Muscular Dystrophy UK

TOTAL RAISED: £97,514

“Research gives us hope”

Lucy Chillery-Watson, 42, from Wiltshire explains why Muscular Dystrophy UK’s research into treatments and cures for muscle-wasting conditions is so important

My daughter, Carmela, is a bit of an adrenalin junkie with a real zest for life. She loves martial arts, roller coasters and whizzing around on the back of my bike. She even completed an indoor skydive for charity last year when she was just three years old. Carmela is such a happy, tenacious little girl – always smiling and cracking jokes – you would never know she battles with her health every day.

A much-longed-for child – born after five years of trying and two cycles of IVF – Carmela was a happy and healthy baby. It wasn’t until she was around 12 months old that my husband, Darren, and I noticed her hip joints kept flopping open. We were told at our baby health clinic that she might have hypermobility, which was later confirmed. However, she was also late to walk – at 15 months old – and at 18 months we noticed her sitting position changed to a W position, with her knees bent and feet positioned outside her hips. She was also falling over quite a lot and unable to walk up stairs; however, our GP assured us these were symptoms of hypermobility.

Towards the end of 2016, when Carmela was just over two and a half, she had a review with her health visitor, who told us she was concerned about Carmela’s gross motor skills development. She referred her to a physiotherapist, who noticed Carmela was demonstrating Gowers’ sign – a sign of muscle weakness of the lower limbs, where individuals put their hands on their thighs and pull up their legs to a standing position from the floor. She also noticed Carmela had hyperlordosis – an excessive curvature of the lower back.

We were referred to a neurologist consultant at the Royal United Hospital in Bath, who examined Carmela, and ordered a genetic screen and blood test, which showed her levels of creatine phosphokinase were very high, which can indicate muscle disease.

The genetic test results came back inconclusive so we were referred to the Bristol Royal Hospital for Children for repeated tests and a thigh muscle biopsy. Although this was a big procedure for a small child, Carmela took it all on the chin – typical of our amazing little girl.

In the summer of 2017 – a year on from Carmela’s initial referral – we met with Carmela’s consultant, who diagnosed her with a rare type of muscular dystrophy called L-CMD (LMNA congenital muscular dystrophy), a life-limiting, muscle-wasting condition on the severe end of the spectrum. We were told it would affect her heart and lungs and she would eventually lose her mobility, but it was difficult to predict a timeline for any of this as it was such a rare condition. Although we had prepared ourselves for the worst, we were completely devastated. We had fought for years to have Carmela and now we had to fight to keep her. It felt like my life had ended.

Following the diagnosis, we didn’t really know what to do, so we got in touch with Muscular Dystrophy UK, which we heard about through friends and the hospital. The charity came out to chat to us, which was really helpful at such a confusing and devastating time, and helped us to set up a fundraising account and get started raising money towards research into a cure, which gave us something practical to focus on and helped us to feel we were doing something positive for Carmela.

Since then, Carmela has developed dropped head syndrome, which means it’s difficult for her to hold her head up due to weak neck muscles. She has also been given a motorised wheelchair, which she uses in the afternoons when she is tired. As she is prone to falls, she also wears a helmet to protect her head and straps to support her knees, as well as a tight Lycra suit to keep her spine upright as she grows and reduce the need for surgery.

Carmela experiences a lot of congestion in her chest, as her condition can cause mucus to build up due to a weakened cough, and she has regular tests on her heart, which thankfully have so far all come back OK. We have been told there is always a risk of a sudden heart attack with this condition, which is obviously a huge worry.

We have always been very open with Carmela about her condition and she is aware she can’t keep up with her peers, which sometimes upsets her, but she is generally so joyful and motivated it makes us want to be the same. Although we struggle with our emotions every day, we try to focus on making Carmela’s life as full and fun as we can by taking her on lots of mini breaks and helping her to take part in lots of sports, which also keeps her muscles and joints moving.

Muscular Dystrophy UK has played a massive part in helping us to stay strong even during the most difficult times, by being that port of call for us regardless of what we need. It gives us information and emotional support and has also helped us in many practical ways.

This year, it helped us to get Carmela’s EHC (education, health and care) plan in place for starting primary school, so she can have additional support to reduce her risk of falls or choking, and to make sure she doesn’t get too tired in class. We also received the charity’s Joseph Patrick Trust (JPT) grant to buy a special seated tagalong to go at the back of my bike so we can go cycling together, which has been amazing.

The most valuable part of the charity’s work for us, though, is the hope it offers families through its research into treatments and cures. I want Carmela to have a chance to live as long a life as possible, and research is vital for that. Any breakthroughs could really make a world of difference to families such as ours, so it’s essential we keep these clinical trials going. I know Candis readers have already generously supported this charity but if anyone felt able to make a donation to Carmela’s Stand Up to Muscular Dystrophy JustGiving page (justgiving.com/campaigns/charity/muscular-dystrophy/carmela) or text LMNA99 to 70070 to donate £5, we’d be incredibly grateful.

Muscular Dystrophy UK – the facts

  • Muscular Dystrophy UK aims to bring individuals, families and professionals together to beat muscle-wasting conditions through research and the development of effective treatments.
  • The charity supports 70,000 people in the UK who are living with a muscle-wasting condition.
  • Money raised will support and fund a new generation of neuromuscular researchers, including PhD students and clinical fellows.
  • The charity selects only the most promising research projects through a detailed peer review process to ensure continuing progress.

 

The Candis Big Give

The £97,514 raised will go towards employing two PhD students and a clinical research fellow for a year. They will be involved in ongoing research projects to help to find effective treatments and cures for muscle-wasting conditions, which lead to increasing disability and can potentially shorten the lives of those living with them, and for which there is currently no cure.

Make a difference

Over the Wall

What it does: Provides camps for people affected by serious illnesses.

Candis Big Give project: To run four family camps across the UK.

Location: National

Total raised: £30,655

JDRF

What it does: Supports research into treatment of Type 1 diabetes.

Candis Big Give project: To fund a trial to evaluate the efficacy and safety of the artificial pancreas.

Location: National

Total raised: £111,280

Breast Cancer Haven

What it does: Provides support to anyone suffering from breast cancer.

Candis Big Give project: To provide care for 50 visitors.

Location: National

Total raised: £48,403

Baby Lifeline

What it does: Cares for pregnant women and babies worldwide.

Candis Big Give project: To prevent stillbirth and neonatal deaths, and avert newborns’ preventable brain injuries.

Location: National

Total raised: £32,656

Family Fund

What it does: Gives grants to families on a low income who are raising a disabled or seriously ill child.

Candis Big Give project: To provide siblings of disabled or ill children with a £50 gift or experience.

Location: National

Total raised: £3,948

Sebastian’s Action Trust

What it does: Supports seriously ill children and their families and offers them free specialist respite holidays.

Candis Big Give project: To develop a family outreach hub for advice and create a meeting place for those affected.

Location: Berkshire

Total raised: £27,000

Wellbeing of Women

What it does: Funds research and training grants for midwives and doctors.

Candis Big Give project: Funds research into hydroxychloroquine to treat foetal growth restriction.

Location: National

Total raised: £17,313

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