Welcome to Episode 6 of Rare Together. This week, we are sharing Milla and Milly’s stories. Milla, from Sweden, will talk about her experience with Leber’s Congenital Amaurosis (LCA), which she was diagnosed with in 2002. Milla has also been diagnosed with Autism and Attention-Deficit/Hyperactivity Disorder (ADHD). She is joined by Milly, from the UK, who talks to us about her experiences with Sporadic Hemiplegic Migraines, Lipoedema, Postural Tachycardia Syndrome (POTS), Ice Pick Headaches, and Visual Snow Syndrome.
Join us for an insightful conversation with our guests. We will discuss the complexities that can arise when someone is neurodivergent and diagnosed with a rare disease. Additionally, we will explore the challenges females face in accessing treatment for rare diseases, their hopes for the future and many other related topics.
Please note that this conversation discusses themes of sexual harassment in a medical setting.
Andrew Grant returns as host and facilitates this conversation; Andrew is a highly experienced medical research consultant with LDA Research, an international medical market research organisation working in the pharmaceutical industry and medical device sectors.
We’ve also created a growing and supportive community of people from across the globe affected by rare diseases. If you or someone you care for is affected by a rare disease diagnosis, you can join the conversation online by joining our private Facebook group, the Rare Disease Network (https://www.facebook.com/groups/rarediseasenetwork).
Welcome to Episode 5 of Rare Together. In this week’s episode, we are joined by 15-year-old Joyce and her mother, Jane, from New Jersey. Joyce was born with a rare genetic condition called Shwachman-Diamond Syndrome, which was diagnosed when she was aged 2.
Shwachman Diamond Syndrome affects her digestive system, blood/bone marrow, skeletal systems, and immune condition. There is currently no known cure, and the average life expectancy for Shwachman-Diamond Syndrome is around 35, but thankfully, there are documented cases of individuals surpassing this.
Join us in this insightful conversation as we hear how Joyce manages her condition at school, living life to the fullest with her condition, and Jane’s perspective as a rare disease parent, among many other topics.
Andrew Grant returns as host and facilitates this incredible conversation; Andrew is a highly experienced medical research consultant with LDA Research, an international medical market research organisation working in the pharmaceutical industry and medical device sectors.
We’ve also created a growing and supportive community of people from across the globe affected by rare diseases. If you or someone you care for is affected by a rare disease diagnosis, you can join the conversation online by joining our private Facebook group, the Rare Disease Network (https://www.facebook.com/groups/rarediseasenetwork).
Welcome to Episode 4 of Rare Together. In this episode, we have the honour of bringing Dawn and David's story to you. Dawn, who is from Alberta, Canada, talks to us about her rare diseases - Hypogammaglobulinemia, Hemiplegic Migraines, and Pituitary Adenoma, which has resulted in secondary adrenal insufficiency. Joining her is David from Los Angeles, USA, who shares his experiences with Acromegaly, Diabetes Insipidus, adrenal insufficiency, and the stroke he suffered as a result of a surgery he underwent.
Join us for another insightful conversation as we delve into how their rare conditions have affected their daily life. We discuss the adjustments they’ve had to make due to their conditions, the complexities associated with adrenal insufficiency, and the ripple effect their diagnosis has had on loved ones, among many other related topics.
Andrew Grant returns as host and facilitates this incredible conversation; Andrew is a highly experienced medical research consultant with LDA Research, an international medical market research organisation working in the pharmaceutical industry and medical device sectors.
We’ve also created a growing and supportive community of people from across the globe affected by rare diseases. If you or someone you care for is affected by a rare disease diagnosis, you can join the conversation online by joining our private Facebook group, the Rare Disease Network (https://www.facebook.com/groups/rarediseasenetwork).
Welcome to Episode 3 of Rare Together. In this week’s episode, Hannah from Mülheim An Der Ruh in Germany joins us. In 2022, Hannah was diagnosed with FLNA Deficiency, a rare genetic disease that affects her organs, muscles, joints and mobility.
FLNA deficiency refers to mutations in the FLNA gene, which is responsible for producing the protein filamin A. Filamin A plays a crucial role in maintaining the structure and function of cells, particularly in the development of connective tissues and the central nervous system.
