John lives with inclusion body myositis (IBM), a rare muscle-wasting disease. He shares how his symptoms, such as difficulty climbing stairs and playing guitar, were initially mistaken for aging, and later led to a misdiagnosis of ALS. He describes the emotional impact of living with a rare disease, the challenges of receiving an accurate diagnosis, and the frustration of the limited treatment options available for IBM. Despite these challenges, John remains committed to raising awareness and advocating for research to improve the lives of those affected by IBM and other rare diseases.

The song that John selected is Into the mystic by Van Morrison.

Both Ray's children were born with FSHD (Facioscapulohumeral Muscular Dystrophy), a common yet lesser-known form of muscular dystrophy. He discusses the challenges they face daily, such as muscle weakness and limited mobility. Ray highlights the importance of the patient voice in understanding and treating rare diseases, drawing from his professional experience in the rare disease sector and his role as a father. He also touches on the role of community support and the ongoing need for research to better understand and combat FSHD and other rare diseases.

The song that Ray chose is SPACES, a song written by the Spinal Muscular Atrophy community and sung by James Ian.

Barak has an extremely rare eye condition called ICE (Iridocorneal Endothelial) Syndrome. Because of this condition, he also developed glaucoma in one eye. In this episode, we talk about Corneal transplants, glaucoma and how to care for your eyes, but also about the advancement of technology and AI as a tool for people with partial vision impairment.

Barak selected a full album, Cowboy Carter by Beyonce.

Stiff Person Syndrome (SPS) is a rare condition that leads to painful muscle spasms. Lauren believes she had her first symptoms in early 2010s, although she was only diagnosed 5 years ago. She explains how the condition affects her body and her mobility. She also shares the impact it has had on her mental health and how she manages her energy levels to keep SPS at bay as best as she can.

The song Lauren chose is It was a good day by Ice Cube.

Mandolen Mull suffers from Crohn's Disease and Dystonia. This episode is focused on the latter, which is characterized by muscular spasm and abnormal posture, usually from a neurological origin. In Mandolen's case, it could have resulted in reduced mobility and difficulty to speak, but she was able to recover almost fully by going through various therapies. Her condition is exacerbated by stress, and she constantly has to manage her stress levels to keep control of her body. In this interview, Mandolen shares how she was able to leverage her brain plasticity to recreate functional neural pathways.

The song that Madolen chose is What a wonderful world by Louis Armstrong.

In this 2-part series with Dionne Stalling, we focus on four of the nine conditions that affect her.

In part 2, we talk about short bowel syndrome (SBS) and persistent postural perceptual dizziness (PPPD). Beyond discussing the symptoms and how the conditions affect Dionne, we address some important topics in this episode, such as the continuous fight to increase the breadth of what is covered by newborn screening, the challenges of having a restrictive diet and the under-representation of minorities in clinical trials.

The song that Dionne chose for this episode is Easy by The Commodores.

In this 2-part series with Dionne Stalling, we focus on four of the nine conditions that affect her.

In part 1, we talk about primary immunodefiency and chronic inflammatory demyelating polyneuropathy. In Dionne's case, both conditions are linked and she shares how. Dionne is a single mum that has had to juggle with a lot of doctor's appointments whilst raising her two children. She opens up about the toll living with rare diseases has had on her family. We also talk about patient advocacy and the organization she created, Rare and Black.

The first song Dionne selected is Heaven Knows by Lalah Hathaway.

Rachel's daughter, Charlie, was born with the rare condition GA2 (Glutaric Aciduria type 2). It was identified very early on thanks to newborn screening, but unfortunately it has a very poor prognosis when diagnosed so early. We talk about how GA2 affected Charlie, the importance of communities for parents dealing with such conditions, and the benefits of grief counseling. Rachel also shares the beautiful life lesson Charlie has taught her.

The song Rachel selected is I reach for the sky by Social Distortion.

Danielle's journey with idiopathic pathological ketotic hypoglycemia started with her children's diagnosis, although she had it from a young age herself, but was mis-diagnosed. In this interview, we talk about how this rare disease affects her body. She describes the complexity of raising children with a strict diet, where food intake becomes source of anxiety for parents and child. We also discuss the impact patient advocates have in our world, and her contribution to an initiative by the European Parliament.

The song that Danielle chose is Nothing Else Matters by Metallica.

David had confirmation of his diagnosis of Cowden Syndrome after his mum passed away with the same condition. David talks about isolation after being diagnosed, and the urge he felt to do something for the rare disease community. He now leads a group open to all men with rare disease, focused on mental health. Through this, he provides a platform for men to open up, or listen to others.

The song David chose is Dream Baby Dream by Bruce Springsteen.

Richie has a genetic condition called Wolfram Syndrome. The main symptom is a progressive optic atrophy that results in partial loss of sight in Richie's case. In conjunction with the loss of sight, he developed Charles Bonnet Syndrome, which causes his brain to see images that are not there, also known as hallucinations. Richie shares his journey with both syndromes and the loss of sight that has led him to purchase a white cane shortly before the interview. We talk about his involvement with the Glaucoma community and how important it is for him and others to share about their condition.

The song selected by Richie is The Distance by Cake.

This is the first time Renato speaks openly about his condition. He was born with an extremely rare disease called Haemoglobin Bibba, which only affects two families in the world as far as he is aware. He talks about going through childhood trying to be like everyone else, and living with a condition that is not well understood. We also discuss the impact on his children and why Renato decided to open up about his condition.

The song Renato selected is Sorrento Moon by Tina Arena.