Joseph’s story is one of perseverance, resilience, and love. This blog post explores Joseph’s medical journey, his diagnosis of GNAO1, and the crucial support his family receives from us here at the James Hopkins Trust. Written beautifully from Mum, Christine’s, perspective.
Did you have any indication that Joseph would have any medical needs whilst pregnant?
When I was 17, I was diagnosed with a rare condition that left me unable to have children. All life is a miracle to be cherished, but Joseph’s life especially is thanks to the miracle of IVF and the wonderful gift of a donor. As an IVF pregnancy we were able to have early checks and scans, none of which detected any issues.
Did you experience a ‘typical’ pregnancy?
Being pregnant was one of the most beautiful times of my life. As it was something I had always longed for I appreciated every moment, even the discomfort, the itchy tightness of my tummy and the swollen ankles towards the end. I felt like I was really blossoming in that time, and I did as much as I could to listen to my body and connect with the little soul developing inside me. Even though I did not know his name then, I loved Joseph from the moment I knew I was carrying him. Over the 40 weeks everything went so smoothly. I would feel him kick and hiccup all the time, and at check-ups his heartbeat and growth were always perfect. Even the birth was relatively straightforward, although I swiftly had to let go of any preconceived ideas of a natural birth in a birthing pool with my meticulously compiled playlist. At 40 weeks + 13 days I went in to be induced but things quickly escalated when they realised, I had lost a lot of amniotic fluid and within 20 minutes I was put through for an Emergency Caesarean. Despite this Joseph was born completely healthy and we never had any inkling of what was to come.
What is GNAO1?
Joseph has GNAO1 – a rare genetic disorder which affects a protein coding gene. There are very few known cases worldwide, and there is no known treatment or cure for the condition. We are part of a global community of our 300+ affected families, many of whom are proactive in supporting research into potential treatments.
The impact of this single genetic change manifests differently in everyone, not least because of the hundreds of other genes that make up an individual’s DNA. For Joseph, his GNAO1 presents as a complex picture of neurodevelopmental delay, dystonia and epilepsy.
At which point was Joseph diagnosed?
With hindsight, I always struggled when Joseph was little. He wouldn’t sleep and was distressed a lot of the time. He struggled to feed effectively, and I would spend hours upon hours every evening feeding him. I had several bouts of mastitis, and along with the lack of hormone replacement therapy which I had come off through the pregnancy and stayed off to be able to breastfeed, I was physically drained. Whenever I expressed my worries to our health visitors at the time they would just tell me it was me who was struggling, and that Joseph was thriving. He was, I suppose, but he was starting to miss developmental milestones and although he was thriving, I was struggling.
From five months we started to notice he was still unable to support his own head and after pushing again, we convinced the health visitors to come out and complete a SOGS assessment in March 2020. The day that test was scheduled to be undertaken was the day that the country went into its first lockdown. We continued to push for someone to help us and finally saw a paediatrician via private appointment in May 2020, at which point we were finally referred for further testing via the NHS.
Following years of testing, hospital stays for abnormal movements, and investigations we received Joseph’s diagnosis on 4th February 2022. I will always remember the date. And just like when I was given my own diagnosis at 17, I will always remember the exact scene as we were told the news at our kitchen table. Our paediatrician at the time trekked across the county to our home in Chepstow to tell us the news in person.
The following morning, I got up early while Joseph was still sleeping and was preparing to sign off work when and take some time away to process everything. When Joseph woke, I knew something wasn’t right and he then started to have his first epileptic seizure. We called 999 and when they arrived, they administered emergency medication, but the seizure wouldn’t stop, and he went in to status for over 45 minutes. He was airlifted to Bristol Children’s Hospital and induced into a coma. I remember standing, waiting for the helicopter to depart, in the freezing cold of that February morning in nothing more than my leggings and running top (I had planned to go for a run to clear my head after dropping Joe at nursery). We followed the helicopter to Bristol. I don’t remember how we got there but I do remember running through the city-centre traffic to be by his side at the emergency department. The experience of seeing your child being admitted in such circumstances is nothing other than surreal, but it is also when you see the NHS at its best. The room piles with professionals, each one coming in their uniquely coloured scrubs to do their specific role, each one following their own specific part of the script. Everyone has a copy except you, and you can only helplessly watch and be there as things unfold and they do the best for your child. I have been the observer in this scenario twice since then and I am sure there will be occasions where Joseph will be in intensive care again. It doesn’t get any easier, but I feel less helpless and more informed each time.
How does GNAO1 affect Joseph?
Joseph’s presentation changes over time. Sometimes his dystonia may worsen, at other times his seizures become overpowering, and he can do little more than eat, sleep, and endure seizures. These are the really hard times for Joseph and for us as a family. They feel bleak, and unfair, and never-ending. But I always have faith and hope and love in Joseph, and I know that even in the darkest of times my little boy who laughs and giggles and loves life is still there.
