The Shacklock-Aylings’ Journey with 7q11.23 Duplication Syndrome

What is your family like?

I’m a single mother of Lucy (4yrs) and Will (7ys). Lucy was diagnosed with 7q11.34 duplication syndrome at the age of 2.5yrs after we noticed some gross motor and speech delays. We are a close, loving family who value health and happiness, and spending time together.

What do you do for fun?

We live in Queensland, Australia and we love getting outdoors and enjoying the sunshine. We enjoy going to parks and beaches, swimming, hiking, having picnics and spending time with our family and friends. We also love music and can often be found playing the piano or dancing around the house to music. Lucy is very creative and loves to draw and paint.

Tell us about the biggest hardship you face.

It’s very difficult to fit in all of Lucy’s health appointments and therapies with full-time work. Healthcare is also very expensive because what we need is so specialised, so it costs quite a lot for her to see specialists and doctors. It’s a constant balancing act to make sure she has the support that she needs to be happy and healthy.

What motivates you to participate in research? How has participating in research been helpful for you?

I want to learn more about the syndrome and any new research insights that become available. I also want to hear about other people’s experiences with the syndrome and learn from them.

How do you feel you are helping Simons Searchlight learn more about rare genetic changes?

Hopefully by sharing Lucy’s specific experience, this will add to the information currently available for newly diagnosed people.

What is one question you wish researchers could answer about this genetic change?

I wish we had more stories of the lifelong experiences of people with this syndrome. Lucy seems to have some of the symptoms but not all of them. For example, she has a heart condition that I would love to know more about so that we can ensure she remains healthy and strong.

What have you learned about your or your child’s genetic condition from other families?

That the symptoms and experiences seem to be incredibly varied from extreme to barely noticeable, and how rare it is! There doesn’t seem to be any or many families in Australia who have this exact diagnosis.

If you could give one piece of advice to someone recently diagnosed with the genetic change in your family, what would it be?

See a Genetic Specialist with experience in chromosomal duplications – that was really helpful for us to understand and navigate the diagnosis. I also wish that our healthcare professionals had considered chromosomal changes in her initial health investigations – her paediatrician finally requested the testing after all other options were exhausted.

How has Simons Searchlight served as a resource for you and your family?

It is the most comprehensive information that I have been able to find about this diagnosis, especially all of the documentation. I also appreciate the regular updated reporting and research insights. I’m so glad that there is research being undertaken about this syndrome so that we can ensure that Lucy has the best possible chance of a happy and healthy life.