Rarely Heard

Rebecca Butcher was born with a rare condition called Poland Syndrome that caused one of her chest muscles to be deformed and therefore means that she only developed one breast. We spoke about her experience with diagnosis and interacting with healthcare professionals; and how her belief that Poland Syndrome didn’t really affect women led her towards advocacy and connecting with a wider community of people like herself. Rebecca is passionate about empowering and informing people living with Poland Syndrome so they feel able to make choices that are right for them. She wants to see a world where those with ‘deformities’ like her are represented and visible and she dedicates her time to advocating to make it happen. If you enjoyed this podcast don’t forget to like, rate and subscribe so you never have to miss out!rarelyheard.orgRarely Heard Season two is supported by Cambridge Healthcare Research and Alexion.

Andrea Jester is the clinical lead at the hand and upper limb service at Birmingham Women and Children’s Hospital. She qualified in 1994 and started at the prestigious plastic surgical unit at the BG Trauma Clinic in Ludwigshafen, Germany, training in all aspects of plastic and reconstructive surgery which cemented her desire to work with children. She is instrumental in the effective coordination of the Poland Syndrome Clinics at the hospital. We spoke about her belief that being a surgeon is as much about support and coordination of care as it is about fixing problems and performing surgical procedures. Andrea is passionate about supporting patients throughout their whole life and empowering patients to feel open to communicate with their health specialists to allow them to feel more in control of their own care and health. If you enjoyed this podcast don’t forget to like, rate and subscribe so you never have to miss out!rarelyheard.orgRarely Heard Season two is supported by Cambridge Healthcare Research and Alexion.

Erin is a Canadian author and public speaker, who tested gene positive for Huntington’s Disease (HD) in 2006. Shortly after she started suffering from depression, then received the devastating news that she was infertile. Despite those diagnoses she was determined to have a family and live a joyful life. She is on a mission to positively impact other people’s lives by writing and speaking about genetic disease, depression, and infertility. She shows that it is possible to live a meaningful life even when faced with unexpected obstacles. She is the author of All Good Things: A Memoir About Genetic Testing, Infertility and One Woman’s Relentless Search for Happiness. Erin is also the founder of Lemonade Press, a publisher focused on empowering people by helping them write and share their own journey’s in inspiring anthologies. Erin lives in Toronto wither husband Daniel and her daughter Emma.If you enjoyed this podcast don’t forget to like, rate and subscribe so you never have to miss out!rarelyheard.orgRarely Heard Season two is supported by Cambridge Healthcare Research and Alexion.

Clare Gibbons received a Master of Science degree in Genetic Counselling from Sarah Lawrence College in 1996 and then joined the Genetics Program at North York General Hospital in Toronto where she currently works as the manager of Clinical Genetics. Throughout her career, she has participated in the care of a wide variety of genetics patients and has been a member of the North York General Hospital Huntington Disease Multidisciplinary team for over 20 years. Clare is currently a research coordinator for number of observational trials and clinical trials, including Enroll HD, SHIELD HD, and KINECT HD. She has been an investigator in clinical research studies involving computerized cognitive rehab for people with HD and talking to children about their risk for HD.If you enjoyed this podcast don’t forget to like, rate and subscribe so you never have to miss out!rarelyheard.orgRarely Heard Season two is supported by Cambridge Healthcare Research and Alexion.

Kevin experienced renal failure at age 26 that turned his life upside down overnight. He talks about the experience of diagnosis, subsequent dialysis for two years and receiving a living donor transplant from a close friend. Kevin’s desire to help the rare disease community, led to him becoming involved with the Alport Syndrome Foundation in 2014, taking on a full time role in 2019. If you enjoyed this podcast don’t forget to like, rate and subscribe so you never have to miss out!rarelyheard.orgRarely Heard Season two is supported by Cambridge Healthcare Research and Alexion.

Dr Matt Hall is a consultant kidney physician in Nottingham with an interest in rare and inherited kidney diseases, pregnancy and kidney disease, and clinical trial delivery. He talks about working with patients with rare kidney diseases, his passion for the rare community and how he thinks clinicians and patient groups can build and sustain relationships. If you enjoyed this podcast don’t forget to like, rate and subscribe so you never have to miss out!rarelyheard.orgRarely Heard Season two is supported by Cambridge Healthcare Research and Alexion.

Abdullah is a 24 year old from Berkshire who was born with the rare condition Primary Ciliary Dyskinesia. He talks about his experience of diagnosis and care both in the UK and Pakistan and his subsequent passion about the importance of coordinated care regardless of postcode. He also opens up about what it’s been like for him navigating conversations around genetics, relationships and family planning whilst coming from a South Asian and Muslim background. Abdullah is also the treasurer for PCD support UK supporting those affected by PCD. If you enjoyed this podcast don’t forget to like, rate and subscribe so you never have to miss out!rarelyheard.orgRarely Heard Season two is supported by Cambridge Healthcare Research and Alexion.

