I’m Lisa, mum to a beautiful little girl called Rosie who was born with a rare muscle weakness disease called Nemaline Rod Myopathy and a mitochondrial disorder called Complex 1 deficiency.
Rosie is my first child. She has a little brother five and half years her junior. I had a great pregnancy with Rosie and all the routine scans and midwife appointments were normal. At 42 weeks gestation, I was induced and Rosie was delivered via c-section on 15th March 2014, weighing a healthy 8lb 6oz.
She needed a few vigorous rubs to get her breathing, but everything seemed fine and she was soon snuggled up into a blanket and placed in my arms. On the ward I tried to establish breast feeding. She appeared to be latching on and I thought she had began to feed successfully.
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 had lost over 13% of her birth body weight. We were told to take her back into hospital immediately.
On arrival at the hospital, a nasogastric (NG) tube was inserted in order to gauge exactly how much milk Rosie was being fed. We moved to expressed milk fed by a bottle and topped up by the NG tube to ensure she was getting enough. The aim was to get her feeding exclusively by bottle. After 2 weeks (some mammoth battles, a suspected tongue tie snip and lots of money spent buying every type of bottle and teat available on the market) she seemed to be able to “drink” full feeds from a fast flow bottle. The NG tube was removed and once again we were able to take Rosie home.
From the moment we left we had a battle with every feed. Rosie seemed to choke and gag throughout. She would cry, go red and was physically, emotionally, and mentally distressed. I dreaded feed time and so did she. Within a few days it was evident that this wasn’t normal. Iain and I called the health visitor round that day and were immediately admitted back into hospital – this time Bristol’s Children’s Hospital.
The tests started. 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 fed via a NG tube. The doctors also commented on how weak her little body was. They were soon referring to our little angel as ‘hypotonic’.
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 the matter 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 7 months old we were invited back to the hospital for an Electromyogram (EMG) and nerve conduction study. These were the first tests carried out where the results came back abnormal. This took the emphasis away from the brain and the doctors started to focus on her muscles.
A few weeks later we met up with the head consultant of the neuromuscular team at 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 Iain and I had both secretly pinned our hopes on Rosie just being a little delayed, that nothing was really the matter and she would grow out of it. We were shocked a few weeks later when I took the call to say that the muscle biopsy revealed Rosie had a rare form of muscular dystrophy – Nemaline Rod Myopathy.
We were both 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 but found it difficult to find information about the condition. We were directed to the Muscular Dystrophy Campaign website which gave us some really useful information, but we’d discovered our precious baby girl had a potentially life-limiting and disabling condition and we desperately wanted to find and meet families who were going through the same thing to get a realistic, practical and honest view of what life was like for all involved.
At the time we struggled to find what we were looking for but now realise why; the condition is rare, less than 50 people have it in the UK. Sadly, it’s reported that 66% of babies born with the condition don’t live long enough to see their second birthday and thirdly the condition can present in many different ways, so it’s not quite a simple ‘one condition fits all’.
A few months on from discovering Rosie had Nemaline Myopathy and during an admission to intensive care, Rosie’s neuromuscular consultant and a couple of other senior doctors called Iain and I into a private room (always a bad sign!). There were some new results. A mitochondrial disorder called Complex 1 deficiency / Leigh’s disease had been identified and it wasn’t good news. Complex 1 deficiency is a devastating degenerative disease that would see Rosie lose function of all her vital organs, the ones that required the most energy to work – her brain, heart, liver, eye sight, kidneys. Iain and I went into total shock. There was no cure and no time, we would lose her in a most horrendous way. We’d have to watch Rosie deteriorate and die and it would be soon.
It hasn’t quite worked out this way with Complex 1 deficiency so far and you can read more about that in my ‘A year living with Complex 1 deficiency‘ blog post.
I realise that Rosie’s life is going to be very different, at times challenging, emotionally tough and at others immensely rewarding. If I’d been able to find more people on the internet back then going through a similar thing to us, I’d have found it comforting to know we weren’t alone and to get ideas, inspiration and advice on what life might have in store for us and practical advice for learning how to deal with it. If Rosie’s story helps just one person going through a similar situation, then I couldn’t ask for anything more. Incidentally, a few weeks after I started a blog I found a fantastic private Nemaline Myopathy Facebook group and realised everyone was hiding in there!
Our angel Rosie has Nemaline Rod Myopathy and Complex 1 deficiency but what does this mean for Rosie’s future? No-one really knows. What we do know is that 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.
I don’t know what the future holds, but I’ve started this blog to share our journey with you.
Lisa x x x