Aleacia's HSP Journey

When Aleacia didn't meet her milestones I knew there was something wrong. At 8 months old our GP suspected Cerebral Palsy and appointments with a Paediatrician confirmed this. He said, "Worst case scenario she would need a walking frame, best case scenario she would have a limp." All Aleacia's therapists and doctors agreed she never 'fit' the diagnosis. She had several brain and spine MRI's which were normal. She had every imaginable test looking for answers. But eventually they put her down as having Cerebral Palsy.. Her Orthopedic Surgeon called her his little 'Enigma'. Then when Aleacia's symptoms started progressing alarm bells went off and the search for a diagnosis started again. It was thought she may possibly have Ullrich Muscular Dystrophy because she had several markers. So the team at the Royal Children's Hospital Melbourne organised for her to have nerve and muscle biopsies done. They also arranged to have never conduction and an EMG done. The results of these tests showed that it was a nerve issue Aleacia has, not a muscle issue. Around that same time funding became available at the hospital for kids who don't previously have a diagnosis to be tested for a range of rare disorders. This is when we found out that Aleacia has a very rare form of complicated SPG3A Hereditary Spastic Paraplegia. She is only one of 3 reported cases in the world with the same phenotype. HSP usually only affects the Upper Motor Neurons, causing weakness and spasticity of the lower limbs. Sadly for Aleacia both her Upper and Lower Motor Neurons are affected causing weakness and spasticity in her whole body. This is her journey...