Illness and isolation

In 2009 Sarah Murphy ventured to Australia on her own, but now she struggles just to get into town. Sarah has been diagnosed with Ehler’s Danlos Syndrome, a condition so rare that most Irish doctors have not heard of it, and there is no treatment here. Yvonne Evans find out how isolating such a condition can be

It had been a long and painful journey before Sarah received a diagnosis. As a child, the Kinsale native complained to her mother about pain in her arms, legs and hands. 

“I couldn’t write for very long in school without my hands and wrists getting sore,” the young woman said.

 When Sarah’s mother brought her to the family GP, she was told it was simply growing pains. 

For years, Sarah has suffered from partial dislocation of her joints, which is excruciatingly painful. 

“I have to pop my hips in around four or five times a day, I couldn’t tell you how many times I have to put my knees back into place and my shoulder pops in and out various times during the night.” 

As the years went on, Sarah’s conditioned worsened, and after numerous visits to her GP and Rheumatologists, Sarah was left clueless. Soon after, she fell into a deep depression. 

“I signed myself into the GF ward in CUH for three nights, the doctors kept saying that what I was experiencing was all in my head, a physical result of my anxiety. Ending it all was the only way out,” the 23 year old said.

In March of this year, Sarah was in the X-Ray department in CUH when she collapsed. She explained her symptoms to the staff in CUH. The condition Ehler’s Danlos Syndrome (EDS) was mentioned for the first time. Just as Sarah thought that she would finally know what was going on, the doctors said that she had just pulled a muscle and that her symptoms didn’t coincide enough with the disease. But she had enough to go on and find things out for herself. 

“In one way I was delighted to finally know what I had, but on the other hand, I was faced with this lifelong illness,” Sarah said. 

Sarah found a rheumatologist in London who deals with this condition. Professor Rodney Grahame runs a hypermobility clinic for people with diseases such as Sarah’s. 

Sarah spent three days and a condsiderable amount of money visiting the specialist only to return to Ireland without treatment as she wasn’t covered by the NHS or HSE. 

“The specialist recommended a physiotherapist in Middlesex who worked with people with my condition. If I go to see a regular physiotherapist who hasn’t tailored a programme for me then they will do more harm than good.”

Prof Grahame gave Sarah a written report to give to her consultant back in Ireland. Unfortunately for Sarah, her doctors here in Cork still did not give the young woman the help she needed. Sarah puts it down to lack of knowledge.

“My consultant in Cork has cancelled my appointments and doesn’t answer my calls. I think that the doctors here don’t know anything about this illness. They make me feel like a nuisance,” Sarah said. 

Recently, Sarah has applied to the HSE to get treatment in the UK but, on the morning this interview was conducted, Sarah found out her request had been denied. 

“I’m really annoyed about this, I feel nobody takes me seriously. If I do not get this treatment soon, my legs are going to give up and I will have to go into a wheelchair. I have ten days to appeal but I know the consultants will not fill out these forms on time.” 

Everyday Sarah is in pain and exhausted. Sarah is allergic to most painkillers and  spends her days putting up with the discomfort of her illness unless it becomes too painful. 

“If the pain becomes too bad to handle, South Doc will come to me in the middle of the night and give me an injection of Difene. It’s the only thing I can have,” the frustrated young woman said. 

Despite feeling left down by the authorities, Sarah has great family support. 

“My parents are amazing. They do everything they can for me. If I have walked into town and can’t make it home because I’m too tired or in pain they will organise a lift home for me.” 

EDS is genetic. It is believed that the disease comes from Sarah’s maternal side of the family as there have been signs of it, spongey soft skin being one of the classic symptoms. Sarah’s brother is also showing signs of the disease. 

Sarah worries that if she ever has children that they will be faced with the same gruelling pain and exhaustion. 

“I love children, if I do ever have a family I will relocate to England where they can be treated from an early age. People who get treated early can have a fairly normal life,” Sarah said. 

Sarah has reached a dead end in her native land and is now considering moving to England to receive treatment under the NHS.

Kathy Tynan, of the Genetic and Rare Diseases Organisation said: 

“Sarah’s long journey diagnosis is a common story among those affected by a rare disease. The other common issue with this story illustrates how easy it is to become isolated. Even if the doctors don’t believe you or understand what you have, it can be very hard to find the practical and emotional support you need to face the rest of the world.”

David Rea, a spokesperson for the EDS Support Group said that even though there is no treatment here in Ireland, the organisation does have a medical advisory panel for those with EDS. The panel includes specialist rheumatologists from all over the world.

For more information about Ehler Danlos Syndrome or about other rare diseases in Ireland go to www. grdo.ie. or call the EDS Support Group on 01-8460570.