DERWIN: The first time I heard about SMA, my sister was pregnant and her doctor tested her for SMA. Her doctor told her there’s a chance your relatives are carriers as well. So, when we decided that we wanted to have children, Nicole actually went to her doctor and she told us that we should get tested. And we set up an appointment for two weeks, and between those two weeks, she ended up pregnant. She got tested and on my birthday, we got the results that she was a carrier.
NICOLE: We test him. We find out he’s a carrier. So, we had an amnio done. I got a call one day at work. It was, the doctor and she wanted us to come in. I knew it. (laughs) I knew right away that it wasn’t good news.
DERWIN: Nicole was 5 months pregnant when Matteo was diagnosed with SMA. It’s so tough to think that this little thing that you haven’t even met in person; you are so attached to them. You love them so much. It’s just, it hurt. We cried. It hurt some more. But at the same time, we knew we couldn’t just give up on him. My wife got in touch with Cure SMA. They put us in touch with other parents. And, one of the parents guided us in the two options that we had.
NICOLE: We decided on this treatment, because it was a one-time treatment. It actually replaces the missing gene. So that meant a lot to us. Matteo received treatment when he was 27 days old.
DERWIN: I’ll always remember that one day.
NICOLE: Matteo is your typical three-year-old. He’s fun. He’s outgoing and he’s very social. When we decided to go with this trial, we really didn’t have many expectations. I wanted him to be able to breathe on his own and maybe to be able to eat on his own.
DERWIN: Him walking, him running, him doing everything that he’s doing now, is just a bonus.
NICOLE: We don’t need to do anything to manage Matteo’s SMA at this point.
MATTEO: Hi, my name is Matteo. I’m 4½ years old. I want to be a chef astronaut. And I want to cook on the moon.
DERWIN: Matteo has become an awesome little human. He’s very loving. He’s very caring. But he’s also very headstrong and he knows what he wants. And it’s funny to see how someone that is so tiny can grow and show such personality.
NICOLE: Matteo can walk. He can run. He can jump. He can climb up the stairs. He can play in the playground. He can eat. He can talk. He’s very vocal. He received gene therapy at 27 days old, it really did change his prognosis.
DERWIN: From the moment he wakes up to the moment he goes to sleep, he can outlast all of us. And he just goes, goes, goes. He’s just a fun boy. He doesn’t know anything else other than fun.
NICOLE: Matteo’s in preschool and he goes to school Monday through Friday. Seeing Matteo walk into school was something that the doctors told us would probably never happen.
DERWIN: We’re very happy with the opportunity that we’ve had to see Matteo grow. From where we were at, where we had no options or no hope, basically, to where we are today.
NICOLE: I think it’s important to share our story because it gives people hope. It shows people that the treatment is working. It helps parents who were just newly diagnosed and are drowning in this diagnosis. It’s great to have a community that can help you out and that you can talk to and understands what you’ve really gone through.
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