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In June 2016, Gemma and Gavin learnt their daughter Milly has Koolen-De Vries Syndrome.  With not a lot of information available about this little-known syndrome, they ended up trawling the internet for what they could find. 

Unique was a resource that they came across that helped them to digest the diagnosis. Unique had also recently held a KDVS Study Day in the UK with Dr Koolen present which meant they could read the information first hand and deepen their knowledge. 

Unique is the leading charity providing specialist information and support to families coming to terms with a diagnosis and the medical professionals caring for them. This is how they help:

• their listening ear help service is the first point of contact for parents & professionals, giving the support they need
• their unique information project has produced over 200 accessible information guides to specific chromosome disorders, helping parents & professionals to understand
• their specialist database is used daily by professionals, helping them care for their patients
• their family matching service, links those living with similar conditions, helping them realise they are not alone
• study days and other events bring together families and professionals to develop our knowledge

New technology means many more children than ever before are being diagnosed. In the last year alone more than 1,500 parents approached Unique for help, straining their limited resources. 

We want to support Unique because by doing so means we are supporting other parents in the same position as us. 

Thank you for caring about children affected by rare chromosome disorders

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