Having been misdiagnosed, I would have never imagined how life with Pompe would turn out.
My name is Michelle Marais and I am a Pompe warrior
Growing up I was healthy and active and had no medical issues at all. As approached adulthood walking up the stairs was a mission. I used to drag my feet a lot and struggled to get my muscles to do basic stuff, like getting up from seating down. At the time, I also had episodes of falling to the ground a lot of times to which I did not pay much attention to.
September 2016, I started getting sick. There was so much tightness on my chest, I could feel my lungs closing in on me as I battled to breathe. My instant thought was to see my GP (General Practitioner) just to figure out what is happening. I went to see my GP and she sent me for chest x-rays. When we got my results back, they showed that my heart was enlarged, this was a shock to me because I was healthy, and nothing has ever been wrong. She instantly referred me to a specialist for further tests.
All sorts of tests were done, from Blood work to muscles, from a heart sonar to EKG, and even an MRI. Despite all these tests being done there was still no confirmation of why my heart was enlarged. I was then referred to go see a Cardiologist and a Neurologist in Bloemfontein, which was 200km from where I lived.
I did not go immediately because I was working and couldn't take time off work. As the days went by, I started to experience swelling in my legs, feet, and hands. I could not sleep on either of my sides or my back, I begun sleeping upright as it was the only comfortable sleeping position for me, which meant no aches and pains. I was unable to put my head on a pillow because the minute my body would get into a relaxed position I would struggle to breathe, and I would have severe migraines from that and an earache. I got worse and worse by day.
I am a mother to my lovely daughter Kelly-Ann, which has been such joy and a blessing. One day at her (6) graduation ceremony when she was 6 years old, I wanted to get up from my seat and cheer her on, but I could not get up at all. This bothered me a lot as I struggled to even lift my leg, I had to wait until everyone had left and asked my parents to help me up. That night I knew something definitely wrong. I was anxious and not myself at all.
The following morning, I knew I had to work, it was a huge struggle to even just get dressed, at that point on I felt like my body was failing me. I could not lift my arms to dress myself or even walk to the bathroom. When my mom dropped me off at work once again, I could not get up. My mom had to literally push me out of the car.
Barely at the office for 2 hours I couldn't take it anymore. We contacted the doctor and explained my symptoms. Her words were that I had to get to the hospital ASAP, this now sounds like my heart is failing. The doctor arranged everything. I went home, packed my bag, and went to hospital. Upon arriving they were already waiting for me and immediately took me to the ICU and put me on EKG to monitor my heart and gave me oxygen and started medication. I was kept overnight for monitoring. The following morning the Specialist decided that I need to be transferred to Bloemfontein to see a Cardiologist and a Neurologist. I now knew that this was serious, and I won’t be going home soon. I didn't even have time to say goodbye to my daughter or my parents. I was sent there immediately with an Ambulance. I even took some photos in the Ambulance to update my family and parents.
I remember when we got to the hospital in Bloemfontein that I was sent to the Cardiac ICU. I also remember speaking to my mother and telling her that I felt funny, it felt like they had given me some medication that made me feel funny and things weren't right at all. I couldn't even speak to my daughter. That's how funny I felt. I remember asking the doctors what they gave me because I did not feel normal at all. That was the last thing I remembered.
As the doctors explained to my parents. My C02 (oxygen) levels had spiked so high that it affected all my vital organs and basically caused me to stop breathing. They had to resuscitate, intubate, and put me on a ventilator. I was placed under sedation for 2 weeks because when they tried lifting the sedation, I got anxious and wanted to remove the tube from my mouth. I was now not able to breathe on my own and needed to be kept on a ventilator. They told my parents that I was diagnosed with Myasthenia Gravis Muscle Disease, and they have started me on treatment immediately.
2 weeks passed, and the sedation was lifted. My hands were tied to the bed. Not knowing what is going on, not being able to move. My anxiety kicked in and I started crying. No words could come out of my mouth as there was a tube inside my mouth which was placed in a weird way. Luckily there was a great nurse that started to explain everything to me. She explained why I was restrained and that she will remove them if I promise to not touch the tube in my mouth.
I couldn't talk or ask any questions.
I just wanted to know why I can't move and what is happening to me. She gave me a clip board and asked me to try and write. At first it was very difficult; my arms were extremely weak. But I finally managed to start writing and was now able to communicate with everyone.
130 days in the ICU.
● I went from having a tube in my mouth to getting a tracheostomy tube in my throat. Needing life support 24/7 was necessary.
● Getting my feeding tube removed so that I could start to eat and start using the speech trachea.
● Treatments I received consisted of heavy doses of cortisone and a handful of pills every day.
● Plasmapheresis was done every 2nd day for 7x times. The worst treatment I ever had.
In the 130 days I spent in the ICU, I started with physiotherapy to learn to sit and walk again. My body had become so weak that I wasn't able to do the things I used to. Thanks to great team of nurses and physiotherapists I was able to move my legs and arms and even learned how to walk again with assistance.
The worst part for me being in the ICU was not being able to see my daughter. She was not allowed in the ICU due to her age. Every patient had their visitors daily.
My parents could only come and visit me every 2nd weekend because my mom had to work, and my daughter had to attend preschool. Eventually the hospital made an exception to let my daughter come and see me. That's all I wanted, and all that kept me fighting.
November 2016 the Neurologist stopped all my medication for Myasthenia Gravis because the last tests showed that it was in remission, but there was still no progress in my breathing or mobility. He then knew that the diagnosis of Myasthenia Gravis was wrong. He then decided to get a genetic test done. This is a dry blood test that is done and sent to the University in Germany to be tested. They test your genetics and can then determine what underlying conditions there might be. This test can take anything from 6 to 8weeks before getting the results. All I could do was wait and go on with my physiotherapy.
I spent Christmas and new years in the ICU waiting for the results on these tests. Then in February 2017 I was transferred to a rehab center in Johannesburg to get rehabilitation and get me off the trachea and back into shape. 2 weeks into my rehab the results from the genetic testing came back. I was diagnosed with Glycogen Storage Disease Type 2 also referred to as Pompe Disease.
The shock wasn't the diagnosis, it was when they told me there is no cure for this disease, only medication that would stop me from deteriorating and that they wouldn't be able to wean me off the ventilator and oxygen. This is due to my core muscles being too weak and my diaphragm was partially paralyzed. I was fitted for a machine called Bipap, it would be used instead of a ventilator, and I would be able to travel with it when needed.
Finally, I was able to go home.
April 2017, I started my first Myozyme Enzyme Replacement therapy. It consists of 35 vials of powder that is made up into a drip bag and runs for up to 5hours. This must be done every 2 weeks for the rest of my life. This is not a cure, but it keeps me going. This treatment comes all the way from overseas and costs my medical aid over R500 000 monthly.
June 2017 my tracheostomy was finally removed, and I could breathe normally again. Still using my oxygen during the day, but only using my Bipap when needed and to sleep
Today marks 5 years being diagnosed and being on treatment. My mobility hasn't changed much, but today I'm able to walk short distances.I use my wheelchair when I need to sit because getting up is a huge struggle. I cannot sit in any chair or on couches. I'm not able to bath, I only shower and I must use a toilet raiser too.
I cannot climb stairs at all. I sleep in a reclined bed because I cannot sleep on my sides at all.
My core muscles have been affected so much that I don't have the ability to move around, bend down or reach up.
Article: Michelle Marias