Maisie and Amelia's Story
I’m Sinead and with James, we’re proud parents of five beautiful girls. We had no history of any genetic conditions in either of our families, there were no concerns about Sinead’s pregnancies. Maisie, our fourth child was born on 8th February 2018. At just 4 weeks old we became concerned, as we were beginning to notice that she wasn’t developing in the same way our other girls had. Her arms were very floppy – when I carried her, they would just drop down. We could always hear a rattling in her chest, like she constantly had a cold, and we noticed her breathing looked different, you could see it in her belly.
We were so worried about Maisie that we took her to our local hospital where the doctors examined her, expressed their concerns and quickly transferred her to a specialist hospital in London. This was a terrifying time for us and our family.
Maisie had a blood test which, at six weeks old, confirmed a diagnosis of Spinal Muscular Atrophy type 1. We were told that being symptomatic so early, indicated that Maisie’s SMA was very severe. Without treatment she probably wouldn’t have seen her first birthday. At that time, no treatment was funded by the NHS, but thankfully, Spinraza, the first of what are now three treatments for SMA, was available via what was called an Expanded Access Programme for children who had SMA Type 1. So, Maisie stayed in hospital for observation and she had the necessary loading doses directly into her cerebrospinal fluid via intrathecal injection. Since then, she has had to go back to the specialist hospital for more of these, and this would have to carry on three times a year for the rest of her life.
After seven weeks in hospital, were all reunited at home – that was May 2018. Maisie struggled with reflux issues and seemed to be silently aspirating her feeds, (when small amounts of milk enter the lungs due to weak swallowing muscles) which led to recurrent chest infections. She hadn’t been home for long when a chest infection made it too hard for her to breathe on her own and she was ‘blue lighted’ to the paediatric intensive care ward back in London. To keep her lungs safe, she had an operation to fit a jejunostomy tube – a soft plastic tube placed through the skin of the abdomen into the small intestine – that she can be fed through. She’s on medication and has continuous feeds during the day which has helped her such a lot.
Maisie’s now four years old and has had no hospital admissions for over a year, she lives a full and exciting life with her sisters. It’s not a life without challenges; Maisie has very weak respiratory muscles so can’t cough effectively on her own. This means that her daily routine involves twice daily respiratory physiotherapy, using a Cough Assist Machine which delivers positive pressure to the lungs to expand them and then a negative pressure to pull out any secretions in the lungs. James or I, or whoever is caring for her, have to insert a thin suction tube about 10cm down her nose to remove the unwanted secretions. It’s a very uncomfortable procedure for Maisie. Also, whenever Maisie is asleep, she has to use a bi-pap ventilator to support her breathing; common colds mean she might rely on the bi-pap all day and could result in hospital stays. More severe colds could still see her intubated – when she would have a tube through her mouth or nose, then down into her tracheain intensive care.
In May 2021 we had the wonderful news that I was carrying our fifth child. With a one in four chance of SMA for every child we have, the celebrations were clouded with worry. However, in the three years since Maisie’s birth there had been two more treatments approved for SMA. We knew that Zolgensma, a one-off gene replacement therapy could be given to our baby before the onset of symptoms, which gave us hope. We knew that if our new baby had SMA like Maisie, the condition may not come with such severe mobility and health complications.
At 13 weeks pregnant I had a blood test. Incredibly, it is possible to separate the mother’s DNA from the baby’s and after an agonising two week wait, we discovered that our unborn child did indeed have SMA. We were offered a termination which, for us family, wasn’t an option. Plans were started for pre-symptomatic treatment, initially of Spinraza and then the one-off dose of Zolgensma.
We welcomed Amelia Grace Ryan into the world on the 1st February 2022. Three days later she was assessed at Great Ormond Street. They tested her muscle function with an electronic stimulator which confirmed her muscles were functioning normally – she was pre-symptomatic. On 11th February, at just ten days old Amelia received her first dose of Spinraza.
Now, in April 2022, preparations are being made for Amelia’s Zolgensma infusion for the end of May. Thanks to pre-symptomatic treatment, Amelia continues to develop normally which is a stark contrast to Maisie who at the same age, had lost all movement in her legs, couldn’t raise her arms against gravity and was losing the ability to breathe and swallow independently.
We have now had what, for us, is the wonderful news that Maisie is now also eligible for Zolgensma. For Maisie, her SMA has already caused some irreversible damage, so it’s not known what further gains there will be for her with her breathing and motor abilities. But as with the other NHS funded treatments, Zolgensma should stabilise what’s otherwise a progressive, weakening condition. For us, this one- time treatment means that Maisie will no longer need her regular Spinraza intrathecal injections. With our continued hard work and care, including physiotherapy, Maisie should maintain as good health as possible and maybe even strengthen her muscle function. The plan is that the sisters will receive their gene therapy just one week apart.
Watching them grow up together sends a powerful message of the importance of pre-symptomatic treatment. Unless the condition is known to be in the family, couples don’t know if they’re carriers of the faulty gene that causes SMA. Newborn screening is the only way babies like Amelia and Maisie can have the best chance of a healthier and more independent life.
Sinead
May 2022
In October 2023, Sinead shared these updated videos: