By: Lisa, Parent of Liam, a 9 year old with a PPP2R5D genetic change
“Liam has taught me more on life than anything else, let your child teach you.”
What is your child’s relationship like with his/her siblings?
Liam adores his older sister, Ayiana. She’s also amazing with him, they understand each other far more than anyone else with them.
What does your family do for fun?
We recently bought a house on land with loads of hiking trails, so as of late, hiking, gardening, and star gazing.
Tell us about the biggest hardship your family faces.
The hardest part about Liam having PPP2R5D is his lack of being able to communicate, we know he has so much more to tell us then he actually can, and that’s really tough.
What about your child puts a smile on your face?
Liam loves simple things like ceiling fans, things that spin, and water….he’s delighted by any and especially if we can combined those things (our new house has a patio fan, so he has a little pool with some that spin … He’s loving it!)
What motivates you to participate in research?
We decided to participate because we wanted to help in any way we can, we know it may not help Liam, but also realize may (and we feel mist likely will) help future families.
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)?
Liam has a single gene change, sometimes I think starting smaller helps propel thinking. I mean we know about genetic changed like Down Syndrome, but that’s so much to consider given how many different genes and variations possible. With a single gene mutation, it helps to focus in on more specific medical changes.
What have you learned about your child’s condition from other families?
We have a wonderful support group on Facebook and learn for each other daily. The biggest one for us was getting Liam a small wheelchair, although he walks it’s obvious he tires easily….it wasn’t until we connected with other families that getting a chair for long outings clicked. Another family had decided to go that route and spoke about going to an amusement park and having the best time because their son enjoyed the day so much more. So we bought one, and sure enough same result, the last zoo trip his class took, they took it, and his wife (who’s been with him 5 years) was elated by the difference for him. The previous year she came back with bruises from Liam, who is self injurious and she was blocking him….needless to say she was also okay and that makes everything better. So glad for our family networking, it really has helped our quality of life.
If you could give one piece of advice to someone recently diagnosed with the genetic change in your family, what would it be?
Breathe, learn about special needs grieving. It’s a reality, but you’ll be better equipped if you know the cycle.
What is one question you wish researchers could answer about your child’s genetic change?
Why did Liam need heart surgery but none of his PPP2R5D peers?
Is there anything else you would like to share with other families?
Liam has taught me more on life than anything else, let your child teach you.