Violet who has a rare chromosome disorder

Chromosome Disorder Awareness Week

13th June 2017

It’s Chromosome Disorder Awareness Week so My Family, Our Needs is shining the spotlight on Unique – The Rare Chromosome Disorder Support Group. It is a UK-based charity who offers specialist information, emotional support and networking for families affected by chromosome disorders and the professionals who are working with and caring for them.

How many people are affected by rare chromosome disorders?

Individually, chromosome disorders are incredibly rare but collectively they are much more common.  In fact, at least one in every 200 babies is born with a chromosome disorder, many with severe learning and physical disabilities.  Many babies have symptoms from birth or early childhood, whilst others only find out they are affected when they grow up and try to have babies of their own, experiencing issues such as multiple miscarriages, fertility problems, stillbirth or the birth of a disabled child. Some of these chromosome disorders are so rare that they are actually unique.

Getting a chromosome disorder diagnosis

Getting a diagnosis of a chromosome disorder for your child can be a deeply painful, overwhelming and isolating experience. Families’ worlds are turned upside down.  A lot of the time, doctors don’t know what the future holds for the child which can be incredibly scary.  As a parent, you want answers and that’s where Unique comes in; it understands chromosome disorders and can provide the much-needed support and information.

As far as I have found, Unique is the ONLY source of any significance in the entire world. Hats off to you, for providing light where no one else is.

Most parents’ first reaction following their child’s diagnosis, quite understandably, is to ’find’ another, older child with the same (or at least a similar) disorder as their child. While this might be possible for some, it still does not mean that the two children will develop in the same way. However, just talking to other parents of a child with a chromosome disorder can be a great relief and can help to alleviate feelings of isolation and ’why me?’ We connect families and through our introductions some incredibly strong friendships have been made.

Thank you to Unique for introducing me to three of the most amazing women and their families I could ever wish to have in my life.

Information on chromosome disorders

Technology used for diagnosing chromosome disorders has advanced rapidly over recent years and has been rolled out across the NHS.  It is now possible for smaller and more complex chromosome defects to be identified and the number of families being provided with a diagnosis has really increased.  Unique supports over 15,500 affected families.

Unique has an extensive database which contains detailed information about chromosome disorders. It is this information that forms the basis of our 200+ family friendly, medically verified, information guides. Our information guides are not only useful to the families living with a chromosome disorder, but they’re also a valuable source of information to the primary health care professionals supporting these families.

Why Chromosome Disorder Awareness Week is important

This week is the fourth Chromosome Disorder Awareness Week. It’s important to shine the light on chromosome disorders and the impact they have upon the children and adults living with a disorder and their families, and the support and information Unique is able to offer. It’s a week to celebrate all the wonderfully unique children in the world and the achievements they make, when so often they’ve been told they won’t hit certain milestones.

My Family, Our Needs will be bringing you a personal story later in the week from one mum raising her daughter who has a chromosome disorder. Make sure you check back here or keep an eye out on our Twitter page so you don’t miss it.

Useful links:

Unique is a charity whose mission is to inform, support and alleviate the isolation of anyone affected by a rare chromosome disorder and to raise public awareness.
Rare Disease UK
RDUK provides a united voice for the rare disease community by capturing the experiences of patients and families.

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