My husband Matt and I have been married for 23 years. We live in the western suburbs of Chicago with our kids Ava, Ella, and Peter and dog Hank. I have worked in labor and delivery for 20 years as a surgical technician. Matt is an employee benefits consultant and a part-time lieutenant for our local fire protection district.
Ella is our second child. From the moment I saw her I knew she had differences. I’m not sure what it was-call it mother’s intuition. She was a big baby, nearly 9 lbs, and very very sleepy those first days. I don’t recall a lot of the early days other than one day a friend came to visit and remarked that Ella was “like a rag doll”. Our GP told us that she was just “big” and seemed very healthy. Ella was 15 lbs at 2 months, so yes, she was big. She also was barely moving her arms and legs and by 3 months, hadn’t reached for toys. By 5 months she hadn’t made an effort to roll. I work in a hospital and one day I saw a free PT assessment day for kids. I signed Ella up. The PT took one look at her and said “she heads really low muscle tone, I think you should see a neurologist and get her set up with Early Intervention. We started PT, OT, Speech, and DT right away with home therapy and she made good progress. We saw neurology l, developmental Peds, and orthopedics. Lots of blood work and scans-no diagnosis. It wasn’t until Ella was 2.5 that genetics were suggested and we found her extra little piece. Ella has denovo idic 15q. It was 2006 and there wasn’t much information. This group was suggested to me by the geneticist and I made contact with a few families right away. Ella’s other diagnoses are sensory processing disorder, ADHD, and cognitive impairment. She was diagnosed with autism in middle school and had her first seizures at 16. She currently takes medicine for the seizures only and is well controlled for now. Ella is a happy 19 year old who attends Transition school where they are working with her to find a good fit for future plans. She is very social and talkative but is uniquely Ella in her interests. We love her so much and treasure our days with her, even the tough ones (though the tough ones are usually treasured in retrospect). She is a sweet young lady who is well-loved by her school, family, and community.
Our lives are full and we have made adjustments to our work lives so that one of us is the primary caregiver for Ella. Her siblings have grown so fond of her, even though it hasn’t always been easy. She is a homebody, but we gently guide her out and about to make connections. We still make a lot of accommodations and don’t do much travel, but we are hoping that we can integrate her into some of those adventures in the future. Right now we plan on Ella living with us and spending time with other exceptional adults in a fulfilling and fun program!
What is your hope for the future of your loved one? For the Dup15q community?: I hope that Ella is able to meet new people and enjoy friendships. I hope she can find some tasks that bring her joy and satisfaction. Most of all I hope she and others with Dup 15q can be happy and secure wherever they find themselves.
What advice do you have for newly diagnosed dup15q families?: My advice would be to ask questions, the be patient with medical and school professionals, to meet your child where they are and not where you think they should be, and to not “overdo” therapies. Your child (and other kids if you have them) needs a life outside of appointments and exercises. Don’t be afraid to advocate for those breaks. We cut way back when Ella was in elementary school. It was the best thing we could do for her and our family.