Join us in this insightful conversation as we hear how Hannah manages her symptoms on a daily basis, what it’s like to have your mobility limited at such a young age, her experiences with misdiagnosis and having to re-explain her medical history to every healthcare professional she meets. We also delve into her passion for computers and learn more about how Hannah is not letting her diagnosis hold her back from undertaking an apprenticeship in computer science.
Andrew Grant returns as host and facilitates this incredible conversation; Andrew is a highly experienced medical research consultant with LDA Research, an international medical market research organisation working in the pharmaceutical industry and medical device sectors.
We’ve also created a growing and supportive community of people from across the globe affected by rare diseases. If you or someone you care for is affected by a rare disease diagnosis, you can join the conversation online by joining our private Facebook group, the Rare Disease Network (https://www.facebook.com/groups/rarediseasenetwork).
Welcome to Episode 2 of Rare Together. This episode follows a slightly different format because we are joined by one guest this week, Megan from New York, USA. Megan is a mother to her son, who has been diagnosed with FOXG1 syndrome.FOXG1 syndrome is a rare genetic neurodevelopmental disorder caused by a mutation in the FOXG1 gene. This gene is essential for early brain development and, when impaired, causes cognitive and physical disabilities.Join us for a conversation with Megan as she shares her journey into rare disease activism, her experience as a parent to a child with FOXG1 syndrome, and her drive to help other parents like her. We will also discuss Rare Parenting Magazine and The Rare Disease Children's Fund, which Megan and her husband started to raise awareness for FOXG1 and provide support and resources for parents of children with rare diseases. Andrew Grant returns as host and facilitates this incredible conversation; Andrew is a highly experienced medical research consultant with LDA Research, an international medical market research organisation working in the pharmaceutical industry and medical device sectors.We’ve also created a growing and supportive community of people from across the globe affected by rare diseases. If you or someone you care for is affected by a rare disease diagnosis, you can join the conversation online by joining our private Facebook group, the Rare Disease Network (https://www.facebook.com/groups/rarediseasenetwork).Learn more about the Children’s Rare Disease Fund: https://www.thecrdfund.org/ Read Rare Parenting magazine here: https://rareparenting.com/
In this episode of Rare Together, we’re joined by two people affected by rare diseases on opposite sides of the globe: Wendy, from Anglesey, Wales, is living with multiple conditions, including EDS, POTS and Psoriatic Arthritis, and Taylor, who you may also know from her Substack ‘Rare Disease Girl’, living in Santa Monica, who is living with Atypical HUS.
Join us in this insightful conversation as we hear how their different rare conditions affect their daily life. We discuss how big a role ‘luck’ played in both women receiving their diagnosis, how exercise and being proactive are transformative for them in living with their rare conditions and how they manage their differing conditions.
Wendy and Taylor also discuss the importance of mental health care for people affected by rare diseases, and we learn the importance of retaining a positive outlook.
Please note that this conversation contains themes of traumatic childbirth experiences.
Andrew Grant returns as host and facilitates this incredible conversation; Andrew is a highly experienced medical research consultant with LDA Research, an international medical market research organisation working in the pharmaceutical industry and medical device sectors.
If you or someone you care for is affected by a rare disease diagnosis, you can join the conversation online by becoming a member of our private Facebook group, Rare Disease Network we’ve created a growing and supportive community of people from across the globe affected by rare diseases.
You can subscribe to Taylor’s Substack, Rare Disease Girl, here: https://taylorcoffman.substack.com/
You can follow Taylor on Tiktok here:
https://www.tiktok.com/@taylorcoffmanmade
Audio: Spirit Blossom by Roman Belov
Rare Together, the exclusive podcast series brought to you by LDA Research, is back for Season 2! 🎉
Discover thought-provoking insights and inspiring stories from individuals worldwide impacted by rare diseases. Gain a deeper understanding of their journeys and the challenges they face, and join us to explore these compelling narratives firsthand.
New episodes will be released every Thursday on YouTube, Spotify and Apple Podcasts. If you haven’t done so already, make sure to follow and turn on post notifications so that you don’t miss an episode! 🎧
Listen to Rare Together on:
In this episode of Rare Together, we’re joined by two people affected by multiple rare diseases. Millie from Bel Air, US, and Liz in Cardiff, South Wales. Liz has recently been diagnosed with a rare form of Scleroderma which has led to two further rare diseases, and Millie is living with Scoliosis, Spastic Quadriparesis, and Dysautonomia.
