Having a rare disease can feel isolating. Many people have never even heard of your condition, much less know anything about it. This is even a problem with doctors. Despite all of their schooling, it’s still impossible to learn the ins and outs of every disease. This is an issue that Keara Engle knows well, as she has to explain her son’s condition, Pompe disease, to doctors often.
Educating Your Doctors
Keara is the mother of Cayden, her three-year-old son. He was born with infantile-onset Pompe disease, and because of it, he has seen many different doctors throughout his short life. While his specialists are well equipped to help and treat Cayden, many other doctors haven’t even had an idea of what Pompe disease is.
This experience happens all too often, unfortunately. Keara often takes her son to the local children’s hospital when he needs care, as his specialists are more than two hours away. Each time, doctors have to examine Cayden’s medical history and diagnosis, which is typically followed by questions. The most common one is: what exactly is Pompe disease?
About Pompe Disease
Pompe disease is a rare, genetic disorder that is caused by a mutated GAA gene, which is inherited in an autosomal recessive pattern. This causes an accumulation of glycogen in the body, which goes on to disrupt the functions of the muscles, organs, and other tissues. There are multiple forms of this condition, based on the age of onset. Infantile-onset and late-onset are the two most common forms. Cayden has the former.
Children with the infantile-onset form begin to develop symptoms a few months after birth, which are muscle weakness, reduced muscle tone, cardiac issues, breathing problems, and an enlarged liver. It is essential to diagnose and begin treatment for this condition as soon as possible, as it can be fatal within the first two years of life. The late-onset form can develop over a range of ages, whether it is late childhood or adulthood. In general, this form is not as severe and less likely to bring cardiac symptoms. People with late-onset Pompe disease typically experience progressive muscle weakness, which can potentially lead to respiratory failure.
It is crucial that Pompe disease patients receive treatment with enzyme replacement therapy as soon as possible. The FDA has approved of Myozyme, which is administered via infusion every other week.
Keara wants doctors to know that she wants them to ask her questions! She’d much rather educate her son’s physicians rather than continue without essential knowledge. The information she gives is extremely insightful as well because she lives within the Pompe disease world every single day. In this way, she is an expert. She sums up her feelings in one sentence:
Sometimes medical professionals need to depend on us just as much as we depend on them!
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