In
order to further enhance my learning about Huntington’s disease (HD) outside of
the Neuro Aspects course I’m taking in OT school, I watched a brief video titled,
“Huntington’s disease: I’m taking a test that will reveal my future”, about a
family from the UK who have been affected by this disease. In the film, two
sisters, Danielle and Sophie, have a mom, Lisa, in the late stage of Huntington’s
and have opposite opinions on if they want to do the genetic testing that will
determine if they have the gene from their mother. They understand that there
is a 50/50 chance that either of them could have inherited it, which is also what
we have learned in class. Sophie doesn’t want to know if she has it because she
feels like there will be a “dark cloud over [her] for years to come” while Danielle
prefers to know as she is a newlywed and would love to have children. In the
end, we learned that Danielle did have the gene for HD and she may not show
symptoms for at least 10 years. She went on a honeymoon cruise shortly after (Wright & Beale, 2020).
Danielle
mentioned that in the beginning, her mom often walked like she was drunk and broke
her arm and hit her head around this time, too. This relates to our course
content because knowing that she had trouble with balance and coordination lets us know that it involves the functioning of her cerebellum and basal ganglia. As she progressed to the late stage, she
needed full-time care, was tube fed, and was unable to complete ADLs on her
own. It was shown in the video that Lisa had caregivers outside of her family who
helped her with these activities like putting on makeup and getting dressed to
go out.
I
chose to watch this BBC interview because I wanted more insight on how HD effects
families and to see firsthand how people who have any relation to it, whether
they are experiencing it or providing care, feel daily and/or overall. As of
now, there is no cure for this disease and clinical trials are taking place to
see if new agents might slow down the progress or prevent it from developing in
the future (Wright and Beale, 2020).
References
Wright,
A. & Beal, T. (2020, February 1). Huntington’s disease: I’m taking a
test that will reveal my future. BBC News. https://www.bbc.com/news/av/stories-51310996
No comments:
Post a Comment