News & Events

COPING WITH A RARE CONDITION

Last Reviewed 4/10/2019

By Rachit

As Anne Frank once said, ‘If I haven’t any talent for writing books or newspaper articles, well, then I can always write for myself’. This is why I am choosing to pen down a lot from my personal experience, as I hope to help others suffering from Isaacs’ syndrome, a rare neurological condition.

In layman’s language

Neuromyotonia (NMT), also known as Isaacs’ syndrome, is a very rare condition of muscular hyperactivity. Patients may present with muscle cramps, stiffness, myotonia-like symptoms (slow relaxation), myokymia (quivering of muscles), fasciculations (muscle twitching), fatigue and exercise intolerance.

I am not just a bed number

If you had told me a couple of years ago that I had this condition, I wouldn’t be writing this note, and would instead be planning for the future. Part of me was surprised, as I was healthy and hearty, not on any peculiar medication and had no known allergies (except periodic diarrhoea). There was no history of alcohol or any other substance abuse and I completely believed that true healthcare reform always starts in one’s kitchen.

As a senior executive in investment banking, based in Mumbai, my professional experience speaks for itself.

I was walking one evening in February 2016, and suddenly felt a severe pain in my lumbar region and continuous cramps in my right leg. The next morning, after gathering all my strength, I presented myself to an orthopaedic doctor who, after a thorough investigation, prescribed me some medication.

As the pain left my body, I realised my diarrhoea had taken an evil turn and seeing my gastroenterologist again seemed like a wise decision. He asked me to get my CPK (creatine phosphokinase) levels tested immediately and to consult a neurologist. 

The first step towards managing the situation was a detailed medical evaluation. One after the other investigations started, and the doctors decided to put me on steroid therapy for the next five days. 

I was diagnosed with Isaacs’ syndrome but some of the other tests also showed traces of membranous glomerulonephritis (a slowly progressive disease of the kidney). This leads to changes and inflammation of the structures inside the kidney that help to filter waste and fluids. 

The team of doctors decided on intravenous immunoglobulin therapy, which involves using a mixture of antibodies to treat a number of health conditions. Considering the number of tests (EMG, Pet-CT, MRI Lumber Spine, Sonography, Kidney biopsy, etc…) and treatments I was having, I ended up staying at the hospital for almost a month.

Although I was starting to feel better,  this was just a temporary phenomenon. Unexpectedly, I was getting weaker. The situation seemed to have stagnated and I slept for almost 14 hours a day due to weakness and pain, despite being on heavy medications.

My daily intake of medicines was exceedingly high and my  food was restrictied because of my unstable sugar levels, fluctuating blood pressure and diarrhoea. I was bedridden, until things stabilised when a doctor  and his team took me under their supervision in Jaipur in August 2016.

In March 2017, as my health didn’t show  any signs of improvement, I started to have  weekly injections of ACTH (adrenocorticotropic hormone) which  affects the brain directly, in addition to stimulating the adrenal glands. 

My moment of solace was short-lived and soon I realised that these improvements  don’t happen straight away . As treatments have limitations, it was time to see my allopathic doctor, who made some changes in the medicines and asked me to wait patiently for the changes to  start.

Painkillers became a daily phenomenon again. I was admitted to a new hospital for plasmapheresis (filtering of the blood) in December 2017. Although I was taking the procedure lightly, the central line which was inserted around the pelvic region created issues with its inlet and it was a nightmare until the procedure finished.

Post-discharge, it took me a good 20 days to  feel relatively normal again, and I still felt weak and had the usual pain in my back and thighs. 

Despite my challenges, I am focusing on the journey, not the destination. I am determined to keep fighting.

What helps me

Over the years I have found many ways to help manage my condition. I have found lifestyle changes such as  changing my diet and activities including yoga and meditation have positively influenced my health. 

I call my family ‘nature’s masterpiece’. One of my biggest sources of strength and support has been my family. I never realised when my journey became our journey. 

Everyone has their own story to tell. The fact that you have read this right until the end makes me feel heard.

ABOUT RACHIT

Rachit Shah is a 38 year old ex-investment banker living in Mumbai. Rachit is a long distance runner and enjoys playing table tennis, volunteering, writing articles for social platforms and contributing to rare disease communities in India.

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