Jan shares her heartbreaking journey of her granddaughter’s diagnosis with myotonic dystrophy, and how her family found the help they needed in Muscular Dystrophy UK and the NHS South East Wales Neuromuscular Team.
“Everyone had given up on my granddaughter – until we found Muscular Dystrophy UK and the South East Wales Neuromuscular team”
We’re a very close family. Louise is my only child, so when I found out I was going to be a grandma, my husband and I moved round the corner from Lou and Mike so we could see our granddaughter as often as possible. All of us were beyond excited, but little Evie was born nine weeks early and very poorly. When Evie was diagnosed with myotonic dystrophy our worlds fell apart.
Watching your family suffer is a pain like no other
Having your child diagnosed with any long-term illness is unspeakable, but the lack of information Lou and Mike were given was horrendous.
“They were handed an A4 piece of paper printed off the internet and told only 25% of babies make it past their first birthday.”
Evie spent week after week in hospital, while Lou and Mike lived in hospital accommodation so they could be with her at all times. The consultants didn’t have a plan of how to help her, but I couldn’t accept the awful prognosis. It was soul destroying. I started emailing as many health professionals as I could find in Wales, and Rachel Salmon, who is a Neuromuscular Nurse Specialist, got back to me straight away.
Finding the support we needed
Rachel put us in touch with Lucia at Muscular Dystrophy UK and they worked together tirelessly to support our family. They were the only people who properly explained what Evie’s condition was and reassured us that no two children with the condition were the same. Evie was six weeks old when they first started helping us, and within a week Rachel and the Paediatrics Team had managed to get Evie moved to Cardiff hospital where they were more equipped to deal with Evie’s complex needs.
Amongst all of this, Lou was diagnosed with the same condition through genetic testing – which looking back, explains why people always thought of her as rather clumsy and sleepy.
It was hard enough for us as Evie’s grandparents to come to terms with what was happening, so I can’t imagine how tough it was for her parents. Lou was able to sign some forms for me to deal with any necessary paperwork or communication on her behalf to take away a small amount of her stress.
“Lucia was amazing supporting me get things in order for my daughter and her family, while Rachel visited Evie at the hospital and ensured she was getting the right care; they were the perfect team.”
Bringing Evie home was a day we weren’t sure we’d see
After five of the hardest months we’ve ever been through, Evie was able to go home for the first time. Getting to this point was a huge milestone, but everything still felt very overwhelming. Working out how to care for Evie while being able to financially support a family was a huge worry for Lou and Mike.
Lucia was brilliant at explaining the benefits to Lou they were entitled to. She spent a huge amount of time helping me fill out a Disability Living Allowance (DLA) application for Evie and a Personal Independence Payment (PIP) application for Lou.
“When Lou’s PIP got rejected, Lucia sorted out an appeal and managed to get the full amount awarded.”
She also ensured Lou was in receipt of proper financial support while Evie was still unwell, while Rachel was exploring ways to help Lou manage her own condition. Lucia has continued to support with further benefit applications. This was such a huge relief for us all as it meant everyone could focus on the most important thing – Evie.
I’ll never be able to thank the team enough for how they helped my family
Evie will be two in September and she’s done everything the doctors said she wouldn’t. She came off her tube feeding just before her first birthday and is now sitting up and holding her head independently. She recently got a standing frame to work on her leg muscles. We look after Evie most weekends and she’s such an amazing, special little girl – she’s the light in our lives.
I don’t know where my family would be today without Lucia and Rachel. My daughter sees Lucia regularly at the hospital clinic she now attends, and Lucia and I speak most weeks. Whether we have questions about a new form to fill out, a condition related query, or just need to talk to someone who understands, Lou and I know she’s always there. The team care so genuinely about our family that Lucia will sometimes call me just for a chat to see how everyone is doing.
“Muscular Dystrophy UK and the South East Wales Neuromuscular Team have literally been our lifeline over the last two years, and I’m sure they will be for many years to come. They saved our family when we had nowhere else to turn, and we can never thank them enough for that. ”
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