We are cycling through medications to try and find something that works, but it is a moving picture, and we have to enter into every treatment knowing that good or bad, nothing lasts forever. With each iteration we try to build a deeper understanding of Joseph’s triggers so that we can pre-empt or address them. I am and always will be observing him carefully, noticing minor changes, and looking for patterns in his presentation. We are just coming out of a really bad period for Joseph and after an absence of too long he is starting to find his voice, his body and the sparkle in his eyes again. I think when you are confronted with how bad things can get you are grateful for these tiny things that may seem inconsequential to others but that make our world a lighter and brighter place.
Is Joseph’s GNAO1 likely to improve, stay the same or worsen as he grows?
It is likely Joseph will have a short life, so we try to make sure he is content and happy as he possibly can be. Without a treatment or cure Joseph’s movements are likely to become stronger over time, which may in turn trigger his seizures or vice versa. As Joseph is not able to sit or walk unaided, further into the future he may also be at higher risk of developing medical complications which may then become critical, such as chest infections, loss of range of motion, and dislocation.
We do not often speak about death or grief or pain in our society: it’s an incredibly hard concept to talk about and it is often shield away from or put in a corner to be thought about later.. Living with Joseph’s condition means we have to confront these issues head on. It’s a scenario nobody can prepare for and there is no easy way to navigate it. There is a common phrase ‘I would die for my children’, but I would rather live fully for my Joseph. For me, this is more meaningful and a reminder to make each day count.
Is Joseph still experiencing seizures?
We still hold hope, but it’s unlikely that Joseph will ever be seizure-free. In a good period and when well managed Joseph will experience around 5 seizures per day. He often has seizures through the night and early morning which mean I rarely get a night’s sleep. When things are bad he can experience upwards of 12 tonic-clonic seizures per day and a recent EEG captured over 80 epileptic episodes in 24 hours.
With Joseph being non-verbal, how do you find he communicates with you?
Joseph is non-verbal but he has the most incredible way of expressing himself, making himself known, and bringing joy to those around him. He vocalises and uses his facial expressions to show when he does or does not like something, and he doesn’t leave you in much doubt either way! He has the most beautiful big brown eyes which tell you so much.
Reading Joseph’s body language and muscle tone are key indicators as to how he is feeling, so I always feel I need to be closely connected to him to support him. These signals are very subtle, and probably very different from any other child. So, we would only ever leave Joseph in the care of those that we trust, and having good communication and a good handover with any care giver is vital.
How has having a disabled child affected yourself and Simon?
I don’t think anything can prepare you for life as the parents of a disabled child. I have been in ambulances and emergency departments more times than I care to mention, I have stayed longer in hospitals than I ever thought possible, and I have fought harder and with more determination for everything that we have in place for Joseph. It is a life of extremes – from intense joy and pride in Joseph’s achievements to feelings of intense sorrow at the path in life he, and we, have been given. But I don’t dwell too much in the feelings of sorrow because I know that despite the hardships, Joseph brings light to this world and that anyone who meets him can learn something from him.
It is a world we previously, naively, knew nothing about. Every inch of support we receive as a family is hard fought for and hard won, and I know this battle is echoed by those services that give us the support we need to help Joseph thrive. It’s incredible to think that we have to prove ourselves at every turn and that things could be made so difficult by bureaucracy when we just want to make the most of the every day.
What does JHT mean to you and how have we helped?
I remember receiving the letter from JHT to confirm that they could support us. It was bittersweet – the joy of finally receiving the support we so needed as a family paired with the tangible sadness of admitting that Joseph’s condition meant he was eligible to receive support from a hospice. Taking him to JHT used to feel huge and scary and sad, but now it is absolutely part of his, and our, lives. By providing a safe place for him to grow and explore and just be him, it expands his world which can otherwise feel quite restricted at times. We don’t need to worry when we take him there or explain to anyone if he’s having a bad day or justify if he’s not feeling up to much. I know all the staff there just accept him and love him as he is and take such good care of him. They have all the practical facilities to meet his needs, such as wheelchair access, changing facilities, cot beds and floor mats, but on top of that he has access to so many amazing facilities that enrich his time there, like the sensory room, the playroom and the lovely garden. He is always kept busy with fun activities which we hear about when we collect him. We have also met other families through JHT activities such as Stay and Play and the Christmas Party, which has helped us expand our support network.
There aren’t many places that I would feel comfortable leaving Joseph, and his complex medical needs mean he has to have someone around him who can spot, manage and respond to his emergency protocol. Knowing that JHT can both nurture Joseph and look after his medical needs is a huge support to our family and helps us find the resilience, the patience and the energy to keep going.
