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When you are sick, your first instinct is to seek medical advice. You make an appointment with your doctor and have full confidence that they will know what is wrong with you. But when the doctor indicates he has finally discovered what is causing your severe symptoms and indicates he has never diagnosed a patient with this disorder before, a red flag goes up.

This was me 14 years ago, moving from practitioner to practitioner trying to find out what was wrong with me, eventually getting to a point where my bank balance and hope had run out. This is why I feel so strongly about being an activist for Pompe disease, my rare disease.  

Over 30 million people worldwide live with a rare disease and as many as 50% of them do not receive a firm diagnosis. Why? Because there is not enough research to rely on to get the right diagnosis. 


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What is rare? You cannot always point out a person with a rare disease in a crowd. But there are an estimated 7000 rare diseases and disorders around the world. A rare disease can be neurological, metabolic, intellectual, rheumatologic, or anti-inflammatory, or a complex epilepsy or immune deficiency.

Most of these are caused by one or more uncommon gene mutations. So to be brutally honest, I most definitely would not have known this much about rare diseases if I myself did not live with one. I was naïve when it came to what a rare disease actually was and what I thought it was. Those are very different things. The deeper I dug into the rare disease hole, the more I realized that I am not the only one that had no idea what people lived with every day.

Read more about the diagnosis of Pompe disease

You won’t necessarily know that someone is living with a rare disease unless they tell you.  And with a ratio of 1 in 10 people having a rare disease the chances are there are likely a few people in your life facing the challenges of living with a rare disease.

So being an activist allows me to communicate to my fellow rare disease people and help them help themselves by getting treatment and not having to give up the fight because they don’t know where to go, or who to talk to. I want them to have access to medication and healthcare as soon as possible. It took me 10 years to get diagnosed and then a further year to get approved to have the treatment and once I finally got it approved, it saved my life. 

So my advice to all my rare disease people out there is to become more educated about your disease. You want to know about updates on treatments, and find people who share a similar experience as you. 

Don’t be afraid to let people know about your rare disease; by reaching out to others you could possibly help others to get diagnosed. Sometimes other patients are better experts about your condition than doctors themselves.

We need to be more understanding of everyone’s differences as a society and work together in helping others understand rare diseases and the impact they have on a person, not just physically but emotionally and mentally, too. 

Once you are diagnosed with a rare disease, you will never be the same as everyone else. Your disease will not just go away even if you are on treatment. So how can we help each other live a better life, live the life you deserve, and not let your rare disease define you?

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