My rare disease

By Katy Baker

Welcome to 'My rare disease' podcast. This is a platform where I raise awareness of something that affects 1 in 15 people, rare disease. By chatting to patients, health professionals and advocates, we talk about all aspects of rare disease including relationships, mental health and much more. I cannot wait for you to hear some truly inspiring stories from some absolutely amazing people.
From being diagnosed with a rare disease myself at 10 weeks old, it has given me the motivation to give others in the rare disease community an opportunity to share their thoughts and experiences.

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Congenital heart defect - Liam Garay

My rare disease Oct 22, 2021

00:00

49:51

Koolen-de Vries Syndrome - Becky

In this episode, Becky tells us about the rare condition that she has along with 2 of her children, Koolen-de Vries Syndrome which was only founded in 2006! Becky opens up about how the condition can present in different people and how it can affect people day-to-day. We then talk about mental health and statistics published by Rare Disease UK. Becky tells us about her own mental health experiences and how for her, being different is empowering.
Becky has created her own KDVS community which you can find via: Thriving Rare on Instagram and Koolen.mama also on Instagram.

May 25, 202356:31

Aug 11, 202149:54

LIVE episode with Katie Callaghan!

We recorded this live from the Stereo app! In this episode you can listen to some more of the day-to-day challenges people with chronic illness and rare disease can face such as challenges in employment, University, telling new people about your illness and more.

Jun 29, 202142:02

Friedreich's ataxia - Georgia Hart

In this episode Georgia shares her experience with Friedreich's Ataxia which is a genetic rare disease affecting approximately 1 in 50,000 people. Georgia talks about role models in the media and why there needs to be more disability respresentation in the media as well as how this interest has motivated Georgia to be an advocate. We also discuss Georgia's time at University and some tip tops for people with illness who are wanting to study.

Jun 19, 202128:22

Aspergillosis - Marie Unsworth

In this episode, I talk to Marie about her experiences with Aspergillosis and the appointments and tests she went through until she eventually got a diagnosis. We discuss that the average time it takes to get a rare disease diagnosis is 7-8 years and the impact that has had on Marie's wellbeing as well as learning your limits and the support that Aspergillosis organisations provide.

You can read Marie's story here:
www.blf.org.uk/your-stories/my-shocking-diagnosis-of-aspergillosis
Patient organisations that support people with this condition: Aspergillosis.org , aspergillosistrust.org and British Lung Foundation.

May 22, 202140:59

Atonic Bowel - Caraldine & Declan Nolan

In this episode, I am joined by mother and son Caraldine and Declan who share their experiences with the condition, Atonic Bowel. We discuss their stories separately and are really honest about the challenges but also advantages complex illness can bring such as gratitude, resilience and strength. Declan gives some wonderful information about what he would like people without the condition to know but also advice for people going through the same or similar situation as him. Caraldine gives an insight about how illness affects the whole family, the importance of self-esteem and friendship during difficult times and her brilliant idea about launching care boxes for those in hospital.

May 15, 202157:47

Osteogenesis Imperfecta - Charlotte Proud

In this episode, Charlotte shares her experiences with Osteogenesis Imperfecta and we discuss her love for sport, the challenges that school sport brought, memorable moments with her rare disease as well as being both a patient and professional within the NHS.

May 09, 202127:17

Phenylketonuria (PKU) - Sarah Marshall

In this episode, I talk to Sarah about her rare disease PKU, a condition that affects approximately 1 in 15,000 people in the USA. We discussed the psychological impact a rare disease can have, what it means by owning your rare disease as well as the importance in rare disease research and the brilliant advocacy work Sarah has been involved in.

You can find a link to Sarah's website here: prosperouspku.com

May 01, 202127:41

LIVE episode with Katy Baker & Katie Callaghan

We tried our first LIVE chat on the Stereo app! We touched on some different examples of transitions that can occur throughout someone's life, not just through healthcare. We talked about the importance of a smooth transition, shared our own experiences and answered some questions!

Mar 09, 202159:25

Scimitar Syndrome - Katy Baker

In this episode, I go from the interviewer to interviewee! With thanks to Matt, I have the opportunity to talk about my rare disease Scimitar Syndrome. We discussed how much more there is to rare disease, how much it can affect different areas of your life such as your mental health and why a smooth hospital transition is so important. I really enjoyed talking about motivation towards being an advocate and why creating this podcast is so important to me. Thank you so much to everyone who has listened to me podcast so far, I am so grateful and so happy that people are learning about rare disease.

