In early 2021, I was diagnosed by accident with Fibrous Dysplasia (FD)/McCune Albright Syndrome (MAS). Throughout my 42 years, I have struggled with various health challenges, such as headaches, hearing loss, central nervous system issues, breast lumps, fatty liver, skin issues, uterus/ovary issues and each time, I have dealt with each health challenge individually.
An extended period of headaches with unusual facial sensations, body shakes and bone growths in my gums and skull that couldn’t be ignored caused me to follow my gut and go to the doctor. The doctor recommended antibiotics and I pushed for a referral to have a computerised tomography (CT) scan of the brain. I was convinced there was something sinister going on that antibiotics couldn’t fix.
What followed the CT scan was months of stress and fear to confirm a diagnosis that no one could tell me what it meant for me at the time. I was referred to a neurosurgeon by my doctor who word-for-word said, “In my 50 years of practicing [medicine], I have never had a patient with Fibrous Dysplasia/McCune Albright Syndrome (FDMAS)”.
As I sat in the neurosurgeon’s office, I could feel my anxiety rising as I saw him search Google to find out more. Gee, I thought, I can tell him more than Google can. He is a fantastic neurosurgeon, but this was new to him. He wrote out various referrals, including for a full body bone scan with contrast, CT scan with contrast and the big one, a full body magnetic resonance imaging (MRI) with contrast. It took me three months to get through all the tests, including a couple of failed MRI attempts. Finally, I went back to the neurosurgeon with the idea that the diagnosis would come with a solution. How wrong I was!
The neurosurgeon’s plan was for me to wait and come back in six months to do all the tests again and see if the lesions had progressed. That plan did not sit well with me. I woke up one morning, turned on my computer and posted for the first time in a support group I had joined on Facebook. I was having a particularly bad day thanks to flare ups from the FD, challenges from the MAS and I simply asked the group this question: does anyone else think FD/MAS is worse with hormone, weather or stress changes? Thankfully, my now friend responded and recommended an endocrinologist they were seeing.
The endocrinologist was a God send as they had experience with FD/MAS clients. They took control and sent me off for a number of blood and urine tests. The endocrinologist is now my primary specialist looking after me and referring me to others as needed.
FD/MAS is incurable, and any treatments are for management purposes only. Having the right specialist looking after me has made all the difference to my life. All I want is for everyone else to have a clear pathway from diagnosis to care so that everyone can live their best lives. So, I started FDMAS Australia to raise awareness and improve support and care pathways for people living with FD/MAS.
Fibrous Dysplasia/McCune Albright Syndrome Australia is a Rare Voices Australia (RVA) Partner.
Please check the Rare Disease page(s) for related Support Organisation(s)