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what it feels like

huntington disease runs in my family

'genetic discrimination is a real thing that exists in canada.'

by emma jones

published feb 05, 2021

last updated feb 19, 2023

10 minute read

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10 minute read

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what it feels like: huntington disease runs in my family

the amaryllis is the signature flower of the huntington society of canada. getty

when jenna’s mother began struggling with involuntary, fidgety movements, she knew something wasn’t right. it wasn’t until she was watching an episode of breaking bad, an american crime drama, in which the main character walter white tells his son about his father who had huntington disease, that jenna saw similarities in her mother’s symptoms and began researching the condition. huntington disease is a progressive genetic disorder which causes the gradual degeneration of cells in the brain (neuro-degeneration). the condition is also genetic — someone who carries the gene has a 50 per cent chance of passing the condition onto their children.

according to the huntington society of canada, the mutation affects a section of the genes that encode a protein called huntingtin, causing the development of an altered form of the protein. this mutated protein is toxic to specific areas of the brain and results in physical effects such as jerky movements or muscle rigidity; cognitive issues, like difficulties staying focused or lack of impulse control; and psychiatric symptoms, like depression or insomnia.

there is no cure, nor is there a treatment to stop the progression of huntington disease, however, there are medications that may help manage symptoms.

healthing.ca spoke to jenna, an activist, teacher, and mom whose mother was diagnosed with huntington when jenna was in her mid 20s. jenna talks about helping her mother through the diagnosis, facing discrimination against genetic disorders, as well as coming to terms with the presence of this disorder in her family.

this interview has been edited for length and clarity.

what led to your mom being diagnosed with huntington?

prior to my mom’s diagnosis in our family, there was no like publicly-known individual in our family who had tested positive. we later learned that an uncle carried the gene and had undergone genetic testing, but when he tested positive he decided not to disclose that information to the rest of the family.

there is this ethical question around huntington disease because it’s genetic and my understanding is that he and his wife at the time felt uncomfortable publicly disclosing his diagnosis to the family. my mom exhibited the same involuntary, fidgety movements that he had and if they disclosed his diagnosis, it would have been a clear indication to the rest of us that my mom did as well. the question at that time would have been ‘was she prepared for that information’?

by the time she went for genetic testing, my mom was really struggling. we had gone through a very, very rough few years, and she was experiencing fairly significant cognitive decline and a really heightened emotional intensity. i knew that something was off with her and we couldn’t quite figure it out, so i did a lot of research online. one day i clued into an american crime drama called breaking bad where a character discusses his father who has huntington disease and i thought that sounded just like my mother. i did some more research and when i typed in ‘huntington disease’ online, boom, the descriptions sounded exactly like my mother.

that must have been very difficult for you, especially finding out that it’s genetic.

it was pretty frightening. to me, it meant my mom and all of her siblings clearly were at risk, as well as their kids and their grandkids. it was something that i felt a lot of fear, anxiety and worry about.

it was stressful going through the process of getting my mom diagnosed, and doing the genetic testing. my mom wasn’t in a good place, and it was taking a physical and emotional toll on me, and my whole family. and though it was comforting to have answers that explained what was happening to her so that we could treat the problem, at the same time, it opened a whole new can of worms.

when we did the genetic testing confirmed that my mom had huntington, i did the math, and i think there were 21 other people in my family who were at risk of carrying the gene — there’s a 50 per cent. we’re all really close, so when you’re getting together with the family (before covid) and you’re looking around the room at what that means.

the diagnosis came at a tricky time in my life. i was wrapping up university and about to start my career as a teacher. i didn’t have children yet, but i had met my partner and we were on the trajectory of being together long-term and we had been talking about starting a family and having children. i decided to undergo genetic testing because i didn’t want to pass on the gene to my own children, and i also didn’t want to put my family through the stress, heartache and hardship that we had gone through with my mom.

did you get tested?

i went through the predictive testing process. i don’t carry the genetic mutation that causes huntington disease, so that allowed me to have children and not worry. but it also created a sense of guilt because my family is big, and there’s a part of me that wishes i could take that away from my mom, and my aunts and uncles who are struggling. at the same time, knowing that i didn’t test positive has really given me purpose and a need to advocate for people affected by huntington. when i look at my family now, and those that are symptomatic, or gene positive, i want to be available to advocate for them so that the road ahead is a little smoother.

is there a treatment?

there are medications to help manage symptoms, but unfortunately, there’s no cure. my mom takes a few different medications to help manage her emotions and involuntary movements. from my perspective, i think they have been effective and have worked for her, though i know they don’t work for everyone.

i’ve been involved with the huntington community for close to 10 years, and it’s incredible to see just how much things have changed. when i first joined the huntington community, there were only a few clinical trials and observational studies, but things have just exploded in the last five years. it’s kind of a hopeful time. i don’t think my mom will benefit from the clinical trials that are taking place now, but it’s helpful for my generation within my family and our children.

