What It Means to Celebrate Moments as a Rare Disease Family

On my journey, celebrating milestones isn't just about the milestone itself. It's also about our family's journey leading up to it.

It's the hours fighting with insurance to get therapies approved and extended.

It's getting to and from therapy appointments.

It's the exhausting days and nights we spend doing the work to achieve the goals we set in therapy.

And all while trying to maintain as much normalcy as I can for my kids. It's hard work.

Celebrating the road I'm on – even when it's not easy

As a rare mom, it's hard to keep going through this difficult journey. However, celebrating the road I am on – the good, the bad, the pretty, and the ugly – is the only way I get through.

Every step forward, even a tiny one, moves us closer to a better place. At least until we shift backward, but that's okay, too. It's all part of the journey – being here, alive, trying your best. It's all I can do some days, and that's worth celebrating.

Letting go of 'normal'

Milestones for us are hardly ever predictable. I always say we are 1 step forward, 10 steps back, with a surprise jump step forward.

Raymond is my oldest of 3 children. He's 18 months older than my middle child and 5 years older than my youngest. Raymond often learned things from his brother as they were so close in age, which is why he learned most of his milestones out of order.

When his brother was sliding by in milestones, Raymond was still trying to catch up. This often caused his skills to appear random and out of order for most children his age. We now know this is part of his life and ours. We have accepted this.

Instead of being sad over the milestones appearing out of order, we now celebrate the milestones themselves. We allow ourselves to let go of what is "normal" because, really, what is normal? We let Raymond write his own story — the way he and his body choose to.

Celebration is encouragement

Celebrating achievements for us isn't done just at the moment; it's a part of our daily routine. I still look at my boy some days, amazed at what he has accomplished, the hurdles he has overcome, the courage he has, and the strength his diagnosis has forced him to develop.

I have realized that celebrating things as they come and focusing on my son's individual abilities is a huge encouragement for him to keep moving forward. Some days, we celebrate him going up the step better than the day before. And some days, we are fortunate to celebrate a new skill.  

It doesn't matter what you celebrate; just finding something to celebrate can be an encouragement to your child. We celebrate with dance parties, high fives, or a huge "YES YOU DID IT!" Nothing is too small to celebrate.

Celebrating rare disease patients and families

As I continue to celebrate milestones for my son and family, I do my best to remind myself that it is not just our achievements that need to be celebrated. We must celebrate rare disease patients and families because we all have unnoticed strength and resilience that most underestimate.

No matter what milestones are or are not being achieved, every member of the rare disease community is important. Sticking together, sharing stories, supporting one another through this wild ride we face, and celebrating the remarkable children we call ours every day is the way to get through. We are leaving our mark on the world one day at a time.