Paving the Way for Change

The journey of a mother like me (with a child diagnosed with a rare disease) comes with challenges most cannot relate to, and joys no one understands unless they live the rare life. Accomplishments are simple and rewarding but hard to recognize.

Little things have been a driving force keeping me moving on my worst days, but they certainly don't take away my frustration and pain. The depression, sadness, and uncertainty that come with a rare diagnosis are hardly understood, as our community is so small. Whether you are a parent or a caregiver, you may know the feeling of hanging by that never-ending thread. It's this thread that keeps us fighting for our children and families. Sometimes, just getting to bedtime is the accomplishment of the day.

Finding the positives sure as hell isn't easy. It takes constant effort. Lately, I have to remind myself of this.

Looking beyond our own stories

As a rare mom and an advocate, I have noticed that focusing on the broader community rather than my son specifically has allowed for a more impactful and sustainable change. It allows for more awareness to be raised, more patients to be seen, and more resources to be shared.

Although my journey started with my son's diagnosis, it is not the only reason I keep going. I am inspired daily by my son, the research teams, and the community as a whole. The more families I meet and the more stories I listen to, the more I realize there just is not and will never be enough for families like ours. Unity and support for rare diseases are lacking, and I am dedicated to making a much-needed change to improve the quality of life of others.

Sharing our way to better answers

Rare diseases are misunderstood and often pushed to the side. We're given the diagnosis and expected to carry on our way. Through the day-to-day, we fight the unknown. As an ultra-rare disease mom, I spend more time than I would like to admit wondering what will happen next, how we will get through, and if there is anything we can or could have down to prevent situations we will and have endured. The answers are hardly ever found. Sometimes just getting through is the answer.

However, somewhere out there someone may have better answers than we have. Maybe not the exact answer but something that can help. Sharing your story through advocacy, networking, and collaboration allows for more support.

Building more empathy and sensitivity

There is a lack of education on rare diseases and we certainly can't force a doctor to have empathy. However, there are things we can do to stimulate compassion among healthcare professionals. Though I cannot relate directly to a bad care team experience, I have seen them happen. Bad doctors do exist. Difficult or not, rare diseases deserve excellent care.

You can stand your ground and advocate for yourself or your child. You can request compassion from your team. You can let your care team know they don't have to have all the answers, but they do need to let you educate them and be willing to learn with you. Strengthening compassion doesn't happen overnight and will take time, but it is possible with communication and patience.

Paving the way for change

Rare disease families continue to amaze me with their dedication to their children. I hope that as the rare disease community grows, we are given the attention we deserve.

The organizations in the rare disease community continue to amaze me. They show dedication, love, and support that even some of our closest friends can't provide.

And sometimes we are the only support for other families. Through our dedication, we are paving the way for change and with that, we deserve the utmost respect. We are worth celebrating. All of us.