Marissa Mason, mum to a 5-year-old boy, Blayde, who has the rare disorder Emanuel syndrome, talks about her journey to find supportive connections, which recently led her to employ Ruhani, an 18-year-old with Down syndrome, as a support worker.
When you discover your baby has a rare disorder, one of the first things any new mum seeks—that is, a human connection with someone in a similar situation—becomes infinitely harder to find. If your child has a syndrome so rare that its prevalence is unknown, [1] as was the case for Marissa, the internet is the only place to turn.
It was when they were back in the hospital, at two weeks old, after Blayde’s airway collapsed, that they got the genetic testing results, “It’s just been a huge journey ever since,” says Marissa.
Marissa’s cybersearching for others with the same rare condition, Emanuel syndrome, gave their family hope that Blayde could grow out of his breathing issues, and the knowledge to question a bleak prognosis and stark choice from their consultant: tracheostomy or palliative care.
It was through the Emanuel Syndrome Facebook Group that she found a mum overseas who said her daughter’s airway problems had resolved at three months, although she couldn’t guarantee the same for Blayde. The consultant, relying on an outdated leaflet for information, seemed unaware of this common outcome among this rare group of children.
It becomes obvious from hearing about the first five years of Blayde’s life that when you have a child with a rare disorder, you have to become an educator to professionals whom you might usually, unquestioningly defer to, as well as a voice for your child and other families, to fill an information void.
Listening ears have been a lifeline for their family since Blayde was born on 24 February 2021. Marissa describes the young nurse who saved them from the Hobson’s choice they were given at two weeks—who sat with her that night and heard their story—as an ‘angel’ who advocated on their behalf. Marissa writes, in Blayde’s voice on their Blayde’s World Facebook page, “Next minute I’m upgraded to a big bed and a big important-looking fella came to see my mum and said we are moving to a ward and there is no more tracheostomy pressure aaaand my mum gets to have sleepovers!”
Through Blayde’s World, they have created an educational online community about living with Emanuel syndrome that serves as both a guide for others and a record for them. All while caring for a baby with multiple extra needs 24/7. A whole lot to take on as a family unit of five, without outside, real-world support.
But Marissa had learnt from the early weeks in hospital—at Starship and Tauranga—that there were people out there who would listen, learn about Emmanuel syndrome, and lean in to support Blayde. So, when he was about five months old, after two months at home juggling airway support, physio, non-intubated feeding, medical advocacy and support pathways—on little to no sleep—she contacted Parent to Parent.
“Jane (Parent to Parent’s Regional Coordinator for CBOP) would be able to tell you about that first support group meeting—how little he was and floppy, and how far he’s come since,” says Marissa. “I was so exhausted, I hardly remember. I couldn’t even speak at the table. I just burst into tears, and she just said, ‘It’s okay, whenever you’re ready.’
“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.
“Meeting Jane has been really cool because since then I’ve been to Parent to Parent workshops about advocating for him; learnt about Enabling Good Lives, about navigating the various systems; and I’ve met parents in similar, if not exactly the same, situations.”
While no one can take away the everyday challenges a family faces, Jane connected the Arnolds to new information, tools and people to help them find their way through.
An example Marissa gives is how an advocacy workshop gave her the confidence to question the timeline for Blayde’s transverse cleft surgery. “It would usually be done at five months, but we didn’t hear anything,” she explains. “Nobody wanted to do it. He was about 18 months old when I met with a surgeon, and I could tell they weren’t going to do anything. I said, ‘I just don’t want him to be any bigger,’ and the surgeon said, ‘That’s great for me, if he’s bigger, because everything’s bigger for me to work with.’”
Rather than accept his preference, Marissa decided now was the time to advocate directly. Biting the bullet, she made clear that it wasn’t good for them from a developmental standpoint. “What if I can’t teach him how to eat?” She questioned. “What if that window passes? What if he gets totally over the food going in and then out the other side?”
The surgeon took Marissa’s points on board. “In two months, we had the surgery booked. It felt so good, even though I had a big lump in my throat at the time, because I was so scared. These people are really smart, and you just feel like you can’t challenge them, but I had done the advocacy workshop right before, so I did.
“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.”
Fast forward to October last year—after many challenges and a few hard-won triumphs in securing some support care, funding, equipment, therapies, and the occasional respite—Marissa went along to Parent to Parent’s ‘Beyond School’[2] workshop at the special education unit of Te Puke High School. Ruhani was also attending.
Marissa was there to make a work experience offer. For Emanuel Syndrome Awareness Day, Marissa was planning an awareness and fundraising event in Te Puke, ‘Blayde’s World Big Day Out’, [3] and was seeking volunteers. Ruhani took up the opportunity.
