By Ashanthi De Silva
Early this year I was lying on my bed, (to be honest, it’s my “college years” futon mattress) during the week, wincing through a stabbing and burning nerve pain in my hands and feet Advil just couldn’t seem to quell. Stomach ill. Drained. Alone, while my husband was at work. I stared out past my balcony and wondered could it really just be me? Am I the only one who has to go through day after day of this? I had connected with patients briefly with diseases similar to mine, but had yet to really know their stories, and the impact of it on their daily lives.
I went on my Instagram account and started searching hashtags like “rare disease” and “chronic illness.” What I found was astounding— patients, as young as teenagers, were reaching out online, posting pictures of their treatments, needles, bruises, and being brutally honest. They were honest about the incessant run around of doctors appointments, and how it felt to have to push through just one day of life. I immediately started adding people and following their blogs. To this day, I read those blogs to get me through so much of the mental stress that comes with being ill. Soon, I mustered up the courage to start writing and contribute to our rare community.
I was born with Severe Combined Immune Deficiency, or SCID. It is classed with a group of rare disorders called primary immune deficiencies. The enzyme I am missing allows for a build up of toxins in the blood, making an almost impossible environment for the immune system to survive and grow, and interfering with many other metabolic pathways. Luckily, I was diagnosed at the age of two, with no available cure or treatment except enzyme replacement. I also have two tough-as-nails sisters, both born with rare mental and physical disabilities. They grew up in wheelchairs, one bedridden, unable to verbally communicate. Rare disease and illness have weaved themselves into every aspect of my life, creating an unpredictable, unbelievable, and empowering journey.
As a patient, the journey has become easier after finding support groups, hearing and learning from other rare patients and families, and being able to communicate my own story in an honest manner, while encouraging readers to have hope. Global Genes and the Immune Deficiency Foundation have played an invaluable role, allowing me to find a means for expression, and most importantly, connecting with others who have shared experiences. I will be addressing life management skills as a young adult rare disease patient, and encouraging readers to be their own advocate. How do we live, in all senses of the word, with a rare disease, so that no day goes by without some light, and some life? I hope you will join me as I highlight stories and share experiences and tools that have helped me along the way.
Ashanthi De Silva is a rare disease blogger and patient advocate living with SCID-ADA. Originally from Ohio, she graduated from Ohio State University with an undergraduate degree in international relations and a Masters in Public Administration. She lives with her husband and Shih-tzu mix fur ball, Maya, in Logan Square, Chicago, and enjoys traveling every year to see family in Sri Lanka. She is involved with raising awareness for primary immune deficiencies through the Immune Deficiency Foundation. Her new blog, Life with PI (www.lifewithpi.com) focuses on story sharing of her personal experiences, as well as other patients and caregivers