Before Gina’s son was diagnosed with Fabry disease at the age of 18 neither of them had ever heard of the condition. Nor had any of the doctors they visited. Here Gina shares their journey to diagnosis, and how a chance question on an exam paper led to answers.
The symptoms – now diagnosed as Fabry disease – started when my son turned 13. The first symptom was a small spot on his hip that our dermatologist referred to as an angiokeratoma, or birthmark. That didn’t sit right with me. As his mother, present for his birth and every day after, I can tell you that this spot was new. It nagged at me when we were told that birthmarks occasionally come along later.
Shortly afterwards, my son started experiencing severe diarrhoea. He’d be fine one moment then, out of nowhere, he’d need a bathroom immediately. It became difficult for him to count on going anywhere. There were accidents and the embarrassment and anxiety were almost as bad as the illness itself.
Around the same time, he started getting burning pains and tingling in his hands and feet. None of these things seemed to be related. We were sent to many doctors, including a specialist in internal medicine who said: “I don’t know what’s going on here but it would be best if you came when you were having a flare-up.”
Of course, I went online to look for additional answers. I tried entering the symptoms in one by one, separated by commas: “Angiokeratoma”, “pain in hands and feet”, “gastrointestinal issues”. I found nothing.
When my son turned 18, the angiokeratoma was really starting to bother him. Our local GP in Hamilton referred us to a dermatologist so it could be lasered off. I asked if we could see a dermatologist that was newly out of school, someone who may have answers based on a more recent education.
That dermatologist changed my son’s life. He looked at the angiokeratomas, recorded a brief health history and took the time to ask about my son’s other symptoms. Within minutes he said: “Hang on a second, I need to talk to your mum in the next room.”
That dermatologist was the first person to put the pieces together. He shared his suspicion of Fabry disease, along with a recommendation to see a number of different consultants including a geneticist.
I don’t think it’s something we would have considered otherwise. My son got his diagnosis because the dermatologist examining him happened to have a question on his medical exam about it. That kind of representation for a rare disease is so important.
In the end, it was a relief to finally get a name for the thing I’d been watching my son go through for five years. Once it has a name, you can connect with others who are going through the same thing and share information, experiences and support.
Knowing that Fabry disease is genetic, I was also tested as part of my son’s diagnosis journey. Even though I had not shown any significant symptoms, I tested positive. I suspect other members of my family will test positive as well and that’s a path we’re still on today. It’s not been easy but we’re moving in the right direction.
My son doesn’t see himself as a sick person, neither do I. Fabry may be part of what we have to deal with on a daily basis, but it’s not who we are.
There’s lots more to tell you about Gina’s and her son’s condition:
Parent to: Her son who is living with Fabry disease.
Location: Ontario, Canada
First signs & symptoms: A small spot on her son’s hip, aged 13.
Diagnosed: Gina’s son was diagnosed by a dermatologist at the age of 18.
To learn more about Gina’s rare disease, please visit:
Everyone living with a rare disease has a story to tell. Whether it affects you directly or you’re a friend, colleague, family member or healthcare professional, we all have our own challenges and ways with dealing with them.