Let us know what you think of this episode! We read every comment we receive.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. Sponsorship NoticeThis podcast is brought to you by Medics4RareDiseases. M4RD receives sponsorship from commercial companies. In 2022 this includes: Alexion Therapeutics, Amicus Therapeutics UK Ltd, BioMarin, Bionical Emas, Healx, Kyowa Kirin and SOBI. These companies have no editorial control over this or any other M4RD content. Sponsorship does not equate to endorsement of companies or products. Views expressed during this podcast are personal and don't reflect those of M4RD sponsors. Go here to find out more about how M4RD works with sponsors. Companies have no editorial control over any of M4RD's activities or content of this podcast.Views, ideas and opinions expressed in this podcast are personal to the individual and Medics4RareDiseases does not accept responsibility for those expressed by guests.M4RD receives funding from commercial companies which it works independently from. M4RD's Partners and Funders do not accept responsibility for any views expressed in this podcast. M4RD does not endorse any companies or products that it receives sponsorship from. For more information please see the show notes and www.m4rd.org/sponsors #DareToThinkRare

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“What did the council decide on item 42?” — answered with the speaker and the moment.

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