Genetic Disorder Research

HUNTINGTON'S
DISEASE
BY JORGE
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: Assistive technologies and products:
 There is medicine like haloperidol, tetrabenazine,  Cane
and amantadine to help with certain symptoms such
as uncontrolled movement.  Quad cane.
 Medicines only help reduce some of the problems. It  Walker.
is not curable and there’s no way to stop it from
getting worse.
 Wheelchair.
 Rollator.
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.
(National Institute of Neurological Disorders and Stroke)

There is research being done by NINDS-funded researchers to:
 Look for a cure
 Test experimental treatments
 Identify factors that influence its progression.
PART 2:
GENETIC
COUNSELOR'S
REPORT
 It is passed from parent to child through a
mutation in the gene for a protein called
huntingtin. The defect causes the building
blocks of DNA called cytosine, adenine, and
guanine (CAG) to repeat many more times than
they normally do.
 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 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 probably wouldn'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 or adjust it, I probably will just go to
work usual or stay at home depending on how the
child is doing.
 As mentioned before by the doctor, when the
symptoms start, I would have to give medicine like
anti-depressants and haloperidol to the child so that
the issues are not as severe, 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.
 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 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.
 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.
 Thankfully there is financial help available and I
wouldn’t need to move out of the province because
of the following community resources.
PART 4:
COMMUNIT
Y
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 most provinces.
 You can contact them by emailing
[email protected] 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.
THE END

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HUNTINGTON'S

(National Institute of Neurological Disorders and Stroke)

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