XLH has a serious publicity problem. Like many rare diseases, most doctors have never heard of XLH, leading to misdiagnoses. Compounding this is the potentially damaging misperception that XLH is 'just a children's disease', despite being a lifelong condition, making it difficult for adults to find specialists who can provide the right care.
Emily McKechnie was misdiagnosed with dwarfism when she was five. It took another 11 years for doctors to discover that she was actually suffering from XLH and realise that the strong drugs and painful surgeries she'd been forced to undergo for more than a decade were based...