THERE ARE RARE diseases and there are very, very rare diseases.
Degos disease is most definitely the latter. About 50 people worldwide have the condition and fewer than 200 cases have been reported since it was discovered in the 1940s.
Charlotte Connolly is thought to be the only person in Ireland with Degos disease, which is also known as malignant atrophic papulosis.
The condition has two forms: benign cutaneous Degos disease and systemic Degos disease. The former leads to small and medium-sized arteries becoming blocked, restricting the flow of blood to affected areas, and causes skin lesions that can last anything from weeks to years.
The latter is most frequently characterised by internal lesions on organs such as the small intestine. It has a high mortality rate.
Charlotte has this form of the condition. There is no known cure. Her husband Declan believes Eculizumab, a drug known by its commercial name Soliris, could help her.
Some patients in the US have seen improvements in their condition since gaining access to the medication. A major drawback of the drug is its cost: about €430,000 per patient per year.
In 2015, the HSE and then Health Minister Leo Varadkar approved the drug to treat patients with two unrelated blood diseases: paroxysmal nocturnal haemoglobinuria (PNH) and atypical haemolytic uraemic (aHUS).
They failed to secure a price cut from the manufacturer, Alexion Pharma.
Experimental trials
When questioned about the issue in the Dáil in January 2015, Varadkar said: “I am advised that Eculizumab has been used to treat a small number of Degos patients in highly experimental trials in the US.
“The results of these trials have been inconclusive, with some patients showing signs of improvement, some getting worse, and one patient dying while receiving treatment. There is no strong clinical evidence or research to support the use of this medicine for the treatment of Degos disease.”
Declan tells TheJournal.ie he knows the drug’s success is not guaranteed, but views it as Charlotte’s best chance.
“It is experimental, I can’t say it’s not. It has proven to work in some cases. The sooner she goes on to it the better. The fact that she’s not getting any treatment is particularly worrying.
“The fact is there is something there that may help.”
Declan says doctors originally believed Charlotte (47) had multiple sclerosis (MS), due to the nature of her symptoms. After about a year of undergoing various tests, including several MRIs and lumbar punctures, she was diagnosed with Degos disease.
Charlotte was diagnosed at St James’s Hospital in Dublin in February 2015.
Chronic pain
Declan (45) and his son Dylan (18) look after her at their Mullingar home. She needs round-the-clock care.
Charlotte previously worked in Dunnes Stores, but had to give up her job two-and-half years ago. Declan says her movement is “severely restricted” and she is in chronic pain.
He explains: “In Charlotte’s case she has lesions on the brain, the stomach, the gut, on one eye and also on the nerves throughout both of her legs. She has no sense of feeling from the waist down, whatsoever, and this makes it very, very difficult to walk, as she relies on her eyesight to decide where to place her feet.
“She cannot feel the ground under her at all. Due to the fact that the disease has become so prevalent, she needs the use of crutches to help her get around. Her muscles have regressed quite a bit due to lack of use, and she is particularly weak when standing or walking after any great level of time. Also, her balance is very poor.
As Charlotte has the disease on the brain there is an elevated chance that this will lead to minor or major strokes … She would have little chance of fighting off these strokes as her condition deteriorates.
Declan says the fact Charlotte’s stomach and gut are also affected increases her chances of suffering from a bowel perforation (a hole or tear) at some point in the future. This could cause a life-threatening infection.
“Her chances of surviving this incident would not be particularly high.”
Declan has written to Health Minister Simon Harris a number of times to request a meeting. He says he has not received a reply.
Soliris
A spokesperson told the TheJournal.ie the Department of Health does not comment on individual cases. However, in a statement, they noted:
“Soliris is not licensed for the treatment of Degos disease by either the European Medicines Agency (EMA) or the US Food and Drug Administration. A manufacturer may, at any time, submit an application to the EMA to have a medicinal product licenced for a specific indication. If that indication is approved by the EMA, the manufacturer can apply for reimbursement to the HSE.
It is important to note that the Minister for Health does not have a role in the licensing of medicines.
In July of this year, Helen McEntee, Minister of State for Mental Health and Older People, answered questions about Soliris in the Dáil on behalf of Harris.
McEntee noted: “In early 2015 the HSE decided to fund the provision of Soliris for sufferers of two specific conditions for which it had been licensed.
At an individual cost of over €400,000 per patient per year, the drug is expected to cost the HSE approximately €8 million in 2016. Given these substantial costs, the director general of the HSE has put in place formal procedures to ensure each case in which Soliris is used is the subject of clear advance authorisation.
These arrangements would not permit the drug to be used for the treatment of a condition beyond the terms of the marketing authorisation and where evidence of clinical benefit has not been demonstrated.
When discussing extending access to Soliris in 2015, the HSE’s director general Tony O’Brien said paying €430,000 per patient per year for any drug is “astronomical”.
“However, the HSE did not want the patients awaiting access to Eculizumab caught in the crossfire between a drug manufacturer attempting to enhance its corporate profits at all costs, versus the HSE attempting to protect scarce money for delivering health services.”
In a statement, the HSE added:
Demands on the health services continue to grow year-on-year. The opportunity cost of the inordinate price demanded for this important drug will inevitably, over time, be felt in other parts of the health services and will impact on the ability to fund important other services developments such as home-care packages, medicines and drugs, and the recruitment of badly-needed nurses.
“Consequently, the HSE urges the manufacturer concerned to reconsider the price that it charges for Eculizumab in this country.”
Declan says he will continue to highlight Charlotte’s case for as long as it takes.
“The stakes are high for Charlotte, and our family, as we struggle to get the medication for Charlotte that may give her renewed hope to beat this terrible affliction.”
A GoFundMe page to help pay for three months’ medication had raised €5,700 at the time of publication.
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