130 Days in ICU #PompeDisease

Where do i begin?? How do shorten my story. Well i will try my best.

September 2016 was a month I would never forget. I started feeling sick at work. I just thought it could be a cold. I went to the doctor and she sent me for x-rays. That is where the red flag was raised. They picked up that my heart was enlarged and then I was sent for more tests. I ended up in hospital for a few days. Muscle tests, Heart Sonar, EKG blood and urine tests. Nothing indicated why my heart was enlarged. I was referred to go see a Neurologists as well as Cardiologist in Bloemfontein. But being a typist for a lawyer firm and used up all my leave I couldn’t just go. I already had used up my sick leave because I had to have my gallbladder removed in 2015.

I continued working. And everything just went backwards. I was getting less and less sleep, struggling to breath and walk. Even getting up and getting out of the car was such a huge task and struggle. The night of my daughter’s Graduation I couldn’t even get up from the chair, that’s when I actually realized something was wrong. On October 7th I went to work but I didn’t feel good at all. When I got to work I couldn’t get out of the car, my mother had to push me from behind just to help me get out. At 10:00 I phoned my doctor and explained my symptoms, she told me to get to an ER immediately, because the symptoms I am having are signs of heart failure.

Rushed to the ER immediately, when I got there the Doctor sent me to straight ICU, hooked me up on oxygen, monitors and EKG and requested blood tests ASAP. She came back after a while and said that she is sending me to Bloemfontein to see a Cardiologist. I was stunned. Everything was happening so fast. I remember taking selfies in the ambulance for my mom and daughter. When we arrived at the hospital I remember going into the hospital and talking to arriving and the hospital, but after that everything is vague. I have a memory of a few people standing around my bed and asking them what they have given me because I feel funny. But that funny feeling I had I cant explain at all.

Apparently that morning when they had to wake me up for wash routine they saw something wasn’t right and notified the doctor on call. As they explained to me, my CO2 levels rose extremely high and caused me to go into respiratory heart failure. They had to resuscitate and then intubate me, then putting me on a ventilator as I couldn’t breathe on my own. I was in an induced coma for two weeks as they were trying to figure out what is wrong with me. Worst part of waking up after that two weeks was not being able to move at all. It was scary as hell. It felt like I was paralyzed and also not being able to talk due to the tube in my mouth. They couldn’t remove the tube because I kept on desaturating. After two weeks they had to do a #Tracheostomy. Never in my life did I think I would end up in this situation.

I was first diagnosed with #MyastheniaGravis. I started treatment of dialysis as well as Mestinon to treat this disease. After a few weeks they tested me again and that test was negative for Myasthenia Gravis. All the doctors were in a tiff. They even seeked 2nd and 3rd opinions. Last resort was they would test me for Pompe Muscle Disease. A dry blood test was done. And sent to Canada, but results would take 6 to 8 weeks.

In those 8 weeks so much has happened. I ended up with an ICU bug that landed me in Isolation. I spent Christmas as well as New Years in ICU. I had plenty of Physio to get me walking again.Some of my worst times was when I couldn’t see my daughter. She was too small to come into the ICU. There where 2 or 3 times that they made an exception and dressed her up in hospital clothing and masks just so she can spend a few minutes with me.

They then decided to send me to Rehabilitation in Johannesburg to wean me off the ventilator. Terrified and excited at the same time I had no choice but to go. After 130 days in ICU on 15 February I left the ICU. REHABAfter 2 weeks of Rehab and exercise my results came back. On 27 February 2017 I was positively diagnosed with Pompe Muscle Disease also known as Glycogen storage disease. It is a rare and often fatal neuromuscular disease. That is when they realized that weaning me off the ventilator wasn’t possible and that I would most likely stay on oxygen and the ventilator because the biggest cause was that my diaphragm was paralyzed. No one has ever heard of this disease to they weren’t sure what to expect or where to go from here. At that stage I heard that we were only 8 people in South Africa that currently has this disease.

Then I heard from Kelly from Rare disease South Africa. Her little boy also has Pompe Disease. She started telling me more about my disease and what the road ahead leads to. She gave me the courage not to be defined by my disease and that I could still lead a full life. She started making phone calls to see if they could get me transferred to a private hospital to start my treatment immediately. I received the great news that I could go home and receive my treatment there at a local hospital. She was a huge help for me as I was totally terrified. The treatment I receive is called #Myozyme. I receive 35 vials in an IV bag every second week. The infusion takes up to 5 hours. The cost of the medication was a huge shock an amount of R436 000 a month. This is an Enzyme Replacement Therapy that is used to treat Pompe Disease. It has been one year already and I have improved so much. They removed my trachea in June 2017 just after 6months of treatment. And in July I stopped using oxygen. My diaphragm is working 3cm on my last check up and I walk much better by myself. I still sleep with my Bipap machine due to the fact that I cannot sleep flat on my back.

Here is a link to my video: https://m.youtube.com/watch?v=zA6FdwwzZ3w


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