My Battle With Isaac Syndrome, And the Struggle for a Cure

I was doing well in my career, I was healthy and living the good life, until I was diagnosed with a rare disease.

6 min read

If you had told me a couple of years ago, I would not be writing this note instead of planning my future, I would have laughed. I was healthy and hearty, not on any particular medication and I had no known allergies except periodic diarrhea for a couple of months. There was no history of alcohol or any other substance abuse and I always believed true healthcare reform starts in one’s kitchen.

As a senior executive in the investment banking space based out of Mumbai, I was on top of my game. From being recognised as the Employee of the Year, to having bagged the maximum number of reality deals in the organisation, at the age of 38, I was doing well.

Things changed during one evening in February 2016, when during my evening walk I got severe pain in the lumbar region and continuous cramps in the right leg. It felt as if I was being stabbed with a sharp object.

Next morning was tough as the pain still persisted and was accompanied with enough stiffness which made any movement very difficult.

What Was Happening to Me?

I visited a conventional orthopedic who after a thorough investigation put me on drugs. But the post-pain realisation of diarrhea slowly denting the body had factored in. Things took a turn for the worse and seeing a gastroenterologist seemed to be a wise decision. He asked me to get my CPK (creatine phosphokinase) levels tested immediately and consult a neurologist.

As the levels were very high, I preferred returning home to Kanpur where I was rushed straight to the hospital. My encounter with time had just started.

The essential first step in managing the situation began with a detailed medical evaluation. One after the other, tests started and the doctors decided to put me on steroid therapy for the following five days. Post being in the hospital for a week, I was advised to go ahead with further examination in Bombay Hospital under a team of experts.

In March 2016, I got under the lights for a general examination which revealed average body built whereas motor examination reported average muscle status with wasting. Presence of stiffness all over was more in the upper limbs. There was excess weakness with spontaneous contractions affecting a small number of muscle fibres in both arms and the face.

Nerve conduction study and EMG (electromyography) were done and confirmed the diagnosis showing neuromyotonic discharge with fibrillation, positive sharp waves and continuous muscle fiber activities.

I was diagnosed with Isaac Syndrome, also called Neuromyotonia in the month of March 2016, a disease so rare that less than 40 known cases of it have been recorded in India.
I was doing well in my career, I was healthy and living the good life, until I was diagnosed with a rare disease.
Fasciculations - this is what happens to my muscles.
(Photo: Rachit Shah)

Some of the other tests showed traces of Membranous Glomerulonephritis (a slowly progressive disease of the kidney. It leads to changes and inflammation of the structures inside the kidney that helps filter wastes and fluids. The inflammation may lead to problems with the functionality).

Isaac Syndrome - But What’s the Cure?

The team of doctors decided on IVIg therapy injected intravenously, which is the use of a mixture of antibodies to treat a number of health conditions. Considering the tests (EMG, Pet-CT, MRI Lumber, spine, sonography, kidney biopsy etc.) and treatment, my stay at the hospital was almost for a month.

I was discharged from the hospital in April 2016 with some medicines and a suggestion to consult another neurologist in Lucknow if need be with a recommendation that there is no such thing as a fair flight & all vulnerabilities must be exploited.

I couldn’t lie to myself and started to laugh on the ambulance, not realising that feeling better was just a temporary phenomenon.

Soon my health proved a tragic experience wrapped in bonkers, making me crawl through broken glass & within 3 months I was on my way to Lucknow. I had the diagnosis and I had the treatment, but the medicines refused to integrate with my system.

Diarrhea, which was on a break for a while, again took its full swing. Pain, sugar, BP and all the other symptoms returned and my hopes of recovery remained a daydream.

I was getting weaker. The situation remained the same for some time where I slept for almost 14 hours a day due to weakness, and in persistent pain despite taking heavy pain killers, immunosuppressive agents, blood pressure and intestine related medicines, probiotics and steroids.

My Meal Platter? 38 Medicines in a Day

I was doing well in my career, I was healthy and living the good life, until I was diagnosed with a rare disease.
My daily intake of medicines went as high as 38 with enough food restrictions due to shooting sugar levels, fluctuating blood pressure and diarrhea.
(Photo: iStockphoto)

My daily intake of medicines went as high as 38 with enough food restrictions due to shooting sugar levels, fluctuating blood pressure and diarrhea. I was recommended to be on complete bed rest till things started to improve a bit when we decided to see Dr Panagariya and his team in Jaipur in August 2016.

At Jaipur Hospital, I was again admitted for IVIg therapy. I didn’t respond to the treatment and it had to be stopped midway.

I was asked to go to Mumbai again, this time to see a different set of specialists.

In March 2017, as the overall health stats didn’t show favorable improvement, I was asked to take weekly shots of ACTH injection (it can work directly on the brain in addition to stimulating the adrenal glands. It is also used in treatment of various other childhood seizures when other treatments have failed). I started to improve though for couple of days there was a weird feeling in the brain.

When it’s Wise to Have an Alternative Health Treatment

A crucial part of my treatment agenda was Naturopathy as I am always on a look out for therapies which could help me from a long term perspective without side effects . I came across this Naturopathy center in Hyderabad and decided to try it for a week.

Post my visit and meeting the doctors, the need of staying back for longer was felt which lasted for a month. Due to the change in my daily diet chart, my stomach did settle to a lot of extent. I realised that they added a lot of coconut in their food curries which has anti-inflammatory qualities, without making any change in my allopathic medicines. Setting strict expectation with one’s palate is the key and a crucial step to lifestyle modification.

Naturopathic treatment was impressive so I decided to make a second visit to Rishikesh, this time with a pinch of spiritual touch. My stay lasted there for almost a month with corrections in food habits, meditation and body posture.

Living With Pain

As medicines and treatments have limitations, the health keeps showing signs of deterioration periodically. It was time to check my monthly health stats. My doctor made some changes in the medicines and asked me to wait patiently for the results.

I was doing well in my career, I was healthy and living the good life, until I was diagnosed with a rare disease.
Central line insertion during plasmaferisis.
(Photo: Rachit Shah)

Pain killers, which were on a sabbatical, became a daily phenomenon again. I was admitted to Medanta Medicity at Gurugram for Plasmaferisis (a process through which blood plasma is taken out, treated and put back in) in December 2017. The central line, which was inserted around the pelvic region, created issues with its inlet and was a nightmare till the last day of completion.

Post discharge, it took me good 20 days to get back to my new normal life, as there was enough weakness and the usual pain in the back and thigh area, all medications being like before.

The journey continues. I am focusing on the journey, not the destination. If you can’t go back to your mother’s womb, you’d better learn to be uncomfortable and fight back. To do otherwise is to settle.

(The above was Part 1 of my blog about my personal journey as I dealt with a rare disorder called Isaac Syndrome. In Part 2, I’ll talk about the disease, treatments, therapies and experimental trails currently underway to better understand the disease)

(Rachit Shah is 38-years-old and had been battling with Isaac Syndrome for last two years. He now wants to create awareness and to educate those who may be battling rare disorders.)

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