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When looking back on the many years it took to find a diagnosis, as well as the many more years trying to find balance in my life, it really is remarkable how much a rare disease makes you rare in many ways.

In 2016, I was diagnosed with Pompe disease, a rare inherited illness that causes an abnormal buildup of glycogen in the body. In my case of having adult-onset Pompe disease, I was told that I will have progressively worsening limb-girdle myopathy and respiratory muscle weakness.

Upon learning that there is treatment available for my condition, my first rare challenge was to navigate the many avenues in the medical insurance field. I was sent from doctor to doctor to perform various tests, procedures, and scans. All of this took over a year before I was granted access to medication.

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Once finally granted treatment for my disease, my second rare skill was to acquire and manage to handle such delicate and expensive enzyme medication. I have no experience as a nurse or doctor when it comes to mixing medications and handling medical equipment, such as needles, syringes, and intravenous saline bags, all within a safe sterile environment. 

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The third rare skill I was taught was how to do the mixing of my own medication which consists of 28 vials for an individual of my weight. The mixing process was very tedious and hard to learn. Moreover, the stakes were high, if I get something wrong with the mixing process, it could very easily cost me my life.

The mixing of medication in terms of duration it takes per infusion:

  • 2 hours a week
  • 8 hours a month
  • 96 hours in a year

It may seem small but that is just for the mixing process of the medication, that does not include the hours trying to organize the medication as well as setting up a sterile environment and then arranging for an authorization to have a nurse come and assist in canulating my vein and monitoring me during the infusion process.

Hours involved in receiving infusion treatment:

  • 6 hours a week
  • 24 hours a month
  • 288 hours in a year

Being rare not only means that you learn to perform all these new techniques and skills but also that sometimes the people around you will have to alter their lives in some way to assist you. It may be in the form of physical or emotional help but the truth is, they will have to be very understanding of what a person with a rare disease is going through. 

My wife, family, and many close friends have helped a great deal in supporting me in whatever way they can. Often there are times when the pain in my body is so unbearable to walk or function normally, yet others who do not know me would look and see nothing wrong with me. It is then that a rare disease individual can feel so alone and lost, so I am forever grateful for my family and friends who help me through the really big struggles.

To me, having a rare disease helps me see how rare and wonderful others can be in supporting, encouraging, and selfless in altering their own lives to assist in making mine better.