ELEANOR
A black and white image of Eleanor from her photoshoot in 2023 - All photographs by Ceridwen Hughes
Eleanor is 16 and lives with her parents in Cambridge. When she was 5 years old, she was eventually diagnosed with Sotos syndrome. A diagnosis that the family had to fight for. We spoke to mum Tracey about life with Eleanor.
“I developed preeclampsia, so was rushed for an emergency C-section then after she was born I developed post-eclampsia so I was incredibly poorly. Eleanor also stopped breathing when she was delivered and got rushed to intensive care.” At this time Eleanor didn’t raise any red flags despite the fact she had stop breathing at birth. “Her first year was quite traumatic, we were at our GP and hospital with respiratory infections numerous times. Again, she stopped breathing on me once, but we managed to get her breathing and get into the hospital. Even then it was explained as being down to her birth.”
When she was in her toddler years her nursery contacted her parents raising concerns that she wasn’t meeting some of the milestone markers in her infancy. Her parents wanted more answers and testing but were told she would catch up and once again it was put down to her birth and first year of life when she was poorly often. A close family friend is a consultant paediatrician in Newcastle and the family reached out to him for answers. “We were always phoning him, and he would always advise us. We were lucky to have him. There was one incident when Eleanor had an awful meltdown. I knew something was not right. Our friend told us about Sotos syndrome and that Eleanor was fitting into the same pattern, he was sure it was what she had. He advised us to request that she be genetically tested for the syndrome.”
Eleanor smiling at the camera at her photoshoot
Her parents requested the genetic test but the consultant was sure it wasn’t Sotos syndrome and ran all other tests first. They all came back clear before they eventually agreed to arrange an appointment with a genetic counsellor. Eleanor finally got the Sotos syndrome diagnosis on her fourth birthday. The diagnosis was overwhelming for the family to deal with, due to the long ongoing battle to get it in the first place. The family finally had answers but were worried about how life was going to look moving forward. With the diagnosis also came a high risk of kidney and heart issues which are related to the syndrome. “We were sent for routine heart and kidney scans once Sotos syndrome was confirmed. Her kidneys were fine, but they discovered that she had a massive hole in the heart.” It was a whirlwind of a diagnosis from the initial confirmation in September to being taken into Great Ormond Street hospital in November for heart surgery.
Since her initial diagnosis, the family have had to battle for her other diagnosis of ADHD and autism. “Sotos children are on the autistic spectrum, but we had to get a pure diagnosis of autism to actually get her into the school that she's in now because they wouldn't accept just Sotos as a recognised pathway. It's quite frustrating because you put a child that's already struggling through additional tests which raise anxiety levels just so they have the literature that says they're on that spectrum.” The family have to be outspoken and really push to get things in place for Eleanor. It’s always a battle.
Eleanor was diagnosed with Sotos syndrome at the age of four
Eleanor today tends to suffer more with panic attacks. “I think when she was younger, she didn't know she was having those panic attacks and didn’t know how to handle them so that would come out as violent outbursts and they were horrible. An outburst could last anything from half an hour to four hours, it was like a switch had been flicked, it could be quite tiring, and she'd often need restraining. I think that she liked the closeness, she would kick out just so that she felt safe when you were holding her tight. Then she would stop, there would be a pause for another hour or two because she just needed to say sorry but she wouldn’t know why she was sorry. Nowadays she tends to swear and take herself off to her room or there will be times when she will just cry.”
Today’s challenges are so different to when she was younger. Eleanor is a teenager with hormones that are changing her as she matures, on top of this is her syndrome and dealing with all the challenges that life is throwing at her. Moving from childhood into adulthood, taking exams and picking out future colleges. It all influences her mental health and her panic attacks.
In the past CAMHS has helped her deal with her irrational phobias which have made life difficult for the family. Today the family are waiting on a new referral to focus on her mental health and panic attacks moving forward.
Unique Feet has been invaluable for the family in providing a space for Eleanor, nourishing her love of dance and providing the family support. “She just absolutely loves singing and dancing. It is all she wants to do, and it helps her. With COVID we saw her mental health significantly decline. That was when I realized the impact dance has on her. The zoom meetings of the families during this period by Unique Feet were a lifeline at times. The conversation was still often around the challenges that we had, but that supportive network, even over zoom is invaluable.” Support also comes from Sotos syndrome UK plus family and friends. “We're fortunate we found from the outset a few families in the UK who have children with Sotos syndrome. At Easter, it's become a bit of a tradition that we go for a weekend on a Haven site with the kids. We've been doing that for the last seven years. It's really beneficial for us all.”
Eleanor and her mum
The future for Eleanor is unknown. In reality, she is very vulnerable and trusting and would easily be in situations where she can be taken advantage of. One example was in school when she would buy snacks and lunches for other children who feigned friendship with her. Eleanor was just being ‘nice’ yet others were abusing her vulnerability. This is a worry for her parents especially as she gets older and it brings new challenges and people into her life. “You usually look at your children going to university but that won’t happen here. I think we will eventually look at supported living, maybe, but how far into the future do we look? I just try and live every day to the full and sometimes part of me does look that far ahead, but then there's part of me that will just bury my head in the sand and I think we're not quite there yet. I think that our next step in the journey is the transition from secondary school to college then we'll worry about what the step after that is.” College will bring the next challenges to the family as a full-time course in Media that Eleanor wants to study only takes up three working days. The other two days will need to be planned as she cannot be left to her own devices. Her independence isn’t quite there yet.
Of course, these are challenges that the family will face together, one at a time. Her parents work as a team and support Eleanor in all that she does, from navigating her teenage years to the challenges in society that she faces today. “I'll just say that Eleanor is a delight, she has opened up my eyes to the world in a very, very different way. She has made me a better nurse. I mean, she's one special girly.”
FIND OUT MORE
Sotos Syndrome
Sotos syndrome is a form of variable genetic disorder that is characterized by excessive growth both before and after the person is born.
One of the major features of the syndrome is a specific facial appearance that includes a prominent forehead, facial flushing, prominent, narrow jaw, down-slanting eyelid folds, and a head shape resembling an inverted pear. The person's height and head circumference are greater than average for the majority of children affected by the syndrome.
To find out more about Sotos syndrome, click here.
Source: https://www.sotossyndrome.co.uk/
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.
To find out more about Unique Feet and how they can support you, click here.
Read the Impact Report and hear from families about what this community means to them here.
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.
To find out more about Cambridge Rare Disease Network and how they can support you, click here.
Source: https://www.camraredisease.org
CAMHS
CAMHS stands for Child and Adolescent Mental Health Services.
CAMHS is the name for the NHS services that assess and treat young people with emotional, behavioural or mental health difficulties. You might also see CYPMHS used which stands for Children and Young People’s Mental Health Services.
To find out more about CAMHS and how they can support you, click here.
Source: https://www.youngminds.org.uk/young-person/your-guide-to-support/guide-to-camhs
Great Ormond Street Hospital
Great Ormond Street Hospital is a children's hospital located in the Bloomsbury area of the London Borough of Camden, and a part of Great Ormond Street Hospital for Children NHS Foundation Trust.
To find out more about Great Ormond Street Hospital and to learn how you can donate, click here.
Source: https://www.gosh.org
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.
You can read about some of the other people taking part in the Rare Project by clicking here.
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