Women and Duchenne – Jo Eames, DMD mum and fundraiser
To celebrate World Duchenne Day on 7th September 2022, with this year’s theme of ‘Women in Duchenne’, Duchenne UK is amplifying the voices of inspiring women working in or impacted by Duchenne muscular dystrophy (DMD). Whether they are scientists, doctors, mothers and caregivers or carriers, women are playing a vital role in the fight against DMD, a rare genetic disease that mainly affects boys.
“Our son William was diagnosed at the age of 3 years old on Friday 28th January 2016. The story of diagnosis and beyond are all within my blog My Boy, Duchenne & Me . I try to touch on all aspects of our life – schooling, home, friends, family, holidays, mental health & physical health in my blogs.
Our diagnosis story started with a telephone call on 25th January 2016 by a community paediatrician, she informed me that my son has high CK levels and is required to be under urgent care at GOSH. The short discussion went:
“What is CK?”
“It’s creatine, muscle levels”… That is all…. She told me nothing else so I asked her:
“Is he going to die?”
Her response: “I can’t go into the detail”
That wasn’t No
She tells me my son is required to be seen by GOSH ASAP – yet for what reason I do not know.
She hangs up. I google ‘High CK levels’.
My world dies.
After the reality of the diagnosis sinks in, slowly, you go down the path of blood tests, genetic testing and the next level of mum guilt linked to ‘what caused this’ ‘was it me’. Unfortunately, I had an awful experience which resulted in being informed I was a carrier, to 6 months later being informed they had got it wrong, and I was not! This shook me as a mother and a person. It had caused us to make big life changing decisions that needn’t have been made. The level of care we received around genetics and testing was not up to scratch, more work needs to be done to ‘guide’ new parents down the genetics route – everyone wants to find the ‘source’ of their diagnosis.
You have a pre-perception of life as a parent but being given a diagnosis like DMD alters that – for a time – and then you perceive life in a different way. You realise the real meaning of ‘inclusion’, ‘equality’ and ‘equity’ – you wish society also did! Society is one of the largest barriers to living with a disability and as a family trying to ‘fit in’. There are many days out we cannot do with ease; many houses we can no longer visit; many countries we will never see…whatever we do requires planning – ‘off the cuff’ just doesn’t really work for a SEND family.
Your home needs to fit around the condition, widening & making everywhere accessible. Your car needs to work for your child, not you. Your life at home includes the medicine taking, physio, stretch boards, self-wash toilets, lifts. Your decisions are made around Duchenne and the practicality of it all – rarely the niceties.
The support network of a SEND family often decreases in size as the years pass after diagnosis. Many people were there for us at the beginning, but year on year this does naturally dwindle – people move on, people forget – maybe my fault for putting a smile on my face every day. The mistake is, that this smile is for my kids, not a mask! Don’t leave someone going through a world of pain behind; confront your own awkwardness and speak to them, comfort them – believe me it makes all the difference. A simple text, a coffee, a glass of wine, a chat in the playground, acknowledging you notice them – you feel their pain no matter how well it is hidden.
A group of strong friends and family means you can rely on them; they really understand your barriers; they understand your sudden outbursts of fear and upset. You need people who are living the journey with you. The other side to living with this is finding a new community; a shared journey with other Duchenne parents and children. The importance of Duchenne UK Patient Information Days, support groups & networking is immense. No parent or guardian should go through this journey alone. We, as a family, have developed strong relationships with a couple of other Duchenne families going along the same path. You need them, as they truly get it.
There is another level of support – much more on a practical level – from the medical ‘family’ you create around you. I have formed, through a huge amount of effort, a relationship on WhatsApp and email with the people treating my son directly. No longer do I have the huge challenge of the ‘receptionist’. You end up understanding the condition more than those paid to – but if you challenge them with evidence, you can achieve success.
Anxiety and fear are deep within every parent, but when your child requires more support than average, your own mental health needs support too. I have been through emotional journeys since diagnosis – denial, blame, guilt, hurt, pain, anger – the normal journey of anticipated grief. I sought counselling in the early days, which helped with the initial anger. Since then, I have not been able to find ‘appropriate mental health support’. I gave up with the professionals and I try to write to release the pain or thoughts in my head – this has become my therapy.
I lean on a small number of people who can glean from just my eyes that things aren’t right – that I am in a rocky phase. I had my own challenges last year when diagnosed with cancer – this took away my ability to focus on DMD as I had another thing attacking my body viciously. My mental health took a tumble – the mum guilt that I couldn’t support my children as much as I wanted to became overwhelming. Take time, reflect and cry. Again, your rocks will show themselves and help you get through.
There is no manual for life with Duchenne. You all stumble across the different stages of decline at an undisclosed age – there is no handbook to tell you when your child will not be able to run, jump, walk, eat, or the worst – hug you. Lean on those that are there, don’t force anyone to support you – it won’t be worth it in the end. Accept that life, no matter how hard, is still full of love. Always remember, you have an amazing human in your life who you love – they are the ones really fighting and we are their support crew. ”
DMD Care UK is working to improve and equalise the standards of care for DMD across the UK, including improved psychological support and diagnosis. Find out more at dmdcareuk.org
If you are a parent or caregiver to a child with DMD, visit Get Support to find more guidance on caring for your child and yourself or get in touch with [email protected].
World Duchenne Awareness Day is an initiative from the World Duchenne Organization which takes place each year on 7th September. Find out how to get involved on the WDO website.