Written by Marc’s dad, Jordi.

Marc was born with low weight and stayed in the NICU for three weeks. When he was three month old, during a routine visit to the pediatrician, we were told he had low muscle tone (hypotonia) and we started a vast amount of medical tests without obtaining a diagnosis.

During the next months Marc’s development delay became very clear and, despite several physical and speech therapies, he has never been able to crawl, walk or talk. To make things worse, seizures appeared before his 2 birthday and he has required antiepileptic medication since then.

Three years ago, when Marc was 10, he was finally diagnosed through a genetic test named whole exome sequencing. It was the first time we heard about NGLY1 but that changed our lives. After quick Internet search we contacted NGLY1 Foundation and we immediately realized that we will not be alone anymore.

Now we are in direct contact with many lovely families spread around the world. We are part of a very supportive community tirelessly fighting to to give our kids a better life. It gives us a lot of hope.

Last but not least, thanks to the diagnosis and the support of other families we had the strength to give Marc a lovely sister.

Our family’s story

Marc is our older child and it was difficult for us to understand things were going badly. During the first two years he woke up every two hours, both day and night. He cried a lot and we were unable to communicate with him, which was very frustrating. His medical condition seemed to worsen and, without diagnosis, we feared the worst.

Fortunately, things improved in the following years. His health stabilized and, thanks to different kind of therapies, he began to make progress. The most comforting thing for us is that he began to show affection and socialize, and now he often gives us his lovely smile and his adorable hugs. Instead of being crying most of the time, Marc is now a happy kid who enjoy many things.

Around one year after Marc was diagnosed our daughter Arlet was born. Marc and Arlet love each other and it makes us very happy. It is amazing to see how Marc enjoys when Arlet jumps into his bed and they play together. We are really enjoying this new stage of our life.

Thanks to Marc we have learned what really matters and we have become better persons.

What are your child’s favorite things?
Marc loves listening music, especially when his mother sings to him. He enjoys a lot in the swimming-pool. He also loves pasta and rice.


 

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