Tilly’s “tried on” lots of diagnoses, but none fit her mystery ultra-rare condition

Tilly's "tried on" lots of diagnoses, but none fit her mystery ultra-rare condition

Happy Undiagnosed Children's Day! Did you know that around 6,000 children are born in the UK each year with a syndrome without a name – a genetic condition so rare that it is often impossible to diagnose.

SWAN UK (syndromes without a name) is the only dedicated support network available for families of children and young adults with undiagnosed genetic conditions in the UK. It is run by the charity Genetic Alliance UK. If you'd like to find out more about what we do and how we can support families, visit the Swan UK website or you can join us on our Facebook page.

Today, I'd like to introduce you to Tilly, who is almost two years old and who has an undiagnosed condition. Her mum, Kizzy, has kindly shared their story with us this Undiagnosed Children's Day, to tell us what having a condition so rare it doesn't have a name means for their family.

Undiagnosed Children's Day

Our undiagnosed life with Tilly

Our family includes Tilly who is 23 months old, me and Myles, Tilly's dad. Tilly is bright and bubbly, funny and sweet. She loves drawing and watching The Wiggles and spotting cats in the garden. She loves being around people and dancing.

Tilly has two main issues at the moment. Firstly she has a rash that comes and goes, leaving scars and covering her whole body. It also creates lumps under the skin. At the moment she only has an active rash on her feet, which are very lumpy. We aren't sure if they are painful at the moment but I suspect they are, especially when she is walking. She also has some strength/mobility issues. She can walk reasonably well but struggles with transition movements (she can't stand from sitting and while she now manages to crawl a small distance she struggles to pull herself up). It is very unclear at the moment whether this is related to the rash or something else. And it is unclear whether it is clinically significant or not.

The rash is more significant for us than for Tilly. She doesn't yet notice it and thankfully it doesn't itch. For her, the movement issues can get quite frustrating as there are lots of things she would like to be able to do that she can't. When around other children, she often tries to get to a toy but takes so long that someone else has got there first and run off with it. It also means that she's not massively independent as she needs help to stand and sit and if things are beyond reach she needs help getting them back.

Her rash first appeared when she was 10 months old. We went to the doctor a few times and then on day three we were referred to Accident & Emergency. At A&E we saw junior doctors, consultants, specialists and eventually a professor, as no one could figure out what the rash was. The professor told us then and there that the rash would be gone within 4-7 days, but that we would have an immediate referral to have her lumps biopsied. At that stage we were worried that many she have cancer.

From the very beginning, doctors were interested in looking at Tilly's rash and would always call other doctors to come and look during our appointments. I remember about six weeks after Tilly's rash first appeared that our GP said doctors would be writing papers on Tilly’s condition for many years.

I always felt there was something not right with her movement. When other babies were moving round – either crawling or bum shuffling, or pulling up on anything they could reach and cruising round the house, Tilly was just sitting – no additional movement at all. It never felt right to me, but it has taken a long time to get doctors to acknowledge that it's not as it should be.

Kizzy & Tilly
Kizzy & Tilly

Trying to manage the unknown

Having a child with an undiagnosed condition is very tiring. There is a constant stream of medications, appointments, questions and constant test results which you both hope and fear will give you an answer. It’s hard managing the unknown, not knowing what the future brings and having to accept having no control. I’ve always been a control freak and planner, and I’ve had to throw all that out the window.

Diagnoses that I used to fear I would now welcome. When this first happened, Tilly was (wrongly) diagnosed with Lupus. I remember being so upset at the time. But as time has gone on and as I have started to realise what all the options actually are, I would take Lupus as a diagnoses a hundred times over and be glad for it. I think when you don't know, you end up considering all possibilities and some of them are really scary. Also, as Tilly gets older I have begun to accept that this is part of who she is and I no longer have the desire to change it.

It's clear we are in the very rare category so in some ways a diagnosis would be nice so we could stop the searching. However, some of the diagnoses that are a possibility have 50 people in the world affected, so I'm not sure that having a diagnosis will really tell us much.

The part that’s really hard is the constant ‘trying on’ of diagnoses. Every hospital appointment seems to bring a new set of possibilities and a new possible future. There are endless options about what the illness could be and so endless versions of what the future could look like. Learning about each illness and trying to work out if that could be the one is really tiring. However, I feel positive about the future. With support from others with SWAN children and the love and support of my family and friends we can get through anything.

The help from SWAN UK

I found SWAN UK through a good friend of mine who also has a child with an undiagnosed genetic condition. I remember hearing lots about SWAN UK when their journey started and she recommended I join. We’re going to London Zoo next month with SWAN UK and I’m really excited to meet other members and to be part of the community.

When we started our journey, more than anything I just wanted other parents to talk to who knew what I was going through. People who could tell me what to expect and that it would be alright and we would get through it. But there wasn’t anywhere for us to go. We couldn’t join most charities or groups because we didn’t have a diagnosis.

Everyone at SWAN UK is different and dealing with their own journey, but we all share the emotional strain of having a child who is medically unique – continuous tests which come back with no answers, second guessing, Google searching and uncertainty about the future. Knowing there are other families out there who are in the same situation makes a world of difference. We have a support network. We don’t feel alone anymore.

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Miriam Ingram
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Miriam Ingram

Digital Communications and Support Officer at SWAN UK
My role with SWAN UK involves raising awareness of our work and undiagnosed genetic conditions and I work closely with families to communicate their experiences as well as acting as the first point of contact for enquiries. I also enjoy organising events for SWAN UK families and managing SWAN UK’s social media accounts.
I have a background in journalism, marketing and events and am passionate about giving people a voice and a platform to tell their stories.
Miriam Ingram
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  • Stephanie

    I came across the Swan UK site by chance and have just read Tilly’s story, What a beauiful
    little girl, and I can only imagine how hard it must be for her Mum and Dad not having a diagnosis. My daughter, who is now 41, was diagnosed with joint hyper mobility not very long ago, as was the granddaughter of a good friend of mine. A few of he physical problems Tilly’s Mum mentioned sounded familiar. Feel sure the NHS will have checked for this condition, but thought it was worth mentioning. Good luck.