I'm Charlie, I'm 34 and we live in Saint Albans.
This is Rupert, he is a little over 10 months old now
and he was diagnosed with Spinal Muscular
Atrophy type 1 when he was 8 weeks old. As you can see
Rupert loves his farm animals and,
you're going to speak for yourself,
he just loves generally playing, he's very chatty
and he's started to
started to read books with us and he loves just closing the book don't you?
So we've got lots of pop-up books and he's forever just tugging at them and
I think it's just any way of getting him to move.
It's almost intentional physio, which is terrible to say um we do we do a lot
of playtime that's making him move muscles to to get stronger, but
hopefully he enjoys it! He's a very happy baby.
Rupert has Spinal Muscular Atrophy type one,
he was born with a deletion in his snm1
gene. He has two copies of the backup of
the mn2 gene which is
why he is able to still move around at the point
of diagnosis. Zolgensma gene therapy treated the root cause of the deletion
in his smn1 gene. Rupert is our first child it took us
four years to to have a child after
multiple rounds of failed IVF and miscarriages.
At the time my husband and I felt that there must be a reason why, we were both
well and all checks showed that there were no issues with either of us
and during the pregnancy it was never flagged that perhaps we should do any
checks on Rupert. So
following his diagnosis we were we were really really shocked because no one in
our family has any history or suffers from any genetic condition.
It's incredibly difficult to still convey how as a family we felt receiving
this news, it was a condition that we hadn't heard
of before, the treatment as Zolgensma gene therapy wasn't available
and so it was very uncertain about what his
future would look like.
Rupert was born at full term and the labor was normal and his checks were
fine, it was around week four or five that we
noticed that his silent reflux had become really really bad
and that he was becoming increasingly floppy which seemed strange for the
symptoms of silent reflux, so at his six-week GPcheck
the doctor said that she felt that his movements were normal and when we looked
back at videos we we didn't agree. We wanted to seek a second opinion
so we saw a pediatrician who again just thought that the silent
reflux was perhaps causing some of his other symptoms.
A week later our health visitor, who had seen him for a second time, was able
to see that difference was really remarkable - that that he was he was
increasingly floppy. She suggested that I take him to see the
pediatrician again so that he can see what he was like a week later
and that was when he became very concerned and asked us to see a
neurologist.
At our neurologist appointment, when Rupert was
about seven weeks old,
he mentioned to us about Spinal Muscular
Atrophy and at that point we went straight
online and started researching what were the options
at the time, and this is in May 2021. There was only one treatment available,
Nusinersen also know as Spinraza, but there wasn't much available online
about the treatment and when we looked at Spinal Muscular Atrophy
it came up to say that type 1 children wouldn't survive past the age
of two and that there was no cure. So for us being very new
into this condition and this diagnosis,
our world just fell apart and we weren't aware of how important every day was for
his condition and his deterioration.
So when we first heard about the possible
treatments and at the time it was Nusinersen or Spinrazan and Zolgensma
gene therapy. We
had a million questions to the doctors at Great Ormond Street, they made it
clear that there was going to be a team of specialists to
help Rupert, whatever he was able to have in terms of treatment, or if he wasn't
suitable for treatment palliative care. So from a neuromuscular perspective they
told us about Zolgensema, it was incredibly new and
there was some fantastic case studies and patients
in the U.S and across Europe who were really thriving
after gene therapy from a treatment perspective. We took to the internet
to find out a lot about it and that's where we found out that there had
been clinical trials and there were patients in the U.S who were approaching
about five years old, and we were able to see that there were potentially
a really really positive outcome for Rrupert if he was eligible to receive the treatment
You go reach him go reach him, good boy
good boy, let's go all the way over good boy, lovely reaching! Head,
head, good boy keep turning keep turning keep turning,
well done Rupert!
When we received his diagnosis we were transferred to Great Ormond Street who
told us a lot about the potential treatments available, so Spinraza /
Nusinersen and Zolgensma. There's a lot more information available online,
I think that some of the charities, SMA UK for example,
have really really raised awareness and helped to spread that the word.
They've also helped in that it's not just what you can find online, but there are
also forums, there's facebook groups, there's instagram
profiles where lots of people are explaining their experience of their
child's condition and the journey that they've gone
through. We've built up a community from from this and we're able to all
learn from each other because, as part of the condition
there's so many different symptoms and the symptoms are on at such a varying
scale of severity, which means that the way that the child
is treated is so different from one child to another.
