Rylan -Dup15q Family Story

June 1, 2020

Rylan Elizabeth was born 4 weeks early via C-section on December 13, 2011. I struggled with pre-eclampsia and it was best to deliver early. Rylan was just 5lbs 4oz and stunningly beautiful. She struggled to nurse and lost quite a bit of weight before we even left the hospital. We brought our sweet bundle home ready to take on parenthood. The first few weeks were wonderful with the exception of struggling to nurse. When Rylan was about 1 month old she started to cry, a lot. All the time, day, night, she wouldn’t sleep for more than 8 hours in a 24-hour period. She hit 3 months and wasn’t meeting her milestones, then 6 months and still hadn’t met her 3-month milestones. We called in early intervention for services but she didn’t quite qualify. We had tests after tests and doctors rationalized she was delayed from being born early, lack of sleep, and colic. At a year she just started crawling, finally stopped crying and smiled for the first time.  We called in early intervention again and Rylan finally qualified for PT and OT services.

As Rylan grew we continued to see her delays, the gap between her actual age and developmental age continued to widen. We went to so many doctors… countless EEGs, MRIs, blood work, nuero appointment and no one could give us an answer.

 

December of 2014, Pittsburgh Children’s drew blood for genetic testing. May of 2015, we got the call that she had an extra chromosome 15q. I was relieved, we had an answer. I did some research and found the Dup15q Alliance and watched the “Finding Out” video and cried, cried because everything these families were saying was my family. We fit and it is comforting.  After a year of taking everything in, I finally let my emotions go to grieve, to get angry. It was very freeing. Some days I still cry but most days we smile and laugh.

Rylan 6.16.20We went to our first Dup15q Alliance conference in 2016. It was truly a turning point for our family. We made so many connections with families, created a support system of those who have walked this path before us. I started volunteering for the Dup15q Alliance and getting involved as much as I could.  I wanted to know everything! One thing I have learned is that while all of our children are similar in many ways, each are unique in their development and journey.

Rylan is now 11 years old.  She attends an Autism Support Classroom for the majority of her school day. She can still have an unsteady walk but can run like the wind! She is completely unaware of dangers and has a high pain tolerance which can make teaching safety rules impossible. She struggles with anxiety, sensory processing disorder and GI Issues.  She is verbal but limited in communication skills.  Rylan is the light of our world, she has the sweetest heart, loves animals, music and snuggles, She is determined and works hard for every skill she has.

Rylan has absolutely changed our path and our view of the world. This little light of mine, I’m going to let her shine.

 

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