6/8/2009: Sydney, NSW—Australian Family Copes with CMTI was a little surprised when Peter first mentioned his 'disability' on our first date. 'What disability?' I asked. So began my lifelong education and passion for a condition called Charcot-Marie-Tooth (CMT), a condition which would have an impact on my lives and those of my family.
CMT, I learnt, was a condition Peter had inherited from his mother; this condition generally affects people's gross, fine motor and balancing skills. I learnt CMT is not generally a totally debilitating condition but that it can make life exhausting and more challenging. I also learnt that people with CMT have no cognitive or intellectual symptoms and that they don't look 'different' from the rest of us.
Growing up with CMT meant Peter had trouble walking and running. He couldn't swim confidently, and was unable to play sport or surf. Peter was forced to rely on others for assistance, even though casual observers could not see any signs of his disability.
As my relationship with Peter developed, it became clear we would marry and have children. But before we married, we had to face the reality that CMT is an inherited condition, and that we had a one in two chance of passing on the gene to our children.
Genetic testing
After marrying we investigated genetic counselling. We were encouraged when the counsellor commented: 'You know more about the implications of CMT than most people. Go ahead'.
But some people criticised us. They asked why would we risk having a child with such a disease and subject them to a life of 'unhappiness'? However, we knew there were plenty of people in Peter's family with CMT and they all seemed happy. Admittedly, there were often tired, frustrated and troubled with pain, but they were happy.
By the time I fell pregnant we had already decided not to undergo pre-natal tests for CMT, these tests could increase my risk of miscarriage, and anyway, we knew we would not terminate the pregnancy.
Matilda, whose name means 'strength and strife', arrived 9 ½ weeks early. At this stage CMT was far from our minds; we were focused on getting our baby well enough to leave hospital. We waited until Matilda was 12 months old before she had the tests. Three months later the results confirmed she had CMT 1a, the most common form of the disease.
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