Our third child Daniel James O’Brien was born extremely quickly on the 30th December 2008, with a rare form of Congenital Muscular Dystrophy (CMD) called LMNA-CMD or LCMD. There are a number of different types of Muscular Dystrophies (MD) and all of these present in different ways; every child’s disease progression is also very individual. The general presentation and development of LMNA-CMD is selective: spinal weakness and wasting. Shoulders and ankles are often weak and spinal rigidity and lordosis (sway back) often develops early. Heart and lung issues develop during the early teenage years. Daniel is an individual case because his muscular dystrophy is also combined with an Arnold Chiari Malformation and hydrocephalus (water on the brain) for which he has a shunt inserted.
Daniel was diagnosed at 18 months but there were various signs present right from birth. Some I tried to ignore and pass off as, all children develop at different rates and others I could not ignore. At three months he was sent for a brain ultrasound. On the 45 minute drive to the x-ray clinic I had to pull over twice concerned that I was going to vomit. I was terrified of what they were going to find on my son’s brain. Slowly the doctors began to join the medical dots together and the words Muscular Dystrophy were stated. We were glad we had some answers but terrified when we read the only document at the time written about L-CMD. What did the future hold for our little boy?
I needed to do something to move forward so I concentrated on making the most of the limited mobility Daniel had. We now knew he would probably never walk and if he did it would only be for a short period of time. We had already begun intensive physiotherapy and hydrotherapy. These would prove to be invaluable. Daniel is at his most free whilst in the water. He really is a little fish. He loves swimming, especially being underwater.
Caring for a child with a disability always requires medical appointments. In the early days Daniel and I travelled the 90 minutes to Westmead Children’s Hospital a minimum of three times a week. This puts added strain on the family unit and financial stress due to my inability to work around the medical attention required. As Daniel’s condition has stabilised we are fortunate now to only travel to the hospital around 3 times a month.
Daniel received his first power wheelchair at approximately 2 ½ years of age. The independence this gave him was amazing. He very quickly became an expert at driving his chair and it was amazing to watch him discover the world around him. He was finally able to chase the other children around the yard and generally make a nuisance of himself. At three, Daniel was given the chance to trial a steroid treatment. This has had an enormous impact on his life. Every element of Daniel’s muscle strength has improved dramatically, his voice is stronger, he is now able to eat solid food, he can walk, he can climb stairs with assistance, his bladder control has improved, his lung strength has significantly improved and his general sense of self is unbeatable.
Daniel’s sisters have been an enormous stabilising factor in his life. All three children are expected to pull their weight around the house and all three children get in trouble, but the girls also know how to lift Daniel correctly to put him on the toilet or help him wash his hands. They carry him onto and off the school bus each day holding him in his seat each time the bus stops. These are small things they do on a daily basis without even noting that it is more than most siblings are expected to do.
Daniel has a very positive attitude to life and does not let anything get in his way. When presented with a problem and something he can’t do he thinks outside the box and works out how he can make it happen. Sometimes he asks for help but more often than not he manages to find a solution on his own. Daniel started school this year and it has not been without its hiccups but it has been nothing but a positive experience. A teacher’s aide meets him at the bus stop with his wheelchair daily, where he happily jumps in and then races off to find his friends.
Daniel is an intelligent, funny, determined 5 year old boy. He addresses every challenge with a wisdom well beyond his years. He understands that right now there are things he can’t do and that over time he will find more and more things difficult but he understands better than I do that that is ok, he is much more than the things he can’t do.
Muscular Dystrophy has changed our lives forever, but we have been blessed with a little boy who livens up our house with hilarious comments and antics; he has given us a different view on life. He is truly the most resilient and capable little boy who constantly pushes his physical boundaries and we love him to bits.