Xavier Philip Kokken was born 21 February 2009. He is a blonde haired bundle of joy with a wicked dimpled grin and the only thing he loves more than the North Melbourne Kangaroos AFL Team is Thomas the Tank Engine.
Not long after Xavier was born his parents, Briony Glatz and Peter Kokken, fell pregnant with twins and on the morning of 28 March 2010 Jorja Rose and Aiden Stanley arrived – a beautiful little sister and brother.
In 2012 both Xavier and Aiden were diagnosed with Duchenne Muscular Dystrophy (DMD) and the gorgeous, curly haired Aiden with an infectious giggle was also found to be autistic.
DMD is a rapidly progressive form of muscular dystrophy that occurs primarily in boys as a result of genetic disorder. Boys with DMD do not make the dystrophin protein in their muscles and this protein is essential for keeping muscles structurally sound. Whilst it is possible for DMD to randomly manifest, most often, as in this case, the mother is a relatively unaffected and unknowing carrier of the affected gene. For carriers there is still only a 25% chance of having an affected child – making the Kokken Boys unlucky little fellas – the probability of one family having two children with DMD is 6.25%.
The bad news is DMD is a fatal genetic disorder. The progressive muscle weakness will make it harder and harder for the boys to walk. Usually the ability to walk completely disintegrates between the ages of 9 and 12 years of age resulting in dependence on a wheelchair. Eventually the muscle weakness leads to serious medical problems, particularly issues relating to the heart and lungs. Young men with Duchenne typically live into their late twenties. Although there are medical treatments that may help slow its progression, there is currently no cure for Duchenne.
The good news is, with high standards of care and therapy, some young men are now living well into their 30s. Early planning can ensure the best of supports for later life care, which will not only ensure greater longevity but also mean greater quality of life for the boys. Three cheers for being organised 😉