Feb 28, 202154:02

Occipital Horn Syndrome - David Rose

In this episode we learn about David's rare disease Occipital Horn Syndrome as well as some of the day-to-day challenges people with rare disease can encounter including finding affordable travel insurance, additional barriers within the education system and visiting new hospitals where you are having to teach professionals about your rare disease. We discuss how awareness in all of these areas is really important but also how David's rare disease has steered him to now work in the rare disease sector.

Feb 10, 202147:07

Mitochondrial myopathy - Adam Johnson (DadVocate)

In this episode, we discuss Adam's rare disease which affects approximately 1 in 4,000 people and his diagnosis journey. We chat about how difficult it has been to tell Adam's family and young children about his rare disease and how illness really does impact the whole family in different ways however Adam and his daughter have used this to fuel their passion for advocacy and this is what formed 'Dadvocate!'

Jan 25, 202135:40

AFAP & Hereditary Colon Cancer - Dan Dry Dock Shockley

In this episode, Dan talks about his experience with the ultra rare disease AFAP (Attenuated Familial Adenomatous Polyposis) only found through a routine test, how it’s had a life-changing effect on his life as well as the effect it has had on his family, his positive outlook on life and the motivation to be an advocate in the rare disease community.

Jan 19, 202140:32

Ehlers-Danlos syndrome & Chronic intestinal pseudo-obstruction - Katie Callaghan

This episode features Katie who has EDS and CIPO and we discuss what it means to have a good transition in hospital, the barriers a wheelchair user faced in both education and society and how she's used her experiences to create her wonderful organisation Cards For Bravery which provides cards to people in hospital to brighten their day.

Dec 20, 202031:29

Dyspraxia and Cerebral Palsy - Natalie Williams

This episode features Natalie who talks about a less well-known disability, dyspraxia. We discussed the barriers Natalie has faced but also what being an advocate means to her and how she was recruited in to being a Global Brand Leader for the charity Invisiyouth.

Dec 19, 202027:24

Adrenal insufficiency - Sophie-Louise White

In this episode, I talk to Sophie who has Secondary Adrenal Insufficiency. As well as telling me all about her rare disease, her different experiences in the healthcare world and some topics with stigma attached, Sophie shares how her condition has motivated her to have a different outlook on life, direct a short documentary, hold down a job and study masters degree. https://t.co/ze91VnvjfM & https://t.co/tg7GTrUTDi

Nov 20, 202050:45

Having a sister with a rare disease - Lucy Baker

This episode features a very special guest, my sister! Lucy is 22 years old, she’s a trainee Lawyer and we love spending time together when we can. In this episode, Lucy and I speak openly about what she thinks about my rare disease, Scimitar Syndrome, what it's like having a sister with an illness there is so little information on and some of the memorable experiences that stand out for her. It has been really interesting listening to how a rare disease can affect the whole family, not just the person with the condition and how Scimitar Syndrome has had an impact on her life.

Nov 14, 202035:47

Mental health - Fiona Shepherd

This episode is all about one of my friends from Uni Fiona and her mental health. Throughout Uni, Fiona went through multiple hospital admissions for her physical health and this led to a stay at an inpatient mental health hospital. In this episode, we are talking about Fiona's experiences in hospital, discussing the stigma that comes with mental health and advice Fiona would give to people struggling.
Below are numbers and support you can access if you need to reach out, please talk to someone if you are struggling, your feelings are valid and you are so loved.
Samaritans: 116 123 (available 24/7)
MINDinfoline: 0300 123 3393
The Mix: www.themix.org.uk (online chat)
Crisis text line: text 'shout' to 85258

Oct 12, 202029:32

Cholesteatoma - Daisy Marriott

In this episode I chat to Daisy who has Cholesteatoma, a condition which mainly affects her hearing but has caused anxiety, low mood and years of being misdiagnosed. In this episode we discuss being a young person with rare disease and having to miss out on what a 'normal' young person can sometimes take for granted, how much rare disease can affect your mental health and the lack of support in this area when being diagnosed with a life-changing condition but also how Daisy's rare disease has given her the motivation to work in the rare disease sector and give other young people a platform to feel empowered and share their inspiring stories.

Oct 05, 202034:39

Occupational Therapy - Chloe Holmes

In this episode I talk to Chloe who studied Occupational Therapy at the University of Northampton and is now working as a paediatric OT supporting children with a range of additional needs. Occupational Therapists are important in helping people of all ages for different reasons e.g ageing, mental ill-health and physical disabilities and in this episode, we touch on one experience Chloe had with a child with Rett syndrome.

Sep 30, 202018:47