Meckenzie was born unexpectedly on 30 October 2007. She spent 17 days in NICU as right after birth she had difficulty breathing on her own. While in the NICU she also developed pneumonia, becoming quite ill. By the age of 2 ½ Meckenzie had developed normally and reached all her milestones. It was not until a year later, when Meckenzie was about 3½ that I began to really worry about her delay with
toilet training. She experienced many accidents and between her and I there were lots of tears. At one stage I strongly considered putting her back on to nappies 24/7, but instead I just kept on battling it out. When I started working again, in August 2011, we enrolled Meckenzie at 3 year old kinder. Not long after this, the penny dropped with her and the toilet training became successful. We made the assumption that peer pressure and seeing what the other kids did helped the toilet training along. She still had accidents though, which were usually due to not getting to the toilet on time or adrenalin rush in response to being nervous or fearful – both of these situations still happen today. By mid-2012 she was completely off daytime and night nappies – it was a WIN! Notwithstanding this big win, Meckenzie still struggles with unexplained bouts of diarrhoea. Halfway through her 4 year old kinder year (2012) I really started to worry about whether Meckenzie was ready for Prep the following year. Her comprehension was just not up to speed and although we felt her speech development was okay, we questioned whether she had auditory processing difficulties. She could only follow one short instruction at a time and she could only repeat back to us a portion of the instruction, usually the last few words. I approached the Kinder Manager asking her to offer her opinion on Meckenzie’s readiness for Prep. Unfortunately my requests fell on deaf ears for months on end. Eventually I just left it, hoping that once she started Prep she would catch up and sail along. Besides this, she would have only turned 5 at the end of October 2012, so with this in mind, we gave her the benefit of the doubt. Less than a week after Meckenzie started Prep, the class teacher approached me, very concerned about the fact that Meckenzie had great difficulty sitting still, focusing, following instructions and general fine motor skills. Her teacher requested a psychological assessment. This took place a week later and at that time, the psychologist diagnosed a mild intellectual disability. This was very shocking for us to hear, but we were positive that this disability could be overcome with the correct therapy. This diagnosis also triggered a visit to the paediatrician. I offered as much history as possible to the paediatrician, from pregnancy right up to the day I sat in front of him. Although he could not pin-point what might have been the root of Meckenzie’s difficulties, he was knowledgeable enough to know what should initially be tested for in her blood and urine. After all the tests and visits to the paediatrician, on 23rd May 2013 Meckenzie was diagnosed with Sanfilippo Syndrome type A. It is hard to put into words how we felt on this day and the days and weeks that followed. This diagnosis caught us by complete surprise. Until that day, we were unaware that Meckenzie was predisposed to inheriting this disease. The fact that Shaun and I are both carriers of a gene mutation that causes Sanfilippo Syndrome came as a great shock to us and our extended families. There is no known history of any other family members being affected by this disease. During the months following Meckenzie’s diagnosis, as a family, we took the time to come to terms with the full extent and reality of her future, and ours. We chose not to socialise too often, and confided our news with our closest family and friends only. We found ourselves grieving the loss of a bright and vibrant future that we now know she will never experience, and our dreams of her achieving success in her life. Our indescribable heartache and devastation will remain unmeasured, always. As a mother, I have come to learn that, unless a parent is in this same or similar situation, it is incredibly hard to grasp that ultimate feeling of loss (of a child). I certainly didn’t grasp it until the 23rd May 2013, although we have not reached the hardest part yet. At first, it’s not the loss of life that one grieves, it’s the shattered dreams; the things we take for granted, the times and events in our lives we just assume will take place. I now know that growing old is a privilege. Although our lives go on, we will forever live under a cloud. We can no longer claim to be truly happy and content; that part of us has been lost. Despite this, we do our best to maintain a “happy” home life for Meckenzie and especially her big brother, Kyle. He is a sensitive, kind and deeply thoughtful son and brother, and his feelings are paramount to us. We are respectful and understanding of his emotions and personal grief about his sister. In September 2013, we made the decision to take Meckenzie out of main stream school and place her in a special development school. We believe this was the right decision for her as this special needs environment would better suit her current and future changing physical and mental needs. The school and its staff have shown great support to Meckenzie and us as a family. Right now, she is physically well and normal, although extremely hyperactive, but we know all of this will change. Mentally, she struggles with cognitive processes (executive functions) including working memory, reasoning, task flexibility and problem solving. She is unaware, and we believe always will be, that she is “different”. Meckenzie is a beautiful, happy, extroverted, inquisitive and incredibly affectionate little girl. She talks to, and engages, with every passer-by, regardless of age, colour or creed. I believe each and every person that crosses paths with her is left pondering their encounter with her. She is an unforgettable little girl with a big personality, and she amazes us constantly with her ability to brighten even the saddest person’s day. She treats everyone in her life with equal affection and inquires with the same interest. Her relationships with family and friends are unwavering. She is our beautiful social butterfly, food lover and hero. Looking forward, we are committed to raising awareness about Sanfilippo Syndrome and other related diseases. Ultimately we want a treatment to become available, for our daughter and every other beautiful child around the world who is afflicted with this devastating disease. It is our hope, by working together with other Sanfilippo families in Australia and around the world, that we can make this happen. Together we are strong!
