tom's Story
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Our third child, Tom, is an extremely cheerful and loving six-year-old full of laughter and smiles, yet he has had a complicated medical history and has undergone over 26 general anaesthetics and medical procedures to keep him healthy. From birth, Tom was different from 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. |
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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 poor gut motility, 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.
To date Tom has displayed little spontaneous interest in food or drink and is fed into the bowel via enteral feeding day and night. Feeding directly into the bowel has 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 it was concluded that Tom had a mitochondrial disease, although it is not yet clear which type he has. At present he is under the care of Dr Jonny Taitz and Dr Rani Schevdec at Sydney Children’s Hospital, Prof Carolyn Sue at Royal North Shore Hospital, and Prof John Christodoulou at The Children’s Hospital Westmead.
Today Tom looks like a healthy child, however, his symptoms are progressing. He has experienced a lot of pain in his muscles due to cramping and ‘pins and needles’ - a neuropathic type of pain. A mix of supplements – ‘Mito cocktail’ - has reduced the muscle pain.
In the past year Tom’s eyes have deteriorated rapidly. His retina is very damaged with loss to his night, peripheral and some day vision. He only has central vision remaining, although he seems to be functioning well on this narrow vision field. He may lose all his vision, however, no definitive answer can be given. Tom is also experiencing ‘stroke-like’ episodes which affect his speech and memory. At times he can not speak for a few hours, a relatively new symptom which really upsets him. He hits his head in frustration when he can not remember or speak.
Tom started school this year at Shore Prep School in Northbridge, who have been tremendously supportive and proactive. He only attends three half days as opposed to five full days to try and conserve his energy levels. A carer assists him in the classroom as he tires easily and is finding learning a challenge.
It has been suggested that with the onset of schooling the symptoms of the disease can accelerate as the body is using a lot of energy to learn. As mitochondrial disease is an ‘energy’ disease, learning can create an energy overload to the system resulting in extreme tiredness and progression of the disease. We hope that Tom can remain at school, however, only time will tell. My aim is to share my 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.
Martine Vanderspuy
To help Tom and Martine raise funds for research, join Stay in Bed Day on 22 August 2010 or sponsor Tom by clicking here>>
Mitochondrial disease has no cure to date. Mitochondrial disease occurs when the body cannot make enough energy. Mitochondria are the organelles that are the "powerhouses" of the cells. The mitochondria convert the energy of food molecules into energy (ATP) that powers most cell functions. Without efficient ATP production cells die and can result in multiple organ failure and death. Some people feel extraordinarily tired, others have incredible pain or muscle weakness, many have stroke-like symptoms, and some experience organ failure.
Mitochondrial disease leaves families isolated not only because of the physical disabilities of the illness, but also the problem of fatigue which inhibits many activities. People generally do not understand the complexities of the disease. Pronouncing it is hard enough. If you have cancer, heart disease, or muscular dystrophy, the public generally has an understanding of what you are talking about. However if you spend 20 minutes explaining mito disease, you are often confronted by a blank look.
Twenty years ago, mitochondrial diseases were very much an unknown entity, something rare and difficult to diagnose. With the incredible growth and understanding of genetics, what was once thought to be a 1 in 20,000 incidence, is now thought to affect 1 in 200-250 Australians, and still possibly growing. Many illnesses were misdiagnosed in the past such as cerebral palsy, muscular dystrophy or 'we simply don’t know’. Now there are as many as 100 subgroups of mitochondrial disease.