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RARE/D Manchester에서 제공하는 콘텐츠입니다. 에피소드, 그래픽, 팟캐스트 설명을 포함한 모든 팟캐스트 콘텐츠는 RARE/D Manchester 또는 해당 팟캐스트 플랫폼 파트너가 직접 업로드하고 제공합니다. 누군가가 귀하의 허락 없이 귀하의 저작물을 사용하고 있다고 생각되는 경우 여기에 설명된 절차를 따르실 수 있습니다 https://ko.player.fm/legal.
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S1/EP3 - DISCUSSIONS ABOUT HD WITHIN FAMILIES AND THE CHOICES WE MAKE IN LIFE

30:22
 
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Manage episode 281623563 series 2850635
RARE/D Manchester에서 제공하는 콘텐츠입니다. 에피소드, 그래픽, 팟캐스트 설명을 포함한 모든 팟캐스트 콘텐츠는 RARE/D Manchester 또는 해당 팟캐스트 플랫폼 파트너가 직접 업로드하고 제공합니다. 누군가가 귀하의 허락 없이 귀하의 저작물을 사용하고 있다고 생각되는 경우 여기에 설명된 절차를 따르실 수 있습니다 https://ko.player.fm/legal.

In a very different episode, we chat with our very own Jay Roche and his wife Sarah about the family's long connection with Manchester Genetics Department and how different things have shaped their story.
We discuss about making conscious decisions about both small and big aspects of our lives, from parenting to careers. We hear about how we all perceive 'normal' differently, how we recognise the different types of both visible and invisible support around every single one of us, and a grown man hiding in a suitcase!
More about Huntington's Disease:
Huntington's disease (often shortened to HD) is a genetic condition that causes involuntary movements (fidgety type movements sometimes referred to as ‘chorea’) and changes in thinking and concentration as well as behaviour changes such as irritability and low mood.

Symptoms of Huntington's disease usually develop between ages 30 and 50, but can also occur earlier or later. Each child of an affected parent has a 50% risk of inheriting either the normal or faulty copy of the HD gene.** This risk is the same for men and women.

HD is slowly progressive over a number of years. Whilst there is much that can be done to help manage the symptoms associated with HD, there is not currently a way of stopping it. There is, however progress being made in disease modifying treatment trials for HD.

** If a person inherits the faulty copy of the HD gene he or she will go on to develop the condition at some point in the future. If a person inherits the normal copy of the HD gene, he or she will not develop the condition and cannot in turn pass it on to their children

  continue reading

14 에피소드

Artwork
icon공유
 
Manage episode 281623563 series 2850635
RARE/D Manchester에서 제공하는 콘텐츠입니다. 에피소드, 그래픽, 팟캐스트 설명을 포함한 모든 팟캐스트 콘텐츠는 RARE/D Manchester 또는 해당 팟캐스트 플랫폼 파트너가 직접 업로드하고 제공합니다. 누군가가 귀하의 허락 없이 귀하의 저작물을 사용하고 있다고 생각되는 경우 여기에 설명된 절차를 따르실 수 있습니다 https://ko.player.fm/legal.

In a very different episode, we chat with our very own Jay Roche and his wife Sarah about the family's long connection with Manchester Genetics Department and how different things have shaped their story.
We discuss about making conscious decisions about both small and big aspects of our lives, from parenting to careers. We hear about how we all perceive 'normal' differently, how we recognise the different types of both visible and invisible support around every single one of us, and a grown man hiding in a suitcase!
More about Huntington's Disease:
Huntington's disease (often shortened to HD) is a genetic condition that causes involuntary movements (fidgety type movements sometimes referred to as ‘chorea’) and changes in thinking and concentration as well as behaviour changes such as irritability and low mood.

Symptoms of Huntington's disease usually develop between ages 30 and 50, but can also occur earlier or later. Each child of an affected parent has a 50% risk of inheriting either the normal or faulty copy of the HD gene.** This risk is the same for men and women.

HD is slowly progressive over a number of years. Whilst there is much that can be done to help manage the symptoms associated with HD, there is not currently a way of stopping it. There is, however progress being made in disease modifying treatment trials for HD.

** If a person inherits the faulty copy of the HD gene he or she will go on to develop the condition at some point in the future. If a person inherits the normal copy of the HD gene, he or she will not develop the condition and cannot in turn pass it on to their children

  continue reading

14 에피소드

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