When I was in my twenties my workplace had a drive to recruit bone marrow donors for the Australian Bone Marrow Donor Register. I suppose people in their twenties are at a very helpful age and I wanted to help the sick children to survive bone marrow cancer. First step was a blood test to determine which of the few categories of HLA Types I came under. This is a quick chromosomal categorisation, but my blood test had been contaminated, so I was called back to give another sample. The second sample was also a bad batch and Dad joked with me about probably having Alien parents on our way in to be re-tested – my third blood test and Dad’s first.
Three doctors emerged from their little laboratory beaming proudly, like the cat that had caught a mouse. Dad stood up and I followed him in his manners. Dad shook the doctors’ hands as they introduced themselves to him and I held my hand out to do the same. Taking my hand, the male doctor looked at me directly and paused in silence for a second, before blurting out, “I’m very excited to tell you that your HLA type is a completely new one, never before discovered. You are the only person with this HLA on earth… at this stage. We can write a journal article about your unique HLA!”
I had questions, “Does this mean my bone marrow isn’t any good to anyone?” They nodded. “And does it mean that if I get bone marrow cancer that I can’t get a transplant?” They nodded again, adding awkwardly that this could change any day if they discover someone in the world like me. The scientific excitement began to fall from their proud faces as they faced having to deal with the human side of their exciting HLA discovery.
I was a 26 year old genetic mutant and didn’t know whether I should feel special or embarrassed. We figured it was probably caused by the X-Rays mum had when she was pregnant with me.
Fast forward about a quarter of a century to my mid-forties and I have been married and divorced, and am living with my two teenage daughters, Maree and Rose, and their two dogs. Our lives seemed pretty straight forward just a few years ago. I was at university finishing my studies in psychology, social science and primary school teaching. My eldest wanted to be a vet and her little sister wanted to be a surgeon. Each of us was capable of achieving our dream. My eldest enjoyed her daily swim training and my youngest’s passion was gymnastics. We were all fit, driven, happy and well.
A week after I’d askeded my husband to leave, our eldest daughter Maree developed Type 1 Diabetes. It was a shock because her symptoms were thirst and sudden blindness… naturally I figured it was a brain tumour. Type 1 Diabetes is life long because there is no cure. Each time she eats food she has to inject insulin into her stomach. Hearing this was like a horror story for us both and I took silent, frozen fright; while Maree took screaming flight… running from the nurse and the insulin needle.
She struggled with all the awful side effects of fluctuating blood sugar levels in her final years of school and I allowed her to leave before finishing her final year IF she had a plan. Oh boy – did she have a plan! At just 17 years old, Maree moved to the city, to live with my sister, while doing a course, which she finished on a Friday. Her new, highly paid job started the following Monday and soon after she moved into a small apartment in the city. Maree was doing great and I couldn’t have felt more proud of her drive and determination. Her only problem is that she gets very tired at work. After hours she’s too tired to cook a meal and on weekends she is too tired to go out socialising. We figure it’s just the way of Type 1 Diabetes.
There was no time to celebrate the achievements of our Maree because, suddenly, a mystery illness had stolen her little sister’s strength, stamina and planned career.
Young Rose struggled through her final years of high school, downgrading her career goals from surgeon… to doctor… to nurse… to receptionist… to typist as she realised she was getting weaker and weaker. Finally, she was devastated at having to quit gymnastics.
Rose’s strange symptoms took us on a four year odyssey visiting respiratory and sleep specialists, an endocronologist, two neurologists and a cardiologist. Over these years I learnt what was needed of me as her human rights campaigner in high school, her advocate for university, her medical records co-ordinator and the voice in her head as everything dropped away after she’d given it her all. She now takes a colourful fist full of medication every day to keep her body ticking over properly – this, my child who I wouldn’t allow to drink Coca Cola because of the chemicals – now takes chemicals just to survive. It feels ironic. We went through two years of neurological testing; some were frightening tests looking for tumors in her brain and spine, a test for motor neurone disease, heart tests and all sorts of painful poking and prodding. Her heart now beats at 130 beats per minute while she sleeps – and it actually stopped beating during a heart test!
Over these two years I had many silent screams in my head while my face smiled encouragingly at Rose. Upon leaving specialist appointments and tests we sat in the car quite stunned at the results or at our next step. We felt lost and frightened in a frustrating maze of emotions that needed no discussion, we each knew how the other felt. Sleepless nights haunted me as I hardly coped keeping up with work, specialist appointments 70 kilometres away, medical procedures and normal life. People offered to help but I couldn’t figure out what useful thing anyone could do – besides plucking Rose and I out of this nightmare and letting us get back to our normal lives.
