02/03/2026
Marissa Mason, mum to a 5-year-old boy, Blayde, who has the rare disorder Emanuel syndrome, was looking for community connections. Her search led her to employ Ruhani, an 18-year-old with Down syndrome, as a physio assistant. Read on for an uplifting story, in Marissa's words, about finding a rare extra-chromosome connection 💛💙🧡. (Part 1 of 2).
“We found out Blayde had Emanuel syndrome when he was two weeks old. We had markers when I was pregnant, but they didn’t know what it was.
"We had just made it home, and then his airway collapsed. So we had a lengthy hospital stay, and the genetic testing came back in that time, too. And, yeah, it's just been a huge journey ever since.
“Up to three months old, we had to manage Blayde’s airway, give oxygen and hold his airway open when he was tired or upset. Sometimes, keep it open until he regained consciousness.
“It flipped our world upside down. My career was history. I was finally in my life: ‘I really like this job, and I’m really good at it!’ But Blayde came along and had other ideas. You know, I used to think I worked really hard, but I’ve never worked so hard in my life as I have over the past few years. Don’t get me wrong, it’s all for the best. He’s very rewarding, and he’s made so many gains. Now he’s eating, sitting, grasping things for short periods, making choices—progress that makes us realise things will be easier when he’s older, if we keep building—but he still has a long way to go.
“I think Blayde would have been about five months old when I first met Jane (Parent to Parent’s Regional Coordinator for CBOP). I couldn't even speak at the table. I just burst into tears, and she just said, ‘It's okay, whenever you're ready.’
“Meeting Jane has been really cool because since then I’ve been to Parent to Parent workshops about advocating for him, and I’ve met parents in similar, if not exactly the same, situations.
“I tap into the Parent to Parent services when I need to. I’ll look at what’s coming up and think, yep, that’s what I need right now. In May 2024, it was a workshop about navigating the school journey, and that’s where Ruhani comes in. I saw her mother, Neena, get up and speak from the heart about being a mum to a disabled child in the Indian culture, and then Ruhani performed a solo with her inclusive dance group. I was blown away.
“I thought, these are the people I need to be around to know that there are things out there for my son, to help him live his best life.”
Read more here: https://parent2parent.org.nz/news/a-rare-extra-chromosome-connection/