It was close to Sarah Ryan’s 50th birthday when she was diagnosed with 22Q11.2 Deletion Syndrome. It turned out to be the cause of a number of health problems she had lived with her whole life.
“I reflected on all the things I thought were wrong with me and I had something to blame”
Sarah Ryan, Diagnosed with 22Q
Her daughter Leah was attending a hospital appointment at the age of 12 when a pediatric nurse noticed that she was walking funny. The nurse suggested she go through fluorescence in situ hybridisation (FISH) testing.
Leah’s father, Chris Ryan was shocked: “12 years of GP’s, going through hospitals et cetera, and never noticing that one foot was definitely different to the other.”
His wife agreed: “We got the feeling he was the only one at the time that knew about the 22Q Syndrome.”
The test results confirmed that Leah has 22Q11.2 Deletion Syndrome. Doctors then tested her parents and Sarah’s results came back to reveal she too has 22Q11.2 Deletion Syndrome.
Video: The Ryan family talk about their 22Q diagnosis and experiences since then.
22Q11.2 Deletion Syndrome is a genetic disorder which is now known to be almost as common as Down’s Syndrome, with estimations of 1 in every 1000 babies being affected. However, this figure is expected to be higher as many cases go undiagnosed.
Cardiff University is researching micro deletions and duplication’s in the ECHO study, to understand the psychological effects that 22Q has on individuals.
Sam Chawner, a researcher in the ECHO study explained: “We’re particularly focusing on the mental health aspects, so many individuals with 22Q can have learning difficulties, autism, ADHD, anxiety, mood difficulties, and psychosis and we want to understand more.”
Video: Samuel Chawner talks about 22Q and why it often goes undiagnosed.
Their aim is to predict who will develop mental health difficulties and understand how it can be prevented.
For many families it’s a matter of learning as you go along. Due to the varied nature of 22Q, it’s hard to know what symptoms an individual will have.
Eloise Lee was diagnosed when she was 10 months old. Her Mum Dawn had always had a feeling something wasn’t right, particularly when she noticed food and milk coming out of Eloise’s nose. Her GP was not concerned.
“she was missing her uvula which hangs down at the back of your throat ”
Dawn Lee, Mother of Eloise, Diagnosed with 22Q
Dawn explained: “We started to notice a couple of other things, Eloise was a really serious baby and she also started to get behind on her milestones, so she wouldn’t sit up for quite a while, she wouldn’t crawl for quite a while.”
Video: Dawn Lee talks about her experience with 22Q and her daughter’s diagnosis.
Eloise is only a baby and her family is gaining new insights on a daily basis. She was born with a cleft palette that went undiagnosed for 7 months. It was then treated as an individual issue and not seen as a symptom of 22Q.
Photo: Eloise Lee, diagnosed with 22Q at 10 months old.
This is often the case as there are 180 possible symptoms, but each individual could have different symptoms depending on which genes are missing.
The symptoms include but are not limited to:
– Congenital Heart Disease (a range of birth defects that affect the heart)
– Growth delays
– Cleft palette (resulting in feeding problems)
– Breathing difficulties
– Immune deficiencies
– Kidney problems
– Skeletal anomalies
– Speech, developmental and cognitive delays
– Anxiety disorders
This is just a few of many possible combinations of symptoms that come with 22Q. Each individual can be completely different which can make it harder to notice and diagnose.
For more information or support on 22Q11.2 Deletion Syndrome, you can go to; Max Appeal, 22q.org , 22q family foundation or follow support pages on facebook; 22q awareness days. You can read more about the Cardiff ECHO study here and follow Eloise’s 22q adventure on facebook.