Just before the big day, Marissa had what she called a ‘silly’ idea. Jane recalls, “She rang me and said, ‘Jane, you’re going to think this was a silly idea.’ Of course, Marissa’s ideas are always far from silly. She told me about her appointment back at the special education unit to check volunteer sign-ups and how she had floated the idea of creating a job opportunity for one of the disabled students.”
“I have a teenager who helps me during the week, and she’s amazing,” explains Marissa, “but I thought it would be great to have some support with Blayde’s physio at weekends, to give a young disabled person their first leg up on the job ladder and to have Blayde involved with more people. A win all round.”
But Marissa didn’t get much interest. “That’s why I rang Jane and said, ‘Am I being stupid? I suppose it wouldn’t make much of a difference, a little part-time job.’ Jane disagreed, saying she knew someone who would be perfect. Of course, I hoped it would be Ruhani; she hadn’t been at the unit when I visited to make the job offer.
“And it was. Now it’s her third session supporting Blayde and me. She’s everything we need—helpful and caring, and he adores her. The connection is fantastic.”
Marissa’s doubts about whether this job would make a difference are put to bed by Ruhani’s description of what it means to her:
“Amazing, my life is really saved. A proud moment for my parents as well. Sometimes I tell my siblings that I have a job, and they go, ‘Aw, I’m so proud of you!’ That’s what I really want, for them to be proud of me.”
[1] ‘A paper by a group of Japanese researchers on the theoretical prevalence of Emanuel syndrome suggested it may occur in 1 in 110,000 births, but we really do not know how many people with ES are living worldwide (Ohye, 2014. https://emanuelsyndrome.org/wp-content/uploads/2023/05/Emanuel-Syndrome-Guide-Final-1122.pdf. Marissa has yet to meet another person with Emanuel syndrome in New Zealand. She has, however, met an Australian mum whose child is about the same age. This mum has also never met anyone else with Emmanuel syndrome.
[2] A series of workshops about preparing for life after school, funded by Spectrum Foundation.
[3] Emanuel Syndrome Awareness Day is celebrated on 22 November to represent the specific chromosomes involved in the genetic disorder: chromosomes 11 and 22. The main aim of the fundraising is to fund intensive therapy sessions at The Centre of Movement in Rotorua. These sessions will help Blayde achieve physical milestones such as longer grasping, standing, and eventually walking, so he can better access all that is on offer when he starts school.
About Emmanuel Syndrome
A rare genetic disorder caused by an extra, ‘derivative chromosome’, only a few hundred cases of Emanuel syndrome have been reported in medical literature. The extra chromosome (made up of parts of chromosomes 11 & 22), causes a range of intellectual and physical development challenges, not least of which is low muscle tone (hypotonia), leading to breathing and feeding difficulties in the first months of life. More than half of babies with Emanuel syndrome are also born with a cleft palate, which can further complicate these issues.
Emanuel syndrome is named after Dr Beverly Emanuel, a cytogeneticist in Philadelphia, USA. In 2004, founding members of Chromosome 22 Central, an online parent support group for chromosome 22 disorders, successfully lobbied to have the name applied to the condition previously called ‘derivative 22’. Dr Emanuel is recognised for her laboratory’s work on identifying the source of the derivative 22 and for her association with the parent support group.
How is Emanuel Syndrome Different from Down Syndrome?
Typically, individuals have 46 chromosomes, but those with Emanuel syndrome inherit an extra, supernumerary, derivative chromosome 22, resulting in partial trisomy of chromosomes 11 and 22 and giving them 47 chromosomes in total. This is much like how individuals with Down syndrome have an extra chromosome 21 – a trisomy 21.
Down syndrome is not considered a rare disorder; it is the most common chromosomal condition. It occurs in approximately 1 in every 640 to 1,000 live births globally.
Emanuel syndrome is a rare genetic disorder, but its exact incidence is unknown. Dr Emanuel’s laboratory discovered that the extra chromosome is inherited from one of the parents. The carrier parent has the usual number of chromosomes – 46. However, one of the chromosome 11s and one of the 22s have switched pieces – this is called a translocation. Since no genes are gained or lost, this is called a balanced translocation.’ rarechromo.org/media/information
Carriers are usually discovered only after having a child with Emanuel syndrome (unbalanced translocation) or experiencing recurrent miscarriages.
For more information, go to www.c22c.org
Awareness Days
Emanuel Syndrome Awareness Day is celebrated on 22 November (11/22) to represent the specific chromosomes involved in the genetic disorder: chromosomes 11 and 22. World Down Syndrome Day is celebrated on March 21 (3/21) to symbolise the uniqueness of the triplication (trisomy) of the 21st chromosome, which causes Down syndrome.
Every year on Rare Disease Day (the last day of February) Rare Disorders NZ kicks off a month-long campaign to raise awareness of rare disorders and to celebrate the rare community in Aotearoa. They do this by calling on Aotearoa to ‘Glow up and Show up for Rare’ to show support for the 300,000 Kiwis living with a rare disorder.
