Man tells of heartbreak as HSE refuses to fund wife's treatment

Eighteen months ago, Mullingar mother of one, Charlotte Connolly was given the life-altering news that she had contracted Degos Disease

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Neither Charlotte or her husband, Declan had ever heard of the condition previously and it transpired that Charlotte was just one of fifty people wordwide lving with the diagnosis with only 200 known cases since Degos Disease was first diagnosed in the 1940s.

 

Here, Declan Connolly takes up the story of Charlotte's journey thus far and the fight her family and friends are waging with the Government for the specialised medication, Soliris, which could give Charlotte a greater change of this horrific and debilitating disease.

 

My wife, Charlotte was diagnosed with an ultra-rare disease in February 2015.

 

We had never heard of the name Degos Disease. But then again, very few people in the World had ever heard of it either. You see, only approximately 50 people worldwide have been told that they have this disease, are living in the world today.

 

Only about 200 cases of the Degos have been chronicled since the disease was first diagnosed back in the 1940s. When we consider that the population of the earth is some 6.5 billion people or thereabouts, it seems quite incredible to think that just 50 people are living in the world with this disease. As far as we are aware, Charlotte is the only sufferer in Ireland. One person on an island of about 6 million people.

 

To say we were shocked and stunned when we heard the diagnosis is an understatement.The fact that we are totally on our own can be utterly overwhelming. Our family is going through a disease that is quite unique but also frightening in its own right.

 

Charlotte's condition is amongst the more severe forms of the disease. So, when we are talking about rare diseases, we don't get much rarer than this.

 

To add to this there appears to be two forms to the disease, a benign version and a systemic version.

 

The benign form manifests itself with small porcelain white lesions on the skin. This is where the small blood vessels in the skin are constricting causing that lesion to appear white. There is little or no oxygen getting into the skin at the point that the skin is affected by the disease.

 

Most sufferers of the disease will only ever thankfully, suffer from this benign form, and other than the spots being unpleasant to have on the skin, life goes on pretty normally.

 

However, the systemic form of the disease is a different story and this, unfortunately, is the form that Charlotte has.

 

The lesions that appear on the skin in the benign form, also appear internally in different organs.

 

This can be hugely problematic, as these lesions constrict the flow of blood in the small blood vessels right throughout the body.

 

In Charlotte's case she has lesions on her brain, in her stomach, in her gut, on one eye and also on the nerves throughout both of her legs.

 

So, how is it affecting Charlotte? Charlotte has no sense of feeling whatsoever from the waist down 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 in time to come. She would have little chance of fighting off these strokes as her condition deteriorates.

 

The disease in the stomach and gut is also problematic, as this is where the majority of fatalities occur with Degos Disease.

 

Having the disease in both the stomach and intestine probably suggests that Charlotte will have a bowel perforation at some point in the future, and her chances of surviving this incident would not be particularly high.

 

Sorry if this seems a little bit heavy, but I wanted to let people know that 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.

 

That medication, Soliris has been used in a number of cases, and has worked for some, yet Charlotte has been denied access due to the cost, and the fact that the treatment is experimental.

 

So not alone that we have to deal with all of the above, we now, due to the inability or unwillingness of the Health System, must fundraise in order to provide Charlotte with this drug, which is very expensive at €430,000 per year, to see if it will aid her fight against Degos Disease.

 

Imagine if this was your wife, mother, daughter, sister or friend? Wouldn't you want them to have at least the chance to survive to enjoy their life?

 

We are not asking for a lot. We are only asking for a chance to beat this disease.

 

We also want to take this opportunity to thank our family, neighbours, friends and our wonderful community for supporting the events that have been organised so far by the Charlotte Connolly Trust.

 

If you would like to donate, in order to give Charlotte a chance at this medication, you can do so at www.gofundme.com/233s564.

 

Please follow Charlotte's continuing story on Facebook www.facebook.com/charlotteconnollytrust/ and on twitter @charlottetrust.