Sofia’s Story Living with PPP2R5D
You are not alone because you are not only helping your own kid (by participating in research) but also helping many other kids that could have the same disease. This gives us HOPE.Karina, parent of Sofia, an 8-year-old with PPP2R5D
What is your family like?
Sofia has a brother, her mom, and her dad. We live in Argentina.
What do you do for fun?
We like to take care of our children, particularly Sofia.
Tell us about the biggest hardship you face.
Sofia still does not speak and she is using a communication device. Sometimes it is very hard not to know what is going on in her head, why she cries, and why she shakes when she goes to sleep. We thought this was a seizure but apparently is it a sleeping disorder…
What motivates you to participate in research?
You are not alone because you are not only helping your own kid but also helping many other kids that could have the same disease. This gives us HOPE.
How do you feel you are helping Simons Searchlight learn more about rare genetic changes?
I always try to complete as much as I can to let them have all the information that they might need.
What is one question you wish researchers could answer about this genetic change?
Is my daughter really going to have a better life? Sometimes I am also afraid of having hope because it is not easy to participate in new experiments and there might be unforeseen consequences.
What have you learned about your or your child’s genetic condition from other families?
EVERYTHING! Families that live with symptoms and particular situations related to PPP2R5D make life easier by sharing their experiences and techniques they have tried.
If you could give one piece of advice to someone recently diagnosed with the genetic change in your family, what would it be?
Finding a diagnosis is hard but your child is always the same. He or she won’t change because you have a new label. When you need, you can cry. When you are ready, you can accept the diagnosis and try to help those organizations that are trying to support your kid.
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