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The only way from here is up! By Catherine Griffiths

Gosh, where does one begin when a story has been nearly 32 years in the making…

My name is Catherine and I am many things. First and foremost, I am a wife, a daughter, a sister, an aunt and a clinical microbiologist. Last year I was diagnosed with the autoimmune disease #Hashimoto’s #thyroiditis and, as recently as two weeks ago, I was diagnosed with #PrimaryImmunoglobulin (IgG) deficiency. I decided to share my story with Rare Diseases South Africa in the hopes of meeting people with the same/similar condition(s).

Before I explain what each of these conditions involve, here is a little bit more information about my family/clinical history: I am the youngest sibling of three children. I have two much older brothers (12 and 14 years older to be exact!). As a child, I suffered from chronic digestive tract issues which continued to plague me through my teenage years and into adulthood. Everything from appendicitis to spastic colon to irritable bowel syndrome were suggested as possible reasons for the symptoms I experienced but, to no avail treatment-wise.

I also suffered repeated bouts of tonsillitis, until they were removed when I was around four, and upper respiratory tract infections that inevitably descended into bronchitis or pneumonia. Despite all of this and according to my Mom, I was not a “sickly” child. I reached all of my milestones on or ahead of time and I like to think that I led a relatively normal childhood. I was the Dux of my high school, achieved 6 A’s in Matric and went on to obtain a Master’s degree in Veterinary Tropical Diseases from the University of Pretoria.

The problems with my thyroid began when I was about 13 years old. I was suffering from extreme tiredness, skin problems and irregular/absent menstrual cycles. The tests revealed that my thyroid was overactive but, more importantly, my thyroid antibody levels were off the charts. My T4 and TSH levels were monitored throughout high school and eventually normalised when I was around 16. It was only when I began work at the age of 23 that I once again found myself suffering from extreme exhaustion, constant fatigue and recurrent urinary tract infections (this will become important later).

It was then discovered that I now had hypothyroidism (underactive thyroid) and I was put on Eltroxin. The years that followed are a bit of a blur with my Eltroxin dose being increased or decreased depending on what the, often incomplete, test results showed. Unfortunately, my antibody levels were not monitored as closely as what they should have been. After years of “bumbling” along, everything came to a head last year (2016) when I began to experience significant problems with my eyesight. Fortunately, I was working for an optometrist who urged me to seek the advice of a specialist.

In a manner of two to three months, I had lost almost 10kg, become drastically more short-sighted and had a left eye that was bulging out of its socket. I met with an oncologist thinking that radioactive iodine therapy was the way to go but he recognised that my situation was far more complex than what it appeared and referred me to a specialist physician. Over the next few months I would find myself in and out of hospital at least 10 or more times having every test conceivable done to find the underlying cause of my symptoms.

My specialist concluded that I had #Hashimoto’s thyroiditis combined with adrenal fatigue syndrome and a severe vitamin D deficiency. Years of taking less than optimal concentrations of #Eltroxin had also taken their toll on my liver and kidneys. Fortunately, my doctor has studied auto-immune diseases in both the UK and US and is very progressive when it comes to treatment regimes. A holistic approach is of the utmost importance. He optimised my Eltroxin dose, prescribed vitamin D in the form of calciferol and recommended an imported liver support/detoxification supplement. In addition to this, I have to be admitted every 6 weeks for further vitamin therapy and liver detoxification.

He also insisted that I adopt a strict gluten-free diet due to the fact that gluten plays a significant role in “leaky gut syndrome” which in turn is involved with the auto-immune aspect of Hashimoto’s disease. What have I learnt from all of this? Thyroid disease is very poorly understood – not just in this country, but worldwide. You only have to join one of the many support groups out there to see this. I cannot emphasize the importance of being your own advocate enough. I am fortunate to have a doctor that actually gives me “homework” to do.

It is so important to read and ask questions and to never settle for less than you deserve treatment-wise.Okay, so you would think that that’s where the story ends, right? Wrong! About a month ago I once again had one of my bouts of severe lower abdominal/ back pain. If I hadn’t already had my appendix out, I would have suspected that my appendix had burst. The pain was that bad. My husband rushed me to the emergency room where I was diagnosed with pyelonephritis (kidney infection). A week of potent antibiotics later and I was feeling okay but still not 100% better. Another week later and I was throwing up in my handbag on the way to work.

I was in absolute agony again and was rushed to the ER. The morphine didn’t even touch sides. I was admitted for what would turn out to be my longest stay in hospital ever. My infection markers were through the roof, the fevers were intense and I was battling to keep anything down. One morning, after a particularly rough night, I asked my Mom to please come to the hospital as soon as she could. I am not ashamed to say that I still need my Mom. As it turned out, it would be the first time that she met my specialist. They spoke about my childhood illnesses/experiences. This would turn out to be the pivotal moment in the diagnosis of primary immunoglobulin deficiency.

He added on the necessary tests, unbeknownst to us, after their chat and the results confirmed his suspicion. The next day he informed me of the breakthrough. Initially, I was in shock. I knew what this diagnosis meant. It would mean PolyGam (gamma globulin or IgG) infusions every 3-4weeks for the rest of my life at great cost (my first infusion totalled about R20 000!). For those that don’t know, immunoglobulin G or IgG is the main antibody found in human blood. It is the second most abundant circulating protein and contains long-term protective antibodies against many infectious agents. It is not surprising then that a deficiency in IgG results in many persistent and chronic infections.

Individuals that have an IgG deficiency also typically display a poor response to vaccinations (I had both Whooping Cough and Mumps despite being vaccinated). After the initial shock had passed, I felt increasingly more positive about my diagnosis. After so many years of struggling with chronic illness, I finally had not only a diagnosis that made sense but a treatment regime as well. I feel incredibly blessed to have such an excellent medical team around me as well as an incredible support system in the form of family and friends. I look forward to my next PolyGam infusion in 3 weeks’ time – the only way from here is up!

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