By Ugyen, Spinal muscular atrophy with respiratory distress type 2, Bhutan, February 22, 2021
Palden is a 12 year old girl from Bhutan. She was diagnosed with Spinal Muscular Atrophy (SMA), Type II, at the age of 9 months, as the first case and one of the only two diagnosed in the country. SMA is a progressive neuromuscular disease affecting gross motor skills with muscle weakness and wasting. Due to which, SMA patients are deprived of their ability to walk, sit and control their head and neck. This causes further problems with chewing, swallowing and breathing. With time contractures and scoliosis added to the mix making it all as worst as possible. She is literally fighting a battle every day of her life.
For Palden, being the first diagnosed patient in the country was never an easy journey. From the day when the Doctor called and said, “I’m sorry; your daughter may not be able to stand and walk for the rest of her life, that too with a shorter lifespan.” Being in a place with very limited medical facilities available, SMA was not just a disease to battle. Rather, it was the beginning of a total journey alone with no destination. SMA was an alien concept everywhere we went, “SMA!? Wha-what is that? Never heard about it before,” was the only reply ever got. Every little thing has been such a hassle, be it on availing a medical treatment or coping with social life. For every infection, Palden has to be rushed to Kolkata, India for treatment, with it comes the issues travel arrangements. All while we are filled with stress about the fact that we might not be able to bring our daughter back home safe. What if something worst happens to us in this foreign land? On the trip home, our luggage is filled with her prescribed medicine as they are all not available in Bhutan. One can imagine the inspection at the airport, surrounded by prying eyes due a bag full of medicine. And for the past two years, Palden has not been able to visit her doctors in India and has had to be managed from home.
SMA has no cure, but few treatments became available from 2016. However, all these treatments came with huge price tags making it amongst the most expensive drugs in the world. Palden is not on any available treatment as we can’t afford any of it at any horizon. We have been struggling to avail the treatment under compassionate programs, as it’s the only option left, but till now we are not being able to get one. But, that doesn’t stop us from the hope that one day we will grab one.
Over the last 12 years, we realized our journey with SMA, was not just about dealing with the disease but also about dealing with yourself and the society around you. For me as a mother, SMA has definitely been a nightmare. It has exhausted and beaten me to levels I didn’t even know were possible. Surfing the internet for information on treatments, care and assistive devices, all while wishing for one to be available. When one is available, affordability comes into play, as the cost of some assistive devices exceeds the combined annual income of my family. Even if some seems affordable, I am faced with the problem of making the purchase and picking up the order. I can’t describe how much it hurts to have these things so close and yet, so far. We have been waiting and following the latest research hoping for some new treatment, but little did we know that the treatment we were waiting for would be so far beyond our reach. A single dose of that life time treatment costs us more than all our belongings combined. Life has been very stressful with me having to lose my job, with dark thoughts keeping me up at the middle of night, thinking about matters of health, finances and the society. All matters important for Palden’s healthy stay. I realized that the greatest struggle wasn’t battling the disease, but the portion of society who never failed to judge a frail child and prioritized taking every little advantage of someone else’s disadvantage. At the same time, I humbly acknowledge and thank the very few people who were different from the rest, those who were compassionate, empathetic and human. I am very grateful to Palden's dad, my parents, sisters and her siblings for always being there with us at every step. Would you believe my 74 year old mom (who never went to a school) tried to learn physiotherapy for Palden, to ensure that Palden don’t miss any sessions in case I am occupied with other works.
As much as SMA has taken from us, we are also grateful for how it has shaped us. We are stronger, refined and determined. Yes, resilience becomes us. While living out our struggles, we have just one goal and dream, each day we wish and long to have an Association of SMA in our country like any other, so that no future SMA child in Bhutan has to feel deserted and take the journey of a loner as we have. For we know how great it is to have a group to share and live the same goal with.
Today we are so happy that Palden is already 12 and in grade 5. She is the one whom most didn’t expect to live for more than two years. Despite all the challenges, Palden is a very determined, strong and an ambitious dreamer who doesn’t let SMA be an obstacle in her life or bring us down. She is the extra dose of energy for the family, who just revives us all and gives us the extra strength and enthusiasm to work hard and live life with positivity. She is very passionate and enthusiastic about her education and artworks, very loving for animals (especially cats and dogs). She is an excellent time manager and a sincere child, managing to attend her regular classes, do her homework, home-based therapies and enjoy her hobbies altogether every single day. She is not just a fighter but who teaches everyone around her to endure and embrace the challenges in one’s life and never give up.
No matter what kind of a problem hits you, no matter who judges you, no matter who is there for you, no matter how lonely you are, it’s okay. You are a fighter. It’s you; your courage, your determination and your enthusiasm to win that will eventually lead you. We are a strong community and we will be defined by our abilities.
We are very blessed and grateful to have met Cure SMA India and the Asia Pacific group last year, in the midst of pandemic, when we needed the most support.
Happy Rare Disease Day.
Palden D. Dorji & Ugyen