The 3rd international awareness week for Rare Chromosome Disorders begins on Sunday 12th June 2016. During this week, Unique will help improve understanding of Rare Chromosome and Genomic Disorders and raise awareness of the support and information we can offer to individuals and families living with these disorders.
The diagnosis...
Imagine a scenario where that tiny little human life you created receives an earth shattering diagnosis. The doctors have no information about what it means or how it will affect your little one. Your family is left at the crossroads. You don't know where to go or who to turn to. What help will my child need? How can I get it? Where do I get information? Who can help me and my family? Why me, why us?
It may sound like I'm dramatizing this but sadly, this is what thousands of families experience every day when they receive a diagnosis of a rare chromosome disorder.
At least 1 in 200 babies are born with a rare chromosome disorder; where there is too much genetic material or some is missing or re-arranged. For a lot of families, this can have devastating consequences. Symptoms can start at birth or early childhood, others might be affected later on or when they try to have children of their own - multiple miscarriages, fertility problems, stillbirths or the birth of a disabled child.
Now what?...
It is usually following diagnosis that families need the most help, practical support and information. But where do they find this? The emotional rollercoaster can be a long and lonely journey for most. For a lot of families, after the chaos of the day has settled, they sit down at the computer and start typing away, on a mission to find answers. Hopefully, Unique will be their first stop. Our ever-growing library of free information guides on over 180 disorders can be the first and only trustworthy information source about their child's rare chromosome disorder.
Getting information...
Over the last 30 years, Unique has been collecting information about lots of different rare chromosome and genomic disorders over the lifetime of individuals living with these disorders. This has enabled us and professionals to see what effect these chromosome disorders have on people living with a rare chromosome disorder and their families. With their information and the help of geneticists, we have been able to develop our information guides detailing the effects of the chromosome disorder and what support they would benefit from. This would not be possible without our 14,000 family members.
It's important to highlight also that it is likely that the professionals in the local community - the GP, Social Worker or even hospital specialists - will rarely, if ever have come across anyone with a rare chromosome disorder. This means they quite simply have little or no understanding and are not able to answer the many questions families will have. Families are able to pass on our information guides and educate the professionals supporting their family.
Real people...
"Ellis is a 3 1/2 year old charismatic, sociable little boy who is full of love, joy and so much energy; he also has a sizeable duplication at 17p13.1 His chromosome disorder has significantly impacted his growth and overall development; particularly his expressive language, he uses his emerging Makaton skills, gestures, jargon and intonations of words to communicate. We are new members of Unique and have only just begun to scratch the surface of the support that is provided. Being able to easily access information has helped me to better understand and make sense of Ellis' genetic makeup which has been an important factor in my process of acceptance". A quote from Melanie, Ellis's mummy, a Unique member.
Getting support...
As well getting support from Unique through our email and telephone help lines; thanks to our database, we're often able to link up families on the basis of their rare chromosome disorders. Under the umbrella of Unique membership, families can benefit from mutual support and linking even though the chromosome disorders may be quite different. Some of these families are truly Unique because their chromosome disorder is so rare. Often of more practical benefit is to link families on the basis of problems as they arise, whether these are medical, developmental, behavioural, social, and educational and so on. As funds allow, we hold regular family days, conferences and study days in the UK where families and professionals can meet and discuss latest developments.
The future...
Recent advances in genetic testing means that even smaller changes in DNA can be seen, leading to more people being diagnosed with a rare chromosome disorder. Let me go back to a fact I mentioned earlier: 1 in 200 babies are born with a rare chromosome disorder. When added together, that is a lot, an awful lot. But the rarity of the individual disorders presents a real challenge. By raising awareness of rare chromosome and genomic disorders, we can ensure that people living with these disorders and their families and the professionals supporting them, get the information and support they need and together we can alleviate their isolation.
To find out more about Unique and rare chromosome disorders, please visit our website at www.rarechromo.org and follow us on Twitter @unique_charity.
