On One Condition

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...

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,...

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 cover...

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 immunodeficiency and chronic inflammatory demyelinating polyneuropathy. In Dionne's case, both conditions are linked and she shares how. Dionne is a single mum who has had to juggle with a lot of doctor's appointments whilst raising her two children. She opens...

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 b...

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 discus...

Crohn's Disease is extremely unpredictable, and very hard to manage. Natalie was diagnosed with it just as her career was about to start. She didn't let it stop her; she decided to follow her dream of becoming a TV anchor no matter what. It wasn't that easy. She recounts episodes of great struggle and how difficult it is to manage the pain linked to Crohn's. Though the disease has shaped who she i...

Gary suffered from Gout for 16 years before getting a diagnosis. The disease affected him so badly that he had to walk with crutches. He shares how he advocated for himself to finally get a diagnosis and the positive impact it had on his life. We also discuss how to prevent Gout flares, through diet and medication.  This episode is very personal for me, as I also suffer from Gout. I share my...

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...

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...

Sabina's dad was the first in her family to be diagnosed with Fabry Disease, which is hereditary. Sabina and her sisters were all diagnosed with it shortly after, but there was little known about it at the time, in the early 80s. We talk about the many symptoms that are related to Fabry, including ones affecting mental health. Sabina also shares about the guilt that people can feel with inherited...

Sara had never heard of Neurofibromatosis (NF) before her son, August, was diagnosed with NF1. She has now become very knowledgeable about this condition, and she raises her voice to increase awareness of this rare disease. Sara shares how NF1 has rocked their world, between hospital appointments, hormonal treatments and trying to turn a rare disease into something to be proud of for August. With...

MJ has had lupus for many years and it sent her to the emergency rooms many times before she got her diagnosis. In this discussion, we get a feel for how she was impacted by the gaslighting within the healthcare system and the lack of support at home. MJ talks about the symptoms of lupus and how the auto-immune disease affects her body. We also discuss patient advocacy and how meaningful it is for...

We talk about Clinical Trials a lot in this episode. Cathy is passionate about getting patients involved in the design of trial protocols, as well as advancing research in Parkinson's Disease. She shares her frustration with the lack of advancement in stopping the disease progression, considering Levodopa is still the treatment of choice more than 60 years after its first use in Parkinson's patien...

My wife, Joanna, has been perimenopausal for several years. In this interview, we talk about the effect it had on her mental health and her body, and how she knew it was perimenopause. She shares her decision process when she was offered to take HRT (hormone replacement therapy), despite the stigma and risks that are related to it. We also talk about lifestyle changes that can help with perimenopa...

Mark raises critical questions about prevention in this interview, as Type 2 Diabetes can be prevented. He talks about his relationship with food and the changes he has made to his diet since his diagnosis. We discuss how the healthcare system addresses Type 2, focusing on the symptoms rather than the root cause of those symptoms. Mark shares his recommendations on lifestyle changes that can help...

Bianca is the mother of Lotta, who was born with Rett Syndrome. In this discussion, Bianca shares about her daughter's diagnosis, the lack of support when they received this life-changing information, and how they have adapted to it. We discuss the level of care Lotta requires and the impact on the family life. Bianca also shares the many emotions she has felt over the years, as she went through t...

Ataxia is a group of disorders that affect the muscles, impacting co-ordination, balance and speech. Kristy saw it affect her family before being diagnosed herself. It was hard for her to accept the diagnosis and she explains that she withdrew from society for many years, until she finally thought to herself: "no surrender". She talks about what she does now to raise awareness about ataxia and to...

Brooke was 29 when she had the first symptoms of Amyotrophic Lateral Sclerosis, commonly known as ALS. She talks about how the confirmation of her diagnosis impacted her mentally, and how she finally decided to embrace her condition and become a patient advocate. Brooke's condition does not progress as fast as it typically does, although she is fully aware that it keeps progressing. She has a posi...

Alex is Niko's dad, a 7-year old boy living with Cornelia de Lange Syndrome. In this first interview of a parent on the podcast, we talk about the worry as a parent when the fetus does not develop as expected. Alex shares about Niko's development after birth, the impact of the condition on Niko's body and the level of care they give him to make sure he grows as healthily as possible. We also discu...

Hawken Miller lives with Duchenne Muscular Dystrophy. He has been a patient advocate for several years, raising awareness alongside the organization his parents founded, CureDuchenne. In this interview, Hawken talks about the impact of Duchenne on his body, how he still managed to take part in activities as he was growing up, and his hopes for future treatments to reduce the condition's progress....

Occipital Horn Syndrome is an extremely rare disease. David Rose is only aware of a few people living with this condition. It took him many years to be diagnosed accurately, although he had been told early on that his condition was similar to Ehlers Danlos Syndrome (EDS)*. In our discussion, David shares tips about how to look after your mental health and how to stay active when you have a rare di...

Levi suffers from Idiopathic Intracranial Hypertension (IIH), Behcet's Disease and Parkinson's Disease. In this interview, she shares about the multiple brain surgeries she has had to address her IIH and how it led to developing Parkinson's Disease. We also talked about the complexity of getting a diagnosis for Behcet's Disease, and how having three conditions impacts her ability to get a treatmen...

Narcolepsy is one of those conditions that people know about, mostly because media have emphasized the extreme cases where people fall asleep in the middle of a conversation. In this interview, Liz Ferguson explains that Narcolepsy is a scale that affects people differently. She shares about having cataplectic attacks that led her to her diagnosis. We also talk about how she has adapted to the con...

For this interview, Emily was lying down in bed, in a room barely lit. It was important that she found a comfortable position, which would mean she wouldn't feel the need to move. We talk about how ADHD affects her and how she manages her work around it. We also discuss depression and how difficult it was to be diagnosed accurately. Emily shares about not being medicated anymore and why she found...