Imagine a child who appears healthy and happy for the first years of life but then develops a fever, starts experiencing seizures, muscle pain and weakness, and dies within the year.
Imagine another child who fails to thrive from birth, frequently vomits, never gains sufficient weight and often has trouble breathing.
Imagine a child born looking neither like a girl nor a boy. How would the family of this child feel when answering the typical first question: “Is it a girl or boy”?
These children are all likely to have inherited rare genetic diseases such as mitochondrial disorders or, in the case of the third child, a disorder or difference of sex development (DSD).
Our genetic code contains about three billion bases and encodes more than 20,000 proteins, any of which may potentially cause disease if faulty, so discovering which gene underlies a rare genetic disease is often a slow and daunting task. Without a genetic diagnosis, these affected children are often subjected to ongoing tests that can be painful and are often risky. Families experience confusion and frustration, not knowing what is wrong with their child and fear that their other children could be affected.
Although each rare genetic disease affects only a small number of families, collectively they have a large impact on the health of our community. There are more than...