Amanda Harris has been working with PCD for the past 14 years. She talks about her role in diagnostics, supporting the patient and family, and the power of building partnerships and taking lessons from the wider rare community. Amanda is passionate about building strong and effective partnerships across the PCD community to ensure that patients receive the best and most coordinated care possible. If you enjoyed this podcast don’t forget to like, rate and subscribe so you never have to miss out!rarelyheard.orgRarely Heard Season two is supported by Cambridge Healthcare Research and Alexion.

Shelley is mother to Noah, a teenager who was diagnosed with an inoperable brain tumour in June 2021. Nicole was diagnosed with NF1 as a toddler and is the inspiration behind the charity, Childhood Tumour Trust. Shelley and Nicole spoke about the challenges of navigating the education system with a chronic illness, how harmful the description ‘benign’ can be to those living with a supposedly benign illness and how NF1 has impacted all of their family relationships. If you enjoyed this podcast don’t forget to like, rate and subscribe so you never have to miss out!rarelyheard.orgRarely Heard Season two is supported by Cambridge Healthcare Research and Alexion.

Stephanie is an accredited psychotherapist working with Rareminds and has been a specialist cancer counsellor in the NHS for over 7 years.In addition to her clinical practice, Stephanie conducts research and provides training and consultancy on the experience of living with rare and chronic conditions. Informed by both a lived and professional experience, she is passionate about raising awareness and improving mental health services for the rare disease community.Stephanie speaks on how caring about mental health is everyone’s responsibility, the importance of support and interventions in the rare community and the simple power of asking ‘so how are you?’If you enjoyed this podcast don’t forget to like, rate and subscribe so you never have to miss out!rarelyheard.orgRarely Heard Season two is supported by Cambridge Healthcare Research and Alexion.

Kostiantyn was forced to leave his home in Kyiv, Ukraine when bombing started on February 24th 2022. He lives with the ultra rare condition Alkaptonuria which can cause significant damage to the bones, cartilage and tissues of those affected.Kostiantyn speaks about his differing experience with the disease from Ukraine to the UK, managing pain alongside his love of sports and ambitious personality and grappling with a new way of life and the label of 'refugee.' If you enjoyed this podcast don’t forget to like, rate and subscribe so you never have to miss out!rarelyheard.orgRarely Heard Season two is supported by Cambridge Healthcare Research and Alexion.

Alkaptonuria or AKU is an ultra rare genetic disease that can cause significant damage to the bones, cartilage and tissues of those affected. At the National Alkaptonuria Centre (NAC) in Liverpool, patients are able to access Nitisinone to treat their AKU but whilst doing so they are advised to follow a protein controlled diet. Clare Soulsby and Helen Bygott work closely at the NAC in Liverpool as the senior dietician and nurse specialist. They talk about the importance of coordinated care in AKU, the value of working closely as clinicians and with patients and the challenges involved with empowering patients to independently control their diet. As well as the impact of being involved in the clinical trials for AKU both for healthcare professionals and those living with the disease. If you enjoyed this podcast don’t forget to like, rate and subscribe so you never have to miss out!rarelyheard.orgRarely Heard Season two is supported by Cambridge Healthcare Research and Alexion.

Please note this episode contains conversation around suicide. Shelley Simmond’s life was forever changed by the birth of her second child Fraser, who was diagnosed with Duchenne muscular dystrophy in February 2014; a rare, genetic, progressive and life-limiting condition. Shelley speaks about how she and her family have found their pathway back to happiness, after their lives fell apart at this unexpected and earth shattering news.Shelley is passionate about accessibility, inclusion, independence and equality for everyone, and is now recognised as a community champion for her advocacy and campaign work for the Duchenne community. She has made it her mission to teach others what Fraser has taught her, and shares their journey through her immensely popular Facebook page ‘Fraser & Friends’.If you enjoyed this podcast don’t forget to like, rate and subscribe so you never have to miss out!Rarely Heard is created in partnership between Beacon and Same But Different. rarelyheard.orgRarely Heard is sponsored by Alexion, illumina, Cambridge Healthcare Research and Takeda and would not be possible without their support.

Geraldine Renton’s world changed forever in 2020, when her son Ethan passed away due to Hunter Syndrome. As chronicled in her award-winning blog, ‘It’s Me & Ethan’, and her debut novel, ‘Ethan & Me’, Geraldine and her family managed the rare disease for eighteen years, with a lot of love, laughter, and communication. She talks candidly about her life with and without Ethan in it, how writing has helped her and finding courage and a path forward in the midst of grief.If you enjoyed this podcast don’t forget to like, rate and subscribe so you never have to miss out!Rarely Heard is created in partnership between Beacon and Same But Different. Read Geraldine’s blog or buy her book hererarelyheard.orgRarely Heard is sponsored by Alexion, illumina, Cambridge Healthcare Research and Takeda and would not be possible without their support.

