"Everything is a fight because Sadie doesn't have a named condition."

Posted by
Vicky Hewlett
Posted on
10:05am, 24th April
photo of Sadie

Sadie (age 4) is a SWAN (Syndromes Without A Name) child which means she doesn’t have a diagnosis. Whilst to many people, Sadie looks like a healthy, happy four-year-old, she has a range of extremely complex health conditions. We caught up with her mum, Lucy to find out more about the impact of having a child without a diagnosis and an invisible, lifelong, incurable illness:

We caught up with Sadie's mum, Lucy to find out more about the challenges of having a child without a diagnosis and how her Roald Dahl Nurse, Anna helps.

Tell us about Sadie: “Sadie has gut dysmotility which means that her gut doesn’t work properly and she is dependent on feeds through a gastrostomy tube. She has problems with her blood sugars and has hyper mobility, which affects her joints and makes it more difficult for her to walk. She also has a severe form of eczema called ichthyosis and she is currently undergoing diagnostic tests for behavioural issues at Great Ormond Street Hospital. If you were to look at Sadie, she looks fine but she’s under at least eight specialist health professionals including immunology, genetics, two gastroenterologists, dermatology, neurology, metabolic and her local paediatrician.”

 “Sadie has been seeing specialists since she was eight-weeks-old. Initially, she was seen at her local hospital in Harlow and then transferred to Addenbrookes in Cambridge but they sent her back to Harlow as they couldn’t work out what was wrong with her. She was then moved to Evelina London Children's Hospital and we lived there for three months. She was fed through a line into her heart as she couldn’t tolerate any feeding at that point. She has probably spent a third to a half of her life in hospital. It’s been incredibly difficult to navigate the large numbers of health professionals that we have had to see as when you meet someone new, they look at Sadie on the outside and see she looks alright apart from the rucksack she carries with her feeding equipment. They don’t see the bigger picture and every time, I have to explain about all the medicines she has to take.”

photo of Sadie

“Despite her medical situation, Sadie has the best imagination you could ever think of and the biggest personality. Nothing really phases her with medical stuff. She sees she’s different to other children and wants to do what they can do. She wants to do PE but can’t go out to play as much as she gets fatigued. She’s the most determined person I know but everything is stacked against her.”

What impact has having a SWAN child had on you and your family? “The impact has been massive. The fact that Sadie has an invisible illness is the hardest thing. It’s even hard to explain to friends and family and I feel judged all the time. She has a disabled badge but people accuse me of there being nothing wrong and eventually you start to question whether her condition is as serious as it is. As a paediatric nurse myself, I’ve found that particularly difficult. That’s the hardest thing because people can’t understand the severity of it. For example, Sadie was at a child’s birthday party recently and was having a lovely time but 24 hours later, she was in a high dependency unit and had to have lines put into her groin so they could get all the medication she needed into her. They think it was just a virus or common cold that caused it. I end up being worried that I’m being too paranoid or that I should be more paranoid.”

“Simple things like finding a school to take Sadie have been extremely difficult. She needs one-to-one support but because she doesn’t have a diagnosis, it was really hard to get. We had to fight unbelievably hard. We even had to move her brother out of his school as that mainstream school refused to take her. Everything is a fight because she doesn’t have a named condition. Sometimes the medical professionals question why I’m so desperate to get a diagnosis but it affects everything.”

photo of Sadie

“We’ve had to change our lives a lot. I end up having to let people down at the last minute, which people don’t understand and then you don’t get invited any more. We can’t go out for dinner as people don’t know how to look after her. They would need to be trained to understand her condition, so we just don’t ask. Sadie gets massive anxiety so we can’t go to the cinema or watch a show as she will have a meltdown and people think she’s just being naughty so I have to explain that she has additional needs. It’s really stressful. You can’t just give people a book to read about Sadie’s condition. We’re desperately waiting for the new genetic programme to come out so there’s a chance that we might get a diagnosis so we can link to other people in the same situation. We don’t know what her future is – sometimes I think I want to know and other times I don’t.”

“We used to go on holiday a lot before we had Sadie but we haven’t been since we had her. It’s had a massive impact on her brother; we even had to move house as her gut motility is so bad that she can’t get to the toilet in time so we moved to get a downstairs bathroom and we needed a garage downstairs for all her medications and emergency supplies.  We can’t be very far away when she’s at school in case anything happens with her feeding tube. People don’t see all these things because we just get on with it.”

photo of Anna, Roald Dahl SWAN Nurse

How has your Roald Dahl Nurse, Anna, helped you? “We got in contact with our Roald Dahl Nurse, Anna (the world’s first SWAN Nurse) when we were referred to the genetics department at Great Ormond Street Hospital. The Geneticist thought we would benefit from being under a SWAN Nurse as we were having to see so many specialists.”

“Anna is a huge advocate for the whole family, not just for Sadie, she just gets it. She takes the pressure off. Before we were at a complete loss with who to go to, who to trust and where to go. Sadie feels comfy with her, which is huge as Sadie is only comfortable with a select number of people and can only be herself when she is with them. She co-ordinates all the health professionals that Sadie is under as sometimes they don’t take her case as seriously because she doesn’t have a diagnosis. She comes to appointments and gives the specialist an overview of Sadie’s medical history so I don’t have to. People don’t realise how painful it is to have to go through it all again and as soon as she says, “I’m a SWAN Nurse” you get taken more seriously. She writes supporting letters and takes away the self-doubt I have about what Sadie is entitled to. She says, “no, you need this, you’re entitled to this.” It makes it easier for me. It’s huge. I felt before I met Anna that because Sadie doesn’t look unwell that we didn’t fit into the SWAN box but she reassured me that at least half of the children she sees are the same.”

photo of Sadie

“If we didn’t have our Roald Dahl Nurse, I would feel a lot more anxious about being at Great Ormond Street Hospital because I hate meeting new health professionals who often judge our situation as they don’t know it like we do. If there’s anything I’m worried about, I ask Anna and I trust that she will get back to me as she’s never let me down. That’s massive as a lot of other people have let us down. She has never promised something and then not followed through. She’s a constant in our lives. We know she’ll be there for Sadie that that’s a huge reassurance for us and Sadie.”

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