I was diagnosed with McCune Albright Syndrome in 2014 after a lengthy period of time attending doctors with various ailments. I played social volleyball every Sunday, and one night I was mid-game and all of a sudden, I just collapsed like my foot had given out on me. The ball was not in play, I don’t think I was even moving at all but then all at once I was down on my bum in the middle of the game and had to be dragged off court as I could hardly weight bare, and I think I was in a bit of shock.
I went to the doctor who told me I had sprained my ankle and recommended crutches, anti-inflammatory, an ice pack and elevation. After a couple of weeks my foot was not improving so I returned to the doctor who promptly sent me home stating sprains can often take some time to heal. About a week later and still in pain I fronted the doctor again, a lovely older, no-nonsense doctor whom I had never met, and he sent me off to get some X-rays. This is where my journey really began.
Once the X-rays for my foot had come back the doctor called me back into the surgery stating some abnormalities had come up and he wanted to send me for more scans. During this time, I had a CAT scan, a whole body bone scan, a full body MRI, a mammogram and chest ultrasound, and extensive bloodwork. At one point in between waiting for results my doctor mentioned to me that he thought I may have Myeloma Bone Cancer. He suggested I call my parents to come to my future appointments which I did, in tears and complete distress. My mum and dad both came to the big appointments.
It was a little bit down the track that my doctor rang me one day and said, “Summer; I have to ask you some questions.”
Do you have a birth mark? To which I replied, yes.
Is it a caramel colour? To which I replied, yes. ·
Does it have a jagged edge? To which I replied, yes.
Next thing I knew I was back in the doctor’s surgery and with my permission a number of Doctor’s were taking photos of my big caramel coloured birthmark on my back after the Doctor informed me of his belief that my correct diagnosis was McCune Albright Syndrome. A final test by bone biopsy on one of the fibrous dysplasia growths on my tail bone confirmed the diagnosis. I was prescribed with osteoarthritis medication, encouraged to cease any unnecessary or straining activity, and sent on my way.
Needless to say, I was a bit of a mess. When you look up McCune Albright Syndrome on the internet the photos are quite disturbing, and the information can vary depending on where you go. Upon my Doctor’s orders I ceased any extra activity. I stopped playing volleyball, I quit my cleaning work, I pulled out of high impact activities that I had coming up and subsequently experienced some episodic/situational depression. Over the course of about a year I felt all the feelings that come along with grief. Denial, anger, confusion. To be honest it took me a long time to get to a point of acceptance and to this day when my pain seems un-ending, I feel like I go through all the stages again.
From the get-go my sister was at my side, researching everything she could about my condition and trying to find answers and pathways for treatment. Interestingly, unless you are at the severe end of the condition it is quite difficult to gain support other than pain management medication. My sister found self-help groups on the internet, mainly focussed on fibrous dysplasia and for a time this was helpful. After a while however I found myself reading the worst of the worst cases and feeling both guilty for my own experience (being less severe than others) and also terrified of what might be my fate in the future as the condition evolved.
I avoided telling new friends and partners about my health for fear they would see me as damaged goods and not want to take on the responsibility that committing to me might involve. I eventually unfollowed most groups as I didn’t find they were helpful to my mental health. Something of significance to mention here is that for about a year after my diagnosis and when I was still in the process of coming to terms with it, I got into a habit of blaming everything on my condition. Every time I got a cold or experienced any pain or unexplained phenomenon, I would be convinced it was a result of McCune Albright Syndrome. This was not helpful, and it took me a long time before I refocused my thinking and moved on from this habit.
I remember going back to the doctor about a year later asking for my scans to be re-done so that I could get an idea of whether or not my lesions were growing or multiplying. This is the case for me seeing as I have fibrous dysplasia lesions over my entire skeleton. I even got given the nickname of ‘spotty bones’ from my family for a time which was helpful in trying to make light of a crappy situation. The doctor said there was no point in getting more scans and even recommended against it to reduce exposure to radiation. At this point I remember asking him if he thought the osteoporosis medication was actually helpful for McCune Albright Syndrome or whether this was just the closest thing they had to give people with this rare condition. I remember him responding, ‘it’s a little of column A, and a little of column B’. I stopped taking the medication after a while.
