Oct. 5, 2021
Posted by Rohan Narayanan
I have been diagnosed with a rare chronic genetic disease called partial trisomy 8Q duplication syndrome since birth and I was also recently diagnosed with hidradenitis suppurativa (HS). My life has been full of challenges, and I want to bring awareness to what I go through so that anyone else struggling can find comfort and support in my story.
My genetic disease affects my growth stature and causes me to have some facial abnormalities. It is a complex condition that also affects my brain functions and causes me to be handicapped and struggle daily. Additionally, at two years old, I had to have emergency surgery on my lung due to a ring defect as a result of my condition.
I am thankful that my HS is on the mild side of the spectrum, and as I get older, I hope that it does not worsen. I will keep my head held high and be strong, as I have gone through challenges with not only my body, but with friends who do not support me through my struggle with rare disease. There are no current cures for my medical conditions, although I hope someday that will change.
Having rare chronic medical conditions, scoliosis, mental health disorders and other disabilities have hugely impacted me. I have learned to never give up and I am very inspired by music. Having my diagnosis has been an overwhelming and difficult journey, and I struggle to find helpful resources and a strong treatment plan. I wanted to share my story and bring awareness to my diagnosis so that others who are going through the same thing do not have to feel alone.
The National Organization for Rare Disorders (NORD) is committed to telling the stories of patients and families with rare or undiagnosed diseases and helping them live their best rare lives. If you would like to share your story, contact NORD here.