Living with Partial Trisomy 8q: My Journey of Strength, Advocacy, and Rare Disease Resilience
Saida Mahoney
State: California
Congressional District:
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Diseases
Bone / Muscle Disease, Genetic Disease, Heart Disease, Mental Health, Neurological Disease, Rare Disease
Issues and Challenges
Saida Mahoney has encountered: Rare / Underserved Disease, Disability, Invisible Illness, Medical Devices, Underserved Community
My Story
Over the last 27 years, I have been getting myself lots of care and help for everything that I have been dealing with so I can become a stronger advocate for myself and a stronger woman living with all of my conditions.
Last month, I went to my neurologist and my neuromuscular doctor appointments. I have struggled so much with everything due to my genetic disease; it has done so much to me growing up, from my infant years to my toddler years, all throughout my childhood years, my teenage years, and all the way up to now.
I was born with an extremely rare genetic disease called Partial Trisomy 8q Duplication Syndrome; for short, it is called Partial Trisomy 8q.
My genetic disease affects me physically, neurologically, neurodevelopmentally, cognitively, musculoskeletally, and impacts my language skills and speech. It causes me to have tremors, different forms of birth defects, and I have neuromuscular challenges. It also affects me developmentally and so much more.
I struggle with muscle weakness and stiffness, as well as uncontrolled movements, poor coordination, and I struggle with many of my motor tasks. Due to my genetic condition, I also have cerebral palsy and hypotonia.
I have dealt with everything growing up, and as I got older, it became much more challenging and harder for me.
I wear Ankle Foot Orthotic Braces (AFO Braces) to help me with my movements and more.
My genetic disease causes me to have many other disabilities, and I also have other chronic medical conditions.
I have conditions that affect me mildly, moderately, and severely as well.
In some areas, it’s all of the above.
When I was a baby and infant, I was delayed in all areas; I didn’t know how to do anything because of my genetic condition.
I will be receiving lifelong care and support from all of my hospitals and clinics.
I am involved with many support programs and groups.
I am thankful and grateful to have care for everything while I am still young.
I have learned how to advocate as strongly as I can while living with all of my chronic disabilities, my chronic medical conditions, and my other rare diseases.
I am determined to live my life full of strength, power, happiness, joy, and excitement.
I am using all of my strength and my experiences to help others everywhere.
I have my moments where I will go a few days in tears, but I get myself back up again and fight harder than ever.
I am thankful for all of my wonderful medical providers.
I am thankful for my speech therapists.
I am thankful for my occupational therapist.
I am thankful for my physical therapists.
I am thankful for my neurologist.
I am thankful for my medical genetics doctor.
I am thankful for my neurogenetics doctor.
I am thankful for my neuromuscular doctor.
I am thankful for my cardiologist.
I am thankful for my two wonderful primary care doctors.
I am thankful for my movement disorders neurologist and so many more of my other doctors.
I will never give up.
I am thankful and grateful for all the love and support.
I am proud to be me.
#disabledandabled
#chronicillnesswarrior
#rarediseaseawareness
#rarediseaseadvocate
#cerebralpalsyawareness
#cerebralpalsywarrior #disabledandproud
My Motivation and Inspiration
I wanted to share my story to help uplift everyone who is living with rare diseases, chronic medical conditions, chronic disabilities, and so much more.
I want to shine a light on girls and women living with numerous chronic conditions, as there are not many resources and support services for females.
I have struggled a lot to access certain support services by myself, being a female and having multiple chronic disabilities and multiple chronic medical conditions, along with my four rare diseases.
I wouldn’t want anyone to struggle the way I have over the last 27 years of my life.
I want to show everyone in this world that if I can overcome all the challenges in my life, living as an extremely complex medical patient who battles many chronic disabilities, many chronic medical conditions, and mental health conditions, as well as four rare diseases,
You have the power and the strength to do it too!!!
I am inspired by my wonderful doctors, specialty doctors, my mother, my psychiatrist, my musical idols, my beauty pageant sister queens, and my friends.
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