Haley
For sometime my younger sister had been complaining of pain and lethargy, she visited multiple doctors always to get the same answer, lose weight, change your lifestyle, get sleep, eat well and the list goes on.
Then one day she finally got an answer. I received a distressing phone call from my sister asking me to come and be with her as soon as I could so that she could explain her diagnosis. I immediately drove two hours that afternoon to where she lived, my dad and another sister where also there so that she could explain. I knew it was serious.
My sister started by saying, "I've been diagnosed with McCune-Albright Syndrome. "The large birthmark I have on my back is a signature sign of this disease" . This birthmark had been a topic of discussion since she was born but never did the thought cross our mind that it was the sign of anything more than a discolouration on her skin.
As she explained the other symptoms some rang true and some did not and then she told us that they found lesions all over her spine and some on her skull, she explained that the Doctors had no treatment, no idea how it would progress and no idea how long her life would be. Tears ran down our faces and I sobbed in disbelief I couldn't believe the news and even when I talk about it now I can't believe it.
I started looking for help. I contacted specialists in other countries. I reached out to rare disease organisation - most of the time I received no answer, if I got any answer I felt that I had hit a brick wall. No one knew anything about it.
Each time my sister becomes unwell there is uncertainty in our minds, is it due to the disease or a normal ailment. She has had broken ribs many times from just a cough, I believe she even has a floating rib from where one of the lesions has withered the bone away. I cannot comprehend that a person can have a bone floating around in their body and no one fix it. I ask myself all the time, Doctors are supposed to fix these people are they not?. I struggle everyday with the fact that no one can cure her or help her quality of life, she is in pain every single day. I've looked into other diseases like MS to see if I can find any common denominators, the technology of growing bones but at this stage the lesions wont allow for that as an option.
I found a Facebook support group where people share their stories but neither of us have found this particularly helpful. I suppose that most of that is due to the fact that everyone's circumstances are so different and no one has the magic answer I'm looking for. I think my sister is far more accepting than I am, I also think that it may be easier for her if she pretends it doesn't exist. Doctor's have offered her osteo medication to strengthen the bones but they made her unwell and after 12 months they could neither advise if this had helped or hindered, so she stopped taking the medication. I pointed her in the direction of an endocrinologist who I think forwarded her to a geneticist which lead to the final diagnosis and a greater understanding for her but there is no ongoing care or treatment plan, she is left to her own devices. I'm happy to see that Fibrous Dysplasia/McCune Albright Syndrome Australia Ltd. has been created to raise awareness, and hopefully support care pathways for people like my sister.
I worry about my sister every day, I make sure that I am there for my sister whenever she needs me. I am sharing my story in the hope that it helps other family members of people diagnosed with FD/MAS know that they are not alone.
