A Different Kind of Future
Eeva is the current chair of Suomen AGU ry in Finland. She shares her journey with LivingAGU below, recalling her daughter Kaisa’s diagnosis and their experience since.
Aspartylglucosaminuria (AGU): A Different Kind of Future
As told by Kaisa’s mother Eeva
Two chairs were placed in the middle of the doctor’s room side by side. Those were meant for my husband and me. The experienced neurologist sitting in front of us had a very serious look on his face. It was a start of an hour that crushed our world.
Kaisa is our second-born daughter. She was an attentive and very happy baby. She only cried occasionally. She followed us closely, laughed a lot, and made original and funny expressions.
It was difficult for her to learn to walk. Again and again, she would fall to her bum and start to laugh as if she was trying to amuse us. In retrospect, I think she laughed because we found her clumsiness amusing. But now it makes me almost feel like crying that I found it so funny. Little did I know.
Just before her second birthday, Kaisa learned to walk, but she would fall down frequently without cause. She was clumsy and had problems with gait. Her ankles had turned inward, so an orthopedist ordered her custom-made orthotic braces.
Kaisa’s development of speech was delayed around the age of three years old, but it didn’t seem too problematic because she preferred to sing. She learned to sing first and only thereafter, did she learn to speak. The happy and cheerful Kaisa, however, was restless during night time. Her first three years were especially difficult because she had trouble sleeping and would cry out for company multiple times during the night.
Kaisa’s learning and development of physical abilities were delayed. Respiratory infections were a constant. Finally, when Kaisa was about four years old, the orthopedist directed Kaisa to see a neurologist. Tests were performed and blood samples were taken. Nothing was found, and we got no answers for her developmental delay.
It was a Thursday in 2009, just before Easter, when my husband and I forced ourselves to sit in those two chairs across from the neurologist. One more test had been ordered – a simple urine sample. The answer was found there.
The doctor told us that our daughter, then five years old, has a severe and rare hereditary disease that cannot be cured. The illness is insidious and evil in such a way that a baby can be born looking perfectly healthy, but gradually the disease takes the upper hand on the body and the mind. The malfunction in one single amino acid in her DNA will cause an accumulation of a specific protein in all her cells that will gradually destroy the skills of our child.
She would never learn to read, understand math or any other basic school subject more than a preschooler. Her abilities would be at their best when she’d be around 15 years old, and at that age, she’d have the abilities of a six or seven years old child. Slowly, her abilities would dissolve, and she’d move deeper into dementia. We might have to say goodbye to her before our own time would be up.
At that moment, the curtain preventing us from seeing the future was lifted. We had to stare at a sight no one should be shown. That sight crushed us.
That night at home, Kaisa sang a song that was new to us. “Hey, hey and let’s have a hug, wish me a good trip.” She was on her way somewhere unknown, and we would have to walk with her.
The diagnosis was AGU disease. AGU (A rare neurodegenerative lysosomal storage disease (LSD) characterized by developmental delay, psychomotor regression, worsening intellectual disability, gait disturbance, and shortened lifespan. There are currently no available treatments for AGU.) is a metabolic disease where a gene defect causes the glycoprotein aspartylglucosamine to accumulate in cells. This disrupts the normal functioning of cells, especially in the brain.
We have been living with the disease for nine years. It has become part of our so-called “normal” life, even though it is a guest that nobody invited.
Kaisa is now 14 years old. She is very self-reliant — and probably would be even without this horrible disease. Her gait is still clumsy, and she has difficulties in carrying her body due to lack of muscular tension, which we now know is called hypotonia. Her level of knowledge in many matters is low, around the level of an infant.
On the other hand, she is very sociable and has a keen interest in other people. She’s well accepted in our small neighborhood and very liked at her special educational class at school. She is naturally positive. She has no ability to lie, but also no understanding how to be diplomatic.
Kaisa always seems to be happy when there are things to do and friends around. Every Sunday, she starts asking what she’s going to do next weekend and when it is time to go to her temporary weekend care unit.
We’ve never told her that she is severely ill with AGU. She would never be able to understand the effect of that knowledge and what it means to her own life. Instead, we’ve let her be that charming, lovely girl she is. She’s special and rare — Kaisa is Kaisa.
Predicting the future is impossible, but now when we’re thinking of the future — maybe this story has a different ending than the desolate one the very serious neurologist offered us. Maybe we shall see light at the end of the tunnel in the near future.Patient Stories Overview