My family has five members — my husband and our three daughters.
My husband and two of our daughters have DRPLA. Both daughters are already married.
We don’t know the exact age when the symptoms started.
But we think my husband showed signs in his 40s or 50s, and our daughters in their 20s.
The hardest part of this illness was my husband’s change in personality.
He couldn’t control his emotions anymore — especially anger.
He would yell in a loud voice, get very angry, and break things, even over small things or for no clear reason. He liked drinking alcohol.
But when he drank, his anger got even worse.
Because he couldn’t control his feelings, he would get angry in public places too —
staring at people, shouting loudly, or even yelling over the phone.
If I tried to stop him, he’d get even angrier. I’ve even called the police before.
He’s my husband, but he’s big and strong, so I was really scared. Although it was caused by his illness, I’m a human being too—even as his caregiver. There are times when I can’t handle it all on my own, and I’ve developed PTSD as a result.
My husband retired, drifted from job to job, and eventually secured employment through a program for people with disabilities.
Looking back now, I think his inability to perform his original professional work may have been due to interpersonal issues, as well as a decline in his intellectual abilities and cognitive function.
On top of that, his unsteadiness while walking became severe. People even asked if he was drunk.
My husband has now calmed down in terms of getting angry or breaking things. However, the amount of assistance he needs when we go out has increased. He’s at high risk of falling, and lately, whenever he sits down to do something, he looks like he’s about to fall backward.
Ever since he was diagnosed, he’s been saying, “I’m fine—I just hope my daughters get their medication in time.” That breaks my heart.
Furthermore, the onset of tonic-clonic seizures—which my husband never experienced—was the trigger for both of my daughters.
My daughters also experienced personality changes, though not exactly the same as my husband’s. They could no longer hold down jobs due to cognitive decline; they lost the ability to remember things and became too unsteady to continue working. Looking back now, I think the reason they kept changing part-time jobs was because they were gradually losing the ability to learn new tasks.
Currently, both my husband and daughters have difficulty walking and have switched to wheelchairs; they can no longer perform the fine motor skills required for daily life. It’s also becoming harder to understand their speech, and they have difficulty swallowing.
With the help of their husbands, my daughters are managing to get by, but their cognitive decline and intellectual impairment are progressing, making it difficult for them to understand things like how to choose and put on clothes. They require supervision and assistance with every activity.
My younger daughter, in particular, experienced a rapid progression of the disease after having a child, making childcare increasingly difficult. Due to her cognitive decline and personality changes, she often gets into arguments with her 6-year-old child. I’m also worried about the impact this will have on my young grandchild’s development.
Hereditary diseases manifest within a single family.
Statistics show the number of patients, but they don’t account for the fact that three members of a single family may be affected. This leads to a situation where one person must care for three family members. Furthermore, even if my remaining daughter hasn’t shown symptoms yet, I constantly live with the anxiety that she might develop the disease.
What’s most heartbreaking is that, despite having the same disease, my daughters—who experience seizures—have more severe symptoms than my husband, who was diagnosed first. They are gradually losing the ability to do things they once did effortlessly, struggling to understand the world around them, and even their personalities are changing.
For families living with this incurable, progressive disease, the pain and sadness are beyond words. We have to watch the disease progress right before our eyes, year after year. No matter how much we cry, the tears never stop.
To make matters worse, there is also the financial burden.
We want a treatment. If there is any hope—if there are clinical trials—we would rather participate in them than just wait for the disease to progress.
