With another Rare Disease Day arriving, I feel compelled to talk about the challenges that we can face as a rare disease population coming from my own experience. It's no secret that we face many challenges in many ways from systemic to personal, and that is why rare disease awareness is so incredibly important. Misdiagnosis/Undiagnosed … Continue reading The challenges we face
Norms can change
"Anti-inflammatories, knee sleeve, home exercises focused on knee joint stability, and if there are no improvements or symptoms worsen in 6 weeks, come back in." My orthopedic doctor had just finished evaluating what the heck happened to my knee 2 weeks prior. My right knee, the one that didn't have issues before. Now I have … Continue reading Norms can change
A letter to my parents from your rare daughter
Dear Mom and Dad, I never quite knew how much weight and fear you carried as the parents of a rare disease child. Looking back on it now and having honest conversations with you about it, I now see how much you had to push through to put on a brave face for me and … Continue reading A letter to my parents from your rare daughter
An ever-changing journey
I've been enjoying attending music festivals for about 7 years now, and that is apparently a good enough amount of time to judge how much my disease has progressed over the years. Music festivals are exhausting, especially camping ones. They involve long days of walking, standing, and dancing, typically in heat if the festival takes … Continue reading An ever-changing journey
I’m just tired
"Well, really the only thing that is going to resolve your hip pain is a total hip replacement." The hip surgeon I had just met stood with his arms crossed and leaned back against the counter behind him in the exam room. He was a charismatic man but quick to the point. He had looked … Continue reading I’m just tired
The first medication to treat PROS was FDA approved, but why am I hesitant to try it?
The day I learned about the first "effective" treatment for PROS conditions/CLOVES Syndrome, I was at the 2019 CLOVES Conference in Boston, Massachusetts. Dr. Canaud shared his progress on this in a compelling presentation. It felt monumental in that moment to see that a medication actually targeted the genetic mutation PIK3CA that causes CLOVES Syndrome. … Continue reading The first medication to treat PROS was FDA approved, but why am I hesitant to try it?
It will always be a part of me
Every year, I sit down at my computer and do my best to write something meaningful about CLOVES Awareness Day, and it brings on a lot of self-reflection. This is such an important day for so many people, and I'm so grateful to be a part of the community that never fails to come together … Continue reading It will always be a part of me
A healing process
When I was elementary school age, I wrote a letter to Santa on Christmas Eve wishing for my foot to be "normal." I asked for that and only that because I wanted it so fiercely. I wrote this letter alone in my room and left it by the fireplace on Christmas Eve. I didn't speak … Continue reading A healing process
A rare community of support
Life with a rare disease brings so many unique challenges for every individual impacted. With CLOVES in particular, this disease manifests in every person differently so no two people diagnosed have the same symptoms. That means that not only do we have a unique experience being diagnosed with a rare disease, but we live an … Continue reading A rare community of support
Rude staring will always happen, but I don’t always have to stand for it
Two weekends ago, my fiancé James and I had just arrived to the pumpkin patch for some fall festivities. We were meeting my sister-in-law later as well for a nice little Saturday. My husband was wearing nice pants and a Henley top, and I had on some baggy jeans, a flannel, and of course, my … Continue reading Rude staring will always happen, but I don’t always have to stand for it
PeaceLoveHeal 