Welcome to Living with Alström: Stories, Challenges and Hope.

In this introduction, I explain why I created this podcast and share my personal connection to Alström Syndrome as someone living with the condition myself.

Across the series, I explore what it means to live with Alström Syndrome through conversations with people from different parts of the community, including patients, families, healthcare professionals, researchers and those involved in support and awareness.

The series looks beyond the medical diagnosis to explore lived experience, family life, support, research, community, awareness and hope for the future.

This introduction sets the scene for the journey ahead and explains why raising awareness of Alström Syndrome matters to me personally.

Learn more about Alström Syndrome UK:
Alström Syndrome UK

Music:
Music by Scott Buckley: released under CC BY 4.0 www.scottbuckley.com.au

Disclaimer:
The views and experiences shared by guests are their own and are intended for awareness and educational purposes. This podcast is not a substitute for professional medical advice. If you have concerns about your health, please contact your healthcare professional.

What is Alström syndrome, how can it be diagnosed and what can specialist care look like for those living with this ultra rare condition?

In this episode, I talk to Dr Tim Barrett who is one of the UK’s top clinicians dealing with cases of Alström syndrome. Using his clinical expertise, Dr. Barrett gives us insight into what Alström syndrome is and how it affects various individuals.

We talk about diagnosis and the importance of getting a proper diagnosis as well as why specialist care is essential for those living with this disease.

Our conversation also touches upon the importance of early intervention and continuous medical support. In addition, we consider the significance of early detection of any possible medical issues which will allow the clinicians to give appropriate treatment to the patient as their needs change.

Dr. Barrett also talks about his point of view on the current status of research of Alström syndrome and the importance of its further development as it is quite rare genetic disorder. We talk about how research and clinical knowledge of Alström syndrome can interact and bring some benefits both to patients and clinicians.

In addition, within the course of our episode, we answer questions from the Alström syndrome community which were sent to us beforehand. The questions concern genetics, mental health, and future treatment options.

We also discuss the advice Dr. Barrett would give to families who have recently received an Alström syndrome diagnosis, including the importance of seeking specialist support, asking questions and understanding that families do not have to navigate the journey alone.

This episode provides a clinical foundation for the rest of the series while also highlighting the importance of listening to the experiences and concerns of people living with Alström syndrome.

Learn more about Alström Syndrome UK: https://www.alstrom.org.uk/

Disclaimer

The views and experiences shared by guests are their own and are intended for awareness and educational purposes. This podcast is not a substitute for professional medical advice. If you have concerns about your health, please consult a qualified healthcare professional.

Music

Music by Scott Buckley released under CC BY 4.0 www.scottbuckley.com.au

What will be the future of research into Alström syndrome, and would knowing more about this condition change the future of treatments for it?

In this episode, I have the pleasure of speaking with Laylaa Islam, who is a PhD researcher working on Alström syndrome at a cellular level.

Laylaa talks about the role of ALMS1 gene and how understanding the effect of changes in this gene on cells is critical in Alström syndrome research. In addition, we discuss the methods of studying this rare condition and how lab research can give us insight into the processes that happen in the body.

There is also a discussion on the relationship between the scientific study and experiences of individuals suffering from Alström syndrome. Although scientific studies usually happen in the laboratory using complicated scientific procedures, the goal is to enhance the understanding of the disease so as to be able to use that information in the future for helping people suffering from this disease.

Laylaa presents her view as a researcher about what makes the Alström syndrome significant from the point of view of scientific studies. We discuss the difficulties of conducting a scientific research on an ultra-rare disease.

Together, we consider how today's research could contribute to tomorrow's possibilities and why continued scientific investigation can provide hope for the Alström community.

This episode offers an accessible introduction to the research taking place around Alström syndrome while highlighting the people behind the science and the importance of continuing to learn more about the condition.

Learn more about Alström Syndrome UK: https://www.alstrom.org.uk/

Disclaimer

The views and experiences shared by guests are their own and are intended for awareness and educational purposes. This podcast is not a substitute for professional medical advice. If you have concerns about your health, please consult a qualified healthcare professional.

Music

Music by Scott Buckley released under CC BY 4.0 www.scottbuckley.com.au