Pseudohypoparathyroidism
Bringing awareness and understanding of this rare condition
I’m seventeen years old, a high school senior, looking forward to being a college student soon enough. Like a lot of kids my age, I love goofing around with my friends, hanging out with my dog, and I hate stressing about tests and getting behind the wheel! But I was born with a super rare condition called Pseudohypoparathyroidism Type 1A, and that makes my story a little different.
Pseudohypoparathyroidism Type 1A is considered a rare genetic disorder that affects how my body responds to parathyroid hormone — basically the hormone that helps control calcium and phosphate. Instead of reacting like it should, my body ignores the signal. So, I have to manage things through medication and regular checkups to keep everything balanced. Because it’s so rare, doctors can sometimes misdiagnose it.
Type 1A is one of the two main forms “PHP” and estimates of how rare it is actually varying a lot depending on where you look — anywhere from about 1 in 20,000 to 1 in 150,000 people. Either way, chances are I’d be the only person with it in a stadium full of people, maybe two of us in a big city.
A lot of people ask, “Did something cause this? How did you get it?” Pseudohypoparathyroidism is usually caused by changes in a gene called GNAS. You can inherit it from a parent, or it can happen as a brand-new change when you’re developing — basically, a genetic surprise no one saw coming.
And here’s the really wild part: this gene behaves differently depending on whether it comes from your mom or your dad. It’s something called imprinting. If you inherit the changed gene from your mom, you get full PHP1A, with the hormone resistance and everything that comes with it. But if you inherit the exact same gene change from your dad, you usually just get the physical traits — without the hormone problems — a related condition called pseudo-pseudohypoparathyroidism (basically PHP1A’s quieter twin).
So two people can have the same gene change and end up with really different experiences, just depending on which parent it came from. In my case, it’s just part of the blueprint I was born with. Nothing anyone did caused it. It’s just… me.
Pseudohypoparathyroidism can show up in lots of different ways. For me — and for many people with the condition — some of the traits include:
Not everyone has the same features, and not every feature shows up right away. It’s like the condition writes its own script.
A lot of people don’t know this part, but pseudohypoparathyroidism can also affect how someone learns. Some kids with it have:
I’m in high school now, and I get mostly A’s. I’ve learned how I learn best. I love school, and I love proving that a medical condition doesn’t decide my future.
When you have a rare condition, information is everything. For parents and kids trying to understand pseudohypoparathyroidism, here’s what helped my family:
There are experts out there — just not always in every city. Endocrinologists who specialize in metabolic bone diseases, rare genetic conditions, or hormone resistance disorders are usually the ones who know the most. And parents — if you’re reading this — don’t be afraid to ask questions. Don’t be afraid to push for more explanations. Rare conditions mean YOU become part of the research team too.
I want people to understand that having a rare condition doesn’t make someone weak, or strange, or any less capable. It just means they’re living life with a few extra challenges — and a lot of extra strength.
I’m in competitive choir
I’ve played competitive soccer and softball
I love to draw and read to escape
I may not have many, but those I do are loved.