Connie was diagnosed with spinal muscular atrophy type 1 (SMA-1) when she was just seven weeks old. The week before, having noticed she was barely moving, my husband, Tim, and I had taken her into hospital. Before the diagnosis neither of us had even heard of such a condition. All too quickly we learnt that SMA-1 is a degenerative genetic neuromuscular disorder that affects the nerve cells that control voluntary muscles. The doctors told us that we shouldn’t expect Connie to make it to the age of two and over time she was going to lose all ability to move, swallow and eventually breathe. We were heartbroken.
However, within just one week we had been referred to Great Ormond Street Hospital (GOSH). We met with a neuromuscular specialist who told us about a new drug, Nusinersen, which seeks to correct the faulty protein expression that causes SMA-1. We were offered treatment for Connie under an Expanded Access Programme and told that Biogen, the company who produce the drug, had agreed to provide a lifetime supply of the medication to all children under GOSH’s care, free of charge.
Treatment with Nusinersen starts with three injections by lumbar puncture into the spinal fluid, carried out 15 days apart, followed by a fourth injection one month later. Connie now receieves one injection every four months and will continue to do so for the rest of her life. She hasn’t even been on the programme for a year yet, but the change has been astonishing. Just a few weeks ago she learnt to sit up independently, she can move her arms and her legs again and has brilliant head control – things we were told she would never master.
But just before Christmas we had an almighty scare. Connie does well with her breathing, but she is always going to have a weaker respiratory system, requiring bi-positive airway pressure (bipap) and suctioning as she cannot swallow. We had been out for the day and she had been fine, but that evening she seemed unsettled and Tim noticed she was working harder to breathe.
We took Connie straight to Broomfield Hospital. There she deteriorated rapidly and her oxygen saturation levels plummeted. She underwent emergency intubation and was transferred to GOSH. By this point we knew she had picked up a respiratory syncytial virus and that her lungs were shutting down. She was admitted onto the paediatric intensive care unit (PICU) for what we hoped would be lifesaving treatment and we were given overnight accommodation by the hospital. It was two days before Christmas. Whilst the world around us got ready to celebrate and open presents we faced the grim reality that we might lose our baby.
The next day I received a phone call from a lady who introduced herself as Tina. She told me she was the Assistant House Manager at Guilford Street House, free ‘Home from Home’ accommodation run by a charity called The Sick Children’s Trust. She said they had a room available for us to stay in and gave us the address. It was only a few minutes walk away from PICU. On arrival we learnt that the charity provide emotional, practical and financial support to families when they have a seriously ill children in hospital and are transferred miles away from home for treatment. We were so grateful and accepted the offer immediately.
Guilford Street House made all the difference to us over the days that followed. Connie stabilised somewhat and came off the ventilator, transitioning onto non-invasive oxygen. Although the ordeal wasn’t over, the doctors told us that Connie was the ‘miracle of the week’. Our heads cleared enough to appreciate the Christmas decorations in our ‘Home from Home’, the immaculately clean kitchens and, of course, our comfortable bedroom that was miles apart from the sterile hospital environment. I can’t emphasise enough how important it was that we stuck together as a family. Without The Sick Children’s Trust only one of us would have been able to stay in London with Connie and I couldn’t have managed without Tim. Leaving Connie was out of the question and home is over an hour and a half away from London.
We spent Christmas Day and the New Year by our baby’s side in the hospital, all the time willing her lungs to clear and for signs of improvement. Late at night we would say goodnight to Connie and make the short walk back to our ‘Home from Home.’ In the bedroom, Tim would read aloud from his book in an effort to take my mind off things. It was a comfort for us to know that if anything changed during the night when we were in Guilford Street House we would be back by Connie’s side in minutes and that there was a direct phone line in our room to the nurses’ station on the ward.
After 18 days in hospital Connie was discharged. It was such a relief to get back into our routine and take her home. Since then she has improved significantly and is even managing short periods off bipap altogether. Because she is teething she requires a lot of suctioning, but we are hopeful that with further treatment she will get stronger. Recently, we even read about a child undergoing Nusinersen treatment for SMA-1 in the USA who was able to walk. Sadly, in November the NHS did not authorise the use of Nusinersen, which means it will not be available to SMA-1 babies in the future. However, Biogen will honour their commitment to Connie and she had the latest injection on her first birthday.
We have been through so much and know there is a long winding path ahead of us, but we are so grateful to Biogen, the team at GOSH and to The Sick Children’s Trust. Before we were discharged home I told Tina that we would hold a Big Chocolate Tea party later on in the year and I hope to raise as much money as possible for the charity, so that more families, like ours, can be supported in free accommodoation during times of greatest need.
Emma Woulfe, Connie’s mum