Experience and Resolution of a Rare Disease: Mr. Rachit Shah Shares His Story

Anne Frank once said: “If I haven’t any talent for writing books or newspaper articles, well, then I can always write for myself.” Inspired by her, I thought of penning down a lot from my personal experience, hoping to help others suffering from Isaac’s Syndrome. Isaac’s syndrome is a diverse and rare disorder resulting from muscular hyperactivity.

I am not, just a bed number
If you had told me a couple of years back, I would be writing this note instead planning into the future, I would have rubbished your statement, outright. I was living a normal life- work, family and friends- were the three pillars of my life.

One evening, in Feb 2016 during my walking session, I experienced severe pain in the lumbar region and painful cramps in the right leg. It got worse the next day with increased stiffness in the upper limbs. I felt very weak and experienced spontaneous gross fasciculations in both arms, in the face, over the masseter muscle and around the eye. A trip to the hospital was inevitable, with so much pain and difficulty in controlling posture as well movements.

One after the other, investigations like EMG, PET-CT, MRI of lumbar spine, sonography, kidney biopsy and others, were conducted. The diagnosis was Isaac Syndrome even called Neuromyotonia, in the month of March 2016. Some other tests also revealed traces of Membranous Glomerulonephritis.

My team of doctors have tried out steroid therapy, plasmapheresis, anticonvulsants, IVIg, ACTH injections and immunosuppresants.

My health till now has proven to be a tragic experience and my symptoms keep recurring, time and again.
There was a time when sleeping for 14 hrs a day seemed like my hobby due to weakness & persisting pain inspite of being on heavy medications like pain killers, immunosuppressive agents, and blood pressure medicines. Drugs related to intestinal health, diabetes, probiotics & steroids became a part of my daily food platter. The daily intake of medicines was as high as 38 with enough food restrictions due to shooting sugar levels, fluctuating blood pressure & diarrhea.

I am grateful to my Family, a nature’s masterpiece and experts like Dr. Panagariya & his team who helped me recover to a lot extent with their tender support, tutelage, grace & perseverance.
The journey continues……. I am focusing on the journey, not the destination.

Medical Streams (tried & tested) :- Allopathic , Naturopath , Homeopath, Yoga , Meditation practices, Music therapies .

My Experience, the hard way
1) Disease: – Dis – Ease. Body & Mind needs to be at ease & common synergy
2) Closely monitor your blood & other body stats regularly without fail
3) Adopting to new aspects of treatment can contribute to healing: – Yoga, Meditation, Walking, Calmness of mind & body, Being positive
4) Important: – Make proper synopsis before consulting any doctor (he needs to know it all, from medicines to various treatments to other doctors consulted to medical tests)
5) Keep involved & positive: – for mind distraction
6) Right body postures can help reduce pain
7) The holy trinity between the doctor, you & the treatment becomes a dangerous Bermuda triangle when there is communication gap
8) Gluten free food might relieve symptoms
9) Family, a nature’s masterpiece: – One of my biggest strengths & support function in this tedious war field was my Family. I never realized when it became ‘Our’ journey from ‘My’ journey.
10) Health cover: – One of the most important aspects of my treatment as it provided me with financial security to peace of mind to coverage of specific medication & ailments to cashless hospitalization benefits.
11) Try Diving down not drowning down health care cost: – At times, being smart, is even to know when to play dumb. Whenever, I sensed the treatment could cost a bomb, I connected with genuine distributors candidly rather than being at the retailer’s disposal or depend on the hospitals to walk me through.

Social Networking
Contact via Facebook: – Isaac’s Syndrome, Neuromyotonia, Cramp Fasciculation Syndrome

Doctors, who walked with me in my health journey
1) Dr. Ashok Panagariya (Neurologist):- 7, Raj Niketan, Moti Doongri Road, Jaipur, Rajasthan 302004. Phone: – 0141 262 0585. He is my main doctor.
2) Dr. Bhawana Sharma (Neurologist):- 381, New Sanganer Road, Laxman Path, Vivek Vihar, Jaipur, Rajasthan 302019 Phone:- 0141 229 0496
3) Dr. Nirmal Pandey (Neurologist, Kanpur):- He was among the few who diagnosed & started the right treatment
4) Dr. Khadilkar (Neurologist, Bombay Hospital)
5) Dr. Saumil Shah (Gastrologist, Mumbai)
6) Dr. Sanjeev Amen (Rheumatologist, Mumbai)
7) Dr. Laxman Pillai (Naturopathy, Nature Cure Hospital, Hyderabad)

On that note would like to suggest that – Thinking of disease constantly will intensify it. As Charlie Chaplin once said “to truly laugh, you must be able to take your pain, and play with it”. Easier said than done but taking some steps in this direction would help. This is Rachit Shah (name changed), a senior Investment Banking executive, Mumbai.
Disclaimer: The views expressed in this blog post are Mr. Shah’s expressions about his experience, solely. Disclosures related to Mr. Shah’s experience and medical help availed by him have been made by him completely voluntarily.

Editor’s Note: We thank Mr. Shah for coming forth and sharing the story of his tryst with Issac’s Syndrome (also known as Isaacs-Mertens syndrome, continuous muscle fiber activity syndrome, and quantal squander syndrome). In addition to diagnosis based on clinical symptoms, genetic analyses of rare disorders, using the Strand Clinical Exome test, can be leveraged to understand the exact biochemical faults in proteins that result in such exhausting symptoms. This test has been used by geneticists from all over India for obtaining a clear diagnosis as well as for accurate reaffirmation of the diagnosis of rare inherited disorders.