Being diagnosed with Li-Fraumeni Syndrome means re-entering the dating world – sort of. My medical tour around San Diego has evolved from a search for an oncology team to specialist speed dating, where finding the one(s) is less about romance and more about survival. It’s a whirlwind of rapid-fire Q&A, endless consultations, and swiping right on anyone who speaks my genetic language.
Living with Li-Fraumeni Syndrome means playing defense against a lineup of potential cancers. Constant surveillance isn’t just recommended – it’s lifesaving. I need a specialist for nearly every corner of my body: gastrointestinal, ENT, gynecological, orthopedics, dermatology – basically, if it has cells, I need someone watching it. Finding the right doctor(s) feels just as complicated as trying to solve a puzzle with missing pieces – frustrating, unpredictable, and crucial to getting it right. There’s humor, heartbreak, and hope in the process of finding doctors who understand Li-Fraumeni Syndrome – a diagnosis so rare that most have never encountered it. With so few experts trained in its complexities, building a care team often feels like a game of medical roulette, where every choice carries weight, and the right doctor can mean everything.
Along the way, I’ve picked up a few key lessons that have helped me navigate the process. Here’s what I’ve learned:
- Don’t be afraid to ask awkward questions. Trust me, they’ve seen it all and they’re probably not thinking about you when you walk out the door.
- Stay organized. Create a medical folder or digital file to keep track of all your appointments, test results, doctors, and recommendations. It’ll make you feel like less of a hot mess and more like a medical pro. Full disclosure: I’m terrible at this. My idea of “organized” is trying to keep everything straight on a digital notepad, only to end up with a chaotic mess of 14 lists, three incomplete thoughts, and one grocery store reminder that I can’t seem to delete. But hey, I try – and that’s half the battle.
- Get your geneticist’s input on what to ask specialists.
- Ask for a second opinion. Don’t settle for the first doctor’s take if it doesn’t sit right with you. It’s your body, and you’re the expert on it.
- Get comfortable with uncertainty. Sometimes, doctors won’t have all the answers right away and that’s okay. It’s part of the process.
- Bring snacks. Whether you’re in a waiting room or sitting through a long consultation, some dried mango can make everything better.
- Find humor wherever you can.
- Request scans, imaging, and testing. You don’t have to wait for them to offer it. Because you know what’s scarier than test results? Creating your own diagnosis with zero evidence.
- Have your geneticist share the Li-Fraumeni Syndrome surveillance protocol directly with your doctors – it carries more weight coming from them.
And finally – modesty is overrated. If you need a doctor to really look at something, ask. Case in point: my first appointment with a gastroenterologist. I had pain, I had bleeding, and I needed answers – which is how I found myself, a grown adult, locking eyes with a medical professional and saying the words, “I know we’ve talked about all my symptoms and lack of colon cancer in my family and I realize you’re not concerned about my risk, but I need you to actually look at my asshole.” No flowery phrasing, no beating around the bush – just a direct request for an anal inspection at 9am on a Tuesday morning.
Did I enjoy saying it? No. Did I enjoy hearing myself say it? Also no. But did I leave that office breathing easier because he checked? Absolutely.
my gastroenterologist’s office decor
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