About Helena


Helena was born 1 minute before sunset, at 17.17, on 20th February 2015. Weighing a healthy 8lb 2oz. We were thankful that we had had a healthy baby girl. I had had as low risk a pregnancy as was possible, apart from the odd bit of morning sickness and a very quick labour and low-risk normal delivery. Helena was born with a triple crown which to this day gives her the trademark sticky up hairstyle that we all love.


It was fairly quickly after Helena’s birth that I started to think there was something unusual going on, unlike our 1st daughter we could never prompt the walking or stepping reflex in Helena and by 6 weeks she wasn’t able to put any pressure at all on her legs when held in a standing position. I first became concerned that Helena was showing signs of leg weakness at around 8 weeks following her normal newborn check with the GP. I remember the GP asking me if Helena moved both arms and both legs. I answered yes, because she did move them, but that question continued to dwell on my mind following the appointment when I considered that although she moved her legs, I wasn’t sure whether she moved them normally. It certainly wasn’t vigorous movement and she didn’t draw her legs up off the ground.

However, Helena started to meet milestones, she was smiling, she gained more head control. At 3 months she was laughing at things. I was reassured that all children develop differently and perhaps my other daughter had been advanced. By 5 months Helena was rolling from back to side and just after 5 months Helena was able to roll from front to back. However, after 6 months she stopped rolling all together. Helena never managed to sit unsupported. At 6 months I sought the advice of health professionals as I was concerned by her lack of weight bearing and weak leg movements. The advice I received at this time was to place her on her front more. I have since found out this is the exact opposite of what you should do with SMA, but I tried to do this and waited another month. Still concerned I sought advice once again, this time, a different health care professional, was concerned and made referrals for paediatric review.


By 8 months however, whilst waiting for the referral appointments, I noticed that Helena’s arm strength had decreased and where at 6 months she had been able to finger feed herself and raise her hands to her mouth in a seated position, now she was unable to raise them above waist height when I tried to play with her in her highchair. We took her to the GP and then A&E and she was admitted to the children’s ward straight away. The paediatric team reviewed her and arranged for her referral to a specialist neurology unit in London. She was given a preliminary diagnosis of Spinal Muscular Atrophy. Due to the pressures on the doctors of the busy ward, we were discharged without this being explained to us. As is the way nowadays, we googled the condition once we got home and I remember breaking down in tears upon hearing that it was every parents worst nightmare. I read that we would have to watch as our baby continued to decline, that there was nothing we could do about it, that we might have to one day say goodbye to our baby girl.

In London blood tests were taken to test the SMN1 gene which would indicate whether Helena had SMA or not. We were discharged for the long wait to find if Helena did indeed have what we all dreaded. The neurologists explained that there were other possible conditions that may have explained the symptoms and that what appeared to be a decline in gross motor function may be due to the effort required to move growing legs and arms. We held onto every hope that it was not SMA, that it was something else. But unfortunately when the results came, almost 2 weeks later, we did not receive the news we wanted and Helena was diagnosed with SMA. Her consultant who we met the day after learning her diagnosis informed her that he would classify her between Type 1 and 2, because although she did show symptoms before 6 months and she was never able to sit unsupported, she had not declined as quickly as may be expected of a straight Type 1, and she was close to sitting unsupported as she could sit with minimal support.


The impact of this news was initially like grieving. All I could think about was the thought of my baby girl dying and I mourned the loss of all the hopes and dreams I had once had for her. Emotion would could upon me in waves and I would burst into tears at intervals during the day. As time went on the waves instead of coming multiple times a day, turned into good days and bad days. I started to read whatever I could and to search for anything possible that might help. I still do read whatever I can and keep up with anything that might be potentially able to help. I think in time you come to make new dreams and come to the realisation that you’ve got to make the most of the time you have, however long that might be.