“Every moment counts” – Rosie’s story

  • Lisa’s first pregnancy was problem-free and little Rosie was born in March 2014. But soon enough, Rosie stopped eating and began rapidly losing weight
  • After nearly a year of tests, doctors finally discovered Rosie had a rare muscle-wasting condition called nemaline rod myopathy and had just 44% chance of surviving another year
  • Despite the bleak diagnosis, Lisa and her husband Iain remained positive and Rosie will celebrate her third birthday in just a few weeks. They’re hopeful that a cure will be found that means they’ll see their little girl celebrate many more years

Here, Lisa tells their story:

I had a great pregnancy and all the routine scans and midwife appointments were normal. At 42 weeks, I was induced and Rosie was delivered via c-section on 15th March 2014, weighing a healthy 8lb 6oz.

At home, Rosie seemed disinterested in feeding. She didn’t cry when she was hungry and when I put her in the feeding position she’d latch on, try a few weak sucks, and then fall asleep. The day after my husband Iain and I took Rosie home from the hospital she was weighed by our health visitor and told she had lost over 13% of her birth body weight. We were told to take her back into hospital immediately.

Feeding problems

On arrival at the hospital, a nasogastric (NG) tube was inserted and in order to gauge exactly how much Rosie was eating. A video fluoroscopy swallow test confirmed she had an unsafe swallow and with the risk of milk aspirating into her lungs, the doctors declared her ‘nil by mouth’ and to be exclusively NG tube fed. The doctors also commented on how weak her little body was.

We spent a further 10 days in hospital learning how to feed our baby through a tube and took her home uncertain what, if anything, was wrong with her.

The care was fantastic and in the first six months of her life, Rosie underwent a huge array of tests to try to figure out what was causing her hypotonia and feeding difficulties. Prader Willi Syndrome, Spinal Muscular Atrophy and Cerebral Palsy were possibilities that were discussed and tested for – they all came back negative. Rosie had a brain ultrasound, MRI scan, numerous blood tests, heart echo, and lots of prods and pokes, we just couldn’t seem to get any answers.

When Rosie was seven months old we were invited back to the hospital for an Electromyogram (EMG) and nerve conduction study. These were the first tests that were done where the results were abnormal. This took the emphasis away from the brain and the doctors started to focus on her muscles.

Diagnosis

A few weeks later, we met up with the head consultant of the neuromuscular team at the Bristol Children’s Hospital who referred Rosie to have a muscle and skin biopsy at the same time as having a PEG (percutaneous endoscopic gastrostomy) feeding tube fitted. Rosie had this done on 21st January 2015.

With all the tests coming back negative we’d both secretly pinned our hopes on Rosie just being a little delayed, that nothing was the matter and she would grow out of it. We were shocked a few weeks later when we had a call to say that the muscle biopsy revealed that Rosie had a rare form of muscular dystrophy – Nemaline Rod Myopathy.

Support

We were so scared. There has never been anything like this in either of our families before. We trawled the internet looking for stories to help us understand what it meant for Rosie and all of our futures. We were directed to the Muscular Dystrophy UK website which gave us some information.

We read that our precious baby girl had a potentially life-limiting and disabling condition so we wanted to find families who were going through the same thing to get a realistic, practical and honest view of what life was like for all involved.

But we couldn’t find anyone because Rosie’s condition is so rare.

Our Rosie might have Nemaline Rod Myopathy but what does it really mean? We don’t know. She may walk, she may not. She may not live to celebrate her 5th birthday – she might live into old age. All we know is, we’ll take nothing for granted. We’ll love, cherish and give Rosie everything we can to make sure she has a happy, healthy and amazing life – however long that will be.

It’s reported that 66% of children born with Nemaline Myopathy die before the age of two. Rosie passed that milestone on March 15, 2016 and I feel incredibly lucky to still squeeze her tight, look deep into her eyes and make memories together every single day.

The future

We don’t know what the future will hold, but I do know my little girl Rosie is a real warrior.

Life has presented Rosie with challenges that NO child should ever have to face. She’s trapped inside a weak body, reliant on others to help dress, feed and move her. But what Rosie lacks in physical strength she certainly makes up for in mind, sense of humour and spirit.

She is a warrior. My warrior. Making life a fun place to be. She brings love, laughter and the most beautiful singing voice wherever she goes and I need to share her beautiful soul with the world.

There is no cure for Nemaline Rod Myopathy, but I live in hope that by helping to raise awareness about this condition and money to carry out vital research, that one day I can see my little girl run around a park with her friends and live her dreams independently of 24/7 care.

Lisa writes a blog about family life with Rosie. You can follow it here.

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