Join us in this really engaging conversation as we learn about the pressures of living with multiple rare diagnoses, from the complications of misdiagnosis to managing the myriad of healthcare professionals and medications, right through to the vital support from friends and family. Liz and Millie also offer some great insights into how they’ve adapted their mindset to approach life with multiple rare diagnoses, including what they do to stay positive and the adaptations to their everyday life that make things a little bit easier.
Our host today as always is the wonderful Andrew Grant. Andrew is an experienced medical research consultant with LDA Research, an international medical market research organisation working in the pharmaceutical industry and medical device sectors.
If you would like to share your story and help raise awareness of a rare condition you’re affected by, please apply to be part of the podcast here. Alternatively, join the conversation online by becoming a member of our private Facebook group, Rare Disease Network, where we’ve created a community of people from across the globe affected by rare diseases.
Introducing Liz - 01:32
Introducing Millie - 04:35
Are conditions linked? - 08:29
Misdiagnosis - 10:16
Living on multiple medications - 12:42
A community of HCPs - 17:54
The effect on family and friends - 24:36
“What’s going to be next?” - 29:46
Staying positive - 33:12
Audio: Spirit Blossom by Roman Belov
In this episode of Rare Together, we’re joined by two people affected by rare diseases in the UK; Bobbie, from Northumberland, who has been living with lymphedema since 1985 and Joanna in Kent, who is living with Dercums Disease.
Join us in this insightful conversation as we hear how these two wonderful ladies’ lives have been affected by their rare disorders. From educating healthcare professionals to the impacts on family life and their hopes for the future, you’ll learn a lot about rare diseases that cause painful swelling and growths, the stigma attached to lymphomas and the tips and tricks they use to adapt to life with their rare condition.
Our host today as always is the wonderful Andrew Grant. Andrew is an experienced medical research consultant with LDA Research, an international medical market research organisation working in the pharmaceutical industry and medical device sector.
If you would like to share your story and help raise awareness of a rare condition you’re affected by, please apply to be part of the podcast here. Alternatively, join the conversation online by becoming a member of our private Facebook group, Rare Disease Network, where we’ve created a community of people from across the globe affected by rare diseases.
Introducing Bobbie - 01:27
Introducing Joanna - 03:22
Living with Lymphedema - 05:45
Living with Dercums Disease - 08:58
“I have been told by so many doctors fat doesn’t hurt… it does.” - 09:25
Orange peel skin - 12:24
The importance of leg stockings for swelling - 13:43
Getting lymphomas removed - 15:29
“Even some of the specialist’s I’ve seen… they don’t know what it is!” - 19:15
Manual massage - 27:24
Adapting to a life on medication - 31:09
Effects on family life - 34:57
Hopes for the future - 41:18
One thing we’d like you to know about our conditions… - 48:58
Audio: Spirit Blossom by Roman Belov
In this episode of Rare Together, we’re joined by two people affected by rare hormonal disorders; Libby, from Belfast in Northern Ireland, who has been living with Addisons Disease for the last decade and Jonathan from Long Island in the United States, who has been diagnosed with Acromegaly.
Join us in this emotional chat as we hear how Libby and Jonathan’s lives have been changed dramatically as a result of the symptoms of their rare conditions. We delve into what it’s like to live with real fatigue and we understand more about brain fog; what is it, and how does it impact day to day life? We also chat about home and family life, and the huge changes life with a rare condition can lead to.
Our host today as always is the wonderful Andrew Grant. Andrew is an experienced medical research consultant with LDA Research, an international medical market research organisation working in the pharmaceutical industry and medical device sector.
If you would like to share your story and help raise awareness of a rare condition you’re affected by, please apply to be part of the podcast here. Alternatively, join the conversation online by becoming a member of our private Facebook group, Rare Disease Network, where we’ve created a community of people from across the globe affected by rare diseases.
