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

Living with a rare disease often affects more than physical well-being and this is certainly the case for people living with Alström syndrome. The support that they get can play a critical role in dealing with the various aspects of diagnosis, living with the condition, and managing the different issues they face during their lives.

In this episode, we talk to Sarah Oliver and Clair from Alström Syndrome UK, both of whom have been involved in providing support for families and individuals living with Alström syndrome in the UK.

They will talk about how does the support work from the early stage of diagnosis, and how do the needs of families differ based on whether the family members are children, teenagers, or adults.

Another focus of the conversation is the need to listen to families and offer appropriate support based on individual requirements. Since Alström syndrome affects individuals differently, there are various personal experiences of coping with the syndrome, and families may have different needs in terms of support depending on their life stage.

We will talk about the work of Alström Syndrome UK to make families feel involved and supported, offering them advice and providing opportunities for meeting other people with Alström syndrome.

Sarah and Clair share their experience in building relationships with affected families and explain how community can help people suffering from an ultra-rare condition. From daily life problems to getting a diagnosis, their work illustrates how support can affect families positively.

This episode offers an insight into the people working behind the scenes to support the Alström community and explores why understanding, communication and connection are so important for families living with a rare disease.

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

In this episode, Kerry Leeson-Beevers gives us insight into her view on Alström syndrome from two very interlinked angles; that of being the mother of a boy who has Alström syndrome and being the Chief Executive of Alström Syndrome UK.

Kerry looks back at the journey of having received an Alström syndrome diagnosis and talks about the experience that she has been through. She discusses the challenges, uncertainties and emotions that can come with being in a family of someone who has a rare disease.

I will talk about Kerry's involvement in Alström Syndrome UK and what it is like to be the leader of such a charity. We will talk about the importance of advocating, supporting, making people aware of the condition and providing information.

Kerry also looks at some of the problems that the charity and the larger Alström community have to deal with, such as spreading knowledge about an illness that many people will probably never hear about, taking care of people from different stages of their lives, and still being able to promote research.

The interview talks about the problems of having one's personal story and one's professional story, and how the personal experience with Alström Syndrome has affected Kerry's ideas about the future of the organisation and the community.

In addition to the difficulties that exist, Kerry also speaks about the hope and about the things that she wants to see in the future. We look at the problem of listening to the voices of the patients and their families, building links within the community and avoiding defining the people with Alström only because of their condition.

This episode offers a personal and professional perspective on the Alström community, highlighting the experiences of a mother, the responsibilities of a charity leader and the importance of continuing to work towards a more informed, connected and supportive future.

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

In this episode, Haris Hamid shares with us his personal journey of living with Alström Syndrome and the experiences he has had along the way.

Using personal insights, Haris discusses how his daily life looks like when living with an ultra-rare disease. We talk about the obstacles Haris has been through in his life, how he copes with those and the importance of achieving confidence and independence at all times.

We also delve into the use of technology to support visually and hearing impaired individuals in a number of ways, ranging from communication, to gaining access to information to completing daily tasks. We discuss the benefits that technology has provided to Haris in order for him to achieve independence and keep it.

The discussion includes the topic of relationships and friends and the importance of surrounding oneself with supportive people.

In addition to the difficulties Haris describes, he speaks about his experience of resilience, embracing change and looking ahead. Through his own example, he tells us about the difficulties of coping with Alström syndrome and also the importance of hope, independence, and maximizing life experiences.

This podcast is really much more than just a story about the difficulties of coping with Alström syndrome. It is about Haris and what he experienced and what he learned and wants to pass on to other people with rare syndromes.

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

Disclaimer

The opinions and experiences expressed by our guests are their own and are provided to raise awareness and educate listeners. They should not be taken as medical advice and do not replace consultation with a medical professional.

Music

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

How does it feel to live with Alström Syndrome?

In this episode, Melissa Crowland talks about her experience of living with Alström Syndrome and tells the story of how it has affected her life.

From the difficulties of daily life and dealing with a rare disease to emotional health, independence and planning for the future, Melissa shares a personal insight into living with Alström.

Melissa’s story shows how even though everyone might have the same condition, each individual's experience of Alström Syndrome is unique.

This episode forms part of Living with Alström: Stories, Challenges and Hope, a podcast series bringing together personal experiences, professional perspectives, research and the voices of the Alström community to raise awareness of this ultra-rare condition.

Learn More & Support

For further information about Alström Syndrome, support services and the work of 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 is community if you are living with an ultra-rare disease?

In this episode, I introduce you to the Alström Syndrome Family Festival in New College Worcester, where members from all over the Alström community gather to talk about their experiences, make new connections and help each other out.

By talking to families, patients, scientists and health care professionals, I try to understand the power of connection and what it means to be part of a community that knows the difficulties of living with Alström syndrome.

Furthermore, I give you an impression of my experiences at the festival and reflect on my thoughts meeting others with the same condition.

This episode highlights that living with a rare condition can sometimes feel isolating, but being surrounded by people who understand your experiences can create a powerful sense of belonging, friendship and hope.

This episode forms part of Living with Alström: Stories, Challenges and Hope, a podcast series bringing together personal experiences, professional perspectives, research and the voices of the Alström community to raise awareness of this ultra-rare condition.

Learn More & Support

For further information about Alström Syndrome, support services and the work of 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