UCD2021: Jenny’s story

Hi! We are Jenny and Pete with our three children, Charlotte, Izzy and Thomas.

This is Izzy who is the same age as SWAN UK – 10 – and until last summer was one of 6,000+ children each year who are born with an undiagnosed condition – and even more, now diagnosed like Izzy, with an ultra-rare genetic condition.

It was a very long road to diagnosis – more than nine years of searching for answers, lots of tests and appointments with medical professionals who often had exhausted all options available, lots and lots of waiting for results and not knowing when and what you might hear back.

Then out of the blue, one cloudy afternoon last June in the midst of the Covid-19 lockdown, my phone rang – it was a ‘withheld number’ which, in our house, means it is the NHS. I jumped off a work call to answer it (if you have never tried returning a call to the NHS, believe me, just answer the phone in the first place)! To my surprise it was a genetic consultant on the phone and we hadn’t had an appointment in five years as there was nothing more they could do. I just knew immediately that this meant there was big news. No news comes in the post – only big news comes on the phone.

I pulled Pete off his work call and we spent the next 20 minutes learning about the long-awaited diagnosis that the amazing geneticists had discovered.

We learnt that Izzy has Baker-Smith Syndrome, so rare that she was the 10th in the world to be diagnosed – how crazy is that!

It is a random mutation on gene SYT1 that causes learning disabilities, hypotonia, eye disorders, unusual brainwave patterns and more – there were so many similarities with Izzy’s story. The information available is limited as it is so new, but here is the link to what is known.

Bizarrely, however, epilepsy is not a symptom of Baker-Smith Syndrome – making Izzy even more rare and unique.

It is hard to explain how I felt that, at last, we had the answer. On the one hand, there was relief – we could stop searching, it was not hereditary which is always a concern and just knowing there are others with the same diagnosis.

Overwhelmingly the guilt I had carried for 10 years – always wondering if that glass of red wine before I knew I was pregnant was the cause – I could let it go, nothing we could have done would have changed who Izzy is.

On the other hand, very little has changed. There is no prognosis as the science is too new, but hopefully that will come and knowing that we can contribute to the understanding of the condition is such a positive. We do not know what the future holds but we do have a list of symptoms to watch for and have now added some preventative steps. There is no network group yet, but as more are diagnosed we hope this will come.

We joined SWAN UK in 2013 when Izzy was three. Until that point, we had been completely isolated with no support network and nowhere to go and ask questions, or meet others in a similar position. The early years were really tough and SWAN UK became a lifeline to us.

The Facebook group has been a ‘go to’ throughout and has gone from strength to strength as the group has grown. The font of all knowledge – other SWAN UK parents – have helped us so much over the years as we have faced seizures, challenges accessing therapies, battling the system to get into the right school, and managing a host of medical and cognitive difficulties for which there is no parenting manual. Even more importantly at times has been sharing some of the milestones that others do not understand in the same way, learning to hold a spoon, being invited to a birthday party or finding a medication that helps after a lot of trial and error. The SWAN UK group are always there to share in the joys as well as the tougher times.

Our favourite aspect of SWAN UK has been the events that we have attended. Theme parks, Christmas parties and group visits to the farm have proven incredible opportunities not just for us as parents to meet others, but for Izzy to socialise and for Charlotte and Thomas to meet other siblings who also lead the life of young carers. More than anything we have made friends who we know will be by our sides for life and who share our undiagnosed and rare world.

As we celebrate Undiagnosed Children’s Day 2021, we will also be celebrating SWAN UK’s 10th birthday this year and for us as a family we will celebrate all that SWAN UK has given to us. Izzy may now also be a Zebra – the symbol for rare disease, but once a swan always a swan – and our undiagnosed family remains a source of strength and connection for us all. 

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