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Sparking Conversation: Nick’s Story in Honor of Rare Disease Day

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I’m a patient who has had an interesting history stemming from a neonatal stroke. I was born with a neonatal stroke that caused concerns for microcephaly, I was growth restricted, had an undescended testicle, two small holes in the heart which healed without treatment, ocular blurring, and laryngomalacia. I believed that partial truth until recently, when I was diagnosed through a radiology exam as having, amongst other findings, a porencephalic cyst. 

When I was a child, I was bullied heavily for being different from everyone else. We moved once to get away from it, and again after I graduated high school with honors, despite my math deficit. I have been wanting to know the truth about my stroke ever since graduating high school. In 2021, we underwent genetic testing. This testing resulted in finding out that my mom and I are carriers for CEP290. My dad and I have a chromosomal duplication that is unheard of, called 4p31.3-32.1 duplication syndrome. The latter is of unknown significance. 

I have had eye, coordination, and left arm challenges for as long as I can remember. I recently developed a posture lean that no one can seem to diagnose properly, everything from FND to thoracic kyphosis, to encephalopathy. I saw a chiropractor for a pinched nerve that did go away but gave me a piece of its mind with digestive upset and a posture lean. My theory is that it is a sensory symptom due to the cyst in the brain affecting the somatosensory system. We sadly won’t know the full story until I see a neurologist, but I’m confident my story will spark some conversation amongst the community.   

I want to connect with others who have a porencephalic cyst and other rare cephalic disorders, as well as raise awareness for my oldest cousin, Chris, who also has a cyst in his brain. It affects his speech and auditory processing. I want to help other people with other rare conditions to benefit them in whatever way I can.   

One of the biggest challenges that those outside of the rare disease community may not know of would be getting diagnosed properly. I can’t stress how important this is. It is so challenging to find a specialist who knows the ins and outs of what some of these people have to go through. I know people who are struggling to find the right diagnosis so they can gain access to proper treatment. I also know that most rare conditions are not curable, but we can fight to be understood by the public, and we can open the doors to new therapies that are currently being developed.   

To me, health equity, the theme of Rare Disease Day 2023, means treating everyone how you would like to be treated regardless of looks or condition. I have a posture condition due to a possible sensory issue involving my cyst, so if you see the “leaning tower of Pisa,” it’s okay to say hi, I don’t bite!   

This year, I am celebrating Rare Disease Day by posting my story titled, “Alone I’m rare, but with unity we fight for tomorrow to be understood!” I’ll also be talking to other people through rareconnect.org about the conditions and challenges that they face in day-to-day life living with a rare disease.