Welcome to the genetic disorders database

When my first son was born he appeared to be perfectly healthy. 12 hours later a nurse told me that she thought there was something wrong with him. Then, for the next 13 months, we went in and out of A&E, GP surgeries, the clinics of NHS specialists and private specialists. Finally, by hook and by crook we found our way to a consultant at Great Ormond Street Hospital for Children who diagnosed my son's genetic disorder...

» Read Caroline's full letter

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A personal message from Caroline Harding, GDUK's Chief Executive

Caroline Harding with her son

When my first son was born he appeared to be perfectly healthy. 12 hours later a nurse told me that she thought there was something wrong with him. Then, for the next 13 months, we went in and out of A&E, GP surgeries, the clinics of NHS specialists and private specialists. Finally, by hook and by crook we found our way to a consultant at Great Ormond Street Hospital for Children who diagnosed my son's genetic disorder.

During all this time, I had been spending hours, days, weeks on the internet trying to find out what was wrong with my baby. I was hoping to put together the pieces of the puzzle that no-one else seemed to have the time or interest in doing. When his nose started to smell badly, I searched for 'my baby's nose smells badly, dreadful smell from baby's nose', when his teeth came through very differently to other babies, I searched for 'baby has triangle shaped teeth, baby with pointy teeth'. When my son was finally diagnosed, I found that the medical terms that I should have been searching for on the internet were 'foul nasal discharge' and 'peg-shaped teeth'. These were terms that I, as a regular mum, was never going to think of putting in Google.

There are many genetic disorder databases on the internet that are full of information about a disorder once you know what its name is. We do not want to replicate these excellent sources of information.

The aim of this database is to combine the words and terms that patients and carers use about disorders with the words and terms that medical experts use in order to facilitate the diagnosis of a genetic disorder. We want this database to be completed by the parents who know what it is they saw that was different in their baby, their toddler or their child. In the case of genetic disorders that only manifest in adulthood, we want to know in the words of these individuals or their carers what symptoms they experienced that told them something was not right.

To make an entry on this database, you DO NOT need to be able to complete all the questions. The idea is that by combining the knowledge of patients, carers and medical experts we can create a database that will help everyone more quickly diagnose a genetic disorder when it is present. When you have a sick baby, child or adult, a diagnosis can never come quickly enough. For some it can make the difference between life and death.

Thank you for your help with this project.

Caroline Harding
Co-Founder of Genetic Disorders UK

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