I have learned many lessons about life since being diagnosed with a rare disease as you are forced to view many aspects differently, and 1 of my biggest lessons is how much I value time.
I have been diagnosed with Pompe disease, a rare glycogen storage disease that results in my body’s inability to break down the fuel source of glycogen. That gives energy to the entire body. Without this energy source, my body breaks down and gets weaker, especially my heart and lung muscles.
I receive a medical infusion treatment every 2 weeks via an intravenous drip, which seems to dictate my weeks, days, and hours. It has become an integral part of planning how and when I do things. Every 2 weeks may not sound like a lot, but there are so many other factors that I have to account for and plan for.
The delivery of my medication comes once a month, this is enough medication to last me 2 infusions. It’s a continuous argument with the medical aid to ensure that medication arrives before the next month’s infusion. The consumables I need to mix my medication I have to collect from the hospital once a month and include:
2 x IV bags
56 x needles
56 x syringes
56 x saline bottles
2 x pairs of gloves
2 x sets of facial masks
2 x sets of sterile trays
56 x webcol wipes
My medication itself is 56 vials of Myozyme, which comes from overseas, and it is an enzyme that gets put back into my body as this is the enzyme my body cannot produce on its own. The mixing process seems like it takes hours. When I started my infusions, I used to mix the medication at home, take my IV bag in a controlled temperature cooler box to the hospital, and have the infusion in the day clinic. I then trained a nurse to mix my medication for me. This helped me a lot because the mixing process takes about 2-3 hours on a good day.
Read about experimental therapies for Pompe
During COVID, the nurses were placed under so much pressure, and it took just 1 medication mixing process that was rushed and not done in a delicate, correct way that it damaged the enzymes. Then I received my infusion like I normally would, and just 1 day after my infusion, I started having a severe reaction with my body. I immediately had to be rushed to my doctor, where he had to place me on 3 days of steroid drips to force the medication out of my system. I was in an extreme amount of pain, and no pain medication even helped at alleviating some of the pain I was forced to suffer and endure this for 2 weeks as the medication was being worked out of my system.
It is crazy to think that something that is saving my life by having this medication can also end my life so quickly.
Having lost all faith and confidence in allowing anyone else to mix my medication now, I again started to mix my own medication, and then I would take my IV bag into my doctor’s room to do my infusion so he could monitor me. I could not go back into the hospital as it was extremely high risk with COVID cases at the time. I would arrive at my doctor’s office, and he would place the needle in my arm, and then I would have to sit in the waiting area for 6 hours until it was done. Definitely not ideal for me or my doctor.
I approached my medical aid about having a nurse come to me to do the infusion at my home. Firstly, it seemed like a no-brainer… it was cheaper, safer, and better for everyone. It was a flat-out no from my Medical Aid. I then managed to get them to agree if I could prove that more people would benefit from this service, would they then consider it? They agreed that if I could get 20 people to do home infusions, they would grant me permission. Once again, with a lot of time, I managed to find the need and get the approval from the medical aid. Being able to do home infusions has really helped a great deal. The only downside is that I am forced to do the mixing process once again, which takes 2-3 hours which I do the night before my infusion is due.
Once the medication is delivered to my house, I have to arrange with the home nurse to come in and insert the needle into my arm and attach the IV bag filled with the enzyme I need to break down glucose/glycogen. The earlier in the day I can get this done, the better, as it is a 6-hour infusion. So, 6 hours sitting, thankfully at home now, waiting for the drip to finish is like watching paint dry. It is super uncomfortable trying to operate with my normal day-to-day work with a needle in my arm and a drip bag following me around wherever I go.
When the infusion is done, I remove the needle from my arm, and I tend to feel quite unwell and groggy. I have been cooped up for 6 hours unable to move properly. So, the first thing I want to do is get outside, get moving. I found my peace in the ocean, it is like hitting my reset button, as soon as I am done with my infusion, I head straight to the beach. And whether it is a swim, surfing, or just a walk on the beach, I find my sanity and start to feel more like myself again.
You can just imagine planning a holiday can only be for less than 2 weeks. Doing any type of event, I have to plan to have my infusion with enough time before so that I am not at a deficit with the enzyme that helps the fuel I need to function. This all needs to be planned, and it all takes time. I honestly have gained a huge appreciation for time as I have been made to wait for copious amounts of time in my life. Sometimes this time was to wait while my body healed; other times, it was to be able to walk again. Every single thing in life takes time, and time is what allows us to learn from every situation, whether a good or bad lesson; it is usually a learning curve in the right direction. No matter my struggles, I continue to strive to move forward with time.