Husband in funds plea as wife only Irish person with ailment

A Mullingar man has appealed to the Government to fund an experimental treatment for his wife with one of the world’s most expensive drugs in order to save her life.

Declan Connolly’s wife Charlotte is believed to be the only person in Ireland diagnosed with Degos disease, a rare blood vessel condition. Fewer than 200 cases have been reported since it was discovered in the 1940s.

There is no known cure for Degos disease, and Ms Connolly has the more serious systemic version, which affects the internal organs and has a high mortality rate.

However, a handful of patients in the US have been treated on an experimental basis with the drug eculizumab, known commercially as Soliris, and the condition of some has improved.

Soliris, which costs up to €430,000 per patient annually, hit the headlines last year when Minister of Health Leo Varadkar and the HSE bowed to patient pressure and approved the drug to treat patients with two unrelated blood diseases.

This was in spite of the HSE saying the cost was exorbitant and Mr Varadkar accusing the manufacturer, Alexion Pharmaceuticals, of aggressive pricing.

Soliris is not licensed for the treating Degos disease but such off-licence use of a drug is not unknown, when approved by doctors treating the patient.

Ms Connolly began to suffer numbness in her lower body, loss of weight and poor appetite four years ago. Doctors initially thought she had multiple sclerosis but this was ruled out after tests. Eventually, her neurologist, Dr Siobhan Hutchinson in St James’s Hospital, diagnosed the disease.

Inflamed

Degos is a disease of the blood vessels in which cells in the linings of the walls of the small veins and arteries under the skin swell when they become inflamed. This causes restricted blood flow. In some cases, blood vessels in the gut, central nervous system or eyes are affected, and skin lesions appear.

Ms Connolly’s illness has had a devastating impact on the family as she has been forced to give up work and her husband has gone part-time to mind her.

“She’s weak all the time, with no feeling from the top of her hip to her toes. She needs crutches and can’t be left on her own,” says Mr Connolly. He speaks highly of the efforts made for his wife by Dr Hutchinson, who contacted the US researchers using Soliris and has advocated within the hospital for its use on Ms Connolly.

However, St James's rejected this application. In a letter to the family, clinical director Dr Patrick Plunkett said the use of Soliris to treat Degos was "significantly experimental and definitively 'off-licence'."

He described the cost as prohibitive and said it would adversely affect the ability of the hospital to care for other patients. “What published evidence there is, is far from convincing that there would be a major positive impact on the patient and is, at best, a form of temporising therapy.”

Dr Plunkett said it was unlikely the HSE would be prepared to fund the drug directly and described the advocacy for Ms Connolly as “based more on hope than on real scientific justification”.

Intervention

Mr Connolly said the decision goes against the ethos of healthcare by allowing cost considerations to outweigh the necessity to provide what could be a lifesaving intervention. In effect, the hospital was putting a price on his wife’s life.

Attempts to contact Dr Hutchinson by email prompted a response from the hospital’s public relations advisers. They said any novel therapy, particularly if off-licence, must be evaluated for potential efficacy and possible side effects.

“This is particularly so when the disease is rare, with little published evidence to support such novel use.”

The hospital relies on professional evaluation of evidence and at time this evaluation recommends against using a therapy, despite the treating clinician’s hope that it might be effective, St James’s said.