Dan’s rare journey began with the birth of his daughter, Emily who has multiple rare diagnoses.  Dan is an incredibly proud dad, and brilliant role model for his daughter and she has gone on to win her own awards. As well as caring for Emily, Dan is a disability & mental health campaigner. Over the years Dan has been part of many prominent campaigns and has not been afraid to share his own situation living with mental illness. Dan has become an accomplished and regular broadcaster, championing and discussing the need for absolute equality and more. His motto is: inclusion is not a delusion. If you enjoyed this podcast don’t forget to like, rate and subscribe so you never have to miss out!Rarely Heard is created in partnership between Beacon and Same But Different.rarelyheard.orgRarely Heard is sponsored by Alexion, illumina, Cambridge Healthcare Research and Takeda and would not be possible without their support.

Being diagnosed with Lyme Disease at age 14 meant Morven-May went from being a teenager with boundless energy to spending all her time in bed. She speaks about how this changed her identity, friendships and the path her life was due to take. Morven-May advocates for better awareness, understanding and prevention of Lyme disease and as well as writing her book she also authors blogs and has appeared on TV and radio to advocate for better awareness. Purchase Finding Joy here. If you enjoyed this podcast don’t forget to like, rate and subscribe so you never have to miss out!Rarely Heard is created in partnership between Beacon and Same But Different.rarelyheard.orgRarely Heard is sponsored by Alexion, illumina, Cambridge Healthcare Research and Takeda and would not be possible without their support.

Hannah’s son Alfie was the first person to receive an NHS prescription for medical cannabis. He lives with an incredibly rare form of epilepsy, PCDH19, which saw him turn from a seemingly healthy baby to living his life in and out of hospitals in just a few months; suffering life threatening clusters of seizures. PCDH19 Epilepsy is characterized by treatment-resistant epilepsy that begins in the first year of life with early onset seizures. As well as being a parent carer, Hannah became both a campaigner and an active advocate, and has gone on to win awards for her hard fought medical cannabis campaign. She continues to campaign for fair access to medical cannabis treatments on the NHS for everyone.If you enjoyed this podcast don’t forget to like, rate and subscribe so you never have to miss out!Rarely Heard is created in partnership between Beacon and Same But Different.rarelyheard.orgRarely Heard is sponsored by Alexion, illumina, Cambridge Healthcare Research and Takeda and would not be possible without their support.

Connor talks about what it's like to be a young carer for his partner Simon who is the owner of multiple rare and chronic diseases including hypermobile Ehlers-Danlos Syndrome and Idiopathic intracranial hypertension. He talks openly about what it's like to be both a partner and a carer and how this has impacted his identity and self perception. As well as how difficult it can be to reach out and find support for your mental health, especially as a man.Rarely Heard is a collaborative project created in partnership by Beacon and Same But Different.rarelyheard.orgRarely Heard is sponsored by Alexion, illumina, Cambridge Healthcare Research and Takeda and would not be possible without their support.

Matt’s rare journey began when his young son Charlie was diagnosed with a rare and catastrophic form of epilepsy known as Infantile spasms (West Syndrome). Charlie’s complex needs and disabilities have changed life for Matt and his family. Matt talks honestly about his mental health, and the realities of adapting to a life that is so different from the one you imagined.After 18 months, and with Charlie now suffering over a hundred seizures per day Matt and his wife Ali were told that the NHS could do nothing more to control his seizures. It was at this point that Matt became an active campaigner and advocate for Charlie, adding his voice to the campaign for NHS access to medical cannabis.Rarely Heard is a collaborative project created in partnership by Beacon and Same But Different.rarelyheard.orgRarely Heard is sponsored by Alexion, illumina, Cambridge Healthcare Research and Takeda and would not be possible without their support.

Ashley wears many hats in the Huntington’s disease (HD) community as a carer for her dad, employee at Huntington’s Disease Association Northern Ireland and a blogger who writes about her experiences. Ashley is yet to fully know all the ways in which HD may manifest itself in her life as there remains a 50% chance that she may develop the disease herself in the future. She talks openly about her feelings towards being a carer and potential carrier of HD, the misunderstanding that accompanies the question of genetic testing and the way her perception of and feelings towards HD and life have changed as she has got older. Whatever uncertainty the future holds, Ashley is determined to grab the now by the horns and live her life to the fullest by cherishing the small things and making each day count.Rarely Heard is a collaborative project created in partnership between Beacon and Same but Different. rarelyheard.orgRarely Heard is sponsored by Alexion, illumina, Cambridge Healthcare Research and Takeda and would not be possible without their support.