Grace is a happy 4-year-old girl, who is full of smiles and has a knack of making everyone she meets smile too. But Grace has had to overcome so much in her life already.
Grace was born during the pandemic on 5 May 2020 to first time parents Jason and Sarah. They all live together in Plymouth.
Grace was born via an emergency c-section and due to the pandemic Jason was not allowed to be with Sarah during the birth.
“The next couple of months were all new to us, we didn’t know what we were doing. We had first parent syndrome”, said Jason.
Jason explains how investigations into Grace’s condition began:
“At a routine hip x-ray after Grace was born, a physio noticed her head was falling to the right and she couldn’t bring it back up – this was where things started.
“I remember really vividly on 24 September; I took a photo of Grace sitting up by herself. The next day, we had a phone call from the doctors asking if we could come to the hospital for a conversation.”
The doctors explained to Sarah and Jason that their 4-month-old daughter had a life- limiting condition called Spinal Muscular Atrophy (SMA Type 1). Grace’s muscles were deteriorating, and without any treatment she wouldn’t live to see her 2nd birthday.
Jason said: “Sarah just broke down in tears, she had been doing some research in the lead up to us finding out, but we had no idea what the condition was.
“Hearing that news was very shocking and not something that any parent wants to hear about their child, especially their first. We remember when we were told, we sat in the car and thought, “what the hell do we do now?”
Jason and Sarah visited their parents and had to break the news that their first grandchild had received this life-limiting diagnosis.
The family were then put in touch with different medical professionals in Plymouth and Bristol.
“From the moment we found out about Grace having SMA, it was a rollercoaster journey of emotions, unknowns and not knowing what the outcome would be”, said Jason.
“One of the possible outcomes that our doctor told us, was that there was treatment called Nusinersen (Spinraza) for children that have SMA 1, which would prolong her life to the age of 3, 4 possibly 5. But they weren’t sure whether it would work for Grace.”
Grace started the treatment when she was 6 months old to help slow her muscle deterioration. It was given via an injection into the spine, which she had in Bristol every two weeks. There was also another treatment in the pipeline called Zolgensma, a one- time drip infusion.
Zolgensma is a gene therapy that provides the data that is missing, and halts deterioration, but doesn’t fix what is already lost and damaged. Despite there being strict criteria to receive this treatment Grace luckily qualified and had the life-changing treatment when she was 16 months old.
Jason said: “We were on the fence of whether to have Grace receive it or not. It was horrible waiting. We knew at the time she wouldn’t see past her 5th birthday, but we’d heard of the treatment and the effect it can have.”
Despite asking advice from doctors, family and friends, Jason and Sarah knew this was a decision they were going to have make themselves.
“Being in that period of uncertainty is not a nice place to be. We don’t know what tomorrow will bring and must live one day at a time. Anything that we were offered or advised to do, if it was the right thing to do for Grace then we would’ve done it. And that is what we did with the Zolgensma.
“We’ve never looked back; she has come on an incredible journey. Just before she was treated, she couldn’t move her arms, legs or head; she would just lie flat. Since she has had the treatment, the progress she has shown has been incredible.
“Now she can sit, unsupported with really good head control and she can move her arms. The only thing we haven’t seen progress as well as we had hoped is the mobility in her legs. We don’t know which way this is going to go.
The journey that we are going on now is still unknown. Nobody knows the answers to what the future holds for Grace.
There is a 1 in 10,000 chance of a child getting SMA. Both parents must be carriers, and there is a 1 in 4 chance that the child can get a form of SMA.
Grace also has scoliosis, which is curvature of the spine, this is a common side effect of SMA. Her spine has deteriorated as she has got older, and she now must wear a spinal jacket and may have to have spinal surgery in the next 12-18 months.
Jason said: “Yet again this is another emotional moment, and another process we will have to go through which will be made even harder now as Grace is going to know everything that is going on and we will have to explain all of this to her when the time comes. This is not something we are looking forward to at all.”
Despite daily struggles Grace is such a happy and cheerful girl, waking up with a smile on her face every single day, and going about the day like she doesn’t have a care in the world.
