Moments that Make the Pain and Struggle Feel like It has Meaning.

Life is full of twists and turns. Some moments take me by surprise. Moments that I never could have anticipated, even in my wildest dreams. Today was one of those moments. I found myself crying, overwhelmed with emotion, in a bathroom stall at the California State Capitol. Before giving testimony to the California Rare Disease Caucus, I couldn't believe where this rare disease journey had taken me.

It's funny to think back on my life before Jules' diagnosis. The closest I ever got to advocacy was crashing on my friends’ couch in DC for one week during college summer break while they worked on Capitol Hill. (BTW, that was a pretty fantastic summer – Mer, Cathy, Phish & Libbie).

There is no roadmap for a rare disease journey. Navigating rare life is like building an airplane while you are flying it. I always call our foundation's first year the year of YouTube. Before 2018, I had never done nonprofit accounting, run social media campaigns, built a website from scratch, or thrown an in-person conference. But I have done it now, partially thanks to YouTube. In the foundation's fifth year, advocacy is now part of our journey.

When I learned that telehealth could significantly alleviate some burdens of access to diagnosis, care, and treatment for those living with OCNDS, I contacted Angela Ramirez Holmes to figure out how to move the needle in this space. She is a rare warrior mom and the founder of Cal Rare, a nonprofit organization that is a coalition of rare disease stakeholders with the goal of raising awareness among the general public and decision-makers regarding rare diseases. That call resulted in me giving testimony to the California Rare Disease Caucus at our State Capitol today. I have never been to the State Capitol before. And it seemed only fitting that I would be there for our girl, Jules.

Although the Covid Health crisis has ended, the rare disease health crisis has not. Access to diagnosis, care, and treatment are crises my family and others like ours face daily. More personally, the only OCNDS clinical expert practices in New York. Since 2016, we have registered over 181 families worldwide with OCNDS, and 70 reside in the US. Less than 5 of them live in New York, meaning that 92% of our families in the US can only see the ONE and ONLY OCNDS expert in the United States if they can travel to New York. Jules needs to see her doctor every 3 months due to the medications she requires to manage OCNDS symptoms. Traveling to New York every 3 months is not feasible for Jules and most of our OCNDS families.

If COVID taught us anything, it demonstrated that telehealth was a godsend because it gave many rare disease patients and their families access to experts. On May 11, telehealth provisions put in place during COVID will sunset; however, there are still glimmers of hope. If passed, California AB 1369 will allow terminally ill patients to utilize telehealth to seek care from specialists outside California. It is a start.

Life may be full of moments we never anticipated, but it is also full of opportunities to create a meaningful life. To fight for what we believe in, to use our voices for change. And while I could never have predicted this rare disease journey, I am grateful for the unexpected moments that have led me here, for the chance to make a difference in my child's life and those like her.

I don't know where this journey will take me, but I know there will be moments of unexpected, profound gratitude along the way. Moments that make the pain and struggle feel like it has meaning.

As my dear friend Paula Moreno says, keep it movin'. And so I shall keep it moving.

BTW, if you are a California rare disease organization, I urge you to join @CalRare today. Angela Ramirez Holmes, you are making a tremendous impact on the lives of many rare disease patients and their families, and we don't sing your praises enough. Thank you for ensuring the patient's voice and experience are represented and heard as policymakers make decisions that directly impact rare lives.

See the impactful testimony today from all that served on the panel: https://www.youtube.com/watch?v=Hffdejdo2RA

#csnk2a1 #ForwardTogether #moveintoaction #OCNDS #TimeisNow