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Understanding the bigger picture: The story of a SWAN UK Information Day and how I came to realise where we fit in

Last Reviewed 21/12/2018

By swan uk parent rep for portsmouth - [email protected]

On a particularly cold February morning in 2018 I attended a SWAN UK information day at Southampton Science Park. I didn’t know what to expect and to be honest despite having been a member for a while, I still wasn’t sure whether we ‘qualified’ as part of the SWAN UK community, and if I really ought to be there.

See, my child has a condition that’s undiagnosed, but on the surface she’s not particularly complex. She doesn’t have seizures (that we can find evidence of)! She can talk, although she struggles to communicate a huge range of things. She can walk, but not far or fast, and she falls quite often. She isn’t tube fed, she doesn’t have any obvious difficulties with chewing or swallowing, but she does have allergies, really struggles with mixed textures, and has an extremely limited diet. She’s bright, she can read as well as any other child in her reception class, but she has no awareness of being hungry, or thirsty, or needing the toilet, so she needs a lot of support with personal care.

She wasn’t born with any particular difficulties, she was fine, until suddenly at around 15 months she wasn’t.

She can learn things, but she can also regress, so we never quite know how she will be from day-to-day. She maybe doesn’t fit a description of complex needs in the traditional sense, but she’s a sum of her parts and the way those intertwine make her quite complex, for those of us who really know her.

Despite my misgivings about whether I belonged there on that day, we were, and still are part of the 100,000 Genomes Project and above all else I wanted to understand more about it. So there I was in a room at the Science Park, and slowly the room filled with parents, and professionals and members of the SWAN UK team.

I sat and I listened, I listened to Jayne Spink talk about Genetic Alliance UK, who they are, and what they do. I listened to Lauren talk about SWAN UK. I listened to Claudia, a SWAN UK Parent Rep, tell us about her son Trent and felt my eyes fill with tears, because I knew, and Claudia knew, and every other parent in that room knew, what it was like to have an undiagnosed child and the unexpected, unpredictable and often quite isolating journey that takes you on. And at that point I started to think well maybe this is where we do fit in after all. Because although the symptoms are different, and the history is different, and the needs are different, we do have a lot in common and understand each other’s experiences.

Dr Catherine Mercer talked about how genetics was an important part of diagnosis and explained how genetics had helped her understand and treat families with rare genetic heart conditions. She also explained how genomes are sequenced and why it’s such a lengthy process to get to diagnosis, if indeed you do get there.

Dr Frank Ratcliff spoke about genomes and exomes and how complex they are, and how what we are learning now from sequencing genomes is going to change the face of medicine as we know it. His description was clear and easy to follow.

He compared genomics to the Industrial Revolution, and hey, who doesn’t want to be part of a revolution!

By the end of the session I felt I had learned so much. I understood how our small undiagnosed story was part of something so much bigger.

Being the parent of an undiagnosed child is hard, it’s frustrating, it’s downright heart-breaking at times, but on that February morning, I learned something else.

I learned how exciting the scientific world we had become part of was. I knew how to explain to others what it meant when I told them my child was undiagnosed and I could explain to them about this fascinating field of genomics and how we now understand so much more about rare diseases than we ever could, but we’ve still only just touched the surface.

I came away with several things that day. I came away with a knowledge that empowered me as a parent, that gave me a new-found confidence to be able to be an even better advocate for my child, because I could explain her lack of diagnosis in a meaningful way. I came away with the stories from other parents that showed me that even though symptoms and disabilities may vary, we all had shared experiences of the challenges of being a parent to a child who had a syndrome without a name.

I also came away with a desire to ensure that more people in the area I live in had access to this kind of information, the parents who may feel empowered, and the professionals who with a more detailed understanding might be better able to support families where the child has no diagnosis. That’s not a criticism of professionals in any way. I spent 10 years working in special education and never gave a thought to what it might mean to a child or their family to be undiagnosed, because generally we don’t. We concentrate less on the diagnosis and more on the child and meeting their needs in the moment and across a school year. But we learn and we grow, and I can see the benefits being a special needs teacher who understands what it means to a family when a child is undiagnosed. So that day I spoke to Lauren and told her I wanted to become more involved with SWAN UK. It took a little while, because these things do, but now here I am, an empowered parent, an enlightened professional, and a SWAN UK Parent Rep.

EMAIL ME: [email protected]

TO FIND OUT ABOUT OUR OTHER PARET REPS VISIT: UNDIAGNOSED.ORG.UK/OUR-TEAM

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