Tell us about Maeve’s diagnosis.
Potocki Lupski Syndrome
Could you please describe your feelings when you received Maeve’s diagnosis?
Maeve was diagnosed when she was just about to turn 3. I was angry, and felt guilty, and had to grieve for the family and child that I thought we had when she was a baby. She had shown signs of mild issues but the diagnosis closed the door on hope - at least for awhile.
At her age - learning is her biggest issue but she also continues to struggle with normalizing her speech, with being less capable physically than her typical peers, and she isn't able to connect socially with many kids at her high school
What Difficulties does Maeve face?
What are your worries / thoughts for the future?
Maeve is very capable and doing a lot of things we had feared she would never be able to do, but she won't be able to earn an income that would allow her to live in a way we would have hoped for her. So the biggest fears are financially how do we set her up to be comfortable for her lifetime (beyond ours) and second, who will watch out for her. She is very trusting and therefore vulnerable to those with ill intentions.
What kind of things does Maeve enjoy doing?
Maeve loves being with her friends, playing Roblox and similar games, riding horses, singing, and she really loves school.
Why is research & a potential treatment for PTLS important to you & your family?
Maeve asks all the time about PTLS and asks, rhetorically, if you could fix it, you would right? She says she hates having special needs and she would do anything to remove the learning issues that challenge her.
Anything else you would like to add?
Maeve is doing great things despite her challenges. When we met Dr Potocki, she said, they don't have a lot of information about kids like Maeve because there haven't been super difficult challenges or illnesses. While the diagnosis, changes your life. Maybe parents would take comfort in hearing about the more capable/milder cases.