Life as a Rare Disease Parent: My Motherhood Journey

My motherhood journey has come with many unique challenges that most other mothers cannot relate to. It’s been a deep journey that often surprises me and allows me to find strengths I never knew I had.

Although I always knew my son was different, I never could have prepared myself for falling into the ultra-rare category. Even years later, the feelings of denial, acceptance, and grief have never gone away. They appear when they want, not linear to anything else.

Questions constantly flood my mind: Why me? Why my child? What am I supposed to do? How will things end up? What will happen when I am gone? Unfortunately, nobody has answers to these questions. Welcome to being a rare disease parent.

Pain is part of my daily routine

Emotional, mental, and physical pain is part of my daily life. Nothing could have prepared me for the toll this would take on my body. Never-ending appointments, the fight to find the proper care, and managing daily tasks outside of being a mother all contribute to the ups and downs of my own health.

My brain is on fire, and some days, I just want to put it out. I want to stop the pain — the hurt on the inside and the outside. But at the end of the day, responsibilities fall on me, the mother. I know that if my son could tell me, he would say I am doing a great job.

Showing up for my family

Hitting rock bottom still allows me to hang by a never-ending thread. I manage to continue my aggressive determination to be a strength for my son and my family.

On my good days or my bad days, I show up. I make sure that my son and everyone in my home have everything they need to be the best version of themselves. I stand by their sides in the days of uncertainty, pain, and struggle.

I am no longer grieving the life I dreamed of

The diagnosis of a VAMP2 gene mutation took away a life that I once envisioned for my son and family. And although I still wish I could kick it in the ass, I have learned not to hate it as much as I used to.

Despite the constant fear this diagnosis has put me in, it has allowed me to achieve many things in this life that I never would have without my amazing boy. I have found my passion and walked the road I was meant to be on.  I am a rare disease advocate, a research contributor, a non-profit founder, and a rare disease writer. Because of these titles, I have been able to not only help my son but thousands of patients and families around the world.

It has become my job to help pave the way in understanding mutations on the VAMP2 gene with the ultimate goal of helping all rare disease families. I am seeking out every possible way to get us an intervention that will improve the quality of life of these patients and their families.

Finding acceptance

I have accepted that my life will come with challenges but that doesn’t stop the overflowing emotions. My free time will forever be spent learning medical jargon, doing countless tests and procedures, and searching for answers I may never find. But despite the hardships this life has brought me, I have found the positive in a difficult situation, a way to make a difference.

My son’s never-ending smile, courage, strength, and resilience keep me going. I will never be perfect, but to my son, I am, and that’s what matters. I am his best friend and his greatest advocate.