Georgia is four and a half years old. She is physically and mentally delayed and she has been since she was born so her parents have been playing catch-up ever since. She has different therapies including speech therapy, physiotherapy, play therapy and occupational therapy to try and help her to achieve her full potential. Other problems include unusual eyes – specialists have only seen one other child in the world that’s similar and even then they are not the same. Georgia’s kidneys don’t work properly and she has unusual differences in her brain development. As well as global developmental delay, she also has verbal dyspraxia so she has difficulty speaking. She can’t control her oral motor so she can’t make speech sounds. Even though she knows what she wants to say she can’t which is very frustrating for her.
Georgia is happy, confident, carefree, animal loving, very sociable and a people person. If anyone is prepared to give Georgia the time of day or give her attention she loves them and will be so happy to share with anybody.
Where it all started
A little bit after Georgia was born doctors thought there might be something wrong because when checking the vital signs, Georgia’s head circumference was a tiny bit larger than it should have been. They thought she might have water on the brain. They took her away at that point for testing to try and work out what was wrong but came back and couldn’t find water on the brain and tried testing her for a few other things and couldn’t see a problem. This meant that at a couple of hours old we were left with our child to go away and see if she developed normally – to go home and just see what happened. But they looked very concerned at the initial stage and kept asking me if I’d had all of my pre-natal tests and I kept thinking ‘yes, why are you asking me this? What are you suggesting? That this baby shouldn’t have been born, that we should have known that there was something wrong? I could see that they were concerned there was a problem but we didn’t know straight away so we had to go home and see what happened. It was probably about at about three months when I noticed that Georgia wasn’t developing the same way as other children her age and it was quite clear that she was falling behind. That’s when we realised that she had developmental delay.
The impact of finding out and having an undiagnosed child
It was really hard. I felt very alone and isolated. Being a new mum is difficult anyway but when you’re told that your child is disabled it was especially hard. I desperately wanted them to tell me why and what was wrong so I could start to come to terms with it and deal with it. I found it very difficult to move on in the journey because there was definitely something wrong but we didn’t know what it was. Georgia was being tested for numerous different conditions, many of which are incredibly scary, life-limiting syndromes or conditions so you go through a journey every few month of doctors saying oh it might be this and you go through a whole emotional roller coaster. Then it wouldn’t be that condition so you’d feel relief initially and then disappointment that you hadn’t progressed any further and didn’t have a diagnosis. I still desperately wanted to find someone else in the same situation to share and get support and I didn’t have that in the early days when I hadn’t heard of SWAN UK. I felt very isolated and thought how can we be the only ones. I didn’t know what the future would hold and was told early on it could be life limiting and they didn’t know if she would grow and that was really hard. For the first year I felt constantly terrified, didn’t get a lot of sleep, cried a lot and felt stuck in this no man’s land of uncertainty. They started to find and diagnose different problems she was having but it was all very hit and miss. It was very hard because she was in hospital and very poorly and she wasn’t getting the right treatment.
The importance of getting a diagnosis
Georgia is our first child and we always thought we’d have more children but without having a diagnosis we didn’t know if it was an inherited condition or not and that put us in limbo. I was getting older and we wanted to move on and have another baby but with the chance as high as one in four we didn’t feel we could risk it so everything was put on hold with our family. This made getting a diagnosis even more time pressured. The 100,000 Genomes Project was our last chance. We also wanted a diagnosis even if it didn’t change anything medically for her treatment. I still wanted to know why and have a prognosis.
Your journey to the 100,000 Genomes Project
It wasn’t an easy journey and I never sat back and relaxed. I always wanted to know what we could do to find a diagnosis and was constantly pushing for answers. I didn’t realised you couldn’t know – that it was even possible to be undiagnosed and for so long. Georgia had been tested for a lot of different conditions and they had all came back negative. We first got put on two genetic studies – a study into rare eye disorders and the Deciphering Developmental Disorders (DDD) which we were on for nearly three years and nothing came back for us. I heard about the 100,000 Genomes Project from SWAN UK members at the pilot stage.
Getting a diagnosis
After 11 months on the project we got a call to say they’d found the gene. I was blown away. I didn’t think it would come in time but it did. They found a rare gene change in Georgia and know that this is significant because they’ve already found two other children straight away on the study that have KDM5b and neuro-developmental problems. We were really excited to find out that it is not inherited. This was a bonus because the chances of recurrence are very low. It’s been a long journey but worth it in the end. Georgia still has a syndrome without a name. We have a gene name but her condition is so rare that it doesn’t have a name. I hope that now that the 100,000 Genomes Project will be able to reach more people and that they will feel less alone and they’ll be able to start their journey to diagnosis and not feel like I did in the beginning.
Is anything different now you’ve got a diagnosis?
Nothing changes in terms of appointments but if we can connect with other families and learn about the problems that they have, it may help signpost and give a clearer prognosis for Georgia. Hopefully we’ll get to the stage where we have more warning of what Georgia may be susceptible to. At the moment we only find out as and when we stumble across the problems. Hopefully we’ll be forewarned of thing that might come up in the future. Just knowing an answer and being able to help Georgia as best we can is good enough for me.
I found SWAN UK when Georgia was one. It was an enormous relief and really changed how I felt about everything. Before, I felt alone, thinking how did this only happen to us. I felt isolated and really upset all the time. I felt like I couldn’t cope. As soon as I found SWAN UK nothing changed for Georgia and her condition but I realised I wasn’t alone; there were other people going through what I was going through and it really gave me strength because even if I didn’t post or comment, just reading what other people were commenting and sharing in the community made me feel like if they could do it, I could do it. Even though others have different conditions there are a lot of things that are the same – lots of things we struggle with – it could be delayed speech or feeding issues, low muscle tone, mobility, sleeping issues. You could share all this and it was a great comfort. Georgia still has a syndrome without a name. We have a gene name but her condition is so rare that it doesn’t have a name. We’re not suddenly part of a big support group where I can go. That will never be the case. I now lean on SWAN UK less than I used to but now I like being there for other people and was keen to share our story to give other people hope that they can achieve that and there is light at the end of the tunnel. No other charities are doing what SWAN UK does and offering that support. There’s nowhere else to go for them and it’s not a small number of families – around 6,000 children born every year are undiagnosed. Georgia will always be my swan. She’s a very unique little lady whether she now has those few letters or numbers confirmed or not.