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Jorge Avila
Mr. Corbett
Science 9(1)
6 June 2023
Genetic Disorder Research: Huntington's Disease:

Part 1: Doctor’s Report

Symptoms:
 Usually develop between ages 30-50 but can appear as early as 2 or as late as 80.
 Uncontrolled movement of the arms, legs, head, face, and upper body.
 Decline in thinking and reasoning skills.
 Depression, anxiety, and uncharacteristic anger and irritability.
 Obsessive-compulsive behavior, leading a person to repeat the same question or activity
over and over.
Treatment options:
 There is medicine like haloperidol, tetrabenazine, and amantadine to help with certain
symptoms such as uncontrolled movement.
Statistics:
 In the United States, about one of every 10,000 to 20,000 people get it and in Canada 1 in
7,000 people get it.
 It’s a rare disorder. In the US only about 15,000 people have the disease and in Canada
about 4,700.
 Although anyone can develop it, it tends to run in people of European descent.
Curable?
 Medicines only help reduce some of the problems. It is not curable and there’s no way to
stop it from getting worse.
Research:
 There’s research being done to look for a cure
 There’s testing of experimental treatments
 There’s research for factors that influence its progression.
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Assistive technologies and products:

 Cane
 Quad cane.
 Walker.
 Wheelchair.
 Rollator.
Part 2: Genetic Counselor’s Report
 It is passed from parent to child through a mutation in a particular gene located in
chromosome 4.
 Huntington's disease is inherited as an autosomal dominant trait, meaning that a single
mutated copy of the responsible gene (called HTT) is sufficient to cause the disease.
 Due to the dominance of the mutant allele if one parent is heterozygous for the huntingtin
gene and therefore is affected by the disease each child has a 50 percent chance of
inheriting the HD gene. If the child does not have the gene then it can’t be passed on
anymore.

Part 3: Parent’s Report

 I would probaly woulnd’t have to change my routine for a few years because this disorder
doesn’t affect you since you are born. When i do have to change it I probaly will just go
to work usual or stay at home depending on how the child is doing.
 When the symptoms start, I would have to give medicine like anti-depressants and
haloperidol to the child so that the issues are not really bad, depending on the age. I will
also have to buy some sort of walking aid like canes or a wheelchair because the child
could easily fall down.
 According to the National Library of Medicine, for people suffering the disease “The
mean total all-cause direct healthcare costs were $23,211 [$38,599] per person-year, with
hospitalizations accounting for 57.8% of all-cause costs. Costs were higher among
individuals with a long-term care stay, a proxy for disease severity” ( in 2022). That is
roughly $10, 000 more than the cost of a healthy child.
 It would be sad knowing that one day the child could be fine and then the next day the
symptoms could start with no way of stopping them or curing them, but the good side is
that at least he/she will be fine for a few years, so at least my “family” would get to make
some good memories.
 When the symptoms start, the child would have to be taken care of at all times because
they could hurt themselves if they are left alone. It might affect them quite a bit because
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they might have had dreams to do something or be a certain profession, that now with the
disorder active would be really hard or impossible to do.
 I wouldn’t need to move elsewhere because of the following community resources.

Part 4: Community Resources

 I found The Huntington Society of Canada which is a non-profit organization that

supports people in Canada affected by this condition.
 They have chapters and active areas where there are volunteers who can help in all
provinces.
 You can contact them by emailing volunteer@huntingtonsociety.ca or calling 1-800-998-
7398.
 You can get financial assistance from the National Benefit Authority, which is Canada’s
largest disability tax service provider. The Disability Tax Credit offers upwards of
$50, 000 per application. You can apply for your Disability Tax Credit by giving them a
call at 1-888-389-0080.

Works Cited
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"Chapters near You: Huntington Society of Canada." Huntington Society of Canada | We

Support Those Facing Huntington Disease, 27 Jan. 2023,
www.huntingtonsociety.ca/chapters-near-you/.
Cleveland Clinic Medical Professional. “Huntington’s Disease: Genetics, Juvenile Cases &
Chorea.” Cleveland Clinic, my.clevelandclinic.org/health/diseases/14369-huntingtons-
disease#:~:text=Although%20anyone%20can%20develop%20HD,of%20also%20having%20the
%20disease. Accessed 5 June 2023.
"Huntington Society of Canada." Huntington Society of Canada | We Support Those Facing
Huntington Disease, www.huntingtonsociety.ca/. Accessed 5 June 2023.
"Huntington’s Disease." Huntington’s Disease | Johns Hopkins Medicine, 8 Aug. 2021,
www.hopkinsmedicine.org/health/conditions-and-diseases/huntingtons-
disease#:~:text=You%20can’t%20cure%20or,movements%20caused%20by
%20Huntington%20disease.
Mennitto, D. “Huntington’s Disease Research at the Johns Hopkins Hospital.” Huntington’s
Disease Research at The Johns Hopkins Hospital, 21 Sept. 2022,
www.hopkinsmedicine.org/psychiatry/specialty_areas/huntingtons_disease/
research/.
"Huntington’s Disease." NHS Choices,
www.nhs.uk/conditions/huntingtons-disease/treatment/#:~:text=There’s%20currently%20no
%20cure%20for,problems%20caused%20by%20the%20condition. Accessed 5 June 2023.
"Huntington’s Disease." National Institute of Neurological Disorders and Stroke,
www.ninds.nih.gov/health-information/disorders/huntingtons-
disease#:~:text=HD%20is%20an%20inherited%20disorder,that%20carries%20the
%20HD%20mutation. Accessed 5 June 2023.
"Living At-Risk for HD – Huntingtonsociety.Ca,"
www.huntingtonsociety.ca/wp-content/uploads/2017/03/Living-At-Risk-Mar-2017.pdf. Accessed
5 June 2023.
"Huntington’s Disease." UCSF Health, www.ucsfhealth.org/conditions/huntingtons-
disease#:~:text=In%20the%20United%20States%2C%20Huntington’s,between%20age
%2030%20and%2055. Accessed 5 June 2023.
“Huntington’s Disease: The National Benefit Authority: Canada." The National Benefit
Authority, www.thenba.ca/disabilities/huntingtons-disease/. Accessed 5 June 2023.
E., Shawn. “Epidemiology and Economic Burden of Huntington’s Disease: A Canadian
Provincial Public Health System Perspective.” Journal of Medical Economics, Dec. 2022,
https://pubmed.ncbi.nlm.nih.gov/35073826/