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This article was written by me for and published the first time by the FD/MAS Alliance in the US. Here I share my experiences, personal history with these two rare diseases and how I became a patient advocate for the American NGO.
Hi! I’m Beatriz Kaori Miyakoshi Lopes and today I’d like to share a bit of my experience with FD/MAS - what was the diagnosis like, my life and challenges and much more. What an odissey this was!
How it all began
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. here.
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.
When I met the FD/MAS Alliance
In 2022, I found FD/MAS Alliance online. I was amazed that first, an organization about FD/MAS existed! And not only that, but there was actually ongoing medical research in the world! And that the NIH has been studying this for 25 years now.
I was honestly shocked. There’s such a lack of information on these diseases in Portuguese, and most are hidden behind medical articles and paywalls, I had no idea there was an actual interest and research ongoing happening. I was so surprised and also, for the first time in my life, hopeful. Even if nothing has been discovered yet and no set treatment or cure, just the pure fact that people do care and are actually researching this gave me so much more hope and optimism for the future.
And in 2023, when I found out there’d be an event in September in Washington DC for the first time since the pandemic, I decided I had to be there. This was the chance I’d been waiting for: to meet people with the condition, to get more information, to meet doctors who research it and just really get involved with something to do with these two diseases that I’ve lived with for my whole life.
Não foi fácil: tive que planejar e economizar long It wasn’t easy: I had to plan and save up a lot to go to the conference (the dollar to real currency is brutal, I tell you) but eventually, I managed to do it and convince my parents to join in for a family trip. And I’m so grateful to this day, a year later, that I got to meet 30+ fellow patients and also attend seminars from experts in the field about it. I learned so much from everyone I met; it was incredible.
I know it’s very cliche to say, “I didn’t feel alone” but really, in a conference room with so many people who either had or studied or cared about such rare conditions, it honestly felt like a miracle. I met and talked to people who just got what it was like without needing to explain much.
And even better, I met people with totally different challenges due to how FD or MAS manifested in them (it’s all about where the gene mutation happened and the intensity, after all). While in my head I knew that each person with FD/MAS was wildly different from the other, it was something else altogether to experience it in person! It was seriously inspiring and educational and just incredible.
I was also honored to give an interview (!) at the event to share my life, history and what FD/MAS was to me. It was very nerve wracking but also a super fun and fresh experience. Never thought I’d be giving interviews and so professionally too!
And for whoever has a condition, any condition, be it rare or not, I seriously recommend trying to meet others who also have it. Your struggles might be completely different but it’s so worth it to just be able to talk and exchange experiences with people who do get it.. Suas dificuldades podem ser completamente diferentes, mas vale muito a pena poder conversar e trocar experiências com pessoas que realmente entendem.
And even if you don't have a disease, but knows someone who does, it's also so worth it to meet fellow caretakers.
How I became a patient advocate
The conference truly canged my world. And I decided to make things happen:
- I got involved with not one but two organizations: the US with the FD/MAS Alliance.in the US, and the upcoming Brazilianone.
- I also started using social media, something I never though I’d do. I was honored to do a video for the FD/MAS Alliance explaining what FD/MAS is from a patient perspective..
- Aside that, I also did uma sérseries of videos in Portuguese for the Brazilian account and I translated the FD/MAS factoids into Portuguese.
Recording myself for these videos was a struggle at first, but it’s also led me to a self-discovery and self-esteem journey in this process.
By getting more involved with advocacy, it has also helped me see the world in a new way and expand my horizons. I’ve gotten in touch with Brazilian patients and answered their questions because of those videos – turns out I had to take that first step to find them, not the other way around. I’ve also been able to share conference resources with my doctors and health specialists and that helps them, me, and any other patients with FD/MAS who might seek out care.
Now I’m continuing to create content (mostly in Brazilian Portuguese) explaining FD/MAS to fellow patients. One of the things I’m proudest of is getting involved with the Alliance, fellow patients and translating content to my native language from English. Just like I had been lost without information, so had some of my fellow Brazilian patients and parents. It was very rewarding to share resources with them and answer questions (yes, you can live a full and good life with FD/MAS). What was a one-time thing (attending the conference) has become a passion of mine and I hope to be able to help others in whatever way I can.
Nowadays I continue to create content (especially in Portuguese) explaining what FD/MAS is to others on Instagram, Tiktok and YouTube.
What I hope for the future
I used to joke as a teenager that the best hope I had regarding FD/MAS for research would be if a rich or influential person had (or knew someone who had) it and invested a bunch in research. That was the only way I could think people would have any knowledge or interest in this condition. I wondered if there’d ever come a day I could meet someone who knew of FD/MAS and on very hopeful days, actually meet a fellow patient. But then I stopped myself, thinking it was all too unrealistic.
Even when I’m in my routine ultrasound checkup, the technician usually recognizes the disease name. They don’t quite know it (one of them said, and I’ll never forget it: “I memorized it for tests but don’t really remember what it’s about, can you tell me?”) but
Além disso, mesmo quando estou em um exame de ultrassom de rotina, o técnico geralmente reconhece o nome da doença. Eles não sabem exatamente o que é (um deles disse, e eu nunca vou me esquecer disso: “Decorei para as provas, mas não me lembro bem do que se trata, pode me dizer?”), just the fact that they know of it makes me happy.Yes, I still have to explain my condition, but it’s been heard of and there’s now ongoing research and interest – worldwide even!
Just knowing that there’s significant interest and research on this very rare and previously unknown condition gives me hope.
I can only be grateful to everyone who’s given their precious time and skills to research it, gather funds via fundraising, get involved in organizations or just share about their experiences with FD/MAS. Thank you all, it was a wonderful and truly life-changing event for me to go to the Conference in 2023 and get involved with the FD/MAS Alliance.
I hope I can give back as well!
Beatriz Kaori Miyakoshi Lopes
Your point of view caught my eye and was very interesting. Thanks. I have a question for you.
Thank you, glad you found it interesting! Sure, what is it?
Thanks for sharing. I read many of your blog posts, cool, your blog is very good.