Around awareness of the gene therapy Zolgensma, I think that's been improved
a lot in recent months. I think that
for us, the first point of call would always be to go to the charities and the
hospital, ideally the hospital who is dosing if
possible, and a lot of that is now available
online.
We were incredibly lucky that because Rupert was strong enough, he was
eligible to receive Zolgensema gene therapy. We took that really difficult
decision that Zolgensma, even though we needed to wait an additional week for
treatment. Zolgensma treating the root cause the
smn 1 deletion that Rupert was born without
was something that we felt was going to be right for him.
We first took to SMA UK who's a charity in the UK who
have helped, and are continuing to help all families affected by SMA,
and they were incredibly helpful they told us about other families who we
might want to reach out to, they spoke to us about the possible treatments, and
they had a lot of information available on their website. For us the charity
really helped and our hospitals were also fantastic.
Rupert had Zolgensma, which is a gene therapy,
when he was 11 weeks old at Evelina hospital in London. He was then on
a high dose of steroids, he
was monitored with bloods every week to check that his liver was functioning and
responding well to gene therapy. During that time it was a case of making him as
comfortable as possible trying to live a normal life
and get him as strong as he could be from a respiratory perspective, eating, as
well as movement. So we did a lot of physio, we were working a lot on his
swallow, and the speech and language team at Great Ormond Street were really
helpful to assess what was safe for him to to drink. He was still too young to
have any weaning and knowing that he was able to come off
his feeding tube, which he had when he was having gene therapy and for the two
weeks after, it really meant that we were able to
start living a more normal life and
he was getting stronger and using his throat for his feeds.
Every child's affected in a different way and for Rupert, he's very strong we
are very very grateful and blessed that he is very strong
internally. It was his physical mobility that was
incredibly affected by his condition. I'm up,
coming in
good boy, head needs to go over the arm go on push push free this arm
go on yes good boy! Now push push the head
push push the head,
well done well done good boy!
and to do that has taken months and months, really important for us to just
take a step back and take Tupert at the pace that he needed
to go at. So it was a
it was very very difficult, more for us to process that his treatment was going
to be long term, this gene therapy wasn't a one time fix and he was now
thriving. It was going to be a very life-long journey
we were advised that Zolgensma can take a year to filter through the body and
for any changes to be seen, and so we were naturally having to be
very cautious with him also during a pandemic.
We were really limiting his exposure to other children and
therefore classes and things, so he wasn't getting the opportunity to
perhaps see other children move and to move himself.
Since treatment he has
increased his mobility and his strength. His coordination is so much better, so
he's incredibly dexterous with his with his fingers
and he's able to hold you know multiple objects in in both hands
and looking against a
a typical child's development we're able to monitor how how he's progressing and
his fine motor skills. He's doing really really well
since treatment, he has become really a lot more mobile, he
is cognitively really well, so that's been developing really really nicely and
he is eating a lot more, so all of the things really that the
doctors told us that Zolgensma should help with,
it has helped.
Zolgensma gene therapy has given us our child,
so for us it's given him a lifeline.
Zolgensma has, he's thriving and
he's now eating independently, he is sleeping
as a normal child would who doesn't suffer from SMA
and he is starting to move and become more independent. He's also cognitively
developing along with children his age and for us
it's just incredible to see and I think it's incredibly rewarding because this
treatment has allowed him to to be become the person that he is today,
and for that we'll be eternally grateful to the NHS for for giving our son this
this lifeline.
There needs to be slightly greater understanding and awareness of the
symptoms so that families aren't battling to get a diagnosis and to be
taken seriously because every day matters if your child has Spinal
Muscular Atrophy.
Cognitively, he is all there and he's developing really well, so I we hope that
he will be able to attend school
at a nursery and be able to flourish with other children of of all
abilities. We are really fortunate that Rupert can
live in both worlds and experience the the benefits of of having special needs
and also of being able to be in potentially schools with with
able-bodied and minded children. Our hopes for him are that he can be as
independent as possible, we are trying to teach him how to move and to communicate
so that he can be independent and not become frustrated,
and I think if we can continue that as he gets older, because he is only 10
months old at the moment, then I think that he will have an incredibly happy
life.