Explaining my son’s rare disease to healthcare professionals



In a perfect world, we might expect doctors and nurses to know about any medical issues that might arise. However, this is simply not possible. Although these professionals go through many years of schooling, they cannot be taught about all diseases, especially if it is a rare disease.

Over the years my 3 year old son Cayden has met many different doctors. While his specialists have a great deal of knowledge about Pompe disease in childhood, we have met other doctors who know next to nothing about it.

When Cayden gets sick, I usually take her to a children’s hospital near me. All of its specialists are in a different hospital about a 2.5 hour drive away. During some of these hospitalizations, I have discovered that some members of her healthcare team are unfamiliar with Pompe disease.

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This has happened enough that I expect it when I take him to the local hospital. Every time we go to the emergency room for illness, nurses and doctors review his medical history, as usual. When it comes to its long list of diagnoses, a multitude of questions usually follow.

We are almost always asked, “What exactly is Pompe disease?” The answer is not simple.

Pompe disease is labeled as an autosomal recessive genetic disease, glycogen storage disease, neuromuscular disorder, and lysosomal storage disease. Those with Pompe have two genetic mutations, one from each parent. These mutations cause glycogen, a complex sugar, to build up in the cells of the body.

There are also different types of Pompe disease. The two most commonly recognized types are infantile onset and late onset.

Infantile Pompe disease is usually more serious. Children with this type usually start showing symptoms before the age of 1 year. Symptoms can include poor muscle tone, eating problems, delayed speech, hearing difficulties, heart problems such as hypertrophic cardiomyopathy (thickening of the heart), and lung problems that can make it difficult to breathe.

It is crucial that babies with this form of the disease are diagnosed and start enzyme replacement therapy as soon as possible – the sooner the better.

Late-onset Pompe disease is usually a milder form of the disease. These people may not show symptoms until much later in life. Late-onset patients certainly struggle with symptoms such as slow and progressive muscle weakness, sometimes difficulty breathing, fatigue, and motor difficulties. However, they usually do not have the heart problems seen in the childhood form of the disease.

Because the pump is such a rare and diverse condition, most doctors and nurses don’t spend a lot of time learning it in medical school. Therefore, they may in fact depend on patients, parents or caregivers for most of the information they need about it.

As Cayden’s mom, I really appreciate that medical professionals find the courage to ask me questions. I would much rather answer their questions and help them learn about Pompe disease than just have them read about it. There is no better source of information than someone who really knows what it is to cope with an illness.

Although most parents with rare diseases are not doctors, we can probably explain the disease better than some of them. Living with or caring for someone with a rare disease makes you an expert because you experience it day in and day out. Sometimes healthcare professionals have to depend on us as much as we depend on them!


To note: Pompe disease news is strictly a disease news and information site. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis or treatment. Always seek the advice of your doctor or other qualified healthcare professional with any questions you may have regarding a health problem. Never disregard the advice of a medical professional and do not delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Pompe disease news, or its parent company, BioNews, and are intended to spark discussion on issues related to Pompe disease.



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