Hi everybody! Welcome back to series 2 of Warrior Mums. There is an exciting line-up of some of the most inspiring women you are ever likely to meet.
First to be featured is Dr Sheonad Macfarlane.
Hope comes through everything Sheonad Macfarlane says. The specialist doctor, mother of two and Chair of the Scottish Council for the Muscular Dystrophy Campaign uses the word ‘hope’ liberally as she shares her family’s story of living with a neuromuscular condition.
|David, Eilidh, Niamh and Sheonad|
|Aberlady Primary School in Scotland|
M. You sound like you have a very happy marriage. How did you meet David?
Three days into her life, our little baby was finally named. Eildh Grace - she so suited her name. Eilidh is Gaelic for light. Grace is derived from the Latin 'gratia', meaning God's favour. A beautiful name for our beautiful girl.
The months flew passed and we adapted to the chaotic life of a family of four. The sleepless nights were enjoyable as i was able to hold my daughter in the darkness, in peace and quiet, and cherish her... extra time stolen from busy days when Niamh wanted cuddles too. The first smile and giggle were as special as they could be. Eilidh sitting and commando crawling... all normal for a perfect little baby. I remember the day that she started to commando crawl so clearly; we moved house that day and there she was in our new dinning room looking out into the garden and she crawled forward towards me. I remember thinking 'It won't be long before she's up the stairs with her sister and outside causing havoc...' how wrong I was.
Eilidh continued to roll about the rooms but there was to be no more crawling. Eventually even the rolling stopped. I spoke to a friend and we gave her the benefit of the doubt, but I began to worry. My GP said to give her a few months longer and the health visitor agreed but I was getting more and more concerned. Eilidh wasn't moving and she hated being on her tummy. She was unstable as she sat playing with toys.
We saw a neurologist, Dr Neuron, in February; we laughed and joked and he too wanted to give her the benefit of the doubt - that her weakness was probably due to the fact that she was frank breech. He referred us to neurophysiotherapy and in turn to community physiotherapy and each day we hoped for some improvement.
Three months later, a week before we were due to see Dr Neuron again I began to notice that Eilidh's upper body tone and strength were now poor. I tried not to think about it, having spent three months trying to convince myself that it was because she was breech and that everything would be ok. I wanted to blank out any possibility other than that Eilidh was just perfect. I kept this discovery to myself - I didn't want to mention it, I didn't want to worry anyone, I didn't want to tempt fate...
And then the day of the appointment came and I felt so uneasy - I think that I knew that we were about to face the harsh reality that there was something very real wrong with Eilidh.
Dr N was gentle with her as he examined Eilidh again. A registrar was also present and as experienced as he was he failed to hide his worry as he noted her lack of tone and poor musculature around her trunk. And then Dr Neuron said it "I don't think that this is because she is breech. She may have a neuropathy or a myopathy but she doesn't look like a normal myopathy. I've been thinking about spinal musculature atrophy. I've been thinking about Eilidh a lot since the last time I saw her. I wanted to give her the benefit of the doubt, but I think that it's time to investigate further."
I crumpled at this point. I knew this was serious, that something devastating was wrong with my baby and I couldn't hide it anymore, I couldn't hide from it anymore either. I buckled, I cried and sobbed. I think that everyone was shocked at my level of despair, but deep in my heart I knew that this wasn't going to be good news, that our lives were about to change beyond our comprehension.
David took Eilidh away to have bloods drawn and as I sat listening to her cry, I talked to the Muscular Dystrophy Campaign Care Advisor or fairy godmummy. I talked to her about my post-natal depression and anxiety and this overwhelming knowledge that something was definitely wrong with Eilidh. I had been unable to place her at first, having worked with her in Palliative Medicine she was so out of context. I knew that she had changed jobs but I couldn't remember what she was doing and just accepted her presence. Now, on reflection, I am so pleased that she was there with us that day and that she is still part of the team looking after us.
David and I managed to get home, we managed to talk to his mum and dad, we put the girls to bed and then we fell apart. I cried. I sobbed. I didn't know what to say or do. I didn't know what was wrong with Eilidh and I couldn't cope with not knowing. In bed, in the darkness, without being able to see the other's face, we were able to be open and admit how terrified we were. Our little girl. Our gorgeous daughter. But all we could do was wait.
David had no understanding of any of the conditions Dr N had talked of and he didn't really want to know. I knew about each and every one of them but wanted to erase that knowledge and be blissfully unaware until we had the final diagnosis. But no, I sat and worried and projected a future that was uncertain and full of pain. I thought of worst case scenarios and best case scenarios..
