Living with SMA – the MacFarlane family

Dr Sheonad Macfarlane, is Chair of Muscular Dystrophy UK’s Scottish Council and a regular blogger. She lives with her husband David, and their two daughters, Niamh, 8, and Eilidh, 6. Eilidh has spinal muscular atrophy type 2 (SMA), a genetic condition which means that she is in a wheelchair. Sheonad shares her experiences of her daughter’s diagnosis, her work on the Scottish Council, and raising cash for the charity through their Family Fund, Eilidh’s Muscleteers.

I knew something wasn’t quite right. Eilidh wasn’t reaching her developmental milestones – she had started crawling and then stopped, she wasn’t bearing weight when she was held up, and when she waved at people her arm would drift down to her side.

I took Eilidh to see a neurologist. He thought she could have lower limb weakness because she was born breech, and wanted to see us again in three months. When we went back, he said we should investigate muscular dystrophy or SMA. Neither of those conditions had even crossed my mind. A week later, in 2010, Eilidh was diagnosed with spinal muscular atrophy (SMA) type 2 at the age of 15 months.

I remember our instant grief; I felt as though my heart had fractured. Our lives had been shattered but we still did not know what we were facing; we were in a state of shock and disbelief. The days were full of despair and anger.

I couldn’t reach out to tell friends, but I needed to, so I emailed them. Their responses were so beautifully and carefully considered, they not only helped me to cope, but gave me hope. I needed to share my story, so I started my blog.

Throughout everything, we felt really supported by our regional care advisor, Wilma. She put us in touch with Muscular Dystrophy UK, and we went to the Scottish Conference, a few months later.

We went to a couple of other events for the charity and, inspired by meeting Trailblazers and others living with neuromuscular conditions, I joined the Scottish Council. After a year as a Council member, I was elected Chair. This role involves addressing various different issues relating to neuromuscular conditions in Scotland, including access to and funding for treatments for rare diseases; campaigning for the provision of respite care; and improving the quality of life of those living with such conditions.

Eilidh is full of mischief! She is cheeky, smart and very funny. Her older sister, Niamh, is caring and happy, and a very loving older sister. I couldn’t be more proud of them; they keep me going.

Most days we live in a whizzy-wheeled home full of life and laughter, filled to the brim with love, a modicum of grace, and abundant hope and joy. There are still bad days and difficult times though: our friends and family carry us high during these times, making us smile and giggle, and loving us no matter what.

It’s been five years since her diagnosis and we are still learning about living with SMA. We continue to move forward though and maintain our hope of a brighter, independent and accessible future for Eilidh and others living with SMA and other neuromuscular conditions.

We set up a Family Fund for Muscular Dystrophy UK early in 2015, raising awareness of and funds for those living with SMA, and other neuromuscular conditions in Scotland. We want to help fund research into the science and treatment of SMA to give other families a sense of hope for the future.
Our aim is to encourage those around us to fundraise by doing something that makes them happy, or pushes them to the limit – all in the name of Eilidh’s Muscleteers.

 

Find out more about the Family Fund visit Eilidhs Muscleteers page.

 

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