Finding Courage Through Community
Niina’s world was crushed with the weight of two AGU diagnoses when her sons were young. She and her family initially faced the uncertainty of the boys’ disease alone; they have since found a community’s love and support to guide them.
Aspartylglucosaminuria (AGU): Finding Courage Through Community
Niina and her husband have three children, two of which have been diagnosed with AGU.
Niina’s daughter was a very fast learner who spoke at an early age. She was a model for normal – even accelerated – development against which Niina and her husband compared the milestones of their sons, Emil and Oliver, two and three years younger than their sister respectively. When the boys were toddlers, Niina noticed their slow speech development and clumsiness. If asked to do easy tasks, such as picking up something from the ground, Emil and Oliver would look confused.
It took years to receive a definitive diagnosis. In addition to their pediatrician, Emil and Oliver saw speech and occupational therapists, all trying to find explanations for why the boys were late to develop certain skills. When Emil was three years old, he returned to the hospital every day for two weeks of tests and exams, but the doctors still did not find AGU.
Looking back on this time period, Niina and her husband imagine that if they had known more about AGU, they would have connected the dots. Beginning at five months old, both boys had nearly constant ear infections. It was more than just a recurrent infection; Niina explains that her sons would end their antibiotics, only to have them prescribed again three days later. Emil was given tubes for his ears at eight months old. Both of Niina’s sons had tubes put in four times.
Over the years, Niina’s family spent a lot of time in doctors’ and therapists’ waiting rooms with concerns about ear, respiratory and eye infections, overgrown tonsils, and difficulty sleeping. One of the reasons it took so long to get a diagnosis was because many doctors thought the ear infections were the primary cause for the developmental delays.
When Emil was four and Oliver was three, the family was sent to a pediatric neurologist familiar with AGU. Emil was diagnosed first, then Oliver.
Niina and her husband had so many questions. “When we got the diagnosis, I think the first thing I wondered was how are my boys going to live their lives? What is going to happen to them? What are they able to do and what are they able to learn?” They also worried about how much help their sons would require.
When they looked farther in the future, they had to confront a heartbreaking question of how long their boys would live. Of receiving their sons’ diagnoses, they said, “it’s the same feeling as when someone close to you dies.”
Hope was slow to appear. In the meantime, they had the Suomen AGU ry organization in Finland to provide support to AGU families. Today, Niina and her husband’s hope comes from knowing that there are researchers, foundations, and organizations doing everything they can to make progress. Additionally, Niina is now a vice-chairperson and an active member of the Suomen AGU ry organization, advocating for progress for AGU.
People have changed their attitude about this. They’re believing that things are happening and that it’s not only about peer support anymore. – Niina
The boys, now eight and nine, are in a special education program. Niina and her husband met with teachers to explain what to expect on good days and bad days. The teachers had another student with AGU, but “not all AGU patients are the same.” For example, Emil has trouble with concentration but few physical problems. Oliver experiences physical difficulties, such as the persistent clumsiness he has continued to experience since he was a toddler.
The disease feels slightly less rare each Easter, when Suomen AGU ry holds its annual meeting for the AGU community. Some families have been attending for 20 years, and some will come for the first time. When Niina’s family attended their first Easter meeting, it required a lot of courage to show up, and people could only speak to the disease symptoms and management. Now these meetings cover other information, like the hope for living with AGU. “People have changed their attitude about this disease,” explains Niina. “They’re believing that things are happening, that it’s not only about peer support anymore. There’s still a lot of work to do though.”Patient Stories Overview