Introducing Libby - 01:07
Introducing Jonathan - 02:38
The importance of support groups - 04:23
The (long) journey to diagnosis - 07:03
What is fatigue? - 10:19
Brain Fog - 15:42
The effets of rare conditions on your home and family life - 27:35
Research into rare disease - 32:26
Tips, tricks and hacks for living with a rare condition - 37:16
A positive that’s come from our rare conditions is… - 41:42
You can find out more about the Acromegaly Community here.
You can find out more about the Living With Addisons Disease support group here.
You can find the Addisons Awareness Group on Facebook here.
You can find out more about the Medisafe app, here.
You can find out more about the Guava app, here.
You can find the Acromegalay Mens Only Group here.
You can find the Addisons Warriors on Facebook here.
Audio: Spirit Blossom by Roman Belov
In this episode of Rare Together, we’re joined by two people who are caring for loved ones with rare conditions so that we can learn more about the impact a rare disease diagnosis has on those around us. We have Candace from Fairview in Texas, US, whose 11-year-old daughter has recently been diagnosed with having the Cask gene mutation, and Anna Mae from Henley on Thames in the UK, whose 4-year-old daughter is one of only 20 people globally to have a CMT 2Z diagnosis.
Join us in this really insightful chat as we hear how two parents in different countries face so many similar challenges; from the diagnosis odyssey to balancing their other children’s childhood alongside watching them become a sibling carer, to the lifeline that is support groups, be that online or in the form of friends and family. We’ll hear more about how Anna Mae and her family are championing for increased awareness of her daughter's extremely rare condition, and we’ll also learn that about the epic amounts of joy in the everyday that both Mums experience as their children grow up.
Our host today as always is the wonderful Andrew Grant. Andrew is an experienced medical research consultant with LDA Research, an international medical market research organisation working in the pharmaceutical industry and medical device sector.
If you would like to share your story and help raise awareness of a rare condition you’re affected by, please apply to be part of the podcast here. Alternatively, join the conversation online by becoming a member of our private Facebook group, Rare Disease Network, where we’ve created a community of people from across the globe affected by rare diseases.
Audio: Spirit Blossom by Roman Belov
In this episode of Rare Together, we’re joined by two people affected by rare diseases: Jan, living with Burning Mouth Syndrome in Iowa in the USA, and Amanda living with Relapsing Polychondritis, a rare autoimmune condition, in Okehampton, in the United Kingdom.
Join us in this insightful conversation as we learn more about their rare conditions and how their day-to-day lives have been impacted since their symptoms appeared. We delve into the importance of support; from online communities to direct care from friends and family, and, we chat in detail about the wider repercussions rare conditions can have relationships, socialisation and family dynamics.
Our host today as always in the wonderful Andrew Grant. Andrew is an experienced medical research consultant with LDA Research, an international medical market research organisation working the pharmaceutical industry and medical device sector.
If you would like to share your story and help raise awareness of a rare condition you’re affected by, please apply to be part of the podcast here. Alternatively, join the conversation online by becoming a member of our private Facebook group, Rare Disease Network, where we’ve created a community of people from across the globe affected by rare diseases.
Useful links:
You can check out Singing for Wellness here.
Audio: Spirit Blossom by Roman Belov
In this episode of Rare Together, we’re joined by two people affected by rare diseases on opposite sides of the globe: Jeannie, from Ontario Canada is living with one of the rarest, and newest, forms of Thyroid Cancer, and David, living in Sydney Australia, who is living with Stiff Person Syndrome.
Join us in this insightful conversation as we hear how their different rare conditions affect their daily life. We chat about their shared experiences with medical professionals who couldn’t help them, the challenges of getting their families to understand what they’re going through, their difficult journeys to diagnosis and how they’re both helping shape the future of medicine and medical research in their own ways.
Our host today as always is the wonderful Andrew Grant. Andrew is an experienced medical research consultant with LDA Research, an international medical market research organisation working in the pharmaceutical industry and medical device sector.
If you would like to share your story and help raise awareness of a rare condition you’re affected by, please apply to be part of the podcast here. Alternatively, join the conversation online by becoming a member of our private Facebook group, Rare Disease Network, where we’ve created a community of people from across the globe affected by rare diseases.
Audio: Spirit Blossom by Roman Belov
Welcome to Rare Together, the podcast series produced by LDA Research. Join us as we bring together individuals living with rare diseases to share their personal stories and experiences in a series of one-to-one conversations.
