Only person in Ireland suffering from rare vein disease: 'We have yet to hear from Health Minister...all I'm asking for is a chance'
The only person in Ireland suffering from a rare vein and artery disease has asked Health Minister Simon Harris to "walk in her shoes".
Charlotte Connolly, from Mullingar, Co Westmeath, suffers from the rare Degos Disease which affects the lining of veins and arteries, resulting in vessel blockage.
Charlotte is believed to be the only known case of Degos Disease in Ireland, with only 50 cases in the world altogether.
She was diagnosed by dermatologist Dr Barnes in St James' Hospital, Dublin last year.
Charlotte has tried for the last year to get a trial for the drug Soliris which costs €430,000 a year, but has been unable to gain access to the medication.
The drug, which is recommended by top US doctor Lee Shapiro, is manufactured by Alexion Pharmaceuticals in Blanchardstown, Dublin and bottled in Athlone only 30 minutes away from Charlotte's home.
The three-month trial that Charlotte is seeking costs €120,000, but she said that she has had no luck with the HSE or the government in getting an opportunity to try the drug.
"The HSE keep fobbing us off and pass us on to the government and the government pass us back to the HSE. You get excited when you think something is going to change but we keep going around in circles and hitting the same point. It's very disappointing," the 48-year-old told Independent.ie.
Charlotte noticed the symptoms of the disease for the first time four years ago.
She described the initial numbness she felt in her legs was as if she had "stood on a nail" and described how it soon spread up her legs. She now uses crutches and needs a full-time carer.
Charlotte, who once worked as a merchandiser for Dunnes Stores, was forced to give up her job due to the "constant pain" of her condition which has a high mortality rate.
"From the moment I get up in the morning until I go to bed at night, I'm in constant pain. I wake up in the middle of the night with pain or if I'm sitting down my legs jump up because the nerves are jumping."
Charlotte's husband, Declan, and her family and friends set up the Charlotte Connolly Trust and marched from Mullingar to the Dáil in June 2017 where they were greeted by TDs and Senators, none of whom included the Minister for Health.
"Simon Harris was at a meeting on the day of the march. He hasn't been in contact with us. I'd like to ask him would he like to walk in my shoes for a day and go through the pain that I go through," said Charlotte.
Declan, who has been married to Charlotte for 21 years and have one 19-year-old son together, is Charlotte's carer.
He juggles this responsibility with working two days a week as a merchandiser for Dunnes Stores.
He hoped that the march would highlight Charlotte's situation and the situations of all those suffering from rare diseases in Ireland.
"People with rare diseases in Ireland are left in limbo. We are frustrated, we've been lobbying politicians and getting nowhere," added Declan.
The Charlotte Connolly Trust has raised €45,000 so far in its attempt to get a drug trial for Charlotte.
"It's a long way off the amount of money we need but we're not going to give up. All we're asking for is a three month trial. I'm positive Charlotte should be given the chance to try this drug," said Declan.
People Before Profit TD for Dublin Mid-West, Gino Kenny, brought up Charlotte's case in the Dáil last week and marched with Declan from Lucan to Leinster House on the day of the march.
He thinks its "ludicrous" that Charlotte isn't being given a chance to try the drug. He also doesn't understand how it is so expensive considering it is made in the "Taoiseach's own constituency."
"Drug companies need to be compassionate. It's immoral that she's not being given access to a drug that is made in Dublin and it could give her a new lease of life. It's not the first case of exuberant drug prices and it won't be the last," said the Dublin TD.
Longford-Westmeath Fianna Fáil TD, Robert Troy, has called on the government to implement their rare disease policy and show compassion.
"This lady is the only person in Ireland with the disease and we have a responsibility to ensure efforts are made to save her life but it has fallen on deaf ears so far," said Mr Troy, who also took part in the protest march for Charlotte.
"Painkillers only numb the pain," Charlotte adds and says that her condition is "getting worse."
She wants the chance to try the drug that could save her or prolong her life.
"All I'm asking for is a chance to go on the drug. If it doesn't work, it doesn't work and I'll get on with it," she said.
You can help contribute to the Charlotte Connolly Trust by visiting her GoFundMe Page.