Hope Lost and Found
In the years before and after their son Oliver’s AGU diagnosis, Mika and Pia have not given up on their search for information. Through their emotional journey, they’ve experienced both ups and downs in parenting a son with a rare disease.
Aspartylglucosaminuria (AGU): Hope Lost and Found
Mika and Pia are from Finland, although they currently live in Sweden with their three children. A busy household, they seem like your average modern family, but they have a deeper story to share that began not long after the birth of their first child, Oliver.
When Oliver was five years old, he was diagnosed with AGU, a rare, neurodegenerative, inherited Inherited metabolic diseases that are characterized by an abnormal build-up of waste products in the body's lysosomes caused by enzyme deficiencies. Nearly 50 of these disorders have been discovered, one of which is AGU, and these diseases lead to progressive physical and mental deterioration.. The entire family and their community have lived Oliver’s rare disease experience together in the years since.
It was a long and complex journey to arrive where they are today.
Mika and Pia have a difficult time remembering when exactly they noticed signs that something was not right with Oliver’s development. He had frequent ear infections beginning at eight months old. Doctors believed the presence of fluid in his ear was affecting his hearing ability, speech development, and balance. The family never questioned the medical guidance they received, and Mika and Pia had no reason to believe Oliver’s developmental delays were the result of something more severe.
When certain symptoms became more apparent, the family’s search for answers became more serious. Pia vividly recalls shouting upstairs to her son one day to let him know that his dad was home from work, one of his favorite moments of the day. When Oliver didn’t respond, both parents started to worry. At the referral of their ear doctor, the family visited a hearing clinic and a neurologist. The neurologist gave their son occupational and speech therapies to help develop his delayed motor skills and speech.
When Oliver was about five, his neurologist ordered additional blood and urine tests that led to the AGU diagnosis. “We knew there was something more serious when they did not want to tell us his results over the phone,” recalls Mika. Mika and Pia were initially shocked with their son’s diagnosis, as well as overwhelmed with feelings of hopelessness.
Now 15, Oliver has experienced his own waves of emotions through the years. “It’s very difficult when Oliver asks us about this disease,” says Pia. “Even as Mika and I come to terms with our vision for the future, we have to talk to Oliver about it. Your child is still the same child as the day before his diagnosis, only the parents’ knowledge of the disease has changed.”
Connecting with the foundation has been the best link for us to feel that we’re not alone…there’s help to be found. – Mika
Although Oliver experiences some of the cognitive and emotional delays characteristic of AGU, it has not left him without a kind heart or humor. His parents say he’s very sociable, making friends easily through his school years.
There are certain skills that Oliver works hard to preserve. He loves to listen to reading, which helps keep his vocabulary up. He couples school work with writing letters and copying the names of his favorite hockey players.
The family has its good days and its bad days. Mika looks forward to playing football, going cycling, and swimming with Oliver and the family, though Mika noted that Oliver could sometimes become easily frustrated because he had trouble working through conflicts. As with many other families with AGU children, Oliver can be easily distracted by the TV, or he can become very restless if there are not people there to keep his motivation levels up. Says Mika, “Having a good day requires a lot of resources.” Those resources include family members, community support and caretakers who help the family manage life. Mika works full-time and Pia maintains a part-time job; with three children, the support of the community they’ve built around them goes a long way.
After Mika and Pia were connected with the Suomen AGU ry Foundation in Finland, it reinforced the message that they have a strong community supporting them. “That has been the best link for us to feel that we’re not alone… Others are able to live with this, and there’s help to be found.”
Having a good day requires a lot of resources. – Mika
Today, with continued efforts for more research to help people living with AGU, Mika feels that his family might have a new future. In the meantime, they continue to find ways to advocate for AGU. Says Mika, “If I were personally to face someone who had just received the diagnosis, I would probably try to let them know they are not alone, that there are other families, and then try to help the family visualize our life. It is a good life we live despite the disease.”Patient Stories Overview