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RARE DISEASES

Fabry Disease

We hear from real people on the hereditary and rare condition Fabry disease.

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What is Fabry disease?

Genetic and rare, Fabry can be a life-changing disease to live with. One of the biggest challenges is that many people don’t know what this condition is. We want to change this and our first step is to tell the world what this disease is. Fabry disease is caused because a particular enzyme, which is in charge of breaking up the body’s waste substances, is missing or doesn’t work as it should. This means that these waste substances build-up and gradually harm the body’s tissues and organs.1

Because of Fabry’s rarity and wide range of symptoms, diagnosis can take a long time.2 Once Fabry is diagnosed, it can be challenging for the patient and their loved ones. But we’ve learnt from patients that diagnosis can come with some comfort. Here’s what Gina said about her son’s diagnosis:

“It was a relief to get a name for the thing I’d been watching my son go through. Once it has a name, you can connect with others going through the same thing.”

Fabry Stories - Gina

FABRY

Gina

So, what are the signs and symptoms of Fabry disease?

The signs and symptoms of Fabry can be different for everyone. In men, symptoms tend to be more severe, progress more quickly and unfortunately appear at an earlier age. Whereas women with Fabry disease can grow up without any signs of the disease and only experience symptoms when they reach adulthood.3

We learn from Gina, a Fabry patient, that her first encounter with the disease was when she noticed a small spot on her son’s hip. Following this, her son experienced more marks on his skin, diarrhoea and a burning and tingling sensation in his hands and feet.

Anita, another Fabry patient, experiences stinging in her hands and feet, she describes it as a “constant companion” that often stops her participating in sports.

Fabry disease can affect several parts of the body, take a look at some other signs and symptoms of the disease:4

Fabry Symptoms

Brain
Dizziness, and in severe cases, strokes

Heart
Heart problems such as an irregular or abnormal heart rhythm or beat

Gastrointestinal Tract
Abdominal pain, nausea, vomiting, constipation and diarrhoea

Eyes
Changes in the appearance of the eyes

Kidneys
Problems including cysts or progressive kidney failure

Skin
Small raised dark red spots, excessive sweating, temperature sensitivity and burning or tingling sensations

Ears
Hearing loss, tinnitus and vertigo

Tell me about diagnosis

The journey to diagnosis is understandably tough. If you would like some more insight into the process and the emotions involved in the diagnosis of Fabry, we at Rare2Aware produced a short film series following one family on their incredible journey to diagnosis. We hope these webisodes help others who may be in a similar situation and raise awareness of what it’s like to go through the diagnosis of a rare disease.
Learn more about the Fabry webisodes

Related articles

Want to learn more about Fabry disease? Please visit:

Fabrydisease.info

Related articles

Want to learn more about Fabry disease? Please visit:

Fabrydisease.info

Help us raise awareness of Fabry disease!

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My son doesn’t see himself as a sick person, neither do I.

Fabry Stories - Gina

FABRY

Gina

Have you got a story?

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.

Tell us your story

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