Rare Together LDA Research

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).




(00:00) Podcast Introduction
(01:28) Introducing Milla
(05:11) Introducing Milly
(09:11) How has LCA impacted Milla’s life?
(12:10) Accessing healthcare as a female
(19:08) Power imbalances in healthcare
(22:57) Finally accessing effective care and treatment
(24:20) The role of support networks in Milly and Milla’s journey
(27:38) Gene therapy for LCA
(31:13) Hopes for the future
(34:50) One thing from their rare disease journey

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).


(0:00) Podcast Introduction
(0:50) Introducing Joyce and Jane
(2:01) Managing Shwachman-Diamond Syndrome at school
(3:15) Jane’s experience as a rare disease parent
(5:03) Transition to caring for a teenager
(6:08) Joyce’s journey into teenagehood
(8:05) The prognosis for Shwachman-Diamond Syndrome
(11:08) Growing up with a rare disease
(12:09) Meeting other families and kids with rare diseases
(15:57) How Jane discovered that Joyce has a rare disease
(18:53) Munchausen's Syndrome complex relationship with rare diseases
(20:07) The strain that rare diseases can have on family dynamics
(23:12) Research efforts for Shwachman-Diamond Syndrome
(26:34) How to make the most of life with a rare disease

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).


(0:00) Podcast Introduction
(01:07) Introducing Dawn
(02:47) Introducing David
(04:15) How Dawn’s life has been affected
(06:15) How David’s life has been affected
(07:17) Experiencing an adrenal crisis
(10:30) “Doctors had to look up adrenal insufficiency”
(11:26) Interacting with HCPs who aren’t familiar with rare diseases
(14:36) David’s surgery that resulted in him having a stroke
(15:24) How rare diseases have affected family life
(19:20) Meeting other people with the same rare disease
(21:41) The complexities that come with self-medicating
(23:51) Silver linings uncovered in Dawn & David’s rare disease journey

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).




(0:00) Podcast Introduction
(0:58) Introducing Hannah
(2:17) Early signs of FLNA Deficiency
(3:20) “Sadly then, the doctor didn’t believe in treating it”
(5:12) The process of changing doctors in Germany
(7:07) Collaborating with HCPs to develop treatment plans
(8:31) FLNA Deficiency’s impact on muscle organ deterioration
(11:25) The frustration that comes with re-explaining symptoms
(14:08) Connecting with other people diagnosed with FLNA Deficiency
(16:23) How Hannah manages her condition in her professional life
(19:11) “Being disabled is expensive”
(20:10) FLNA Deficiency’s impact on Hannah and her loved ones
(25:15) Medical research for FLNA Deficiency
(26:01) Hannah’s hope for the future

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/


(0:00) Podcast introduction
(0:34) Introducing Megan
(2:55) Megan’s experience as a first-time mother
(3:52) FOXG1’s impact on sleep
(6:01) Finally getting a diagnosis
(9:04) “Most kids with FOXG1 do have a shorter lifespan”
(10:06) The journey to fundraising and activism
(15:03) How does fundraising work?
(20:35) Megan’s motivation for activism
(22:49) FOXG1’s impact on communication
(27:23) Gene therapy and drug repurposing for FOXG1
(28:26) Launching Rare Parenting Magazine
(35:49) The need for global awareness
(38:38) “Rare diseases are rare, but collectively we are not”
(39:34) Megan’s experience with genetic testing
(45:41) How to get involved with the CRD Fund & Rare Parenting Magazine

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.


(00:00) Podcast introduction
(01:11) Introducing Wendy
(05:48) Introducing Taylor
(12:00) Diagnosis by “pure chance”
(17:38) “I look fine on the outside…but really I’m not”
(22:55) Managing EDS
(25:06) Life on immunosuppressants
(26:57) Effects on family life
(32:08) “Not enough people talk about post-traumatic growth”
(41:10) Rare Disease Girl Substack



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