Living with a rare chromosome disorder

The first Rare Chromosome Disorder Awareness Week has launched this week (2-8 June) to help combat the isolation and alienation many families experience living with a rare diagnosis. 

Marion and Robert
Marion Mitchell a family support officer for the rare chromosome disorder charity Unique, with her son Robert

Robert is 20 and has a rare chromosome disorder called idic 15. He has learning difficulties, epilepsy, scoliosis and he is non-verbal. His mum, Marion Mitchell is a family support officer for the rare chromosome disorder charity Unique, which offers support to over 10,500 families in 95 countries.

“Robert was diagnosed when he was a year old,” says Marion. “I joined Unique in the early days and I continue to be amazed at how the group has grown in numbers. “

An estimated 30 per cent of all children diagnosed with significant developmental delay in the UK have a rare chromosome disorder, according to Unique. Rare Chromosome disorders affect at least 1 in every 200 people, making the incidence higher than Down’s Syndrome and Cerebral Palsy combined.  Yet rare chromosome disorders remain relatively unknown.

Rapidly improving genetic testing techniques means that children, who would previously have been labelled with developmental delay, autism or other learning disabilities now have a formal diagnosis. However, as Marion explains: “So little is known or understood about rare chromosome disorders that many families come to Unique distressed, struggling to come to terms with their child’s diagnosis, often feeling isolated and confused.”

Which is why Unique has launched the first Rare Chromosome Disorder Awareness Week 2–8 June to help increase understanding of the challenges of living with a rare disorder. This week Unique families will be telling their communities, doctors, teachers and MPs all about the difficulties they face. They will also be encouraging professionals and parents to get a diagnosis as early as possible, so support is available early on.

Sophie Sainty, Chair of Trustees at Unique, and herself a mother of 12 year old Max who has a rare chromosome disorder, says: “The shock of having a child diagnosed with any disability or disease is devastating. But having a child diagnosed with a rare chromosome disorder, often with no name to it, makes it even more difficult.

Doctors don’t know how the children will be affected; families, neighbours and the public don’t understand it. We are left feeling very, very isolated. We hope Rare Chromosome Disorder Awareness Week will help to spread the word and reach new families who need support.”

To find out more about living with a rare chromosome disorder take a look at the video below. Or to get involved in the first Rare Chromosome Awareness Week visit Unique’s website.

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Rationing for social care hardwired into the Care Act

This week the Queen’s Speech set out the Coalition’s plans for their final year in Government. Today we learnt the details about one of the most critical reforms of the last year – who will be eligible for social care under the new Care Act.

Last month’s passage of the Care Act represents a huge achievement for the Coalition Government.  For the first time, we have a single modern law that governs social care.  It is a truly aspirational piece of legislation – placing the well-being of those using social care at the heart of the Bill.

For Scope – and other members of the Care and Support Alliance – the final question remained – who will be eligible for social care support?  The Care Act represents a huge opportunity to make sure that every disabled and older person who needs social care support can get it, with the introduction of a new ‘national eligibility threshold’.

Today the Government has released details about who will be eligible for social care – and has confirmed that those older and disabled people who are shut out of the social care system will continue to receive little to no social care support.

For Scope, we believe there is a real risk that continuing to ration social care support will fatally undermine the Government’s focus on improving preventative social care.

We know that as local authority budgets are squeezed, the support that disabled people receive to get up, get washed and get out of the house is also being squeezed.

Take the example of Julie-Ann from Crawley in Sussex. Julie-Ann lost her sight three years ago and is deaf. She used to receive four hours of social care support a week that supported her to wash, cook and get out of her house.

She has been deemed no longer eligible for care, and now struggles with tasks around the house and suffers from loneliness.

Specifically, today’s publication confirms that many people unable to get out and about could fall through the net – this could include people who are on the autistic spectrum or who have dementia, a learning disability or a mental health condition.

With the Care Act comes the opportunity to make sure such people are eligible for social care. However, on the basis of the Government’s plans today, we have instead seen existing rationing for social care hardwired into the Act.

We know that sitting behind this rationing is the chronic underfunding of social care. For the Care Act to be truly transformational – ensuring the wellbeing of everyone who uses social care – it must be matched by bold investment.

With increasing numbers of older people and disabled adults needing care, there must be a new consensus on adequately funding social care services. What’s more, there is increasing consensus that doing so could generate real savings across Government.

The Department of Health is holding a final public consultation on the regulations. Scope will be responding to make sure that the details are improved as far as possible to allow disabled people who need social care support are able to receive it.

We encourage you to get involved, making it clear just how important social care support is in allowing disabled people to live their lives.