I have a son and a daughter in their late 20s. Both have DRPLA.
Looking at our family history, their father, grandmother, uncle, and great-grandmother also had this disease.
But back then, we did not know the name “DRPLA.” We were told it was a type of spinocerebellar degeneration.
I divorced their father when they were little.
There were many reasons, but the biggest was that his personality changed, and he stopped working.
At that time, both of my children had developmental delays and seizures.
But we still did not know they had DRPLA. It was a very painful time.
I wanted to rely on my husband, but I couldn’t. I struggled financially and decided to divorce.
Now I realize that my husband had already started to develop DRPLA.
A few years after our divorce, his symptoms showed,
and he later passed away in his 40s, though not directly from DRPLA.
My Daughter’s Journey
As a baby, she cried a lot. But she grew up well, without delays in speech or movement.
At age 5, I noticed something was wrong with her drawings.
They looked different from other children’s.
She was later diagnosed with mild developmental delay.
She started school but could not write. In the second grade, she joined a special education class.
At age 8, she had her first seizure.
A year later, she had another and started epilepsy medication.
Her seizures increased over time.
At 12, after her brother’s genetic test, we finally learned she had DRPLA. (We only tested him because genetic tests are very expensive.)
At age 13, her hands began to tremble, and at 15, her legs became unsteady, causing her to fall a lot. She constantly had bruises.
By 17, she could not walk long distances. By 19, she was using a wheelchair.
Her seizures became more frequent. Her swallowing ability got worse.
At 22, she needed a feeding tube and could no longer eat by mouth.
By 23, she had frequent pneumonia and needed daily suctioning.
She loved people. She loved talking, singing, and dancing.
But now, she has lost her voice, her ability to eat, and maybe even her sight.
Now, she is completely bedridden.
My Son’s Journey
He was a bit clumsy, but he didn’t have major developmental delays and entered elementary school normally.
I first noticed his delay when he was in the third grade of elementary school.
At the time, his teacher told me in a meeting
“It doesn’t seem like he can’t do it because he’s not trying hard enough.”
Because of my younger sister’s developmental disorder,
I will never forget the shock I felt at the time.
Why did both of them…
His delays became more noticeable, and at 10, he had his first seizure—the same year, the same month as his sister.
He began taking epilepsy medication and at age 14, he was diagnosed with DRPLA through a genetic test.
His symptoms appeared later than his sister’s and progressed more slowly. But the disease keeps moving forward.
In his 20s, his legs became unsteady, and his speech became harder to understand.
Now, at 28, he can no longer stand without support and uses a wheelchair.
He can still eat and talk, but his memory and thinking skills are getting worse.
He is losing more and more abilities. Watching my daughter’s condition, I know what is coming next for him. My heart breaks just thinking about it.
As a mother, it’s truly painful to watch my children not grow but decline.
This disease is cruel. And my children suffer the most. I am by their side, but I can do nothing for them. That is the hardest part.
I pray that medicine will come soon.
I just want their remaining days to be a little better. Even just a little.