“She knows that she is a little bit different to other children, and she has asked us a few times, why can’t she walk, or when she will be able to walk. We have just been honest with her, we have just said, your legs don’t work properly yet. This is why you have your Wizzy bug (electronic wheelchair). This gives her independence and freedom.”
Jason explains how him and Sarah try to make anything possible for Grace so she can still have the same experiences as others her age:
“We don’t let the condition stop her from doing things she wants to do, like going to the park, the cinema, or going swimming. We just have to change our mindset in making things accessible for her and not making a big deal out of it.”
Jason and Sarah set up a Facebook page called Amazing Grace to showcase her journey, and update people on all the things she gets up to and the challenges she faces. They find it useful as they don’t then have to repeat the same information to those close to them.
It is also a tool for them to raise awareness of SMA, which was their ‘natural instinct’, says Jason.
“She’s got 1.2k followers, and she gets messages from people in America and Australia saying how much joy she brings to their lives. When we read comments like that, we are reminded that’s what this page is for.”
Little Harbour has been part of the family’s life since Grace was first diagnosed:
“We were a little bit apprehensive about visiting as we didn’t know what to expect. We knew it was a hospice and that they look after children who are terminally ill or end of life, and that was in our mind for Grace.
“I do remember going for a day visit, and it was a bit strange as it was lockdown. But I remember thinking how lovely it was, as it was all level access, and catered for children like Grace. What we also liked was the parent space upstairs, which we have come to really appreciate.
“The staff there are incredible. The process that they go through to understand us as a family, and Grace, is just really lovely, they just want to get to the centre of Grace and the things that she likes, and the medications she has.”
The family recently had a very special stay at Little Harbour over New Years Eve:
“It was the most incredible moment for Grace, to be where she was, and we met other families we had never met. Grace met another child that had a Wizzy bug, and their initial reaction to see each other in a Wizzy bug, it was a rabbit caught in the headlights moment, she thought she was the only one.
That’s the environment Little Harbour creates, everyone is different, but they can also be the same as well.
“She has the most amazing time and has made friends with the siblings and the other children. The staff are just incredible looking after Grace during the day and night, which means Sarah and I have time to refresh and relax.”
Grace is so settled at Little Harbour that during her stays she is happy to spend time with the Care Team and other children which means Jason and Sarah can enjoy some downtime to themselves.
“We can sit on the balcony and enjoy a cup of tea or coffee. and go for walks in the garden. We always look forward to being able to relax and recharge our batteries.
“As soon as we know we’re going there and we tell her, she’s buzzing. You would not believe the amount of excitement that she shows when she knows she’s going to Little Harbour.
“She knows the staff will look after her; there’s things she can do and access.
“A highlight for Grace is being able to use the hydrotherapy pool where she can enjoy feeling weightless while splashing around and playing at her very own pool parties!
Last time we left Little Harbour, Grace bawled her eyes out saying ‘I don’t want to leave, I want to go back’. For her to say that about a place that care about the children and the families and have that reaction was so special.
Milestones for Grace have always looked a little different to other children but starting Primary School was incredibly emotional for her parents;
“We never thought Grace would go to school, so to see her in her school uniform was just the most magical thing, knowing the journey we had been on and the uncertainty we were going through.
“What the future looks like, we have no idea in all honesty. We know that things will get more challenging, what those challenges are, we don’t know.
“We take it a day at a time and make sure Grace is enjoying life as much as she can, whether that’s with us, in her Wizzy bug, or with her grandparents. We’re making sure that she is making milestones.
“We have a great relationship with Little Harbour, and a great support network with family. Knowing that Little Harbour is just an hour away, that we can rely on them if we need to go down for a day or a weekend. Knowing they’re just a phone call away, takes the pressure off us if we’re thinking we can’t get through the day.
With the impending spinal surgery, we don’t know what to expect. We may rely on Little Harbour a bit more when that time does come. We’re so appreciative for the support we get from family, Little Harbour and the wider community.”