What The Hell is That? - The Well Connected Collective
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What The Hell is That?

Rare Disease

What The Hell is That?

Fabry Disease

So What The Hell Is That?


First off thanks for reading my blog, I’ve had some really lovely comments you guys are too kind!

I also had a lot of comments saying what is it you have, oh I’ve never heard of that, is it still chronic fatigue / fibromyalgia ?

To be honest I’d never heard of it either up until a couple of years ago and by such a coincidence that I knew someone that had been diagnosed with it – what are the chances of that when its a rare disease?

As sad as that is knowing someone else with it, it’s also a comfort of knowing someone else understands.

Fabry Disease The Disease That Keeps On Giving

Fabry disease is a rare inherited genetic disorder (Also known as Anderson Fabry Disease) it is caused by a deficiency of the enzyme alpha galactosidase A.. Lot’s of long words I know!

Rather than bore you with science and more long words that I don’t even know how to pronounce my body basically doesn’t work like it should!

Fabry disease is often undetected or misdiagnosed, after 8 years of frustrations and anger and more frustration, I can now actually see why it can be missed or miss diagnosed.

It’s symptoms are non-specific, and many people are not aware of the disease I’m even talking health professionals.

Early signs & symptoms that can occur and everyone of us is different are things such as pain in the body, chronic fatigue, rashes on the skin, digestive problems, as well as more advanced symptoms such as kidney disease, heart disease / attacks or stroke..

If Doctors did have the time to look through all our medical records and treat patients as a whole rather than one symptom at a time could it be caught much quicker?


How common is Fabry disease and who gets it?

Fabry disease is a rare condition that can affect people regardless of their ethnic background. Prevalence (i.e. the proportion of a population who have or had a condition in a given time period) for Fabry disease is estimated to range from 0.27 to 1.69 per 100,000 in men, and 0.33 to 3.47 per 100,000 in women. Information stats from Idorsia

The Totally Crap Stuff that is hard To Get Your Around
Sadly the disease causes progressive damage to vital organs.

It results in end-stage kidney disease and/or life-threatening complications that affect the blood supply to heart or brain, causing substantial morbidity, significantly impaired quality of life, and premature death. oh The Joys…

There is no cure for Fabry disease; however, treatment is available to slow its progression and manage its symptoms.

It needs to be caught early so that you have the best quality of life possible and reduce the risk of more serious complications such as kidney or heart failure, or stroke. Que the eye roll as i have damage to my heart kidneys and brain..

Available are a few different types of treatment – here is what mine is:

ERT – Enzyme Replacement Therapy
Enzyme Replacement Therapy (ERT) genetically engineered form of the enzyme — a protein — that is missing or malfunctioning in Fabry disease.

ERT requires intravenous infusions every two weeks.

The aim of ERT is to help relieve certain symptoms and to prevent progression of damage to important organs, such as the kidneys, brain and the heart.

I started with Infusions at the hospital, you know how I don’t like to be normal I have a risk of anaphylactic with no known cause,
I now though, have a designated home team that comes in to the house each fortnight cue another eye roll, those that know, know..

Intravenous Enzyme Replacement Therapy

“It is only in our darkest hours that we may discover the true strength of the brilliant light within ourselves that can never, ever, be dimmed.”

Keep shining bright people and thanks for reading yet again

Claire xx

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