The story of Antoinette
Below is what I shared on my Instagram this year for Rare Disease Day 2022:
I am writing on behalf of my sister, Jennifer (May 14th, 1999-August 17th, 2010)
The day Jenny was born, May 14th, 1999, was one of the best days of my life. I was born in March 1993 and all I wanted was a sibling to share everything with. Seeing her through the window at the hospital gave me great excitement that I remember the feeling to this day. We brought Jenny home and started our lives together. A few months later, Jenny had her first seizure. With much panic and worry, my parents they called 911. Within what felt like seconds, I looked out of my front window and saw police cars, an ambulance, and a fire truck. They all came storming through the front door. As they came in, I was slowly getting pushed out of the door by the crowd. Outside my house, all my neighbors were present, staring at me with fear. This was the first time I experienced a panic attack. I was alone, lost in confusion, fearful, and full of sadness. I just wanted my little sister to be ok. Soon after, my parents, Jenny, and the EMTs came running out of the front door and rushed her to the hospital.
After many medical tests, Jenny was diagnosed with Miller-Dieker syndrome (MDS), which is a subdivision under Lissencephaly. The National Organization for Rare Disease defines MDS as follows: “MDS is a genetic condition characterized by a specific brain malformation (lissencephaly); distinctive facial features; and severe neurologic abnormalities including intellectual disability and seizures. Very few affected children survive beyond childhood. MDS is caused by a deletion (missing piece) of genetic material on the short arm of chromosome 17 (17p).” This means that Jenny was born with a smooth brain. So, she would not be able to talk, walk, and feed herself. After Jenny’s diagnosis, our lives changed forever.
Now, what I am about to say next is very important, and if you read any part of this, I hope it’s this part: Jenny lived with a rare disease but it did not define her. It did not and does not change the way my family and I love her. She was still my sister I shared everything with, she was still a daughter to my parents who gave her absolutely everything she needed to be as comfortable and happy as possible, and she was still an incredible older sister to our little brother, Joey, who was born in June 2001. I believe Jenny brought us closer as a family. She opened our eyes and hearts to what is important in life, led us to meet some incredible people, and gave us experiences that we wouldn’t trade for the world. Jenny needed a lot of support from our family, doctors, nurses, and physical therapists. Her pediatrician, is one of the greatest doctors I have ever had the pleasure of knowing. It was all worth it. Everything was worth it. If you ask anyone in my family about Jenny, they only have wonderful and beautiful stories to share about her. She was and still is today the light in our hearts. She motivates us every day to keep going like she did. To never give up and never let anyone or anything stop us from living our greatest, most authentic life.
Children and adults who live with a rare disease are just like you. They just want to feel loved, live a great life, and enjoy every experience that comes their way. They do not want to feel defined by their disease. 300 million worldwide are living with a rare disease and I stand by them! Together we can make a difference. Jenny made a difference and I will too!