Living with a Rare Disease

My name is Saida Mahoney and I am 24 years old. I’m a full-time college student and proud to be a performing arts major – I love music, I love dancing, and I love theater. My goal is to continue my performing arts studies and have a professional career in music, dance, and theater. I was recently crowned Miss Queen at the 2021 Spring California Miss Amazing pageant, and I am starting my journey as an athlete with the Special Olympics of Northern California. I love to play sports, and I am part of the Girl Scouts, BSA and Aktion Club.

I am particularly proud of these achievements because my life has challenges, and I wanted to share my story to bring awareness for others who are diagnosed with rare diseases and disabilities, as well. I hope that anyone who may be struggling with any medical conditions or disabilities can find comfort and support in reading my story.

I was born with a rare chronic congenital genetic disease called Partial Trisomy of 8q, partial 8q duplication (also called Partial Duplication of 8q). It is a chromosomal duplication disorder that I was diagnosed with as a baby. My chromosome 8 has an extra copy of some information and effects my height and growth and caused delays in my ability to walk and talk when I was a little girl. This rare disease has caused me to be both physically and mentally handicapped. When I was 2 years old, I had to have emergency surgery on my lung as a result of my genetic condition and the anomalies that I was born with – if I hadn’t gotten the surgery, I would have died. My condition is a complex genetic disease and a neurodevelopmental disability. It affects my brain function and causes me to have numerous difficulties and challenges in life and causes me to struggle on a daily basis.

I have also been diagnosed with another rare chronic disease called Hidradenitis Suppurativa (HS), which is a rare chronic illness. I am undergoing different treatment plans and I have been in the hospital lots of times due to my disease. Having HS is a very overwhelming condition to have. My HS has caused me to have pain and discomfort where I had to go to the hospital to get help. As part of the disease, I will have painful cysts and scars and I have been having so much pain, bleeding and swelling and discomfort. While it was initially Stage 1 (mild), it has recently progressed and is now a Stage 2 (moderate) disease.

In addition to the two rare conditions, I was also diagnosed with scoliosis, and Tourette syndrome, a neurological disorder that causes vocal and motor tics.

Why I Share My Story

Due to my medical conditions, I have experienced so much bullying and lost many, many friends. I have struggled with social anxiety and experienced mental health disorders, such as post-traumatic stress disorder (PTSD), generalized anxiety disorder (GAD) and major depressive disorder (MDD), caused by the severe bullying and abuse I have experienced because of my medical conditions. The emotional pain has been more than I could handle at times, and it has been very challenging and overwhelming.

But I am a survivor. I have learned how to keep my head held high and keep fighting. I will stay strong and never give up. I am thankful that I have survived all my physical and mental health challenges and that I have been able to get help when I needed it most.

I am also thankful for music. So many artists and bands and their songs have motivated me to stay strong and inspired me to raise my voice and follow my dreams. They are the reason I joined choir in high school, and why I discovered my love of theater and dance – the reason I am now a performing arts major.

I am fortunate to have strong allies on my medical team to help me with treatment for my various conditions as well as helping me access resources at school. And I am truly thankful for my wonderful friends for their love, unconditional support and guidance and for helping me smile when I’m in the hospital or going through other things – they accept me for who I am and what I am going through, and I am so thankful.

I wanted to share my story and bring awareness to my diagnoses so that others who are going through the same thing and struggling with multiple diseases and disabilities don’t have to feel alone or overwhelmed. I want to keep shining a light for everyone who may be dealing with challenges, and I hope you will spread love and kindness in the world and do your part to help make this world a better place for those who are struggling with chronic medical conditions and disabilities.

Much love, Saida


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