When I was two, I was diagnosed with a genetic disorder called asphyxiating thoracic dystrophy, or Jeune syndrome, which is a rare genetic disorder that causes short stature, short arms and legs, a small chest cavity, and can cause kidney problems. When I was three, I had open heart surgery due to a mitral valve insufficiency that was unrelated to Jeune syndrome. Then when I was ten I had spinal fusion surgery because of scoliosis, which the doctors also said was not associated with the disorder. In 2009, when I was thirteen, I went on dialysis due to rapid kidney failure that was directly caused by Jeune syndrome. Fortunately, I was not on dialysis for too long because my aunt donated her kidney to me. I had the transplant at Lucile Packard Children's Hospital, and I am so grateful for the wonderful doctors there, and extremely grateful for my wonderful aunt.
When I was diagnosed with Jeune syndrome, my mom and dad were told by the doctors that most kids die at a young age from complications of pneumonia due to a small chest cavity. Because of this information, my mom didn't know how long I would live. Today I am seventeen years old and living a normal life, with only one exception: having a short stature of 4'6".
I am writing this blog in hopes of finding other young adults with the disorder to connect with and share our stories, but I am also writing this blog to put forth a message from the experiential lessons I have learned through my journey. I have learned to be respectful and conscious of how I treat other humans due to encounters in everyday life with people that aren't sure how to respond to a very small girl who is getting gas at the gas station.
Thank you for reading my first blog post, and I hope that you continue to read my future posts. Most importantly, please comment or email me at jeunegal1@gmail.com. I would love to hear from you and connect with other people who have Jeune syndrome.
