The story of Celyna
My name is Celyna, and I am from Natal, Rio Grande do Norte, Brazil. I have been diagnosed with hereditary spastic paraparesis subtype SPG4.
My symptoms started in childhood, but I was not correctly diagnosed until I was 26 years old. Because misdiagnosis often occurs for many rare diseases, my disease was not initially diagnosed correctly. The incorrect diagnoses were as diverse as psychological issues and cerebral palsy. Eventually, I met a physician who recognized the symptoms and made a correct diagnosis. I was properly diagnosed with SPG4 through DNA testing after I participated in hereditary spastic paraparesis (HSP) studies in hospital universities in both Brazil and the United States.
Before the DNA testing, I received my first HSP diagnosis in 2009. Seeing the term “neurodegenerative disease” in the diagnoses was unsettling. I knew that my symptoms were getting worse, but I could not initially embrace this reality.
A major reason for my fear and uncertainty was a lack of information about my disease. Being from Brazil, I first looked for information in Portuguese. All the information I was able to find was vague and of little help. After some frustration, I tried to research in English, and I found the Spastic Paraplegia Foundation website, www.sp-foundation.org, where I began to gain more accurate information about HSP.
The Spastic Paraplegia Foundation served as an inspiration to create a group in Brazil where people with HSP and their relatives could find both information and emotional support. Naturally, I did not create this group alone; I was part of a team of several highly motivated people. The organization, called the Association of Hereditary Spastic Paraplegia from Brazil (ASPEH-Brasil) was founded in 2017. In December 2020, the organization name changed to ASPEC-Brasil (https://www.aspecbrasil.org.br/), because we expanded our scope to include four other diseases with spastic paraplegia symptoms: stiff-person syndrome, primary lateral sclerosis, Sjogren Larson syndrome, and tropical spastic paraplegia. These five diseases have common presentations of weakness and stiffness in the legs. Currently, no cures are available for these diseases, but treatments including muscle relaxants, botulism toxin, and physiotherapy can improve quality of life for people with these diseases.
Despite all my difficulties, I did not give up on my dreams. I graduated with an undergraduate degree in chemistry and received a master’s degree in chemical engineering from the Federal University of Rio Grande do Norte (UFRN), Brazil. I received a doctorate in chemical engineering from the University of São Paulo (USP), Brazil, and a fellowship at the University of Texas at Arlington. I currently work as a chemistry professor at Tarleton State University in Texas, United States. Since 2016, I have lived in Texas with my husband and stepson (an Army soldier stationed in Texas).
Currently, I walk with the help of a cane and braces. I do physiotherapy, equine therapy, and Pilates. I also balance my therapy time with work, family commitments, and serving as vice president and medical-scientific board director of ASPEC-Brasil and as co-ambassador in Texas for the Spastic Paraplegia Foundation.
It is an honor to be a volunteer and to work in teams at the Spastic Paraplegia Foundation and ASPEC-Brasil to raise awareness about rare diseases, provide emotional support, and acquire funding for research seeking cures for spastic paraplegia related diseases.