Nora

Age: 6

Duplication: 46XX,der(8),t(4;8)(p16.1;p23.1) de novo

Lives in : Kalamazoo, Michigan, USA

Nora was diagnosed with a chromosome disorder before she was born. Our doctor ordered the testing "just to be safe" after some abnormal ultrasound findings. The results came back, the genetic counselor gave us a little pamphlet about chromosomes and that was that. We waited for her arrival.

The remaining weeks of my pregnancy I scoured the 2008 internet for information and was able to find only slightly more than the genetic counselor shared with us. Nora arrived 6 weeks early.

After a month in the NICU, Nora came home and life was a lot like most babies, things just happened later. She sat up and crawled a few months late, she walked around age 2.

At age 6 today she is still working on communication and potty training. She can run and jump, and has signature dance moves. She loves music, books and her iPad. She enjoys puzzles, her doll house, Peppa Pig and Paw Patrol. She may not be able tell you what she did at school that day, but she can sing all the words to "Twinkle Twinkle Little Star".

(If you are having trouble viewing videos below try opening in chrome and updating your flash player)

Nora's medical difficulties are primarily neurological including seizures and hydrocephalus. She has had two brain surgeries, the last one to get a shunt placed in her brain to drain spinal fluid into her abdomen. Her seizures are currently under control with drugs, but the side effects of the drugs are tough. She wears braces on her legs to help normalize her gait and needs help focusing her attention.

Nora is in Kindergarten this year. For her, Kindergarten is at a school for kids with special needs. She rides the bus every day and is in a class with about 10 other lower elementary aged kids and 4 or 5 adults. At school she enjoys Art and Music and also gets all of her Speech, OT and PT on site. There is even a swimming once a week. This is her first year in school full day, but she has been receiving early intervention services since she got home from the NICU - in our home a couple times a week for the first three years, then in various special needs preschool classrooms.

  
When Nora was first diagnosed we did not know any other families with similar disorders. Now, through a combination of increased availability and accuracy of genetic testing around the world and access to other families through social media it seems like the number of other cases is growing each day. I am grateful for the group of 4p families that I have met online. If you are a family with a new diagnosis who came across this during a 3 am google search looking for answers, just remember that no matter what the chromosomes, your kid is unique.