the huntington society of canada has been my lifeline. they were a key pillar in support and understanding and knowledge acquisition in the beginning. a few years ago, the huntington society of canada, the huntington society of the usa, and the european huntington association all came together to form a group called hd-cope, which is a coalition for patient engagement. we meet with industry regulators and pharmaceutical companies to provide the patient voice.

huntington disease isn’t a one-size-fits-all kind of disease. it’s not something you can read about in a textbook and fully understand, because the way it doesn’t present the same in every person. this is a key factor that needs to be considered in clinical trial development — that it manifests in drastically different ways in different people. this is part of the reason it’s so valuable to provide the voice of the patient as an advocate — it’s important to not only educate people about the impact of this very complex and intricate disease and how it affects families, but also pharma, so they can develop appropriate clinical trials.

caring for your parents and your children puts you in the category of the “sandwich generation.” how do you handle this?

my mom currently lives with my dad, who has some chronic health conditions but, for the most part, he’s able to take care of her. she can be left alone, but she can’t prepare her own food and we don’t like her to eat independently. if there were ever an emergency, using the phone is difficult for her — even communicating is hard. she often stays with us for around 10 days a month to give my dad a bit of break.

we love having her here — my kids love having her here. she’s really joyful and pleasant to be around. still, sometimes i think it would have been nice to have a mother who was able to provide the support that i need at this time in my life. she can share advice, but these moments are few and far between. she might be able to share her opinion about something, but she can’t go into depth about why she feels that way. she’ll just say something like, ‘kids will be kids,’ instead of having a conversation about the challenges of raising kids today. i would have liked that.

but i’ve come to terms with the fact that this is just how it is for me. i’ve accepted that being able to take care of her and support her in this way is actually a gift. i know that when i look back on this time in my life, the way i’ve cared for her will be one of my greatest accomplishments and one of the things that have really defined my character. it’s also a good thing for my children to observe — the value and importance of taking care of others, including your mother.

i can just hope that my own daughter is not part of that sandwich generation where she’s raising her own kids and needing to take care of her dad and i.

it’s not easy being a caregiver.

i’ve started to talk to a therapist about this because i think over the years i’ve been in constant crisis mode trying to deal with what was happening with my mom.

my mom has always struggled with the emotional component of this disease. although her emotions are fairly regulated, she does have episodes when she needs to be coached through her emotions. when she’s having off days, she might call me several times throughout the day. if i see five or seven calls on my phone, that usually indicates she’s not doing well or she’s anxious about something. so i will worry about it for the day, and i spend my breaks booking her doctor’s appointments for her — it has taken a toll.

how do you manage the stress?

i don’t think i manage very well. for a long time, i thought that taking action and solving problems made me feel better about what was going on. but in doing that, i’ve created a dependency — my parents rely on me to helping them and although there have been great gains made from that approach, it’s been hard on me physically and emotionally.

it’s been becoming increasingly more obvious to me that this level of stress is just not sustainable and it’s wearing me down. my therapist has made me think about the impact of my relationships and my role in caring for my parents. at the end of the day, i will support my mom until she’s in the ground and i will give her whatever she needs, but — and i worry about this with my dad too — if i burn out, the trickle-down effect is not going to be good.

are you concerned about discrimination connected to this condition?

genetic discrimination is a real thing that exists in canada. i just applied for life insurance through my employer and i wasn’t approved because of my family history — even though i don’t carry the huntington gene.

there is also an issue with employability. any employer can do a google search of huntington disease and see that it’s genetic. a lot of my family come from very small towns, where everyone knows everyone. so, if you know that huntington disease runs in a family, are you going to potentially risk hiring someone from that family as a long-term employee?

are you concerned for your family going forward, that discrimination might be something that they’ll experience?

i always worry about that. for most people, the onset of disease is around 40-years-old — there is late onset, but we don’t really have late onset in my family. forty is your prime working years and the stage in which you may own your first home, and you have young children. i often think about all of my family members who are approaching that period of life: do they have things in place to pay their mortgage when they can no longer work? do they have job protection? is their workplace unionized? did they pay into long-term disability?

i started a facebook page that only my family is connected to where i share information about huntington disease. we’ve become somewhat disconnected over the years, because we all have a parent with huntington disease, and our own children. some people you can talk about the disease with, and some you can’t. like, my brother and i, we don’t talk about it — ever. i have a cousin who i talk to about it with all the time, but she doesn’t share with some of her siblings. everyone has different feelings and emotions. so, i share the information, and hope that when they are ready to read it, or need the information, it will be there for them.

individuals who have been affected by huntington disease can find support groups and information from the huntington society of canada, the genetics education canada – knowledge organization as well as the university of british columbia’s centre for huntington disease.

emma jones is a multimedia editor with healthing. you can reach her at emjones@postmedia.com or on instagram and twitter @jonesyjourn.

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huntington disease runs in my family

'genetic discrimination is a real thing that exists in canada.'

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'genetic discrimination is a real thing that exists in canada.'

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