Muscular dystrophy was ruled out on day 2 - her creatinine kinase was normal - diagnosis one ruled out. And I thought that that was the worst that could happen - how laudable!
The days were difficult but the nights were worse as I tended to ruminate. I wanted to die. For the first time in my life I truly wanted to die because inside of my body was a huge gaping dark hole where my heart was once beating. I felt so empty. Difficult as it was I shared my feelings with David and he fell apart and, seeing his pain I wished that we could all die together so that we would all be spared.
I was without hope. Totally devoid of hope.
So we waited for the genetic test to come back. Wednesday came and went without hearing from Dr Neuron. He phoned on Thursday to apologise for the delay but the Lab had promised that the results would be available by the end of the day. Dr N asked us to come in for the results.
The waiting for over. We walked into the relative's room and David, just as he entered the room, gave the warning shot, "This is bad news, we're being shown into a room with comfy sofa and a box of tissues." He was right. No sooner had we sat down when a rather apprehensive looking Dr Neuron spoke - and I knew from just looking at him and the MDC fairy godmother that this was bad news:
"We got the results at 4.27 - it's SMA 2."
And I broke down. I didn't need to know anymore. I didn't need to listen any more. My life was over. Eilidh's life as I saw it then was over. David didn't understand. He didn't understand what had just been said and he asked more questions of Dr N until he too realised the extent of this horrific diagnosis. I think that his moment of realisation was when the neurologist said, "She will be wheel-chair dependent." And then the despair hit him as the final punch hit home. "She'll probably need a powered chair." for me, in that moment, Eilidh lost her final piece of independence and I wanted to run from the room.
I can't remember what was said after that - it's true that when bad news is broken you don't retain much of the conversation. I remember thanking Dr N and getting a hug from him and the fairy godmummy - why did I thank him for this earth shattering news? I don't know. I really don't know. And then we fled the scene.
So on that day, Thursday 27th May 2010 we received a diagnosis that changed our lives. On that day we started on our journey with SMA. I was without hope. I was lost. I would imagine David felt exactly the same way, too. Eilidh was blissfully unaware and with innocence on her side, she kept us going. She was the reason to get up in the morning. Her smiles made my days. Her joy and exuberance flowed through the house and for that, at least, I was grateful.
She was and still is Eilidh. No more. No less. I love her no less just because she has SMA. I will do anything for her. She keeps me going. I get up each day and I ache to see that first smile of the morning for it takes away my pain - or at least some of it."
M. For those who are only just learning about SMA (myself included) would you please share the facts?
Spinal Muscular Atrophy (SMA) is a genetic disorder that, generally speaking affects nerve cells (motor neurons) in an area of the spinal cord called the anterior horn.
The nerve cells are a wiring system which carry electrical impulses from the brain to the muscles, controlling how they contract and relax. Part of this wiring system is damaged or lost in SMA due to low levels of protein called Survival Motor Neuron (SMN). This leads to muscle weakness, loss of mobility and motor function - such as crawling, walking feeding and head control and can also affect the muscles of breathing resulting in respiratory infections.
Approximately 1 in 4 of us knowingly carry the faulty gene that causes SMA: that is a total of 1.5 million people in the UK. It is an autosomal recessive condition which means that if both parents are carriers then they have a 50% chance of giving birth to a baby who is also a carrier and a 25% chance of having a baby with SMA. There is currently no general population screening test to determine if someone is a carrier or not.
1 in 6,000 - 10,000 births results in a baby with SMA. Males and females ate affected equally. There are three types of SMA:
Type 1 is the most common for and the most severe. Symptoms are usually apparent at birth or during the first few months of life. Weakness is severe and manifests itself with difficulties moving, eating, swallowing and breathing. The risk of serious respiratory problems and infections is high and 95% will die before they are eighteen months old.
Type 2 is less severe and is typically diagnosed when the child is between 6 and 18 months of age. These children are usually able to sit at some point in their lives but do not stand or walk unaided. As in type 1, respiratory problems are common but most people with Type 2 SMA will live into adulthood.
Type 3 is the mildest of the 3 types. Babies appear normal at birth and diagnosis is usually made after the age were they begin to walk; sometimes diagnosis can be made as late as the teenage years. As the children grow, their larger bodies and heavier weight make walking and other activities more difficult, resulting in the need for a wheelchair later in life. Those with SMA 3 usually have a normal life expectancy.
