Pierce was born in August 2005 in Sydney, Australia and apart from having displaced hips, Pierce appeared to be a perfectly healthy little boy. For Pierce’s Daddy and I, it was love at first sight. Our red headed little boy was placid and had a wise look about him that was noted by a number of the nurses and visitors alike. Pierce went home in a hip harness and remained in that for four months.
When Pierce was about two weeks old we noticed a prominent lump on his neck that resembled a tumor. It was diagnosed as torticollis (tightness in one of the two strap muscles that connect the breastbone, head, and neck, and allow a baby to turn their neck). We were told it was from the way he was delivered and that with physiotherapy it would disappear. However, over time the torticollis became larger and was pulling his head out of shape, so at nine months of age he was operated on at Sydney Children’s Hospital (SCH), in order to release the torticollis.
Three months later Pierce’s hips re-displaced and he was forced to go back into a rhino harness, which was terribly restrictive. It was at this stage that Greg and I became concerned that there was something ‘more’ and that all of these medical issues were linked. We asked one of the specialists who was looking after his hips to do some more tests. By this time, Amelie, Pierce’s sister, was born and my husband, Greg, had deployed to Iraq and I was in a busy job at the Aviation Regiment. I received a letter and then a phone call to say that I needed to make arrangements to travel back down to Sydney for Pierce to be seen by the Neuromuscular Clinic at SCH.
I flew down to Sydney with Pierce within a week and saw the Neuromuscular Clinical Team. They told me that based upon the blood test results and what they had observed that morning they believed Pierce was suffering from a rare and aggressive form of Muscular Dystrophy called Ullrichs CMD or Collagen VI deficiency.
On that day, our lives changed! There is the before and the after diagnosis, that every family in this situation experiences. I remember leaving the hospital that morning feeling like I had walked through those double sliding doors into a new world..,….not a bad world, just a different world. I lost all the naivety and innocence I had, that day. Someone gave us a crystal ball that we didn’t ask for.
After Pierce’s diagnosis, we moved to Canberra so that Pierce could receive the best treatment available in Australia. Therapy ACT, the Sydney Children’s Hospital Neuromuscular Clinic and Pierce’s school all work together to provide Pierce with the best care and support.
Pierce turned four in August and is an amazing, funny and highly intelligent little boy. He is an extremely affectionate boy and ‘demands’ lots of kisses and cuddles. He has started school two mornings a week and loves seeing the teachers and playing with the other children – he has already been spoken to for talking too much in class!! He regularly attends physiotherapy sessions and does many other activities to try and slow the deterioration process.
Both he and his sister Amelie love playing outside, doing puzzles, painting, Lego, but, most of all they love to cuddle up with mummy and daddy and read a book or watch a Disney movie.
Congenital Muscular DystrophyA group of diseases causing muscle weakness at birth. Several defined genetic mutations cause muscles to break down faster than they can repair or grow. A child with CMD may have various neurological or physical impairments. Some children never gain the ability to walk, while others lose the ability as they grow older. Learn more...