Gina’s Story: The long walk to a diagnosis

 In Advocacy & Awareness, Angiokeratomas, Changes in the eye, Community, Fabry Disease, Hearing problems, Impaired ability to sweat, Patient Stories, Pedigree Analysis, Stomach problems

The symptoms, now diagnosed as Fabry disease, started when my son, E, turned thirteen. The first 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 and it nagged at me when we were told that birthmarks occasionally come along later.

Shortly thereafter E 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, E started getting burning pains and tingling in his hands and feet. None of these things seemed to be related, so we were sent to many doctors, including a specialist in internal medicine.

The Internal Medicine consultant 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.” I, of course, went online to look for additional answers, entering the symptoms in one by one and separated by commas – “angiokeratoma”, “pain in hands and feet”, “GI issues”. Sadly, I found nothing.

A question on an exam paper was all it took

When E turned 18, the angiokeratoma was really starting to bother him so 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.

In the end, it was a relief to finally get a name for the thing I’d been watching my son suffer through for five years and numerous consultants. Once it has a name, you can connect with others who are going through the same thing and share information, experiences and support.

That also means you’re then followed by the proper professionals and thankfully treatment is available. E 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.

Knowing that Fabry disease is genetic, I was also tested as part of E’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’s may be part of what we have to deal with on a daily basis, but it’s not who we are.

Fabry Symptoms

As noted in Gina’s story, a wide range of signs and symptoms are associated with Fabry disease.

Find out more here:

Disclaimer: The views expressed in this post do not necessarily reflect the views of Shire

The post Gina’s Story: The long walk to a diagnosis appeared first on Rare2Aware.

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