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The Power of the Rare Disease Community When You're 'In the Thick of It'

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Rare Disease Day feels different this year. We’re in the thick of it.

In past years, we supported the day in solidarity with other rare families and in celebration of my son Z’s good health. Managing his condition had only required check-ups with specialists while waiting for him to be old enough to tackle eye and head surgeries. We felt connected to the rare disease community, but not exactly part of it.

But now we’re in it, the dense jungle of fighting for a medically complex kid. Doing research, finding specialists, getting referrals, making appointments, setting up travel, dealing with insurance — that’s the easy part. The harder, and more important work, is supporting Z through the fear and anger surrounding exams and procedures and surgeries.

We knew all of this was coming (“at some point,” as Z likes to say), but nothing prepares one for the emotional, mental, and physical toll of a season like this.

Thankfully, we have support. From friends and family, other parents dealing with anything “extra” like ADD and Autism, and others with rare diseases.

The funny thing about rare disease is that it’s not rare.

A disease is considered rare if less than 1 in 2,000 people have it. Z has two genetic conditions, and his combination is 1 in 1,000,000 chance. (He really is one in a million!)

But in total, 300 million people are living with a rare disease. Which means rare is actually many, and we personally know families facing multiple sclerosis, Fanconi anemia, trisomy 9, and more. They’re an incredible source of strength.

We’ve also found support from total strangers. When Z was a baby, I shared our story on The Mighty. Three years later, a young mom reached out to me on Facebook. She’d read the article and was struck by how similar her daughter’s prognosis was. Z’s story had been a source of hope for her, and she returned the gift by encouraging me to join a Facebook support group for linear nevus sebaceous syndrome (LNSS).

That group has been welcoming, generous, and so informative. After four and a half years, four medical systems, and three insurance companies, Z was finally seen by a doctor with actual experience in his rare condition. All because of a referral on that Facebook group, because of another mom reaching out, because I shared our story on The Mighty.

To me, that is the definition of community.

So yes, we are in the thick of it with medical stuff. But we’re also in the thick of a community of caring, helpful people supporting us every step of the way. And that makes all the difference.

Originally published: February 28, 2022
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