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What is 22q11?
It is said that 22q11 Deletion Syndrome is the most common rare disease you’ve never heard of; it is thought to affect as many as 1 in 2,000 to 1 in 4,000 children worldwide. It’s almost as common as another chromosomal disorder you’ve definitely heard of: Trisomy 21, more often known as Down Syndrome.
22q11 Deletion Syndrome occurs when a tiny piece of the long arm of one of two copies of chromosome 22 is missing at position 11. But although that deletion may be microscopic, it causes a ripple effect of symptoms and challenges that can impact a person’s health, including issues with the heart, palate, immune system, thyroid, among others. About 75% of children with 22q11 will be born with heart problems, some of which will require immediate intervention when the child is born.
As children with 22q11 grow, the deletion often causes developmental delays, challenges with abstract concepts like math, and trouble with executive function that can turn life’s daily tasks into hurdles. They may experience a speech and language delay, palatal abnormalities or immunological issues. Later years can bring mental health challenges, like anxiety, which can be severely debilitating. In each person with 22q11, the combination of a vast number of potential symptoms is different.
People living with 22q11 experience multiple health, mental health, social and educational challenges that can present in lots of different ways: no two people will experience the syndrome exactly the same way. The wide range of 180 potential symptoms makes treatment difficult to coordinate. Doctors and medical professionals often treat symptoms in isolation. Instead, a more integrated, cohesive model of care is gradually emerging, which will better serve those affected by 22q11. People with 22q11 and their families deal with a wide array of developmental, educational and social challenges every day, and they need understanding, resources and support as they journey through life with this complex condition.
About 22q11 Ireland
Our goal at 22q11 Ireland is to provide a source of lifelong support for those impacted by 22q11, by welcoming and encouraging families living with 22q11 Deletion Syndrome with open arms and an empathetic ear, and by working to build a holistic care model that will help 22q11 patients and their loved ones throughout their lives.
We want families struggling to understand and absorb a difficult diagnosis to know that in 22q11 Ireland they have a friend, an educator and an ally in the fight for recognition and support.
People with 22q11, their families and supporting professionals are brought together regularly, whether online or in person, to engage with each other, learn from each other, and confide in each other. We do this through organised meet-ups, charity events, and conferences.
We are a community, dedicated to the care of people with 22q11 and their families.
Parents to Be
If you’ve just learned that you’re expecting a baby with 22q11, you are probably experiencing a range of emotions. The excitement and joy of your baby’s impending arrival may be joined by feelings of uncertainty, confusion and perhaps even fear, as you prepare to navigate a different path to parenthood. It’s natural to feel a little lost at this point: your vision of the future is changing, and there is so much to learn.
But you are not alone – our community is made up of Mums and Dads just like you, who have walked in your shoes and experienced the same thoughts and feelings.
Your journey will be unique, but it may help you to hear about how we support our children, adolescents and adults as they live fulfilling, happy lives with their individual gifts, strengths and capabilities.
When you’re ready to talk, just reach out to us via social media, email , telephone and here. We are experts by experience, and we are here to support you.
New Parents
The arrival of a new baby is an exciting and joyful time for everybody in the family. If you also have a diagnosis of 22q11, you might be experiencing a sense of uncertainty or fear about the future. It can be a little overwhelming: we understand, as we’ve been there too.
As a new parent of a child with 22q11, you may well be facing immediate medical challenges. Every child is unique, and your experience will differ depending on his or her needs, but our advice is to take one day at a time. Your journey will 22q11 will be complex and challenging, but throughout it all you have the support of an entire community of people living – and thriving – with 22q11.
You can reach out to us via social media, or email or telephone. We are here for you, when you’re ready, with a wealth of lived experience, as well as open arms and an empathetic ear.