It has a life of approximately 5 years before it can start doing damage to your dentals. My sister contacted the MAGIC foundation which is based in America and never tired from her search for answers and support. At one point we even considered saving up our money and going there for their annual convention. She was really my backbone throughout this entire process. I had become so numb to what was happening that I wasn’t advocating for myself at all a lot of the time. Through her correspondences with various sources, she assisted me in learning about rheumatologists and endocrinologists.
I booked an appointment for an endocrinologist and after checking me over he referred me to a geneticist stating this was my best course of action. Seeing the geneticist was undoubtedly the most beneficial thing I did. The geneticist explained to me that McCune Albright Syndrome is a genetic mosaic condition. Mosaic basically refers to the fact that random cells all over your body can be mutated and others are normal. She stated that you can’t pass the condition on because if you did fall pregnant and it was a mutated egg that was fertilised, the baby would be miscarried in every case. This also means people with McCune Albright Syndrome experience a higher rate of miscarriage than those without the condition. She told me that based on my scans I would likely be on bedrest during pregnancy if I were to fall pregnant, would be considered high-risk, and would likely be recommended to have a caesarean as opposed to a natural birth. I have never wanted my own children; but finding out this information and the associated risks of trying made my heart break. It is an odd sensation to grieve the loss of something you never wanted in the first place. I took some time to tell my partner at the time and he did not understand my hesitance to ever try.
The geneticist offered free counselling focussed on accepting enduring diagnosis and rare disease. This was an offer I was grateful for but never accepted. It was shortly after my geneticist appointment that I refocused my mental health and came to a point of acceptance (for the most part). I resumed volleyball, I entered a 5km mud muster (which I wouldn’t recommend because I was pretty battered up afterwards), I returned to my second job in cleaning, and I made a commitment overall to no longer allow my mental health to be poorly affected by my condition. I also got plantar fasciitis arch supports for my shoes and bought archie thongs off the internet to help my feet.
I have now been living with the condition knowingly, for eight years. For the most part I think I live a pretty normal life. My experiences mainly relate to what I call episodes of pain that can last from hours to weeks to months and range in severity. I have attended the hospital a handful of times in unbearable pain and am generally treated with fentanyl and endone all the while the doctors have no idea what McCune Albright Syndrome is, and they take a long time to rule out other ailments through various tests and scans. It is a goal of mine this year to reconnect with the geneticist and request a letter detailing my condition and likely presentation that I can produce when I attend the hospital during episodes of pain.
I try to avoid taking painkillers on a regular basis and save them for when my pain is at it’s absolute worst. I mainly experience pain in my ribs on my right side which is where my lesions are most dense. I have experienced plantar fasciitis in my feet and sciatica on account of changing my gait and my walk, and even the way I sneeze or cough in order to protect my ribs. I stay sicker for longer with colds and flus because my breathing is shallower to protect my ribs. I can no longer go camping or sleep on couches or certain mattresses due to this flaring up my pain. My ribs are constantly fractured and at times I have had small pieces of my rib bones broken off and floating around. Winter is the worst time for me when it is freezing cold and my bones ache. Pre covid I formed a habit of travelling to Bali for a portion of the Winter and letting the heat and humidity and swimming in pools give my skeleton a little rest and reprieve.
For anyone reading this story I want to say that everyone’s experience of this condition will be different. I take my hat off to those of you with more severe a case; to those of you having bone surgeries, and receiving bisphosphonate infusions and the like. This being said I think it is important for people to also read and share their stories on the lesser end of the scale so that we may continue to share hope for all those affected by McCune Albright Syndrome. Check in with your mental health, get an understanding of your limitations and don’t forget to push yourself in life areas that you can, don’t get caught up on the worst outcomes and other people’s experiences, check in regularly with your mental health, and in my opinion; see a geneticist and get all the information you can on your journey to acceptance.