ARFGEF-1: Neurodevelopmental Spectrum Disorder

I grew up feeling different. I was told I never felt pain, yet I seemed to know when I was hurt. The grown-ups thought I was lying when I said I was injured, to the point that I danced on a broken foot for hours over two days before finally getting it looked at. During that time, I also had a dislocated finger.

Struggles in school and social life

I struggled in school, occasionally being told that I was stupid. I was socially awkward and found it difficult to make and keep friends, except for those who were required to be around me and learned to tolerate me as a friend. As I grew older, I began to feel pain more often, but overall it felt more like pressure. This turned out to be fibromyalgia, which has worsened over time. I also discovered that I had mental health struggles.

Motherhood and advocacy

I went on to have two kids, fighting every day to be heard. Eventually, I found someone who listened, leading to my son being diagnosed with childhood apraxia of speech, dyspraxia, sensory issues, and anxiety. It was realized that I likely had a coordination disorder, given that I used to fall over just by standing.

My son's health journey

My son, with his rare disorders and severe recurrent constipation, finally convinced doctors to run scans. They determined that his lab results weren’t terrible, so they could no longer attribute his issues solely to his eating habits. They conducted a genetics test, telling me they would reference my DNA to see if anything that came back positive was inherited.

Discovering genetic connections

It turned out he has a genetic disorder that explains all his health issues, including hypermobile Ehlers-Danlos syndrome, likely due to his joint laxity and hypotonia. They compared his results with mine and discovered that I also have this disorder, which explains my health struggles. This prompted testing for my daughter, sister, and nephew, and we all tested positive. We found out that our health issues are likely related to this gene.

The rare gene mutation

We learned that the gene is believed to affect fewer than 100 people worldwide. The gene mutation is ARFGEF-1: neurodevelopmental spectrum disorder. Although we have known about this for less than a year, we still struggle. We often encounter doctors who say they’ve never heard of it and dismiss us entirely. As a result, we are always educating others about our disorder, since no one seems to know about it.