Some hope is better than no hope. That was the message of Charlotte and Declan Connolly from Mullingar who are appealing to Health Minister Leo Varadkar to greenlight a trial of a drug which doctors believe can save save her life.
Charlotte is the only sufferer of Degos Disease in Ireland. As she and husband Declan revealed to Anton this morning, she is one of only 40 people worldwide to suffer from the rare condition. Just 200 cases have ever been reported since the 1940’s.
She and husband Declan are battling to receive a life saving drug called Soliris (Eculiuzab), which has been recommended to her in her fight against the very rare disease but the HSE and St James Hospital say the medicine is ‘off licence’, not tested and the cost – estimated at €400,000 – is too prohibitive.
As the couple starkly outlines, there is a high mortality rate (70%) with Systemic Degos Disease, a disease of the small blood vessels.
The issue of the potentially life-saving drug was raised in Dail Éireann but the Connolly’s were not happy with the reply that Health Minister Leo Varadkar gave to Deputy Robert Troy. They are asking Minister Varakar to re-think and let them trial the drug. Clinical trials normally use about 100 patrients, but as there are only 40 people in thew world with Degos Disease, these sort of trials may never happen.
Soliris has been used to treat six Degos patients in USA. In three cases, the patients have seen an improvement in their health. Results more “hit and miss” with other patients with one passing away.
Charlotte was diagnosed in February 2015, but had the symptoms for three years. She says it first felt like the sensation you get after walking on a nail – a prick to the heel that just wouldn’t go away. She ran a Mini Marathon and got on with her life.
Getting a diagnosis was difficult because it is so rare. At first they thought it was MS, but after loads of tests and trials it became obvious it was something else entirely.
Charlotte now walks without feeling, with the aid of crutches. She says she “cannot feel the ground beneath my feet”.
She says “everybody deserves the right to a treatment, costs shouldn’t come into it.”
The Connolly’s have set up a change.org petition to call on the Health Minister and Taoiseach to provide them with the medicine, even under the Compassionate Drugs Access Scheme. There is also a FACEBOOK page devoted to their appeal.
