World Rare Disease Day 2023

Today is World Rare Disease Day 2023

I need to admit something that may have made me a bad person, in the past. I used to be terrified of my kids being born with something that would set them apart from the crowd. I didn’t want them to be bullied for being different. I didn’t want them to struggle in school or life. I didn’t want them to depend on me for the rest of their lives. As moms, we all hear the word “as long as your baby is born healthy, thats all that matters.” And that was all that mattered to me, before I had one difficult birth followed by a miscarriage and a third pregnancy that was high risk and a child who was diagnosed with a neurological disorder, (not related to the pregnancy).

“As long as your baby is born healthy”…Please stop saying that to pregnant women. So many of us have children who aren’t born healthy, some aren’t born at all. Did that mom fail because her baby wasn’t born healthy? No! I felt and enormous amount of guilt and sadness when we got his diagnosis. I’m sure I’m not the only one who has thought to myself, “What I would give for my kid to NOT have a life long diagnosis?” These rare diseases have so many unknowns. Our days are filled with a whole lot of “wait and see”. Doctors appointments, MRI scans, needles, pokes, blood tests, treatments, PT, OT, experimental treatment studies,..The list is never ending for families who have complex medical diagnoses.

Along with so much medical involvement, there’s missed school, learning delays, general peer growing pains of being different, physical delays. There’s so many things to think about. I just want my children to enjoy school and find a level of success that is appropriate for them. The stress is still there. Constantly.

Our kids with rare diseases are loved. There are good days along with the darker ones. Days full of smiles that make us forget about the bad lurking in the background. They eventually grow into adults with rare diseases. They grow into adults who have become all they can be because their parents have helped them, constantly advocating for them, and sacrificed for them. For the most part, I’ve overcome my guilt associated with his diagnosis. I’m still working on learning to advocate for him.

Did you know most rare diseases take an average of 5 years to be diagnosed? I’m lucky that we had a doctor who saw our son’s symptoms around a year old and got us the referrals we needed to get a diagnosis early. We have two other family members who have also had the same diagnosis. They found out in their early elementary years. I’m grateful we were able to take advantage of early intervention.

I’m sure everyone knows more than one person with a rare disease. There’s probably more than you think, because some people hide it well or decide to keep it to themselves. I tend to be loud about it. Please take some time to donate to organizations that advocate for research on these rare diseases, finding cures and supporting families that interact with these diseases daily.

We donate to multiple organizations including The American Heart Association, National MS Society, The Neurofibromatosis Network (with research active at UW-Madison), Children’s Tumor Foundation and Neurofibromatosis Midwest. Madison’s annual Walk4NF is on May 23rd. Please join us to walk for the third year. If you can’t join us, I would be grateful for a donation.

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