One family whose battle with a rare disease that affects a number of them, has welcomed a consultation on the draft Northern Ireland Rare Disease Implementation Plan. The plan, proposed by the Health Minister, Jim Wells, sets out a framework to support continued action and new developments to see how they provide services for people with rare diseases over the next six years.

One such disease is Huntington’s which affects a number of families.

A member of a family from Enniskillen has seen members of her family battle with Huntington’s Disease, a neuro-degenerative genetic disorder that affects muscle co-ordination over a number of years. From a family of 10, she has seen her father and a sister, who were both diagnosed with the disease, die at relatively young ages and another sister has to leave her job because of the complications of her diagnosis.

While she has not been diagnosed, she says she and other family members have to live with the condition as it affects their siblings.

“Some of us who are hesitant in having the tests are living in hope. There are quite a few people with the disease which is rare. It is quite taboo for many to talk about it and a lot of people suffer in silence.

“It’s a devastating disease for the whole family,” she said.

While there is no cure for Huntington’s, there are quite a few developments to lessen the impact of the disease on sufferers.

Those families suspected of carrying the faulty gene, cannot have the test until the age of 18 but symptoms do not usually occur until a person is in their thirties or forties.

She has watched family members cope with the disease, usually with muscle spasms and become fatigured as they expend a lot of energy.

The aim nowadays to is get young people from affected families to deal with the situation and then to manage it.

Huntington’s Disease is caused by a mutation of one single gene, the Huntingtin gene. Every human has a Huntingtin gene, but it is only those who have been tested positive for the gene mutation that will develop the disease. It is a genetic disease and therefore hereditary, meaning that it can be passed down from one generation to the next. Children of those with Huntington’s Disease have a 50/50 chance of inheriting the illness.

In Huntington’s Disease, the gene mutation leads to an imbalance in the brain which cause damage to the neurons in the brain. Subsequently leading to impaired physical ability, mental functioning and emotional. It causes muscle spasms and often a lack of co-ordination and unsteady gait.

The Huntington’s Disease Association in Northern Ireland organises a number of support groups throughout the Province including one in Omagh to facilitate families in Fermanagh and Tyrone.

These offer the kind of emotional support and expertise that only comes from people experiencing similar situations.

A spokesman for the Association said: “HD can cause significant turmoil within the family and this can be very difficult to deal with and often leaves people feeling isolated. The support groups offer people a moment of respite in a warm and welcoming environment and offer a chance to talk about issues facing the families or even to just a catch up over a cuppa.

“Primary issue for us at the minute in terms of lobbying is that we need additional HD special nurses in the community - at present there is one nurse with more than 120 cases, some involving whole families, this is more than double the caseload recommended among comparable services in Scotland. The effect of this is that the nurse is unable to deliver adequate care to all of the, extremely complex patient groups and when this nurse is on leave or sick there is no cover. A key role of the nurse is to provide emotional support and practical advice as well as a liaison point to ensure a co-ordinated care approach from all of the required health and social care services e.g.GP, psychology, speech and language, nutritionists, occupational therapists, social workers, respite carers.” The Health Minister, Jim Wells, who has revealed a family connection to a rare disease, retinitis pigmentosa, an inherited degenerative eye disease, said everyone with a rare disease had a right to expect the best treatment and care that the Health Service could provide. He also urged people who were impacted by rare such as patients, carers, family members or medical professionals to complete the consultation and shape the future of rare disease care. He said to 100,000 people in Northern Ireland were impacted by rare disease.

A rare disease is defined as affecting five or fewer people in every 10,000 but the term covers more than 6,000 diseases.

The consultation closes on January 19 2015 and can be accessed on the website; http://www.dhsspsni.gov.uk.showconsultations?txtid=74325 For more updates, photographs and debate follow The Impartial Reporter on Facebook: http://www.facebook.com/impartialreporter And on Twitter: http://www.twitter.com/impartialrep