Our third child, Tom, is an extremely cheerful and loving twelve-year-old full of laughter and smiles, yet he has had a complicated medical history and has undergone over 35 general anaesthetics and medical procedures to keep him stable.
From birth, Tom was different than his two older siblings. He had a poor suck and swallow and little interest in feeding.
At the age of three months Tom was admitted to hospital for dehydration and investigation of food refusal and weight loss. Naso-gastric tube feeds were commenced. He was initially diagnosed with a laryngeal cleft, although further testing resulted in a diagnosis of a laryngeal notch, gastro-oesophageal reflux, delayed gastric emptying, poor gut motility and aspiration into his lungs.
Tom has seen a number of gastroenterologist and genetics doctors both at The Children’s Hospital Westmead and at Sydney Children’s Hospital. He had numerous investigations to look for a cause for his swallowing and gut motility problems. Drugs were tried to aid his this , but they were proven ineffective. Tom’s gross motor milestones were slower than his siblings and his speech was slower to develop. Over his first five years of life he spent many months in hospital dedicated to resolving his feeding problems to allow him to thrive.
Due to the poor motility of Tom’s stomach he had a seven hour bowel reconstruction which allows him to be fed into the bowel via enteral feeding day and night. Feeding directly into the bowel has allowed Tom to thrive and helped reduce the pain and nausea caused by poor stomach motility and vomiting. Although enteral feeding can be difficult and time consuming, it has kept Tom strong.
In 2008, after enduring many doctors and endless tests it was concluded that Tom had a mitochondrial disease. At present he is under the care of Dr Louis Cheung and Dr Rani Schevdec at Sydney Children’s Hospital, Professor Carolyn Sue at Royal North Shore Hospital, and Professor John Christodoulou at The Children’s Hospital Westmead.
Today Tom looks like a healthy child on the outside; however, his symptoms are progressing. He fatigues easily, he has swallowing difficulties and at times it’s difficult to understand his speech. He experiences a lot of pain in his muscles due to cramping and ‘pins and needles’ – a neuropathic type of pain. He has Episodic Cluster Headaches which cause excruciating and debilitating pain. His joints are painful and stiff; His eyes are deteriorated. Tom has experienced ‘stroke-like’ episodes which affect his speech and memory. At times his speech is very poor or he cannot speak for a few hours, which really upsets him. His hearing is now being affected by the disease.
Tom attends Shore Prep School in Sydney. The school has been tremendously supportive and proactive. He attends shorter school days to try and conserve his energy levels. A carer assists him in the classroom as he tires easily, loses focus and is finding learning a challenge. He experiences difficulty with short term memory loss which seems to be progressing.
It has been suggested that with the onset of puberty the symptoms of the disease may accelerate as the body is using a lot of energy. As mitochondrial disease is an ‘energy’ disease, puberty can create an energy overload to the system resulting in extreme tiredness and progression of the disease.
As parents we live our lives with uncertainty as the disease progresses. We never know what new symptom will be around the corner. To date with the amazing support of our family, friends and school community we have raised over $230,000.00 through numerous fundraising ventures. Our aim is to share our energy to help raise funds for research into the diagnosis, treatment and cure of this debilitating disease. The more support and understanding, the sooner a cure will be discovered. As this is a progressive disease, particularly in children, we need to find a cure. We have learnt to enjoy each and every day.