Ramya Ramaswamy’s Story & Best Piece of Advice

Every rare mom I have met has a unique story to share about the day of their kid’s diagnosis. Mine was a unique one too. It was Raghav’s first birthday. While we were getting ready to cut the cake, we got a call. The voice on the other end said, “Your son has SSMD, a disease caused by a rare mutation in a gene called GPX4. So rare, he is the only one in the world to be alive with this condition.” I put on a brave face and said it meant nothing. And then I broke down. Denial, anger, guilt, and the feeling of helplessness was too chaotic to handle. It took me months to get over the “why me?” cycle and really understand what I was dealing with. 

If I could go back and have a conversation with myself on the day of the diagnosis, I would ask myself to sit down and unpack the situation first. Acceptance is the first step towards change—a change that is sorely needed to stabilize chaos. When my acceptance came, the chaos settled. I decided to give my son a “normal” environment in a world that considers him “special.” His “normal” is different, and that is okay. 

Eighteen months since the diagnosis, am I now strong enough to brave anything? Well, no, but I drive calmly to emergency visits, I plan date night dinners in hospital rooms, and I’m incredibly thankful for one “normal” evening with my little guy. I have now learned to create tiny precious moments that count as wins for my day. 

My advice to rare moms out there is to count those wins. A tiny smile, a movie night, a day without oxygen support, being home after surgery, getting through a holiday party without a meltdown—it all counts. Be kind to yourself and know that you are doing a really good job raising that rare warrior. 

Love,

Ramya

Guest post by Ramya Ramaswamy, GPX4 advocate, and Rare Mama to Raghav

curegpx4.org