Let us know what you think of this episode! We read every comment we receive.Aged six Alexander developed a squint and hearing loss which didn't cause too much alarm until he started displaying strange behaviours akin to dementia such forgetting where his bedroom was. Despite concerns from Alex's parents, school and grandparents these symptoms were initially dismissed by the local GP. Sadly Alexander was not seen urgently for what would turn out to be a progressive condition that could only be mitigated by timely treatment with a bone marrow transplant.Aged six both Alex and his twin brother, Cameron, were diagnosed with the devastating condition, cerebral leukodystrophy. This is an x-linked condition that they had inherited through their mum, Karen, who was 40 weeks pregnant with her third son at the time.The following events are unimaginable for anyone who's not lived through it and, Karen says, looking back she also finds it hard to believe what happened. Karen and her husband were given Alexander's diagnosis on a Friday afternoon and received no support or follow up over the longest weekend of their lives. But their GP stepped up and literally turned up at their house to say he and his colleagues would be there for whatever they needed.This one small act set the tone for a supportive relationship from then on, putting the diagnostic odyssey behind them, and looking to the future as a partnership in the family's holistic care. This plus peer support through Alex The Leukodystrophy Charity were lifelines and continue to be lifelines for Karen and her family.Links The Alex Leukodystrophy Charity (Alex TLC)Improving clinical care by learning about lived experience - a talk by Karen Harrison and Dr Alexandra Downes.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, Novartis, Orchard Therapeutics 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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