Patients Perspectives

As a young adult who suffers from a rare disease (Gaucher disease type III) who is trying to find her way in the world there have been many challenges I have had to overcome and still face every day of my life. From very early on in my journey my parents were told I would not live long enough to see adulthood, this, of course was not true nor was it an isolated incident. Despite the advances in awareness and diagnostic technology, some parents, patients and their families are still given the wrong diagnoses or face a delay in diagnosis; this considered there is a great sense amongst the young adult Gaucher community that the future is uncertain, not only regarding treatment and quality of life, but also education/employment and the ability to integrate into society. This is perhaps why mental health is such a serious issue for patients with rare diseases – I have first-hand experience of suffering with anxiety and depression, which was no doubt exacerbated by the ‘unknowns’ I have mentioned above.