Recently I have been contacted by a few individuals whose siblings or friends have just been diagnosed with Pompe disease. They simply searched on social media for Pompe disease and found my profile, then proceeded to ask me a whole bunch of questions relating to how I was diagnosed, as well as what they could do to help support and be a strong pillar for their loved ones who have now been diagnosed.
I can relate to their situation, especially the anxiety that comes with a new diagnosis of Pompe disease. It took me 10 years to finally get diagnosed, and once I was, there was very little information given to me by the doctors. I had to do a lot of my own research on what Pompe really was and how it is affecting my body.
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A quick google search of Pompe mainly comes up with some very scary and fear-inducing outcomes of the disease. However, a lot of this information is mainly aimed at the infantile onset of Pompe, and there is not a great deal of information on the adult onset of Pompe.
Pompe, also known as acid maltase deficiency or glycogen storage disease type 2, is characterized by a deficiency or absence of the lysosomal acid alpha-glucosidase enzyme (GAA). It is estimated that 1 in 40,000 may inherit the rare mutation from birth. There are 2 types of Pompe, including infantile and adult onset of disease. Pompe is associated with skeletal muscle weakness causing mobility problems and affecting the respiratory system.
The articles I studied also mention how dangerous enzyme replacement therapy can be if the patient has an allergic reaction to the medication, and it states how it is very possible to go into anaphylactic shock and die. However, this is mainly referring to children who have Pompe; they do not have a developed liver to deal with an allergic reaction as effectively as adults can.
As a friend or family member wanting to support your friend who has just been diagnosed with Pompe. I would really encourage them to try and turn to the Rare Disease Advisor (RDA) to start reading some of the columns that are written by other patients who have been living with Pompe for some time already. There is also such great information on there to help educate more about Pompe and how best to try to get into treatment which can make such a big difference in helping slow the progression of the disease.
I would encourage family and friends to just be there for the newly diagnosed patient, and listen and learn about the disease and how to manage it together. I was completely withdrawn in the beginning and did not want help from anyone. I soon realized that I was really struggling mentally to deal with and manage it all. So I leaned on friends and family to help guide me and keep me thinking positively.
Years later, I am the one now preaching to others who get diagnosed that your diagnosis does not and should not ever define who you are and what you want to do in life. You may have to adjust your goals, but the only limits are the ones we create for ourselves.
