Amanda Walburn-Green - Georgia’s Story
Our story began in June 2011 as my husband and I were excitedly preparing for the arrival of our first child. I had a smooth pregnancy with no issues but soon after Georgia was born the doctors told me what no parent wants to hear, that there might be a problem.
They started testing and looking for answers, and I was terrified to hear what they were going to say.
What I was totally unprepared for is that there would be no answers. At first I thought we would be waiting days for tests to reveal what was wrong, but our search for answers didn’t last days or months. It was four and a half years before we got a diagnosis for our daughter.
To some that might sound strange and I too never realised a child could be undiagnosed until it happened to us. To not be diagnosed doesn't mean the condition isn't serious, for many life is incredibly hard and for some life is even cut short. Undiagnosed just means the doctors can't find the causative gene. No diagnosis means no prognosis, no clear future, no more children without risk, no moving on and coming to terms with it, because what are we coming to terms with!
Why isn’t she doing what all the other babies can do? Will she walk? Will she talk? Will she have a normal life expectancy? I had so many questions, but without a diagnosis there were no answers. I was just told to go home and watch and wait and see if she developed abnormally. Slowly over time Georgia showed us what her difficulties are which include incurable abnormalities with her kidneys, eyes and brain. She has global developmental delay, and this means at four years old she is just about taking unaided steps and is yet to say her first words.
Georgia’s problems are so rare and varied that she has six specialists consultants working across four different hospitals: Great Ormond street for Genetics, Moorfields for eyes, Southampton for Neurology, Nephrology and Orthopaedics and Basingstoke for her Paediatrician, physio and orthotics. Information sharing between these hospitals is archaic, paper based and unbelievably slow. No one has a complete picture of Georgia and her condition other than me. I have become her PA and General Manager, coordinating the medical team that work with her. I chase results and brief every consultant at the start of each appointment because it takes weeks for letters to move from hospital to hospital or worse letters fail to arrive at all. Even within the same hospital trust it is not possible to view her scans, operation notes or consultant's letters on the same system. I quickly had to become clued up on Georgia’s complex medical needs to be able to brief each of her consultants. I was the only option if I wanted to be sure information was shared, they had the up to date picture, connections were made and nothing was missed.
Over the first three and half years of life numerous tests, scans and genetic studies failed to deliver us any results. It was then in November 2014 that we were recruited to the pilot stage of a new cutting edge genetic testing programme called the 100,000 Genomes Project. I realised this was our best hope of getting a diagnosis for Georgia. The answer had to lie somewhere in her genes and this was the first time they had been able to map the whole human genome.
We were incredibly excited but Great Ormond Street warned us the results could take years to materialise. This was the very start of the project and they didn’t know if they would even be able to interpret all of the information they were now able to gather.
In fact it only took a year from recruiting us to finding that all important answer. We finally knew why, and we also found out that the condition wasn’t inherited. These incredible medical scientists found a rare mutation on one half of one single gene in Georgia that they believed was responsible for her problems, but they could only be sure if they could corroborate this finding.
We were incredibly lucky that they quickly found two other children with the same gene change and similar problems. The science is one thing, but it has to be verified by finding others. The power of this project is making those connection. Georgia’s diagnosis has immediately led to two other children getting a diagnosis, and there must be more out there. It is imperative now that this knowledge is shared as widely and as quickly as possible, so it becomes a matter of course for any child who presents with neuro developmental problems to be tested for this gene change.
To know we are no longer alone feels incredible and we would desperately like to connect with these other families. We have asked for our information to be shared with them, but there is as yet no system or process set up to make this happen so I’m not sure if our request has even been passed on.
Around 7,000 new babies are born every year in the UK with an undiagnosed genetic condition. Living a life without answers, without a prognosis and no clear treatment is not easy.
The 100,000 genomes project will help provide answers, and the dissemination of this new knowledge and data throughout the NHS is essential to make sure we are reaching and diagnosing as many children as possible, as quickly as possible
If this testing had been available at birth, we wouldn’t have gone through four long years of uncertainty. Georgia would have had better treatment and a clearer prognosis from the start. We wouldn’t have had multiple hospital admissions without knowing it was her kidneys causing a problem. She wouldn’t have spent the first year of her life not being able to see properly before it was figured out she had a severe eyesight problem. She also wouldn’t have cost the NHS a small fortune on umpteen rounds of genetic tests, diagnostic scans and two other genetic research studies. In short, her life would have been better, easier and a lots less painful.
Georgia's progress remains slow, but steady, but we get there with a gruelling schedule of physio, speech therapy, cajoling, blood, sweat and tears. Her development is delayed but she is making progress and for this I am so massively thankful.
One in three children with a serious genetic condition die in childhood, so everyday is precious and every bit of progress, no matter how tiny, is a momentous step.
In Georgia’s short lifetime medical science has advanced to enable whole genome testing to be possible and available on the NHS. Whilst this knowledge may not change the way Georgia is treated today, it offers hope that gene therapy may well be available at some point in the future to help Georgia in ways her current therapy and medication just can’t reach. This is an exciting thought but for now getting a diagnosis means so much, we finally know more about our special little girl and hopefully just before I’m too old we have the opportunity to try for a little brother or sister for Georgia.
Finally some words of praise for my daughter:
I'm not sure Georgia's knows she is different but if she does she certainly doesn't care. She is confident and carefree, kind and caring, she loves people and loves animals even more, she is determined and cheeky and, despite the fact she can't talk, she manages to wrap everyone around her little finger to get just what she wants.
She has taught me so much in her short time. I take little for granted anymore, and I am more patient and more resilient than I ever believed was possible. We celebrate and appreciate even the little things and she has shown me what true determination looks like. Georgia has given me a more rounded appreciation of what life is all about. I am most definitely a better person with her, than I was without.
No Georgia isn't the daughter I was expecting - she is so much more.