Posted - September 2015 in Community Members
Hi, my name is Leanne and my nine year old daughter Aleacia has complicated SPG3A HSP.
Aleacia is the youngest of my 5 children and when she was about 6 months old I noticed she wasn’t meeting her milestones. As she grew she could never sit unsupported, pull herself to stand or crawl other than commando. At age 2 she was diagnosed with Cerebral Palsy even though her MRIs were normal and all her doctors and therapists said that she never did ‘fit’ the diagnosis.
Through Melbourne’s Royal Children’s Hospital she had numerous tests done to see if they could find what they were dealing with. But it wasn’t until 2014 when they did an EMG and nerve conduction they found they were dealing with a nerve issue not a muscle issue. They also did nerve and muscle biopsies. At that time they had funding for kids with no formal diagnosis to have gene testing done to look for rare diseases and sent Aleacia’s, my husband John’s and my own blood to Perth. Months later it came back that they found an unclassified sequence variant in exon 12 of the ATL1 gene. So along with the Peripheral Neuropathy, the EMG found she now has the diagnosis of complicated SPG3A HSP of which our Neurologist has only found two other reported cases with the same phenotype (symptom profile).
Aleacia’s whole body is affected, she’s never been continent and has never walked independently. She was 3 when she got her first wheelchair, 4 before she could use a posterior walker for very short distances and now at age 9 she has a power wheelchair. She’s had several surgeries to release her adductors and soft tissue releases on her feet to keep her in AFOs for as long as possible. She attends mainstream school and is bright and popular with a wicked sense of humour.
Sadly Aleacia’s symptoms have progressed and she can only manage a few minutes in her walker now, her hands are so weak she can no longer make a fist or lift anything heavier than a small toy. She can no longer bunny hop crawl and her lung function is worsening. Our Neurologist said because she is so rare we don’t know what the future holds for her. But right now we take each day as it comes, Aleacia is healthy, she is bright and bubbly and lights up a room with her outgoing personality. We are praying for a cure, or at least to somehow stop or slow her progression.