TRISTAN
Tristan in his 2023 photoshoot - All photographs by Ceridwen Hughes
Tristan has Russell-Silver syndrome (RSS) 11p15. He was born in the USA in 2010 where he spent the first few years of his life before the family relocated back to the UK. We spoke to mum Celia about Tristan, his condition and how their lives are affected by the diagnosis.
“We knew something was wrong when I was pregnant with him because he wasn't growing and had a very short umbilical cord.
We had many check-ups and appointments as he was born after an emergency c-section because the perinatal specialists were concerned for him, which was highly traumatic. He was very underweight, he didn't eat (RSS children don't eat generally for the first five years) so he was fed via an oral syringe because he couldn’t swallow properly, and he would just throw up everywhere, it was awful.”
Tristan has Russell-Silver syndrome
The family were discharged and went to regular check-ups in the paediatrician’s office from birth. When Tristan was about six months, a nurse practitioner said ‘there's something wrong here, there are too many things wrong with this child, you need to go to see a geneticist’ and so the family were sent to the Children's National Hospital in DC for an appointment. After a clicnical examination, the family got a suspected diagnosis but it was not given with any care or understanding. “We saw this geneticist, she was young, and her English was limited. That's not disrespectful to her, but obviously, it hampered her ability to communicate effectively with us to give us his diagnosis. In the end, she retrieved a clinical book and showed us this clinical photo of a child only wearing underwear, with the line across the child’s eyes and I just absolutely crumbled. I was so angry with her. It was just awful. Luckily, we were given a follow up appointment with a geneticist with excellent patient care. He sat us down very carefully and did exactly what you should do. In fact the hospital went above and beyond to support my second pregnancy.” The clinical diagnosis was later confirmed through genetic testing.
Once the diagnosis had been given the family learned more about RSS. “I remember when one of the geneticists saw him for the 1st time and they said he was the tallest dwarf they had ever met because Russell-Silver Syndrome is a form of dwarfism, but because we were so tall, he was actually a long baby, but very, very underweight. We were told that he was delayed and missed all his milestones. The geneticists said he wouldn’t be able to talk and all these things. He was non-verbal until about 3 or 4 years old but could sign over 200 words. He just used to make funny sounds and then almost, it seemed, like overnight, he just suddenly started talking.”
Tristan was born in the USA
The move back to the UK and the continuity of Tristan’s care was a struggle. Getting into the English medical system was a terrible shock and frustrating for the family. “At the time Tristan was on liquid nutrition but we couldn't get it here. We couldn't get a prescription, I couldn't get to see someone, and I was like, ‘well, he doesn't eat food so if we don't have liquid nutrition, he'll starve to death, please help me.’ I felt pushed to my limits. In the USA it is just so different to here in the UK. We had a team of medical specialist supporting Tristan including mental health support, psychological care, it would have been there all the way through his growing up.”
The family now see Dr Dias who is based at Birmingham Children’s Hospital and she has made a huge difference in their lives today. “We drive all the way up to Birmingham to see Dr Dias because she's so amazing. We met her when we did a research study she was doing with the University of Birmingham. Her knowledge of Russell-Silver syndrome and the way she interacted with me were amazing. She understood trust, she listened to what I was saying about my views and my beliefs on how Tristan should be treated. She's been just so phenomenal, having that support is so, so essential. She is an endocrinologist but she treats the whole child, she has been involved with his education, mental health, and support for the family.”
Dr Dias at Birmingham Children’s Hospital has been a great help to the family
The care he received as a child, and before finding Dr Dias, was traumatic and has had long-term effects on his mental health. “When he was young, he got sick quite a lot and needed hospitalization. The medical staff in those days just had no understanding of mental health. Tristan was forced to have some awful medical procedures done. I can't even repeat some of it because it's so traumatic. He suffers with medical trauma plus there has been no psychological care provided for his living with Russell-Silver syndrome, none about the acceptance of being different. When he really hit rock bottom, he still didn't qualify for CAMH support. I mean, it's just horrendous.”
Tristan had a great primary school that understood his needs and provided a Blue Smile play therapist that helped. But on reaching secondary school it stopped. “When he moved up schools, he absolutely crumbled. His therapist has worked with him privately because they don't do it in secondary school, she's just been amazing with him. He goes to her practice space once a week, and honestly, within a couple of weeks of working with her, he started to turn it around. It's so prevalent in the news and society about mental health but it is not improving at all, especially for children.”
