Maria Vamvakinou (Calwell, Australian Labor Party) Share this | Hansard source

Today is XLH Awareness Day. I'd like to acknowledge the work of XLH Australia and, in particular, its president, Ms Sandy Bevc, who's in the gallery with us today—hi, Sandy. Sandy is a constituent of mine who is in Canberra for a parliamentary briefing on XLH, a debilitating rare disease which affects families both in my electorate and across Australia.

X-linked hypophosphatemia is an inherited disorder characterised by low levels of phosphate in the blood. Patients with XLH experience abnormal and often painful bone and dental development, with many developing rickets, presenting with knocked knees or bowing of the legs. It's a rare hereditary disease, with less than one in 20,000 people suffering from XLH in Australia. We have families who are affected by it with, often, three generations of sufferers.

XLH is currently not curable, which is why the work of XLH Australia is particularly important not only to promote community awareness but also to provide support, education and information for affected families and medical professions. This awareness is also important for the medical community, as XLH is often undiagnosed, or misdiagnosed as simply a case of vitamin D deficiency, because of the fact that it is such a very rare genetic condition. Early diagnosis is important for effective treatment to maintain quality of life. A key part of XLH Australia's mission is raising awareness. I want to commend their work to the House.

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