Life is forever evolving, we are not the same as before we started our Duchenne/ Becker Muscular Dystrophy journey, we are different and that’s ok. Because life has new meaning, life is now cherished. But I will start at the beginning, so you can understand and hopefully share in our hope that there is a better tomorrow, while still relishing what we have today.
Everyone thinks they have time in this life, but the reality is, sometimes your road takes you on a different path, an unexpected path not budgeted for. Our family tragedy hit sooner and twice as hard as most.
In December 2014 at a visit to our paediatrician for our oldest son Oscar, then aged 6, we first heard the words, DUCHENNE MUSCULAR DYSTROPHY, which was a slip of the tongue by our doctor, who was on the phone discussing his initial bloodwork.
These three foreign devastating words that hold such costly multiple losses became our life.
Our youngest son Hugo, started his journey of diagnosis two months later at the age of 2.
After a year of bloodwork, physical tests, genetics, biopsy, multiple of specialists, 2 neurologists, and 3 changed diagnoses of Limb Girdle, Becker and Duchenne, and a National Muscular Dystrophy database that tells us our boys have a unique mutation (exon 75) within a rare incurable disease. We thought we were finally at the end of our MD diagnosis road, but unfortunately it seemed, back at the beginning, at those 3 words, DUCHENNE MUSCULAR DYSTROPHY.
It was a long period of grief, loss, acceptance, balance and finally the power of love to stand up and fight for our sons Oscar and Hugo, to have the best life we can give.
Our superheros have always struggled with cognitive processing, sensory issues, speech, language and communication, so it was no surprise that in 2017 both boys were officially diagnosed with Autism as secondary diagnoses. But as research has become one of the keys to our lives we have discovered that there are so many young men equally affected by the Autism brush, Duchenne/Becker MD is not just a physical disability.
There aren’t many times in life you get to hit the restart button, but in May of 2017 after 18 months the boys genetic testing results came in from Perth. Our Neuro, Dr Cairns waved what felt like a magic wand and gave us the impossible, a new diagnosis.
We were so overwhelming happy to say the boys had Becker Muscular Dystrophy. So, strange to say happy, but with Becker’s brought, hope, hope that our boys grow to men.
But as the boy’s diagnosis seems like a forever revolving door, and after 6 months of physical decline, we were hit again in March 2018 at our clinic day, to be brought right back to the beginning of those three words ‘DUCHENNE MUSCULAR DYSTROPHY’. The boys have been given a new label of ‘Intermediate Duchenne Muscular Dystrophy’, in our words ‘a good Duchenne’ its almost laughable but we hold on dearly to the word ‘good’.
Our boys fight is in its infancy, we have not hit the true darkness that is yet to come.
Unfortunately, ongoing costs will increase as this horrible disease, Duchenne takes hold, wheelchairs, lifts, household aids, communication aids, mechanical ventilation, respiratory simulation, simulated cough machines, transport modifications and services with OT, physio etc are but to name a few of the costs we must factor in.
But not forgetting that our boys also must live an extraordinary life while they can still walk is also one of our major mile stones we wish to make true for them and yes of course this also comes at a cost.
Our evolution through this diagnosis jungle and the battle ahead that our boys face, has taught us, that you must live every day, so we will continue to do just that.
We need our community more than ever to stand with us against this horrible disease, we ask for your support by joining us on our journey.
With Deepest Thanks, Anna and John Williams (aka Mummy and Daddy)
#williamsbrotherswish #wbw
Duchenne Info.
Duchenne Muscular Dystrophy is in a group of neuromuscular diseases that cause progressive weakness and loss of muscle mass, in Muscular Dystrophy, abnormal genes (mutations) interfere with the production of proteins needed to form healthy muscle.
In Duchenne Muscular Dystrophy symptoms begin in very early childhood and progress rapidly, eventually losing the ability to walk by ages 8 to 12 years and leaves them fighting multiple implications, affecting their heart, lungs and the ability to swallow.
DMD occurs in about 1 out of every 3,500 male infants, and very rarely it also affects girls (approximately 1 in 50 million girls). More boys have Duchenne because the gene that causes it – the dystrophin gene – is located on the X chromosome. Few see the age of 30.
There is no known cure; treatment is directed towards symptoms, such as assisting with mobility, preventing scoliosis and providing pulmonary therapy. Gene replacement with dystrophin minigenes is being investigated but still no cure appears around the corner.