On one visit to the neurologist a distressed lady came bursting out of the doctor’s room and paced the hallway, sobbing, before falling to the floor nearby. Everyone ignored her as if she needed her privacy but I couldn’t stand it and went over to sit on the floor beside her. My hand moved up to touch her shoulder and she continued to cry as she spoke. Her husband is still in the room with the doctor and he has a degenerative muscle disease – he wasn’t expected to survive the six months to Christmas. She went on and on talking about how they met late in life, married and had two baby daughters at home, “How can I lose him now? How can I raise the girls without a father?”
I took a tone of voice that was a mix between my mother’s stern, authoritative voice and my own gentle, soothing voice and said, “Stand up.” Helping her to her feet I told her things I needed somebody to say to me and I stood listening to myself while I spoke.
“Your husband needs you to help him leave this place with dignity. He needs this time to know his daughters and for them to know him. Now is not the time to mourn. You will go home and figure out where to go for support, help and strength… and you have a window of time right now to find those supports. Friends, family and professionals can all help you to plan, cope and do this the best you can. Don’t you dare fall apart now.”
These were awfully harsh words and I don’t really know where they came from. She smiled through her tears and hugged me, thanking me for helping her see what needs to be done. She stood back and gestured her hands in a sweeping motion as she realised that I’m also at a neurologist’s office, and she asked if I was also experiencing the death of a loved one. This question was a bit unnerving because I had been wondering whether Rose was dying and I suddenly wondered whether I actually was living the same nightmare as this lady. But this very moment was not about me and I replied: “No, I have no experience in this stuff at all.” Twelve months have now passed since I hugged that stranger in the hallway and I often think of her and wonder how she coped with her husband’s death.
Naturally, Rose has had her dark times, but she continues to hold her head high through every single disappointment. We haven’t had screaming moments like the lady in the neurologist’s hallway, we’ve just gone from one step to the next. At each set back Rose simply renegotiates her physical boundaries and gets used to the adjustment. Hers isn’t a story of death – just of a different life. She has a disability parking sticker for the car but refuses to use it unless absolutely necessary. She is yet to find her niche in the working world but she forges forward, trying everything possible – just to see how she goes.
Like her sister, this girl is my little miracle.
Last year I took more control of Rose’s specialist visits. I decided to become the patient, giving Rose a rest from being poked, prodded and tested. My plan was have my own muscle disorder diagnosed, which had actually been diagnosed when I was 7 years old – though she never remembered the name of my condition (and my records had been destroyed). Mum just said, “You just got tired before the other kids.” My childhood was a time where disability was taken in your stride, which wasn’t a bad thing. Without normal muscles I couldn’t suckle as a baby and didn’t walk until I was three years old. My body wasn’t normal but it was normal for me. I wasn’t expected to climb mountains but I could walk up a hill. I didn’t feel disabled – my body just got tired faster than other people. My life and my body felt quite normal, considering my Alien HLA type.
First my blood tests were all clear. Then nerve conduction tests, where 3 inch electric needles were poked into my skin and zapped repeatedly into a muscle, was all clear. My nerves and muscles worked well together.
My muscle biopsy was the one that showed a result and now I know I have muscular dystrophy. The neurologist confirmed that my feeling weaker over the past few years wasn’t my imagination and it certainly wasn’t me going out in some psychologically-induced, sympathetic weakness with Rose. This is how muscular dystrophy works. Older age brings hormonal changes that trigger more muscle weakness. My full time working capacity had been reduced to part time. All that education and I can only work part time!
But this isn’t about me, it’s about Rose, and I felt we were on to something big here. An explanation didn’t necessarily mean a cure but it would help her to plan a future, knowing her physical limits. She had a biopsy but it came back clear of muscular dystrophy! How the heck can that be? If it’s not muscular dystrophy then what would it be? Why would she have my symptoms but not my disease?
Next I went for a genetic test to map the pattern of my chromosomes within my DNA. I had this done because I wanted to know the type of Muscular Dystrophy that I had, and understand the implications this has on my grandchildren. The DNA test showed up a glitch right next to Chromosome 6 where HLA types are determined. The glitch meant that I have a particular type of Muscular Dystrophy, which I won’t elaborate on here because this isn’t about me – it’s about my Rose.
The neurologist and I now wonder whether Rose’s muscle biopsy was a dud – she may actually have what I have. She has my symptoms (although more severe) and a couple of extra symptoms in her heart, and she has blood pressure issues – but the logic of genetic inheritance says she’s likely to have muscular dystrophy and my Neurologist agrees.
It would seem that my Alien DNA has caused my unique HLA type, which prevents me from ever being a useful organ donor; and it’s also the cause of my weak muscles, which I appear to have handed down to both of my children.
Now we wait to have blood tests for Maree and Rose; looking for the same dud chromosomal pattern in their DNA that says “Muscular Dystrophy”. But this is a game of patience and I can’t get orders for the test until I next see my neurologist – which is months away.