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FAIR FOR RARE: Juanita’S STORY

In 2012 we took our five-year-old son Damian to the Paediatrician. He had had a few health concerns and we thought that we might get a diagnosis of ADHD; we hadn’t considered anything seriously concerning beyond that. Our Paediatrician immediately knew he had a Lysosomal Storage Disorder and Damian was then tested for Mucopolysaccharidosis type I. The results came back negative, but by this time I had Googled all 50 of the Lysosomal Storage Disorders and agreed with our Paediatrician.  Our daughter Jesse-Rose had similar symptoms as Damian so we knew whatever Damian’s diagnosis Jesse-Rose was likely to have it also.

 

It took another five months for a diagnosis, during which time we visited the metabolic clinic to confirm Mucolipidosis III, which is very similar in symptoms to Mucopolysaccharidosis I, but rarer. We went in expecting ADHD and were completely and utterly thrown into a diagnosis that is degenerative and had no cure.

 

Damian and Jesse-Rose currently have bone pain, stiff joints & fatigue, and need assistance with dressing and daily activities. They both have a wheelchair, but Damian has to use his 99% of the time because of avascular necrosis of his hips, which has caused one leg to be shorter than the other. Both Damian and Jesse-Rose become easily fatigued and often have to nap after school, sometimes during school too. This also means that they can't do much physically. Mucolipidosis III is a progressive disease, which only gets worse as they get older. Damian has heart abnormalities and may need valve replacements as he gets older, which also leads to the possibility that it may develop into corneal clouding and require corneal transplants. About half of people with this condition have mild intellectual disability or learning difficulties. There is only minimal treatment, for Mucolipidosis III leaving patients with the reactive surgeries as the only option. Generally people with Mucolipidosis III survive into adulthood, but they may have a shortened life span.

 

Damian & Jesse-Rose see a number of specialists to monitor their disease. They have six monthly appointments with their Paediatrician who is also their Rhuematologist and Pain Doctor. They see three separate Orthopaedic Specialists, to monitor their spine, neck, and hands. They also have annual check ups to see a heart specialist, ophthalmologist, physiotherapists and occupational therapists. This allows for early intervention when surgeries are needed before there is serious degeneration. With no cure, each symptom is treated with surgery and increasing reliance on pain relief as the Lysosomal storage increases. Hydrotherapy helps their stiff joints, but because they are so young, 11 & 9, they are very exuberant in the pool and fatigue sets in very fast. We are going to try hydrotherapy again in a few years once they understand their energy output equals how long they can participate.

 

There has previously been no research into Mucolipidosis III because of the rarity. This year that changed when the Mucolipidosis families fundraised internationally and we were able to attract the interest of researchers for Gene Therapy Replacement. This brings so much hope to us that Damian and Jesse-Rose might have a potential cure in the future, but Australia needs a nationally coordinated program of research on rare diseases that is informed by patients and carers.