Julia and Erin's Story: Down Syndrome Regression Disorder

Written by: Julia O'Donnell

My name is Julia O’Donnell and I'm 18 years old. I am a freshman at the University of Rhode Island studying Communicative Disorders in hope to graduate with my masters degree and become a speech language pathologist. I have a younger sister, Erin, who has Down syndrome. She is 17 years old. We live with our younger sister Molly, our parents, Brennan and Kathleen, and our dog Finn. Erin and I are just 15 months apart! Growing up we were always very close and loved to play together. As I got older I became more involved with friends, school, and sports. At this point, Molly was around 5 years old and her relationship with Erin began to flourish as they were at a similar stage in life. Like me, Molly eventually went on to spend more time with friends and play sports. Erin lacked social skills that a typical kid her age would have, which made it hard for her to keep up with us. Despite this, she did karate for ten years, achieving her black belt, she loves to swim, and played unified basketball at our high school.

Some of my favorite memories with Erin are when she is singing and dancing. Sometimes on a Saturday morning I come downstairs and she is blasting Just Dance on the TV and dancing along. Erin and I love to sing together. Ever since I got my license, we drive around with the windows down and sing One Direction at the top of our lungs. Erin is not afraid of anything! When we were little we had to get our flu shots together and she always went first. She was so brave and didn’t even flinch! I was scared and would cry every time. Erin held my hand while I sat on the table and got my shot. Everyone knows that Erin loves to eat anything and everything. She is always up for trying new foods. Even at 18 years old there are still foods that I am picky about, but Erin will eat anything that is put in front of her and love it, especially chocolate!

Having a sister with Down syndrome has really changed my perspective on life. Without knowing it, Erin has taught me so many lessons that I will always carry with me. She taught me the importance of being kind to everyone. I do my best to be kind to everyone I see because you don’t always know what someone else is going through. From a young age I learned the significance of patience. Individuals with Down Syndrome process things much slower than a typical person. Erin does everything at a very slow pace. It can be frustrating to wait for her to get ready in the morning, walk to the car, or finish her dinner. I have learned to embrace this and try to go with the flow. Erin goes through life without caring what other people think. This is something that I am still trying to learn myself. When I was young, Erin would have tantrums in public places and I used to get embarrassed about her making a scene, like many other siblings of someone with special needs. While she has gotten better at this, I learned to not be embarrassed about who I am or who she is.

Most places we go with Erin, especially when she was younger, people always comment on how cute she is and how fun it must be to have a sister/child with Down syndrome. While this is true for many, this wasn’t always the case for Erin. Erin was recently diagnosed with Down syndrome Regression Disorder. DSRD is a rare but serious disorder that occurs in some adolescents and young adults with Down syndrome. Some symptoms that Erin has experienced are a cognitive decline, insomnia, altered mental status and behavioral dysregulation. My parents began to notice a rapid decline in her behavior at the beginning of September. Erin was not eating like she normally does, had frequent accidents, and was disassociating from everyone at home. She had a constant internal dialogue that increased overtime to the point where most of her conversations happened in her head. Based on the advice of Erin’s psychiatrist and primary care physician, my parents brought her to the emergency room later that month. Erin was finally admitted to Boston Children’s Hospital after a long day of waiting. At the hospital she was closely monitored by many teams of doctors and nurses who took amazing care of her. Being at college two hours away from Erin was very difficult for me. I have been through everything with Erin for her whole life, so to see my parents and Erin going through this while I was not there was very hard to deal with. It comforted me to know that Erin was at a hospital with the best doctors in the country. I was lucky enough to be able to facetime her almost everyday, and I even got to visit her! This situation was definitely tough on my whole family. My parents had to drive an hour into Boston each day, as they took turns staying with her overnight. They attended countless meetings with doctors and were constantly researching new ideas and treatment options to present to Erin’s team. My parents are as amazing as they get and I give them all the credit in the world for taking care of my sister through all the ups and downs of her life. As of now, Erin is going through IVIG treatment. IVIG stands for Intravenous Immunoglobulin. For two days Erin gets hooked up to an IV where she waits for 4 hours while she receives antibodies extracted from blood donations. IVIG is a highly effective treatment of DSRD so we are hoping for the best outcome!

Along with DSRD, Erin has experienced mental health issues. Mental health struggles are more common in individuals with Down syndrome. Mental health in those with Down syndrome is not talked about nearly enough. It is important to me to spread awareness about this in order to break the stigma and help other families and individuals who are going through the same thing. Erin’s mental health struggles go back to as early as 2018 but have recently become more acute which is what landed her in the hospital. My parents have struggled to find a diagnosis and help for Erin’s condition. This process took many years to get her to receive the help she really needs. About a year ago, we hired a behaviorist who has greatly helped Erin and my family. She has done a great deal of work to support us during these times. She works on behavior strategies to help our family cope with Erin’s behavioral issues. She has done a truly amazing job so far and we continue to meet with her on a weekly basis.

While this may seem like the hard truth, there is always light at the end of the tunnel. Erin has a great community where she is surrounded by many people who love her and want only the best for her. I am a strong believer that everything happens for a reason, and this is just a small bump in the road of Erin’s life journey. My family and I are confident that we will continue going onwards and upwards.

Here is more information on Regression and Down syndrome https://ndss.org/resources/regression-down-syndrome

///

Thank you to Julia for sharing this wonderful story! Be sure to check out ELM's Down Syndrome Awareness Month merch to show your support of loved ones with an extra chromosome!