Natalie was recently diagnosed with CHARGE syndrome as an adult and describes her journey to diagnosis, and how her life has changed as a result.
I was adopted at birth, before having any surgeries, and transferred to a different hospital from where I was born. Aside from all the complications, there were some major things that today would stand out, but at the time did not appear as the condition that they found.
As preteens we are told to look for signs. Check for these clues of puberty, as young girls and boys go through changes to become women and men. As I was heading into middle school, I noticed I had a lack in similar changes to other girls. Through my years, like many, I struggled with hearing and sight issues, balance, stability, eating, and swallowing. My body was not working in the way I knew it was supposed to.
During school, I struggled with the trauma of bullies, which led to me transferring schools multiple times. As a teenager, I started to have a lot of anxiety and depression. I noticed that I wasn’t like the other girls my age. As time went on, I got more and more depressed and I decided that I was done not knowing why I was different. I needed answers and I was going to find them no matter how long it took!
For a year I had testing with genetics and an endocrinologist, who found out about Empty Sella syndrome, but it took moving down three hours away a bigger facility to finally figure out that what I have is CHARGE syndrome. This journey has been a long one and still continues to open up new medical pathways. It took three years of testing to figure it all out. It took time and energy and lots of appointments. Finding out about CHARGE syndrome, has brought me clarity, as it has taught me that I am not as alone as I have thought in the past.
Even though I would have many people around me, there were always those moments that I felt alone and isolated from everyone else. Growing up, I was always told to toughen up, or just to take a nap and I’ll feel better, dismissing my complaints, wants, and needs. Receiving my diagnosis and finding the CHARGE community has truly opened up a new perspective for me and I hope to inspire others as well. There is always hope. Once I found out about my condition, I looked into groups on Facebook, and came upon adult groups. Now I have amazing friends with lots of support. Just recently I found out that there are two families with children with CHARGE who live right here in my town. I am thankful to the group for connecting me with other people with CHARGE syndrome – it has helped me not to feel as alone in this world.
A message to other adults with CHARGE: We’re different than others, but together we’re all the same. And a message to parents whose children have CHARGE: Let this give you hope for your child’s future. It may be hard now but they can still succeed in life.
