Family afflicted with rare genetic disorder cries out for state support

By Mary Dennehy

Growing up in Jobstown and now living in Ballyfermot, Sandra Collins (36) lost her mam Pat Carroll in 1992 to a rare genetic disorder called Von Hippel Lindau (VHL).

Passed down through the generations, VHL is an inherited disease that attacks multiple organs through the growth of tumours and, in Sandra’s family, the tumours predominantly attack the brain, kidneys, lower spinal cord and the lungs.

Alongside a number of male and female relatives on her mother’s side, Sandra and her two sisters Joanne and Edel were also diagnosed with the disorder, for which there is no known cure – and in February of this year Joanne sadly passed away at the age of 44.

“Losing Joanne was really tough,” Sandra said.

“When my mam died, Joanne took care of me and Edel, so it was really traumatic going through such a huge loss again.

“My sister Edel, who is 42, is also dying and has tumours on her lungs and brain and is on dialysis three times a week.

“Edel has children of her own and, as it was when my mam passed away nearly 25 years ago, her children have not been offered any type of counselling or support.

“Nothing has changed in terms of the social and emotional support that hospitals should be providing to families with long-term illness or genetic disorders – and that is why we are speaking out now.”

Patients of Tallaght Hospital, Sandra and her family have praised the doctors and nurses who “go above and beyond medically”.

However, she feels that a ‘family care co-ordinator’ needs to be introduced into hospitals nationwide to support families like her own who are regularly visiting hospital – and alongside support, link them in with existing services in the hospital such as counselling, chaplaincy and social and primary health care.

Sandra, who was a PE teacher in Mount Seskin Community College in Jobstown for five years, said: “I am currently tumour-free, but the uncertainty, the loss of so many family members and trying to care for those who are sick is really traumatic.
“This disease is like a ticking time bomb and all of us diagnosed will be affected by it at some stage.

“There is no cure for it, doctors can try to contain it at best and provide a pain-free, quality of life, but we all know that once someone gets sick, they will get sick again and it is just continuous shock after shock, tumour after tumour, operation after operation and lastly, funeral after funeral.”

She added: “Medical staff in a hospital just see a tumour, not the person or the family behind it and we believe that one person should be assigned to the care of families who are trying to cope with long-term illness or genetic disorders.

“There is no emotional or social support and we are asking the HSE to support the introduction of a family care co-ordinator – it would make life a little easier for families and would also benefit the hospital.

“When Joanne died she should have had some peace of mind knowing that there would be supports for her son and husband. However, sadly, there is nothing.

“This type of assigned support is as important as medical care when it comes to families likes ours and we will be campaigning the HSE, local councillors, TDs and Ministers to support this call.”

A spokesperson for Tallaght Hospital said: “We cannot comment on individual cases, but our staff always endeavour to provide the appropriate support services to all families whilst their family member is in our care.

They added: “The hospital offers a chaplaincy and counselling service, and also has social workers working with the different medical teams and, if required, a Clinical Nurse Specialist associated with the team or patient will ensure that the patient has access to other appropriate services.

“Having a family member in hospital can be a very trying time and we are committed to maintaining supports for these families.”

The HSE did not reply to The Echo in time for print.