Serious concerns | 

How people diagnosed with rare illnesses face nightmare ordeal in Ireland

Lack of specialist facilities for people diagnosed with Huntington’s Disease in Ireland makes situation even tougher
Ralph Riegel

People diagnosed with rare illnesses including Huntington's Disease face a nightmare ordeal through the lack of specialist clinics in Ireland and the inability of the healthcare system to offer personal treatment and care plans.

Following serious concerns about the inadequate care received by several patients, the Government has now been urged by Irish and UK health campaigners to create a specialist national clinic for the care of people with Huntington’s Disease.

Monday is World Rare Diseases Day.

Huntington's Disease (HD) is a rare genetic condition that slowly attacks the brain.

There are over 700 people in Ireland now battling this disease - and some 400 who know they have the gene that causes it and will become ill at some time.

A further 3000 are living with a genetic risk.

Families of those affected warned it was a shocking indictment of Ireland that it is still without a specialist national clinic to help the most vulnerable people battling this rare disease.

HD patients have an average life expectancy of 10-25 years following diagnosis.

The illness slowly changes a person's motor functionality, cognitive ability and emotional well-being and it ultimately ends in death.

Many experience mental illness as a symptom.

But it is particularly cruel because it has a 50pc chance of being inherited by the patient's children.

HD is commonly referred to as one of the world's cruellest family diseases.

Ireland has few consultants with specialist knowledge of the illness.

One of them, Professor Orla Hardiman, has been advocating for the creation of a designated national HD service to allow specialist treatment and multi-disciplinary care for patients.

Huntington's Disease Association of Ireland (HDAI) officials met with Mental Health Minister Mary Butler and representatives of the Department of Disability earlier this month to urge them to address the dearth of services.

HDAI members warned that delayed diagnosis and misdiagnosis remains a major problem given the severity of HD and prevents at risk family members from making informed choices around family planning and other important decisions.

"Given the complexity of the disease various health professionals are required. Neurologists typically diagnose HD and assist in monitoring physical changes. Neuropsychologists assist in supporting people to adapt to cognitive changes.

"Mental health professionals including psychiatrists, psychologists and counsellors are necessary in supporting a person to manage their psychiatric symptoms. Social workers, occupational therapists, speech and language therapists, physiotherapists, dieticians and other allied health professionals are also required.

"Co-ordinated involvement from all of these personnel is key to improving quality of life for the person living with HD and  family carers,” one HDAI member said.

HDAI Chairperson Thomas Lillis said the waiting list for screening was far too long.

"Crumlin is the only genetics department in Ireland who facilitates genetic testing for at risk family members and the wait for this is nine to twelve months."

"The absence of a specialist service and patient-centered supports places a huge burden on families over generations. Ireland offers no follow up support for the family members of those who are diagnosed despite them having a high genetic risk of the disease. People who undergo predictive genetic testing and receive a positive genetic test result are left to deal with their harsh reality without support.”

Former Scottish Huntington's Disease Association chief executive, John Eden, warned that it was "a sobering experience" to see how patients were treated in Ireland compared to other European countries.

"Ireland and Scotland have a roughly similar sized population and mix of urban and rural areas but care for people with Huntington’s disease could not be more different," Mr Eden added,

"In Scotland support is predicated on multi-disciplinary support, delivered by ten regional teams, each with a clinical lead, specialist nurse, specialist youth worker and financial advisor and each linked to a wider network of agencies designed to provide care from diagnosis until the end of life for the roughly one thousand people who have HD in Scotland."

He said the situation facing Irish patients was far worse.

"Access to genetic testing is woeful with a nine-month waiting list for an initial appointment, there are no specialist nurses and just a small group of clinicians at Beaumont Hospital who, though committed, have been given no resources to care for HD affected families.

"Bloomfield Hospital is the one shining exception, providing long-term care to twenty- four people, but that represents just two percent of everyone in Ireland with HD.

"Bloomfield cannot help the vast majority of people with the condition who live at home.

"In addition to the lack of specialist support, people with HD face enormous barriers accessing general services. They are frequently rejected by mental health services on the mistaken basis their condition has an organic cause and when they do get access care is often inappropriate or inadequate because of a lack of understanding of the condition.

"Families face daily battles to get access to care at home services and carers who often provide support twenty-four hours a day, seven days a week are given little in the way of practical, emotional, or financial support or respite care.

"The consequences of the absence of appropriate care for one of the most vulnerable groups of people in Irish society have been catastrophic for some families."

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