22q: One of Australia’s most undiagnosed syndromes

Michelle, Ruby and Emily. (Image Credit: Supplied.)

WHEN Michelle’s twin daughters, Ruby and Emily, were born she had never heard of 22q11.2 deletion syndrome.

The syndrome, which affects 1 in 1000 births, is one of the world’s most undiagnosed syndromes because it has so many symptoms.

22q11.2 deletion syndrome, which is also called DiGeorge syndrome, Velocardiofacial (VCFS) syndrome, and Shprintzen syndrome, is one of the most prevalent genetic syndromes in Australia, second only to Down syndrome.

The condition, abbreviated to 22q, occurs where a piece of DNA on the 22nd chromosome is missing.

Many who have the condition are diagnosed as young children, however, some are not diagnosed until they reach their late teens or adulthood.

There are many indicators of 22q; some include heart defects, poor immune function, a cleft palate, speaking and feeding difficulties, low levels of calcium in the blood, and delayed development issues, such as behavioural and emotional problems, including anxiety.

For Michelle, it all started when the doctors noticed facial asymmetry issues with Ruby and Emily including problems with their heart so they ordered a FISH (Fluorescence in situ hybridisation) test.

“Six weeks later we got the diagnosis of Velocardiofacial syndrome,” Michelle said.

In that time, Ruby’s health deteriorated.

“She ended up being in the hospital for five months before she came home,” she said.

“She had three holes in her heart.

“She had difficulties feeding.

“She had a feeding tube inserted and had an operation where they wrapped her stomach around her oesophagus to stop her from vomiting.”

When Ruby came home, Emily’s health started to deteriorate.

“During that time, we started the screening process that comes with Velocardiofacial syndrome diagnosis, and we noticed that there was another hole in Emily’s heart,” Michelle said.

“She ended up having really bad problems with her airway as they hadn’t formed properly.

“That was causing issues with her breathing and feeding so they fixed that.

“That all happened within the first year.”

Both girls underwent heart surgery.

“That’s what is really interesting about 22q,” Michelle continued.

“Ruby and Emily are genetically the same but it has presented itself differently in both of them so it just shows how different the symptoms, and the severity of the symptoms, can be with 22q.

“Ruby had three holes in her heart, and Emily had one, but you think they should be the same because they are genetically the same.

“I had no idea what VCFS was, and there wasn’t that much information out there.

“It was hard to find the right information that you could trust so that’s how we found the 22q Foundation.

“They’ve been our saving grace because they were able to give us the right information, advice, and support,” Michelle said.  

November 22 is Australia’s very first 22q national fundraising and awareness day; titled Pink and Blue for 22q.

The day is being organised by the 22q Foundation Australia and New Zealand to highlight the little-known genetic condition.

To support the cause, those taking part are being encouraged to show off pink and blue colours in any way they would like.

Maria Kamper, president of the 22q Foundation, said this education and fundraising effort will give people the chance to learn more about the syndrome and how they can help.

“While not many know what 22q is, we hope that by holding a day that people can be a part of, we will reach more ears and give those with 22q a voice,” Ms Kamper said.

“Education is key.”

Georgia is living with 22q. (Image Credit: Supplied,)

Seventeen-year-old Georgia was diagnosed with 22q when she was four-years-old.

Georgia says one of the hardest things for her is meeting new people.

“I always get nervous meeting new people as my speech is sometimes hard for others to understand, and I feel like they’re going to make fun of me,” Georgia said.

Georgia says she is receiving great support from a childcare worker whilst she is training to become one herself.

“With her support, she is helping me gain confidence.”

She hopes that one day people will know more about the syndrome and will give people living with 22q the support they need.

“I would like people to treat me like normal, and also know that I do struggle with things others find easy,” she said. 

For Michelle, she believes the syndrome is just not recognised enough for the 22q Foundation to be able to provide more than what they’re doing at the moment.

“They need the funding and the resources, and the government should be doing more to support this wonderful organisation,” she said.

Michelle said her daughters, whilst still experiencing severe developmental delays, says they are the happiest children ever.

“They’re funny! They have a great sense of humour,” Michelle said.

“They just love life.”

Money raised for the foundation will go toward supporting people living with 22q.

For more information about 22q, the foundation and November 22, visit 22q.org.au

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Ryan Fritz

Ryan Fritz started The Advocate in 2014 to provide not-for-profits and charities another media platform to tell their worthwhile hard news stories and opinion pieces effortlessly. In 2020, Ryan formed a team of volunteer journalists to help spread even more high-quality stories from the third sector. He also has over 10 years experience as a media and communications professional for not-for-profits and charities.

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