Currently, SMA is incurable and is the leading cause cof infant and toddler deaths. After cystic fibrosis SMA is the second most common lethal autosomal recessive disease in Caucasians. Given this, why do we not know more about this condition?
M. Here's the million dollar question: do you receive much government support?
After the diagnosis there was despair, anger, disbelief and tears. We broke the news to our families who were devastated, but our pain was palpable and they were unable to protect us or save us from the fact that Eilidh was disabled and there was no treatment or cure. No matter how I tried, I could not reach out to tell our friends but I needed to, so I emailed them - it was the only thing I could do, the only way I could think of to tell them this awful news while protecting myself. Their responses were beautifully and sensitively considered and not only helped me to cope, but gave me hope. I still look back at these letter from time to time and see them as gifts received during the darkest time of my life.
Our support comes not only from our wee immediate family but also from our extended family and friends who hold us high when times are good and lift us when we can no longer carry on.
Beyond this inner circle are the many doctors and allied health care professionals - including neuromuscular care advisors, physiotherapists, occupational therapists and orthotists - who keep Eildih well and me sane. The equipment engineers and wheelchair adapted vehicle (WAV) convertors who allow Eilidh her independence and the teachers and pupil support at the local primary school who have the patience of saints! Our support comes in many forms.
Over time this circle of support has increased to include many families from the SMA community - it is small and closely intertwined - who have opened our eyes to all that is possible and given us a platform for discussion, no matter how silly the question. Needing to share my story, I started my blog Touch and Tickle which has been very cathartic and opened more doors to the online world of parents who have children with special needs; the sense of belonging, the ability to share and unburden, and the support received have proven to be invaluable.
Wider the circle grows to include Muscular Dystrophy Campaign to which I am now a Trustee. This charity is passionate about beating muscle wasting conditions, one such condition being SMA, by finding treatments and cures and to improving the lives of everyone affected by them and I am proud to work alongside them.
We are lucky enough to qualify for disability living allowance (DLA) which was awarded soon after Eilidh's diagnosis. Support form our local authority was a little harder to come by, however. It took one social worker to decide we weren't entitled to any support, a self referral back to social worker some time later, seven months on the waiting list, and eleven months to complete an assessment before we were awarded six hours a month of self-directed support (because no services exist locally for families such as ours to employ someone to care for Eilidh in whatever way we deemed necessary. We were awarded those hours in December, having not yet signed the contract or taken any payment as we are still unsure how best to use them - and that's before we need to write a job description, terms of employment and manage a payroll.
We have no respite which is increasingly difficult after years of interrupted sleep and lifting reeking havoc on our bodies; being a carer carries a heavy physical and psychological burden. There are no respite facilities for Eilidh. She is deemed too well for a hospice to provide respite (Scotland only has two children's hospices) and her needs not complex enough for care for care to be provided for in our own home. Occasionally Eilidh's granny will stay overnight to give us a break but with Eilidh growing and hoists now being needed, I'm not sure how much longer this will be possible for, but we will try to make the most of this time while we can.
M. Sheonad, you describe yourself as 'hopeful mummy' and your family as 'ever hopeful' but the practicalities of caring for a child with SMA must sometimes be draining?
SMA is a complex condition with much variety by those affected. Their ability to move is self limited, their capacity to self-care is curbed, the risk of respiratory infections high, and corrective orthopaedic surgery a probability. A team of allied health care professionals, an abundance of hospital appointments, specialised equipment and house adaptions are commonplace.
As a parent to a child with SMA you become their carer, therapist and advocate all rolled into one. It is a 24/7 job as our children need to be turned frequently overnight, unable to move themselves.
Life is challenging but it is so much more than limitations. Over time, you begin to realise that your child - and those living with SMA on a day to day basis, although profoundly physically disabled, is cognitively able and bright and has much to contribute to your family, community and to society as a whole, bringing hope and joy to many. My daughter, and those I know who have SMA, have taught me about living with the condition and disability; the learning process continues.
Yes, my heart remains tender but I have grown as a person: I am stronger, more gallus and a wonderful advocate for my daughter, for my family and for SMA.
SMA makes me who I am today. But please don't think that I'm a super hero, that I truly accept this twist of fate, the life unexpected now lived: I still have moments of anger, of disbelief, of sadness but life goes on, perfectly imperfect. Life is bright and good, for Eilidh and Niamh are my guiding lights, David stands strong beside me, and we are held high by our family, friends and community.
"You don't choose your family. They are God's gift to you, as you are to them." Desmond Tutu
Sheonad, thank you for sharing your story. I wish you and your family well in the future.