My rare disease
By Katy Baker
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.
My rare disease May 25, 2023
Koolen-de Vries Syndrome - Becky
Becky has created her own KDVS community which you can find via: Thriving Rare on Instagram and Koolen.mama also on Instagram.
Cystic Fibrosis - Annabelle Whiting
Thyroid cancer - Carly Flumer
Ataxia - Tallulah Clarke
Congenital heart defect - Liam Garay
Periventricular Nodular Heterotopia (X linked) - Georgie Peterson
LIVE episode with Katie Callaghan!
Friedreich's ataxia - Georgia Hart
Aspergillosis - Marie Unsworth
You can read Marie's story here:
Patient organisations that support people with this condition: Aspergillosis.org , aspergillosistrust.org and British Lung Foundation.
Atonic Bowel - Caraldine & Declan Nolan
Osteogenesis Imperfecta - Charlotte Proud
Phenylketonuria (PKU) - Sarah Marshall
You can find a link to Sarah's website here: prosperouspku.com
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!
Scimitar Syndrome - Katy Baker
Occipital Horn Syndrome - David Rose
Mitochondrial myopathy - Adam Johnson (DadVocate)
AFAP & Hereditary Colon Cancer - Dan Dry Dock Shockley
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.
Dyspraxia and Cerebral Palsy - Natalie Williams
Adrenal insufficiency - Sophie-Louise White
Having a sister with a rare disease - Lucy Baker
Mental health - Fiona Shepherd
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
Cholesteatoma - Daisy Marriott
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.