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Lucy is joined by Helena Baker who was born with a congenital limb defect, worked as a nurse and is the outgoing CEO of Rare Disease Nurse Network.
Helena was born with fibular hemimelia - a disorder of limb budding results in a congenital limb malformation characterized by complete or partial absence of the fibula bone combined with dysplasia and hypoplasia of the tibia and dysplasia, hypoplasia or aplasia of parts of the foot (Orphanet).
Despite having 100s of operations and having a fairly classical presentation of this condition Helena did not know her diagnosis until aged 49.5 years. Despite the name of the condition not changing her management it meant a lot to her family to be able to understand that nobody was to blame for what Helena had endured her whole life. And not long after Helena had to come to terms with the requirement to amputate her "little foot".
In this episode Lucy and Helena talk openly about how an assumption of knowledge left her in the dark about her diagnosis, what it's like to say goodbye to your own limb and how coordination of care and better communication could make all the difference to people like Helena. Which is why she is passionate that RDNN become the Macmillan equivalent for rare disease.
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