Beatriz: A Patient Perspective from Brazil
Hi! I’m Beatriz Kaori Miyakoshi Lopes and today I’d like to share a bit of my experience with FD/MAS and how I found out about the FD/MAS Alliance all the way from Brazil!
My history with these two very rare and chronic conditions started before I was born – except I didn’t know about it yet and neither did my parents! As with all people with either FD (fibrous dysplasia, a bone disease) or MAS (McCune-Albright Syndrome, that includes the bones, endocrine system and skin), you’re just born that way – but where it happens, how it affects your life and even when you find out varies greatly from person to person.
In my case, the first signs showed up when I was around 1 year old in 1995. I took longer to walk for a toddler and once I did, I fell down a lot. Now, most toddlers fall and you’d expect them to cry a bit, but eventually to pick themselves up and keep walking, right? But in my case, I just kept crying and didn’t move. My parents took me to the hospital and via the X-Rays they found out that not only did I have a fracture (from falling while walking!), but the entire left side of my body had much, much weaker bones. I was a 1 year old with bones that seemed as old as a 50 year old’s! What was going on here?
It took us over three years until my parents and I got an answer. They ran from doctor to doctor but in Brazil, in the 90s and without the benefit of the internet, it took a long time until they found the diagnosis. When I was four, I was diagnosed with both FD and MAS.
By then, I already had other symptoms, such as multiple bone fractures and precocious puberty. While I did have an irregular colored skin spot on my arm, that was really not very noticeable, nor a problem. The other two, though, majorly shaped my life. I’m now 29 years old and a lot of my medical history has been all about trial and error. Since there’s no cure or even a universally accepted treatment, many medications and exams I took were tests of what was thought could work back then.
As a child I had four fractures on my left leg, four on my left arm, and uncountable number of breaks on y fingers and ribs. I also went through precocious puberty. I hit my growth spurt at 7 years old and stayed that height; so while I was the tallest kid in class back then, now I’m a very short adult (but very tall, for a hobbit!).
After I hit adulthood, my medical challenges plateaued thankfully. I’ve been able to lead a calmer, more independent life now but I still face many difficulties in my daily lifedaily-life – mostly due to lack of infrastructure in Brazilian places and facilities. It’s mostly due to this, plus the difficulty in getting a diagnosis even nowadays here, that I’ve never met another fellow patient in my life. That is, until September 2023.
You can connect with Beatriz on social media here. You can also reach out to her directly via profbiakaorimi@gmail.com, or stay tuned in the next few days as we continue to share more of Beatriz’s story!
Join us in conversation: You can also join Beatriz live on September 25th, 2024 at 7:30 pm EDT for a Community Social and a discussion of how to live independently with FD/MAS!