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Living with AADC | The Shamrin family’s experience

Living life to its fullest

“Daria taught us that in difficult times we should always forgive each other and unite to go together towards the goal” Konstantin Shamrin, Daria’s father

Viktoria and Konstantin Shamrin from Lipetsk, Russia discuss what life is like for them and their daughter, Daria, who has AADC deficiency.

Viktoria: I’m Viktoria Shamrin, this is Konstantin Shamrin and we live in Lipetsk, in Russia. We met in 2003, got married in 2006 and Daria was born in 2010. Now we have three girls, all girls, the youngest is 4 months old, the middle one is 5, Daria is 9 now.

Viktoria: Before we had Daria we were like most ordinary people. However, now that we’ve had Daria, we look back at our lives before her and we realize that we were probably focused on the wrong issues, we weren’t appreciative enough.

Viktoria: When they told us the diagnosis, we certainly didn’t understand the most important thing, the severity of the condition. We kind of just thought, well, thank God we now know what’s wrong with her, as if the hard part was over. Removing a huge weight from our shoulders, we knew everything, we didn’t really realize how severe this condition was.

Viktoria: Veronika (Daria’s younger sister) we tried from a young age to explain. Veronika is 5 years old now, and she already understands much more. There are only two families registered in Russia with this disease. So we only have a few people that we can talk to and share our issues with. When we first started talking to other families who live with a child with the same diagnosis, I think our first feeling was we’re not alone, that there’s always someone we can talk to and ask for help.

Konstantin: Daria taught us that in difficult times we should always forgive each other and unite to go together towards the goal and to help each other out and support each other. Of course there are always difficulties, because life moves at a crazy pace now. We just really love our children and want to give them the best life possible.

 

Getting the right diagnosis

In this video, Viktoria and Konstantin discuss the challenges they faced when getting a diagnosis for Daria after she didn’t achieve movement milestones in the months and years after her birth.

Viktoria: I’m Viktoria Shamrin, this is Konstantin Shamrin and we live in Lipetsk, in Russia. Our eldest daughter’s name is Daria, she’s 9 years old now and our firstborn. When Daria was born, no one understood her condition.

Viktoria: At 3 months, we started to worry, because she didn’t hold her head up, she laid on her stomach, and almost never lifted her head. She was generally very inactive, and had trouble sleeping.

Viktoria: Then after 5 months, when she hadn’t developed any skills a child should have, well, then we just started going from hospital first it was a hospital in Lipetsk, then several times in Moscow and so it went on. We moved from one hospital to another and there was never any diagnosis. According to all their examinations, everything was OK, her brain was OK, all her internal organs were OK.

Viktoria: The tests were all good, they even did some kind of monitoring for epilepsy, and it was also clear, but Daria still didn’t move or develop.

Konstantin: When Daria was about 5 months old, we visited a neurologist in a private center, it was probably the third or the fourth neurologist we’d seen, and I remember that Daria had just had these attacks, or oculogyric spasms, which [we now know] are a characteristic of AADC deficiency, it put her in a completely different state. I tried to explain to the neurologist that this wasn’t usual and that we’d come next time so they could see what she was normally like, but the neurologist absolutely didn’t want to listen to me. Well, it was like talking to a wall. Then the neurologist just started saying that Daria has a severe form of cerebral palsy, and that she will never walk, you will never excuse me…

Konstantin: No one believed in me, I was the only one who believed in myself, believed that we would succeed in collecting a million rubles, to go to Germany to get a diagnosis. After 2 months of raising money we flew to Germany. The diagnosis was made almost in 3–4 days. When she, when Daria was diagnosed, she was a year and 2 months old.

 

Find out more about how AADC deficiency can affect the quality of life of individuals with the condition and their carers

GL-AADC-0989 | January 2022

Welcome to About AADC

A website for parents and caregivers of children with AADC deficiency, and members of the public interested in the condition. This website has been provided by PTC Therapeutics.

This educational website provides information to support awareness of a rare neurotransmitter disorder called aromatic L-amino acid decarboxylase (AADC) deficiency.