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Helena’s Story

Helena’s story

After the smoothest pregnancy and delivery Helena was born. I felt so thankful for her safe arrival and that all appeared well. The first time I became concerned about Helena was about 6-8 weeks following birth, when unlike her big sister, she was still not taking any weight at all on her legs when held in a standing position and when at her routine baby check the GP asked, “does she move her arms and legs?”. Yes she did move her legs, but not vigorously, she didn’t lift her feet off the ground at all.

After many trips to health professionals at which I was told, “she’s just laid back”, “all children develop at their own pace”, “concentrate of doing more front time play with her” and unbelievably, “she’s just got chunky legs and the weight is too heavy for her to want to lift them” at 6 months I was finally listened too. I expressed my concerns again about her leg movement and that she still wasn’t able to sit unsupported at a health visitor clinic. I was asked to hold her under her stomach in both my hands in a ‘superman-like’ pose. But Helena did not look like superman, her arms and legs both flopped downwards and dangled limply. The Health visitor exchanged glances with her colleague and then my tears came. Up until this point I’d been concerned, but I’d just been made to feel like I was a neurotic mother, now someone was acknowledging my concerns, that there was something unusual going on here. I assumed at this point, that perhaps this might be that Helena had dislocated hips or something related to her back, nothing could have prepared me for what was to come.

A few weeks later I had noticed that Helena’s arms had become weaker and that her head would occasionally fall forward. We were still awaiting our referral appointment with the paediatrician, so I took Helena to the GP and expressed my concern that things seemed to be getting worse. He advised that Helena probably had an infection and we should give her calpol, I queried whether an infection would affect her ability to move, but he again treated me like I was neurotic and sent us away. I wasn’t satisfied with this assessment, so we took Helena immediately to A&E where she was admitted to the children’s ward straight away. The paediatricians there told us we would be transferred to a neurology ward in London as soon as a bed became available and in the mean time told us we could go home to await the bed availability. We were sent home with a discharge sheet on which under preliminary diagnosis read: “? Spinal muscular atrophy”.

Spinal Muscular Atrophy sounded like medical jargon to us, so as everyone does nowadays we typed it into Google to see what it was. This was when we got the shock of our lives. We read about how SMA was a deteriorating condition with no treatment or cure, we read how over time more abilities are lost until the ability to swallow and breathe becomes impossible. We read that it was a terminal condition and that the worst severity of the condition – those who develop symptoms within months of birth, those who don’t sit unsupported, just like our Helena – have a life expectancy of less than 2 years! I couldn’t believe it, it was like reading our worst nightmare, nothing could have prepared me for that!

Thankfully the transfer to London came the very next day and bloods were taken to see if Helena did indeed have SMA. We were assured there could be other explanations, but as the most severe condition SMA needed to be ruled out quickly. In my mind I had many questions, I wondered whether SMA was the most likely explanation or the most common cause of the symptoms Helena was displaying, but I never asked these questions. Knowing we would have a 2 week wait while the bloods were analysed, I didn’t want to know, I wanted to keep the hope it might be something else, something with a treatment, something that would get better instead of worse. So we went home again and waited.

The day before we were due back in London again for the results we were at my parents house “celebrating” (hard given the circumstances) my birthday, which would be results day. We’d just cut everyone a slice of cake when my phone rang with a London number. My husband took the call outside. He called for me and said the results had shown that Helena did indeed have SMA.

The following months were a crazy sea of appointments, meeting lots of new people, a steep learning curve about SMA, lots and lots of tears, lots and lots of sleepless nights, lots and lots of Google searches.

At first SMA consumed all my thoughts, eventually I found I could start to think about something else every once in a while and after a really really long time I finally found my new normal and our family’s new normal, where SMA featured in our lives, but did not run them.

The frustration right from the start of my late night Google searching, was that although SMA was not at that time considered a treatable illness, there were many trial treatments that were showing fantastic effects in SMA children. Helena was not eligible for any of the trials and it felt cruel to be forced to watch the fantastic results that children were having in trials and know I was being forced to watch my own daughter deteriorate, possibly that I might have to watch her lose her battle with this illness!

Thankfully that did not happen to us. Helena remained a strong type 1 until her 2nd birthday, when thanks to the help of TreatSMA, we found out about treatment being offered via EAP in Paris and we took Helena for her best birthday present – her first dose of Spinraza.

Helena thankfully now continues her treatment via EAP at GOSH and we have seen remarkable gains in her strength. Helena can now hold her head up for longer (something she’d almost lost completely at the point of starting treatment), she has a louder voice, she can lift her right elbow, as well as her left, off of the ground while laying down, she’s started to make a chicken-like motion while in her chair with her arms (showing increased shoulder strength) and just recently she’s been able to sit completely unsupported for the first time ever for up to 10 seconds!

Helena is a remarkable little girl. She’s brave and she astounds us all the time. We have big dreams and aspirations for Helena, just as any other parent does for their child. Our journey has not always been easy with Helena, but now we live in hope, where we once lived in fear, of what her future holds.

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