By: Lynn, Parent of Finnian, a 6 year old with a 1q21.1 Deletion
“Never give up, always have hope, and reach out for advice and help when you need it. Especially from other families who are going through similar experiences.”
What is your child’s relationship like with his/her siblings?
He loves his brothers but often prefers to play alone and is easily bothered by them due to sensory sensitivities. But when they do play well together it’s really great to watch!
What does your family do for fun?
Go see grandparents and friends, go to the park, hike or bike ride, go on road trips, watch movies and play board and video games at home.
Tell us about the biggest hardship your family faces.
Not knowing what some of his issues are, or how to best treat them. So much is still a mystery that it’s extremely hard to get answers to help direct his care and give him the best life possible. We also are uneasy about what his future holds and if things will ever get better. We drive to multiple therapies and appointments each week, plus our oldest son (no deletion) is autistic and has his own therapies.
What about your child puts a smile on your face?
How loving he is. He just loves everyone and is always quick to offer a smile. His innocence and sweetness makes us laugh. He’s also quite the flirt with nurses!
What motivates you to participate in research?
The hope of helping other families know what to expect. Maybe they could find answers sooner, instead of spending multiple years trying to unravel the mysteries like we have. We hope it will help researchers be able to associate what diseases may be linked to the individual genes that are deleted.
How do you feel you are impacting our understanding of the genetic changes being studied in Simons Searchlight (16p11.2, 1q21.1, or single gene changes)?
By providing symptoms and diagnoses our son has received due to 1q21.1, we hope this will help researchers know what areas or genes need more study. We hope it will lead to new research that will give us more concrete answers as to all the “whys”.
What have you learned about your child’s condition from other families?
I’ve learned far more than I ever imagined! Our Facebook group has been the best resource. So many things that were never told to us by the genetic counselor or in pamphlets have been shared by other families. We get real-time sharing of what is most common (and from a much larger pool than the small studies done) or what their doctors have found. This helps us know what to ask of our son’s doctors or what help to seek. There are several health issues I don’t recall ever reading about in deletion articles that we’re learning seem to be fairly common.
If you could give one piece of advice to someone recently diagnosed with the genetic change in your family, what would it be?
To never give up, always have hope, and reach out for advice and help when you need it. Especially from other families who are going through similar experiences.
What is one question you wish researchers could answer about your child’s genetic change?
I have more than one! Is mitochondrial disease is linked to 1q21.1 deletion? Why all the neurological issues? We have not yet figured this out and all testing comes back normal.