In the spring of 2002 my 52 year old father collapsed on a shopping trip to the local supermarket with my mum. She brought him home and he was white as a sheet. Weak. Struggling to stand. In distress and discomfort. She took him to A&E and save for a couple of weeks here and there, hospital is pretty much where he stayed for the next year.
Tests showed that his kidney function was low and falling. His ankles became swollen and he began to put on lots of water weight. A condition called Edema.
Following urine and blood tests and a kidney biopsy he was diagnosed with Nephrotic Syndrome. At the time, we had absolutely no idea what that meant or was.
My mum went to visit him every night for next several months but was kept in the dark it seems about what the condition really was or my fathers prognosis. Looking back now, we believe he was behind this information black-out. Was he trying to protect us? Did he want to save us from worry? The condition was complicated at the time. It was difficult to understand.
I began visiting him as regularly as my mum at first but I grew to hate the constant drives to the hospital some 30 minutes away and began to loath spending 2 hours sat on a hospital ward every evening and over time my visits became less and less. A decision that would come back to haunt me.
For a short while in the September of 2002 my dad's condition stabilised enough for him to come back home. Accompanied by a huge collection of tablets and some kind of daily self-administered subcutaneous injection. But one Sunday he began to feel unwell and we took him back to hospital.
Further tests showed that his kidney function has declined even more. They gave him a blood transfusion and even more tablets to take.
He was allowed home for Christmas but was back in hospital shortly after. Come the spring of 2003 his condition has worsened. His weight had plummeted. He had aged a lot.
It was on a Saturday visit to the hospital that he asked me to lift his right leg over a bit by grabbing his pyjama bottoms as he was complaining of cramp. Not fully appreciating the consequences of my actions I just grabbed my dad's leg and yanked it over. He screamed. I lifted his pyjama trouser leg to take a look. His leg from the top of the foot to his lower knee was purple. Like a Plum. I didn't know what it was. I didn't know what that meant.
In early June 2003 my mum returned home to tell me that dad was worse. The hospital had said they had done all they could and he was being transferred by ambulance to another hospital in the next city as they had a specialist unit that could continue his treatment. We all went to visit him on the ward of the new hospital and he looked awful. He didn't speak much. He was in pain and it was caused by the left leg. I looked again, it was black. I still had absolutely no idea what was going on. What was really wrong with my dad. In that moment it all seemed like a bad dream.
A week later the phone rang and it was a nurse from the new hospital. She wanted to speak to my mum but I told her she had already left to visit dad with my younger sister.
The nurse had an anxious tone in her voice. She told me that my dads condition had deteriorated in the night and they had taken him to the intensive care unit and put him on a ventilator.
She said she was sorry to have to say this but she advised that we all came as quickly as we could as it wouldn't be much longer. "What wouldn't be much longer?" I thought.
I hung up and called my mum who had just pulled up in the hospital car park. I told her that he was now in ICU on a ventilator and that the nurse just said he didn't have much time left. She was understandably distraught.
My sister rushed back to collect me and drove in silence back to the hospital where we parked up and made our way to the family room of the ICU. A nurse entered a PIN number to the secure waiting room door and there was my mum sat on her own. "You're too late, he's already died!"
I felt the colour literally drain from me. I have never felt so numb. I was sure I would wake up any moment. But this was really happening.
The next two weeks was a complete blur. I have no memory of it but for this sense of absolute grief. Bad dreams, tears and eating nothing. I still had no idea what was going on. What my dad had or why he had died.
It wasn't until my mum showed me dad's death certificate that I read the words; "Overwhelming Sepsis due to Focal Segmental Glomerulosclerosis."
Sepsis is bad. Very bad. Serious blood poisoning. The mortality rate is about 40%. That I could understand. So it alleviated some confusion. Gave me some comfort. But what that hell was Focal Segmental Glomerulosclerosis? I would spend the next 18 years trying to understand what this was.
In layman's terms. Focal Segmental Glomerulosclerosis or FSGS is localised damage to the glomeruli (the filters) in your kidneys. The damage causes scarring (sclerosis). This filtration damage obviously impairs kidney function. The normal process of blood filtration is disrupted. Blood and protein leak into the urine and waste products leak into the body causing Edema.
This breakdown of healthy kidney function leads to a whole plethora of other issues. These issues and the treatment my dad received led to him developing Sepsis. And his body just could not beat that on top of everything else. It's now August 2021. Only now am coming to terms with the loss of my father. Who was my idol. My hero. My best mate.
So you're probably wondering why I am sharing such a personal, descriptive and very sad story with you. The causes of FSGS are not fully understood. There is Primary FSGS that there is no known cause. Secondary FSGS caused by other diseases such as HIV, diabetes, sickle cell or kidney damaging drugs such as Steroids. Then there is the form of FSGS has that begun to make me worried. Genetic FSGS.
The genetic forms of FSGS occur due to an abnormal variant in a susceptibility gene, or a disease-causing variant in a gene known to cause FSGS (monogenic FSGS). More than 40 different genes have been reported to be associated with FSGS. Some of these genes create (encode) proteins that are involved in the proper health, development, and function of podocytes. An abnormal variant in a susceptibility gene means that a person is at a greater risk of developing a disorder than someone without that gene variant, but that the disorder won’t develop unless other factors (usually environmental, immunologic, or other genetic factors) also occur. People with an abnormal variant in a susceptibility gene may never develop the disorder associated with that gene.
So the answer I am searching for now is; what caused my father to develop FSGS? What caused him to develop a kidney disease that some articles claim only effects 7 people out of every million?
Was it Primary, Secondary or Genetic? There has never been a case of FSGS or any form of kidney disease in my family. Plenty of Cancers. But not FSGS.
Is is a sensible precaution to get tested for proteinuria and kidney function at regular intervals?
I am 45 this year. I am developing a mild sense of paranoia that I just can't shake. I am fit, active. Eat healthily. I don't smoke or drink. I calorie count almost obsessively to ensure a low body fat percentage.
Am I worrying over nothing?