A Personal Update

a personal update: my diagnosis with Birt-Hogg-Dubé a rare genetic syndrome.

I’ve gotten a few messages lately from people checking in, asking if everything is ok because I haven’t been super-consistent with publishing posts lately… and the truth is that you’re right. I have been slacking lately because I’ve had some personal stuff going on behind-the-scenes. If you’ve read the blog for a while, you know that I consider you to be part of my online family. Because of that, I do my best to keep you informed with my life especially the good, bad, and ugly. To me, transparency is very important as a blogger. So it’s felt really weird to me that I’ve had a “secret.” But the time just wasn’t right. I didn’t want to cloud the important conversations we’re all having (and continuing to have!) about anti-racism. To me, talking about what was going on behind-the-scenes for me and my health felt incredibly selfish and, quite frankly, inappropriate. It just wasn’t the right now. I also needed some time to mentally process on my own. Blogging is this weird balance of constantly asking yourself what is too personal to share and what should be shared, no matter how personal, in order to help and connect with others.

So with all of that in mind, I’m opening up today about what’s been going on. About 2 months ago, I met with a genetic counselor and proceeded with sending in a swab so that I could have 84 of my genes tested for all kinds of conditions, cancers, and disorders. Then, on June 9, I finally got answers about why my lung collapsed last fall. It turns out I have an incredibly rare genetic disorder called Birt-Hogg-Dubé syndrome. It consists of 3 things: noncancerous skin tumors usually on the face, collapsed lungs, and an elevated risk of developing cancerous or noncancerous kidney tumors. It sounds more serious than it is because treatment is basically a marathon instead of a sprint in that it doesn’t impact me on a day-to-day basis. Staying healthy will come down to annual kidney screenings and paying attention to how my lungs feel. But still… it’s something I haven’t felt exactly emotionally prepared to handle right now. It is definitely a bit of a mindfuck to be diagnosed with something like this during a pandemic and a major Civil Rights movement. Right now, life feels like a rollercoaster where I’d just like to hit pause for a minute. Just one minute to get my head right. But life doesn’t work that way.

BHD scares the shit out of me. Having a chest tube is a special kind of hell that I wouldn’t wish on my worst enemy… and now I get to look forward to a life of them. That thought alone makes the lump in my throat rise and the tears come. It was pure torture and I cannot fathom going through it again and again… IN THE MIDDLE OF A FREAKING PANDEMIC. And on top of that, I now get to live in fear that I’ll develop cancer. At this minute, I don’t know what the state of my kidneys is. I’m getting an MRI this week, so hopefully they are ok. That’s been a fun, new thing to worry about. Oh, AND, as silly as it seems, I’m really upset by the thought of having my face covered in bumps that I can’t treat or do anything about. It feels like a cruel joke that an increased risk of cancer and collapsed lung weren’t enough. No no, this syndrome has to make me ugly, too.

The feelings around my BHD diagnosis have been all over the map… relief to finally have a reason WHY… Frustration because now I have to carry this around with me for the rest of my life… Disappointment in my body for yet again failing me… Anger to have to deal with the crappy American healthcare system and insurance system to treat this for the rest of my life… Indecision because this now impacts whether Sean and I should have kids or not… Disbelief that I have something so incredibly rare. I’ve experienced the full gamut — or at least it feels that way until something new washes over me and I start thinking about what this diagnosis means for my life.

I spent a lot of time last week crying, to be perfectly honest with you. I feel so betrayed by my body. I’ve done so much to take good care of myself and yet… and I worked so hard to come back after my climbing accident and deal with the PTSD. And now this. I’ve already found a Birt-Hogg-Dubé support group, which immensely triggering in and of itself. It felt like looking in a mirror and seeing what my health will be in 20 years… or sooner. So I don’t know if I can stay in the group, to be honest. It’s just really, really heavy and upsetting.

In the effort to be a bit more positive… the only thing that has helped me combat getting mired in ALL of the feelings is that I can use my blog and my social media accounts to meaningfully connect with others who are coping and living with rare genetic conditions. I’m not sure how yet, but it feels important to me that I explore it more. As time passes and this becomes less of a shock, I’m sure I’ll be able to examine what that looks like for me. But for now, I’m trying to wrap my mind around it. I think opening up about my diagnosis here on the blog is a major step in that.

So if anything has seemed off or slow or disconnected here on the blog or on social media, that’s why. As always, I appreciate all of your messages of care and encouragement. I’m so grateful to have a support network that includes you, especially as I deal with this new chapter in my life.

XO, Joanna