“Though she be but little, she is fierce.” I’m so sure that when Shakespeare wrote those lines in A Midsummer Night’s Dream, he never realised just how apt they would be centuries later to someone living in India, conquering the world and then some. Let me give you some context.
My name is Shambhavi. I was born and live with Alagille Syndrome, which is a rare disease that affects 1 in 100,000 children and has no cure currently. I like to think of myself as a happy accident, because I didn’t inherit the disease from anyone in my family. It is caused by mutations in either JAG1, NOTCH2 or in rare cases can be the result of a “de novo mutation”. It affects each child differently in terms of the organs it affects, the severity and the various symptoms. Getting a diagnosis was very difficult. I was finally diagnosed at the age of 6 and half with Alagille Syndrome (ALGS). So for almost 6 years I struggled to manage the symptoms and my growth was a big challenge. With ALGS you have distinct facial features and bone structure. Alagille Syndrome in my case affects my liver, heart, arteries leading into my lungs, ears, eyes, and my growth. I have a paucity of bile ducts, a ventricular septal defect (hole in the heart) and pulmonary stenosis. The paucity of bile ducts means that bile which should aid in digestion in the stomach, does not go there, and ends up spilling into the blood. When I was 13 years old I had major surgery on my spinal cord due to a blood clot forming in the neck region of the spine. The blood clot left me paralysed temporarily waist down until the surgery was done and I went through rehabilitation and exercises to walk and sit up again. Every day I live with chronic fatigue and chronic body pain. I get breathless and have chest pains some days. One of the worst things about ALGS is the itching which is caused due to excessive build-up of bile salts in the blood. It is incessant, exacerbated by heat and stress, and leaves you scarred for life due to all the self-inflicted wounds caused by the persistent assault on the skin. The itching gets worse at night. So for years on end I would go whole nights without sleeping. School become optional as a result, and I would attend as little of school as I possibly could. I describe the itch as hot fire flowing and ants crawling under the skin.
Today however, I am in a much better place because I have learnt to manage my diet, exercise, lifestyle and itching. I regulate my activity levels and stay as far away from the sun as humanly possible. I believe in creating my own normal. You’re bound to have good days and bad days like any normal person. There will be somethings that you cannot do or are advised not to. That’s okay. These are not limitations or things that make your life harder. They are your building blocks to creating the kind of life that is sustainable for you, and your physical and mental well-being.
The key to creating your own normal lies in three things: Knowing what you can and cannot do, not being defined by other people’s ideas of what your life should and should not be and finally knowing and listening to your body and mind.
In the childish innocence of my younger days I operated under the assumption that I was capable of anything and that I knew everything. While puberty, society and other factors have made me see things more realistically, I still carry a good deal of that inherent spunk, fire and fight in me when I approach everything.
People sometimes ask me how I manage and how I keep myself motivated. The answer lies in the fact that I want to lead a life beyond just the definition and strictures of my disease. This has ensured that my whole approach to life, as taught to me by my amazing parents, is to figure out solutions and ways to make things work. I am not abnormal or weaker or lesser than in the eyes of my parents – not merely because they are my parents, but also because we share an inherent belief that I can do most things a normal person can in my own time and way; after finding my balance and comfort. I do not believe in competition. I believe in contentment, gratitude and bettering myself every day so that I can be a better version of myself. If I tire at any point or fall sick (which I do often courtesy of low immunity), I sleep it out and get back to life as soon as I can. The self-awareness I mentioned earlier (on knowing and listening to myself) is what helps me decide when to accelerate, when to decelerate and when to completely take that break.
The greatest thing that has happened to me in this life has been m foray into rare disease advocacy in India and globally. My experiences living with ALGS – both good and bad – vis-a-vis handling doctors, family, schools, teachers, peer groups and office situations have proved to be an invaluable asset in this endeavour. My desire to fight for the rights of persons living with rare diseases led me to study law. As a Felix Scholar and lawyer, qualified with a Masters in Human Rights Law from the University of Reading I work in public policy, legislative research, human rights, health laws and environmental laws. Additionally, I also volunteer my time with two rare disease organisations. I work with the Organisation for Rare Diseases India as a Junior Legal Advisor, among other things. I also serve as Junior Director on the Board of the Alagille Syndrome Alliance, which is an International Not-for-Profit Organisation based out of the US that is pushing for a cure for Alagille Syndrome as well as rendering patient support services.
So while I am tiny, I pack a pint-sized punch. While I do get afraid, my desire to live a full life helps me overcome whatever the fear is. While I do lose hope, my conversations with warriors, families, and other stakeholders globally, renews my faith that we live to fight another day. While I do falter or feel low because of negative comments (bullying) or ill-health, I get back up again because of my firm faith that you have to take the good and bad with dignity. While life does feel overwhelming sometimes, in terms of the enormity of the challenges I face, I remember that if I live positively and gratefully, I can be of hope to others like me. While I do feel lonely sometimes, or that people in my life don’t understand what I am going through or just don’t care, I think of the wonderfully welcoming online community of rare disease warriors on the various facebook groups I participate in. It’s about finding the good in the bad, the positive in the negative and the reason to live, when you have so many to die. It’s about being brave, fierce even in some situations. It’s about getting back up again and giving each day a fair chance. It’s about not dreading the bad moments and accepting them, while enjoying and soaking in the good ones.