Charlotte hoping department will OK €430,000 medicine for devastating illness

 

 

 

By Eilís Ryan

 

The husband of a Mullingar woman diagnosed with a disease so rare that only around 200 cases have ever been diagnosed is pleading with the government to provide her with medicine that doctors believe can help.

Charlotte Connolly, from Lynn Heights, has been diagnosed with the two forms of Degos Disease – both the benign version, which affects the skin, and the far more serious systemic version, which affects her internal organs.

The only drug that they believe can offer some hope for Charlotte is Soliris (Eculiuzab) – but to date, says husband Declan, St James’s Hospital and the Health Service Executive have not given the go ahead to allow Charlotte access this potentially life-saving drug, due to the cost.

“It is expensive: it costs €430,000 a year,” says Declan, who gave up work a year ago to become full-time carer for 47-year-old Charlotte.

“Soliris is used in a couple of different diseases, and it is an approved drug in those cases,” says Declan.

However, he adds, it is not yet approved for the treatment of Degos Disease.

Despite that, in the US, Soliris has been used to treat around six patients who have the condition, and enquiries by Charlotte’s consultant have found that in three of those cases, the patients have seen an improvement in their health. The results were somewhat more “hit and miss” with two other patients, and the sixth patient, unfortunately, did not survive the condition.

A statement on behalf of St James’s Hospital, said that while it does not comment on individual patient cases, it  can confirm that application was made for use of specific drugs for the treatment of potentially life-threatening diseases in more than one case in 2015.

“Any novel therapy, particularly if ‘off-licence’ must be evaluated for potential efficacy and possible side-effects before being recommended,” the statement said.

It continued: “ 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 the evidence provided by the treating consultant prior to taking a decision based on that evaluation. 

“At times, that evaluation recommends against using such therapy, despite  the treating clinician’s hope that it might be effective, as the evidence is not supportive of those hopes.

“Due to lack of scientific validation, coupled with prohibitive yearly costs, it is sometimes concluded that the prescription of certain drugs cannot be justified and the recommendation to the Hospital is against funding such prescription.”

There is a high mortality rate associated with Systemic Degos Disease.

Declan, who has launched an online petition to have Health Minister Leo Vardakar approve the expenditure, states that there is some urgency about the situation.

“[Charlotte] was diagnosed in February of last year, but had the symptoms for three years before that.

“Even getting a diagnosis was difficult because it is so rare that no one knew what they were looking at so I would give full credit to the team in charge of Charlotte at St James’s, especially Dr Siobhán Hutchinson, her consultant,” says Declan, recalling that in the initial stages, Charlotte’s first real symptom was that from time to time, her foot would go numb.

Since the disease struck, Charlotte has been left disabled – quite a dramatic turnaround for someone who, four years ago, did the women’s mini-marathon.

Within a year of doing the mini-marathon, Charlotte was on crutches.

“It’s difficult to put it into words,” says Declan.

“From the top of her legs to her toes, she has no feeling: her nerves are affected.”

Charlotte formerly worked as a merchandiser at Dunnes Stores, but has had to give up her job.

“The impact has been a total sea change for us,” says Declan, who admits that they are disappointed that approval for Charlotte to receive Soliris has not been given.

“We never wanted to go down this road, or to go public. We would have dealt with this as it came to us,” he says.

“I understand hospital budgets are stretched, but I don’t think costs should come into it.”

The two are resolute in their determination to beat the disease.

“Charlotte is a tough girl, a strong person, very strong-willed, and we decided we’re going to fight this thing.

“It’s a blow but it’s something we’re going to fight and we’ll go to the ends of the earth to do it.”

 

• To sign the Connollys’ petition, go to: change.org and search for 'Charlotte Connolly’.