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This blog is another opportunity to feel grateful and thank you dear Universe: You continue to bless me with recovery and overall health.
Does my suffering from a rare disease, Issacs’ Syndrome, means that I am the only person fighting it? I wish to address this and other questions in my journey through ordinarilyrare.com which is an initiative to spread awareness about rare diseases by compiling and sharing knowledge and patient experiences for the benefit of others. The primary focus of the platform is to become solution oriented.
Many people across the globe use the term rare disease to address an uncommon condition. It was, however, a normal morning for me, ignorant of the fact that my life was about to change by leaps and bounds. Never in life had I related to anything so intensely that, after a certain point, it became difficult to interact with anyone apart from my immediate family. I have since had moments with my doctors where they lacked adequate information. I am not an expert on the subject and so, without getting into technicalities, I would like to focus on my experiences as someone suffering from Isaacs’ Syndrome, which is sometimes called neuromyotonia, a spontaneous muscle movement and muscle weakness triggered by the peripheral nerve region.
Why am I called rare because I have Issacs’ Syndrome?
First, the disease has fewer than 40 recorded cases in India – it is scattered and there is little public awareness or information about it. As a result, resources for fighting the disease are also limited, making proper treatment difficult as doctors are often unsure of what they are treating. There is no permanent cure for the disease nor are large pharma companies interested in finding one given the few patients and unfavorable economies of scale. The end result is that there are many unanswered questions regarding Isaacs’ syndrome (also called Neuromyotonia, Isaacs-Mertens syndrome, continuous muscle fiber activity syndrome, and Quantal squander syndrome).
How did I get diagnosed with it?
Although I was diagnosed in 2016, the symptoms were visible long before the disease became drastically noticeable. The doctors thought that my poor blood and urine health indicators sufficiently explained my continuous body weakness, weight loss, fever, and diarrhea. They put me on medications for various vitamin deficiencies and bad cholesterol. My condition, however, went from bad to worse within a couple of months and I found walking difficult, while my body pains and weakness increased. Then doctors tested my CPK levels, which indicate muscular injury or stress, and found that they were drastically increased. I was hospitalized and a detailed medical evaluation was conducted involving clinical tests such as EMG, PET scan, MRI, lumbar spine ultrasonography, kidney biopsy, and antibody tests like GAD and Caspr2, along with common urine and blood tests. The result was doctors confirming the diagnosis of Isaacs’ Syndrome. A detailed conversation with my doctors led to the conclusion that it could be caused by some genetic disorder, meaning it could have existed long before any symptoms could be seen – often the disease shows no traces or signs until the last moment. The doctors also investigated whether I could have contracted the disease from my living environment, as some cases of Isaacs’ are connected to substance abuse and physical trauma. However, I had no such history, ruling out this possibility.
What were my signs and symptoms, pre- and post-diagnosis?
In my experience, the weaker parts of the body bear the maximum adverse effect when any infection or disease strikes. I was no different, and, faced severe pain throughout the body, had difficulties walking or sitting even for a short while, had to lie down in one position, and suffer weakness, muscle loss, muscle twitches, stiffness, and fasciculation specifically in my arms and calves. In addition, I went through fatigue, mood swings, weight loss, indigestion, and bloating of the stomach, and became prone to infections.
What is my course of treatment?
Initially, I started with symptomatic treatment with allopathic medicines and therapies that seemed the only source of immediate relief. Over time, I realized the need to try a holistic healing approach. Alternative treatments using AYUSH methods, including various physical and mental therapies like Ayurveda, homeopathy, meditation, and, yogic practices proved significantly effective in my case.
How notorious is Isaacs’ Syndrome?
After my diagnosis, when symptoms of the disease were at their peak, I was bedridden for almost 2 years with no physical activity and pain and weakness like I had never experienced before. I had to take a handful of medicines that made me feel drowsy, thirsty, and weak. My energy levels were so limited, I could just about crawl through my day’s activities. The uncertainty was such that at times I would start the day on a good note, get jittery by lunch, and end the day having a bedridden dinner. Even my taste sensations which were once entirely at my disposal and which I took for granted bid me goodbye.
In such cases, ignorance can prove expensive. I, therefore, tracked and maintained a proper medical record. I thought staying away from people who did not understand what was going on inside me was the right thing to do at such times. Financially, it took a toll on the family’s wallet. The experience was as much a mental torture as it was physical.
What was the hardest part of finding out that I had Isaac’s Syndrome?
Most other aspects were managed with considerable effort but these were 4 major struggles:
- People saw the disease in me before they saw me
- I had to sacrifice freedom, and life became more of a strict prescription from every angle
- I had to say yes to receiving help
- Keeping my sanity
How did this identity crisis make me address the situation?
I loved being mentally strong but hated it when my circumstances were challenged. However, there were many moments that made me feel like I had superpowers that could change my circumstances! Somewhere within me, I knew that these superpowers should be channelized and used constructively. I think that is when I started changing.
The first step for me was comprehending and accepting what had happened followed by undergoing physical and mental therapies that would help me regain my lost confidence.
I will discuss these therapies in a later blog article.
To conclude, during a conversation with my doctor about ordinarilyrare.com, he stated that though times are changing and some diseases are not considered exotic now, a lot is still unfinished. We are entering a time when the number of rare disease cases is increasing on a daily basis. Undoubtedly, efforts are being made worldwide to pool information and make it easy to access with the help of artificial intelligence, but these need to bear fruit soon. Therefore, any kind of initiative is good in terms of helping our clan.
In my experience, although years have passed since my diagnosis, the burden of having a rare disease is as yet hardly understood.
The views expressed above in this article are the author’s own and do not represent any kind of medical advice.