A Mullingar husband and wife are pleading for assistance as they seek to obtain access to a very expensive drug that could help her in her battle against an extremely rare condition.
By Paul O’Donovan
Charlotte Connolly, from Lynn Heights, Mullingar, suffers from a rare disease called systemic Degos disease, from which only 50 people are known to suffer from worldwide at the moment.
There is no known cure for systemic Degos disease at the moment, however, six cases of the disease have been treated with a drug called Soliris, and of the six cases, improvements in the patients have been recorded in three of those patients.
The main problem though is that the drug Soliris costs approximately €430,000 per year. That is a phenonemal cost for anyone, one that Charlotte and her husband, Declan, quite simply cannot afford.
“At the end of the day we are sandwiched between a drug company and the HSE in terms of cost, that is really the hub of the issue at the moment,” said a clearly worried Declan. “I can understand why the HSE don’t want to pay that kind of money, but I don’t think you can put a price on someone’s health,” said Declan.
“We have had no other option, we just had to go public at this stage,” said Declan. In his efforts to gain support and heighten awareness of their desperate situation, Declan has set up a Facebook page entitled the ‘Charlotte Connolly Trust’. He has also gained local political support from his good friend Cllr. Ken Glynn and from local TD Robert Troy. Indeed Robert Troy is expected to raise the issue of the cost of the drug in the Dáil later this week.
SYMPTOMS BECAME WORSE
The problems began for Charlotte back in February 2011. “I first noticed numbness in my left foot. It felt like a nail going up through my foot. Then it spread. I contacted my GP and was then referred to Dr. Fallon at Mullingar Hospital. From there Dr Fallon referred me to Dr. Siobhain Hutchinson who is now my neurologist. At first it was thought I had multiple sclerosis and that was the theory they worked on at first.”
Charlotte then had a number of MRIs and lumbar punctures. Lesions were found in the brain and along the spine, but it was still thought to be consistent with MS. The symptoms then became worse as the numbness gradually spread through both legs. By May 2014, Charlotte, who is just 47 years of age, could not walk without the aid of crutches.
Her appetite was drifting and over the course of the previous year she had lost quite a bit of weight. At this stage the doctors felt MS was not the cause, but now the condition was a mystery. Charlotte was placed on steroids and platelet changing medication.
SHOCKED WHEN
CONDITION DIAGNOSED
Unfortunately nothing was working and the numbness progressed from her toes to below her bottom. Charlotte went into hospital before Christmas 2014 and underwent a brain biopsy.
In February of 2015, Dr. Hutchinson asked Professor Barnes (dermatology) to look at Charlotte’s psoriasis. During the examination Professor Barnes noticed something unusual on Charlotte’s skin in the form of small white spots and biopsies were carried out on these spots in a number of locations. A number of nerves were taken out from Charlotte’s foot as lesions were noticed there. Samples were sent away for analysis and systemic Degos disease was discovered. “We were shocked when we read the diagnosis and read about the condition,” said Charlotte.
EXTREMELY RARE
Charlotte’s case of Systemic Degos Disease is the only case of it in Ireland. It is extremely rare worldwide with between 150-200 cases reported in medical literature since it was first discovered in the early 1940s. There are approximately just 50 cases of this disease in the world at the moment. Unfortunately there is a high mortality rate of 70% between 3 to 15 years from diagnosis for those who suffer from the disease.
At present there is no known cure for the disease. A group in America have treated approximately six patients with Soliris. This drug is used in AHUS and PNH but this is a slightly different disease in that they are blood disorders and Degos is a blood vessel disease, where the vessels ultimately break down where there is an incident.
Of the six cases, there has been one fatality where the patient was introduced to the drug too late, two patients have shown marginal improvement and three are doing quite well, but it must be stressed that this is a an experimental drug, so there are no guarantees.
Over the course of the year since Charlotte was diagnosed with Degos, she has undergone a number of MRIs to monitor the spread of the disease. She has also had a colonoscopy and endoscopy to determine if the disease was in the stomach and gut, which it is. This is particularly dangerous as the majority of fatalities occur from the disease reaching the gut area.
Dr Hutchinson brought his findings of the Group in the US to St James’ Hospital, but St James’ felt that they could not treat the problem due to the high cost of €430,000 per patient per year and the fact that the drug is off-licence and highly experimental.
Not surprisingly this led Declan to say, “It is unacceptable to put a cost on someone’s life in my opinion. We will appeal that decision. It is now time to go public with this and it is extremely urgent now,” pleaded Declan. “We have launched an online petition to have Minister Leo Vardakar approve the expenditure. It is Charlotte’s only hope.”
SINCERE THANKS FOR SUPPORT
Since Charlotte has been diagonised with systemic Degos, Declan has become her full time carer and Declan and their son Dylan, would like to express their sincere thanks to a number of people who have assisted them greatly during that time.
“We would like to thank our neighbours, friends and family for the great comfort and support they have provided. We would also like to thank Cllr. Ken Glynn and Robert Troy TD for their hard work to progress the case in the public eye. To Doctor Fagan and his staff, to the community nurses, physios, an ancillary staff in the Springfield Centre, Mullingar and all the medical personnel in the Regional Hospital, Mullingar, we would also like to say a sincere thanks to them all. Not forgetting Dr Siobhain Hutchinson who has been steadfast in her resolve to help Charlotte, and who will continue to do so. Finally, we want to thank the entire community of Charlotte’s home town of Mullingar and those further afield, for their thoughts, prayers and supports over the past few days.
“We have decided we are going to fight this all the way and we will do everything we can to overcome this problem,” said a defiant and determined Declan.
For those who wish to sign the petition click onto change.org and search for Charlotte Connolly.
