid you normally couldn’t stop was stopped.
A urine sample was taken and tested - we were told that traces of blood were detected. Tom was retested again and was given the all clear on the next urine test.
Possible explanations were given.
DID YOU KNOW THERE WAS ANTHING WRONG WITH TOM?
Yes - mothers intuition. Trudy felt very strongly that there was something wrong and the doctors were not taking her seriously. MOTHERS - TRUST YOUR INSTINCTS AND DON’T BE SWAYED BY ANYONE UNTIL YOU ARE SATISFIED.
COULD THEY HAVE SAVED HIM IF THEY KNEW?
YES. 25% of all “episodes” are fatal - the key is early detection of an episode.
Competant care professionals will see there monitoring equipment showing the bodies vital signs getting critical, and can act.
WERE THERE ANY OTHER SYMPTOMS
Yes. Tom, although toilet trained started to leak urine throughout some days. It had a peculiar pungant smell - a little bit like a burnt clutch pad on a car smell, it was very noticeable.
He seemed not to realise he had done it.
Even one day after lunch at our favourite family seafood place, we walked along the beach skimmed stones. Tom got very wet that day and had a fun outing. We went to the taps to change into dry clothes and wash off the sand and salt and to my horror, when helping Tom change his pants I found he had poo everywhere.
I went off about him not telling us he needed to use the toilet but looking back I don’t think he new he was doing it until it was to late. He was quite embarrassed.
It was out of character.
We took Tom repeated times to doctors, had testing done by a paediatrician, had taken him to the emergency room at the local hospital before the day he died there.
Test results suggested inter-current illness otherwise known as a virus.
They had not tested his ck levels.
Sadly 6 weeks before his death Trudy took him down to the doctors twice within an hour, then to hospital. Tom’s urine sample was reddy brown in colour.
Trudy was told it tested positive blood – more thorough testing in pathology resulted in no blood being found in the urine and it was thrown away.
It pains me beyond belief that professional care providers would discard red urine when it was not blood. “Well what is it?” should be the normal reaction.
'Take him home give him Panadol come back if it gets worse', we were told. Tom bounced back to his normal self the next day.
We were never told that later testing was negative to blood until later in our search for answers - we were told it was blood and nothing different.
Unfortunately we trusted that these guys would communicate with each other as we had 3 GP doctors, a paediatrician, and the hospital on the case - this did not happen.
The day before he passed away, Tom had a big fun day. That night, thinking he was very over tired, we thought it best not to wake him for dinner, solet him catch up on much needed sleep.
Not eating dinner the night before is also found in Sarah Vacher’s story about her beautiful late daughters. The day Tom passed is still a nightmare we live with everyday - at least we were lucky enough to be by his side when it happened.
The journey for answers about what had just taken our son began that day. The following weeks shed very little light on what the cause of death was, with testing on Tom’s organs hitting obstacles due to the destruction of the cells caused by the attack.
One of our last hopes was a fatty acid skin oxidation test done in Sydney - the 4 week wait dragged out to around 7 or 8 and didn’t result in a positive result.
There was one more thing they could try, and they had Tom’s blood sent to Paris to a research lab.
They knew Tom had suffered a metabolic attack and it was most likely rhabdomyolysis, but the trigger, the cause of the attack was still not known.
They had a hit, on one part of the mutated gene, we then sent our blood and our daughter Laura’s blood over - the second part to the mutation was found.
Our daughter Laura, thankfully, is only a carrier.
Trudy was 2 weeks pregnant when Tom passed away.
Our daughter Sarah is now 3 years and unfortunately, she too, has the double mutation.
We are very lucky to know what we now know, regarding triggers that may cause an episode and have an extensive emergency plan in place with hospitals around areas we may travel. This is a luxury that sufferers did not have in the country before now.
We heard about a boy in Port Macquarie, who had passed away the day before our Tom had, and learnt that his DNA had also been sent to Paris, because of the similarities of the symptoms surrounding his death.
Another positive hit on the double mutation of the LPIN1 gene had claimed another life. His name, Thomas Dean.
Wow - two boys both with the same name died of the same thing within 24hrs of each other, and were the first Australians recorded to do so and the 9th and 10th deaths recorded in the world.
Soon we heard about brave little Hudson Thomas Stokes, another sufferer of the double mutation, his doctors were fighting for his life in an epic battle which they eventually won.
I thought to myself 'How can there be three Australian boys, all within 30 days of each other, and two of them be the 9th and 10th death recorded in the world?' The law of probability suggests that this being as rare as we had been told may not be accurate. I feel that it is rare by diagnosis, but not as much by occurrence.
Later we heard about the darling Vacher sisters, Rebecca and Ellie. They passed away in 1990 and 1994.
So - this we now know this mutation has been killing Australian kids for over 20 years. I wonder how many cases there were in between 1994 and 2010?
I know there are more kids out there today who carry this disease and don’t know it.
We have registered the “SHINE FOR THOMAS” foundation to raise awareness of the symptoms to help doctors, nurses, mums and dads, workmates and anyone who has kids throughout this country, to save the lives of affected kids. and the parents from a life sentence of heartache, after the loss of their child.
Passing on this site is one way you help – spread the word at mothers’ groups, kindy, school groups. Please help us spread the word about these symptoms on the Facebook site because at this stage this is very new to the medical world and they still currently believe in Australia that it is extremely rare, and are quick to discount these life threatening symptoms. Does anyone you know have kids that have any of these symptoms?
We will have to fast track the knowledge getting out to the broader public by other means.
You well might just save the life of your friend’s child if you help spread this message
Our work has just begun as we continue our efforts with the foundation.