Dominic (aged 13) is a SWAN child (Syndromes Without a Name), which means he doesn’t have an overriding diagnosis to explain the many issues that he has. He is currently on a few genetic research studies that are trying to map what each gene is responsible for.
Dominic's mum, Renata: "We are hoping that this will help science catch up with super rare children like him and we’ll eventually know what his condition is and, more importantly, what the future might hold for him. His condition means that he fatigues very easily, and he cannot walk, which means he is a full-time wheelchair user. He has had over thirty surgical procedures, many of them major operations on his stomach and bowel. This means that Dominic relies on a feeding pump to deliver the majority of his food and water. He also has endocrine issues which mean that he has to have medicine and injections daily to help him grow and for his body to balance his hormones. Without a diagnosis we have no idea of his prognosis, so we just live life day to day and deal with issues as they arrive.”
What impact has having a child with a long-term health condition had on you and your family?
“The impact is both negative and positive. It can certainly be time consuming. For example, Dominic is under multiple consultants both locally and at a specialist children’s hospital. Day to day Dominic requires quite a lot of medical intervention and this can seem quite overwhelming at first, but it’s amazing how quickly you get used to it. It is probably the emotional toll that is the hardest part to parenting a SWAN child. It can be very isolating; you become the sole expert in your very unique child, and with no medical papers written about the condition it comes down to you to navigate your child safely through the (often conflicting) treatment plans that the specialists devise for them.
Having an undiagnosed child also impacts the rest of the family, and siblings are often forgotten about. I have spent many years of Dominic’s life living in hospital with him. He has had multiple, long admissions (up to eight months at a time), and with two other children who also need me, it can be incredibly difficult for everyone, not only emotionally, but also financially as living in hospital is expensive, as is paying for childcare for the other children. The effect on the mental health of parents of children with complex undiagnosed genetic conditions is also little appreciated. We live everyday with huge uncertainty about what the future might or might not hold for our children, often having lived through multiple traumatic experiences of nearly losing our children with little or no support. Many of us live with Post Traumatic Stress Disorder that reflects the impact that so much uncertainty can have on a family, and how little help there is for those of us who never get to a place where we can start moving on, as this limbo is never ending.
However, all that being said, Dominic is who he is because of the life he has led, and he is undoubtedly one of the most remarkable children you could ever meet. It often surprises people when I say that, despite everything we have been through, I wouldn’t change a thing about our life so far. It has made each member of our family who we are today, and I believe we are fortunate enough to be able to appreciate what is really important in life because of what we have been through to get here. Being Dominic’s parent has taught me resilience, patience, perspective and the importance of seeing the funny side of even the darkest moments. It has also opened up a world to me that I feel privileged to be part of. I get to work with some of the most passionate, innovative and motivated people who all want to make the world a better place for children like Dominic, people just like the team at Roald Dahl’s Marvellous Children’s Charity.”
How has your Roald Dahl Nurse, Anna, help you cope with these challenges?
“Parents of complex children feel incredibly powerless when it comes to their child’s care. When you have a complex child like Dominic there are many different people involved. The majority of these people only see him for a limited amount of time a couple of times a year and even then only ask about the part of him that they are interested in. This means in practice that decisions are being made by people who have no real understanding about Dominic the child and Dominic’s family. In the absence of family members or the child being present in these meetings, the very best next option is to have someone like our Roald Dahl Nurse, Anna, who has taken the time to get to know the child and their family, who understands the dynamics and asks what is important to them.
The hardest part of parenting Dominic was always feeling utterly alone. Our Roald Dahl Nurse, Anna is our family’s voice in those meetings where they are making decisions that will directly affect our lives. It’s a huge responsibility, but without her there reminding everyone that he is much more than just a sum of his various conditions, Dominic’s voice would be completely lost. Anna, who is the world’s first Roald Dahl SWAN Nurse, has gone a long way to helping Dominic become less anxious about having to deal with the many doctors he has to see. She has taken the time to get to know him and actually asks him what he wants and then helps him communicate it to the doctors.”
How would you feel if you didn't have your Roald Dahl Nurse, Anna?
“Like we were completely on our own.”
What would you say to the people who have donated to Roald Dahl's Marvellous Children's Charity and helped fund your Roald Dahl Nurse?
“I would say congratulations as through their generosity they have become game changers. Our Roald Dahl SWAN nurse was the first one in the world. This isn’t because families like mine haven’t needed a nurse like Anna before, but because Roald Dahl’s Marvellous Children’s Charity were the only ones willing to see that just because something doesn’t exist doesn’t mean that it’s not necessary, it’s just that someone has to be innovative enough to pave the way. We need more charities that are willing to ask what help they can give that no one else is already giving as it would mean that the most vulnerable groups like children with undiagnosed and rare conditions don’t continue to be overlooked. I think that Roald Dahl would be delighted that the money the charity raises goes directly towards championing the underdog, just like he did in his books.”
Dominic: “I love computer games and comic books. Literacy is my favourite subject at school because I want to be a comic book author. I also love my accessible swimming pool at school.My favourite Roald Dahl character is Matilda as she has a superpower. If I was able to choose any superpower it would be the same one that she has as I think it would be great to be able to move things with my mind.It’s great to have my Roald Dahl Nurse, Anna. She’s good fun and helps me deal with the doctors when I feel that they don’t listen to me. She asks me what I want to say to the doctors and then helps me say it in the appointment, or after the appointment if I don’t think they are listening to me. She also reminds me what I wanted to say if I forget.If I didn’t have Anna, I would probably go back to begging my mum to not make me have to go and see the doctors. The advice I would give other children who have to be in hospital a lot is to makegood use of technology. You can keep in touch with your class and friends using things like Facetime. Also don’t focus on what you can’t do, then you’ll never be happy, focus on what you can do and be happy about it.
When I’m older, I want to be a comic book author. I have a lot of ideas for new superheroes and villains and would love to see them come to life. I would love to meet Mark Hamill because he voices the Joker and is my favourite voice of the Joker, and he is also, of course, Luke Skywalker!”
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