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My Journey With Pompe by Jean Mari

I was born, a healthy baby girl, on the 18th of September 1985. By the time I got to High School, the symptoms started showing, but we were unaware of what would be laying ahead for me.Climbing stairs had become increasingly difficult for me and I always needed a railing to hold on to. I also started to get daily headaches and they got worse as the years passed.

My legs also started to feel very tight, a lot less flexible than they usually were. A lot of children had asked me why I walked like a duckling. In June 2006, we went on holiday to the Kalahari. On the way there, I slept most of the time in the car; I felt tired all the time. During the early morning hours, around 3am, I awoke with a terrible headache that made me want to vomit, almost like a migraine headache.

This continued for the whole holiday and it got progressively worse.

Back home, I was put on a series of migraine medications, but they didn’t help at all.

In that same year, I was also a student at Boland College in Worcester and I had to drive to and fro from Robertson daily. One particular day while driving, I had such a terrible headache that I wanted to fall asleep and in the process, I nearly caused an accident.

One night, four days before my 21st birthday, I suddenly felt very sick. Every time I tried to lie down, I felt distressed. I fetched my saturation machine in order to test the level of oxygen in my blood as well as my heartbeat. The machine’s alarm sounded because my oxygen count was 60% and my heartbeat was 150. My fingertips were blue, my thighs were swollen and I had a terrible headache. My parents rushed me to Worcester Medi City. However they couldn’t do anything for me there and I went into a coma. I was then rushed via ambulance to Panorama Hospital. There it was determined that I had a PCO2 count of 18; there was an alarming amount of carbon dioxide in my body and this was the reason why I went into a coma.

On my 21st birthday, they woke me up. I had a #Trachea in my throat that was connected to a breathing machine which had to breathe for me. My diaphragm was functioning at 0%. I spent 3 months in the ICU where I continued studying despite my circumstances. I completed my assignments, in the ICU, on my laptop. In a private room, with an ICU nurse present, I also wrote my exam. I never stopped believing in myself and I refused to give up.After 3 months, I was transferred to a private room for one month. I got stronger and stronger every day and my diaphragm also started to work little by little thanks to my physical therapy.

I was discharged in December 2006 and went home with a BiPap and trachea onto which I was connected to day and night. I also had a live-in nurse 24/7.

In 2007, I decided that I will continue studying; I went to college with machine and all. Yes, people stared at me, but it was ok; I just kept believing that I will get better.

In March 2007 my diaphragm got strong enough and the trachea was removed. I could speak normally again. I didn’t need the machine during the day anymore, only at night when I slept. And I finished my studies for that year.

In 2008, I went to Stellenbosch to study for my third year and I was doing well concerning my condition. In 2009, I got a job as Grade R teacher.

In 2010, I got engaged.

In 2011, I started studying through UNISA in order to get my B.Ed Degree.

In 2012, I married the love of my life and despite my illness, we went to Phuket for our honeymoon. In 2013, I was diagnosed for the first time with Pompe Disease after 8 years. Doctors had previously tried to determine my condition through all the medical tests that were available in South Africa, but could not find out what the problem was.

In 2014, I received my first #ERT (#EnzymeReplaceTherapy) in Panorama Medi City. I was the only adult woman with late onset #Pompe disease in South Africa.

Up to this point in my life, there have been many ups and downs.

I would have to receive ERT every two weeks, for the rest of my life. This type of medication helps that the sickness doesn’t get any worse. Susan, a nurse and a great friend of mine, and I were trained for 6 months in Panorama in order to learn how to mix the medication as well as how to administer it to me. During this time I also received an Aport implant under my skin. I also learned how to use the Aport.

In 2016, I completed my B.Ed degree with CUM LAUD. Afterwards, I got a job as a Grade 1 teacher. I had finally reached one of my dreams!

In 2017, I received a permanent post and it was a great day for me. Back in 2006, I had never thought that I would achieve so much. Even though the doctors told me that I would never be able to breathe again without the help of a machine, I never let it get my down. I continued to pray and believe that God would hear my prayer. And He did!

POMPE DISEASE changed my life! I was always an introvert and today I am the complete opposite.

I talk in front of people a lot easier now. Pompe also improved my relationship with God and I grew a lot as a Christian. I saw how God still performed a miracle in my life and in my trance, I myself also spoke to God.

I know that God gave me a second chance in life. Yes, my life is not always moonlight and roses, but I choose to live each day to the fullest despite my circumstances.

People still see me as a healthy person. Pompe disease is an undercover sickness and it is not physically noticeable. However, spend 24 hours with me and you will see what I have to do differently on a daily basis than a normal, healthy person.

At night I have to sleep with a BiPap machine, because of my sleep apnea. Every two weeks on Friday, I come home. Susan and I then start to mix my medication which takes about 2 hours. Afterwards, I activate my port and I receive the medication via a drip which takes about 5 hours. Today I am grateful for being able to live “normally” and express myself in my own way. I am grateful for having a job and that I can still function like other people.Sometimes things get too much for me and I feel angry and discouraged. But then God reminds me that there are people who have to go through worse situations. You always think the cross you bear, is the heaviest, but everyone has a cross they have to bear.

I am grateful that there is treatment available for my rare disease. For most people with rare illnesses, there are no treatments available. My treatment costs my medical insurance R 440 000 per month which is about R 5 million per year. Pompe Disease is a PMB illness and MediHelp covers my medication 100%.In South Africa there are 3 adults with Pompe disease and 4 children as well. We are all in a group on WhatsApp and support each other greatly.There is an organisation called Rare Diseases South Africa, which support those of us with rare diseases so much.

Kelly du Plessis is the founder as well as CEO of this organisation. Her young son, Juan also has Pompe. Today I am 32 years old and I never thought that my life would turn out this way. In and out of hospitals so many times. But despite this, I met so many new people. My outlook on life has changed so much and as a person, this sickness has changed me into someone better than I use to be. I appreciate the little things in life and live everyday as if it is my last. I also try to tell people daily that God gave me a second chance.

I try to live as normal as possible and live like I am a healthy person. I try to cut out the word “sick” from my head and live life to the fullest. I try to stay positive even though this illness gets me down sometimes.

There are times when life throws me off the mountain but then I just have to lift up my head, gather my strength and climb back up the mountain again.

I conclude with following:

How many times do we say thank you for good health and being able to breathe? Or do we take it for granted?



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