With Tristan’s RSS and mental health, he has difficulty controlling his behaviours, his fight or flight response is heightened. “His behaviours have changed as he's grown up and he's in a support unit at school for SEMH. He often leaves lessons. His trauma is often misdiagnosed as ADHD because the symptoms are so similar. He struggles to concentrate; he gets very hyperactive and gets distracted easily. He's always twitching and moving, he can't keep still, and he can't relax. In secondary school, it’s become a really big problem because teachers often stand at the front and teach, I keep saying to give him something to do because if he's doodling or moving, he's listening. He can't just sit and listen. He must be doing something at the same time.”
When his fight or flight kicks in he tends to run rather than escalate his behaviour. The school support him by porovidng a safe space, and will contact Celia to reach out. “As he's got older, he's got a lot better, he used to hurt himself and other people. He seems to be able to reel it in a bit more. He's always been a runner. He tends to go for the flight first response. If he feels he can't escape, he will then go into fight mode, but most of the time, most people will let him go into flight. The support room are really good with contacting me when he goes into crisis. When he does blow, he'll really blow and then comes the profuse apologies of ‘you know I really love you, Mum, I'm so sorry’. That's hard sometimes as well.
As a mother, you'll always love your child. It's unconditional love and you need to be there at their weakest moment.”
Celia knows Tristan’s triggers, she controls as much as she can to minimize them, within reason “I try not to change plans in the day and make sure he knows where he's going, when it's happening, what's going to happen, and then he can cope better. Everything must be phrased in a way that suggest he's making a controlled and valued choice. For example, ‘if you don't clean your teeth, then you will have a plaque build-up’ creates an active choice, you couldn't just say ‘go clean your teeth’.”
When Tristan’s fight or flight kicks in he tends to run rather than escalate his behaviour
There isn’t a lot of support in place for the family outside of Tristan’s care and school. Unique Feet has provided a great space for them to go and spend time with others that completely understand the difficulties of raising children with rare conditions. “Unique Feet is about one of the few things where we'll go out and do something because I know everyone going won't expect anything from him or us. I don't have to justify anything; you don't get the same amount of bad stares and judgment that comes from society. The families at Unique Feet are great people to talk to and all have very interesting and different stories. We get to meet up and at least once a month, there's generally something going on where you can relax a bit more.”
There are a lot of unknowns in Tristan’s future and how his life will turn out. “I just don't know what adulthood will look like, and that's the thing with this rare disease. There are not many old people with RSS. So I don't know what happens. I don't think anyone does. I've got a feeling he's never going to live independently. But there's always hope isn't there?”
For now, Celia and the family take it day by day and encourage and support Tristan. His love of cricket and sport has helped him “Tristan is just always raising the bar, so we're still trying to support him, but his life is pretty messy with his mental health, although his sport does help him. He got into cricket and it’s the one sport he could deal with mentally. He's worked very hard at it and become good. And although he is technically disabled, he's been selected into the MCC foundation hub to play cricket, which is one below county level. He absolutely loves it. Cricket gives him enough of a challenge that he can still self-regulate. We were lucky and found a good cricket club, they accepted Tristan as Tristan, with no judgements. It also reinforces to Tristan that you can do anything if you want to.”
FIND OUT MORE
Birmingham Children's Hospital
This city centre-based children's hospital is a leading UK specialist paediatric centre, offering expert care to more than 90,000 children and young people from across the country every year.
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Source: https://www.bwc.nhs.uk/birmingham-childrens-hospital
Cambridge Rare Disease Network
Cambridge Rare Disease Network is a platform for change. It is the infrastructure that unites patients, advocates, experts and leaders to address the challenges faced by people affected by rare diseases. By sharing knowledge and experience, and working together, the journey towards better diagnosis, treatment and support for patients and their families is smoother and more certain.
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Source: https://www.camraredisease.org
UNIQUE FEET
Unique Feet brings together kids and families who understand each other’s shared challenges and difficulties but who also know how important it is to celebrate their achievements.
Often that understanding enables the UF ‘gang’ to raise one another up to help achieve hopes and dreams that might be so much more difficult to achieve alone.
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Read the Impact Report and hear from families about what this community means to them here.
Child Growth Foundation
Child Growth Foundation (CGF) makes a difference wherever growth is a concern.
They are the leading UK charity focusing on the support, understanding and management of rare growth conditions to improve the lives of children, adults and families affected.
To find out more about Child Growth Foundation (CGF) and how they can support you, click here.
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