An estimated 100 people in Ireland, who suffer from Primary Immunodeficiency Disease, need regular infusions to replace infection-fighting antibodies, writes RONAN McGREEVY
EVERY THREE weeks freelance musician and music producer Geoff Warner Clayton leaves his home in Kilkenny and takes the train to St James’s Hospital in Dublin to begin a three-hour infusion regime which he has been doing since childhood.
Geoff was a sickly child who had two to three cases of pneumonia. Tests at St Luke’s Hospital in Kilkenny proved inconclusive and he was sent to Our Lady’s Hospital for Sick Children in Crumlin where he was diagnosed with Bruton’s disease, also known as agammaglobulinaemia, a rare condition characterised by the body’s failure to produce sufficient lymphoctye cells.
Eventually he was diagnosed with Primary Immunodeficiency Disease (PID), a condition which can require a dose of immunoglobulin replacement, which is intravenously given in hospital or at home.
There are a variety of primary immunodeficiency conditions and they result from defects in the immune system which stops the body fighting infection.
The World Health Organisation recognises some 80 primary immunodeficiency diseases – each is a result of a defect in one of the functions of the body’s normal immune system.
It is estimated that one in 500 people has some form of PID, but the severity of the symptoms differ widely and only a small percentage of sufferers need radical treatment.
The most common symptoms are regular infections that are more severe, longer lasting and harder to cure than for people with normal immune systems.
Early diagnosis is essential and most severe cases are diagnosed in early childhood.
Intravenous immunoglobulin (IVIG) therapy is necessary for many people with primary immunodeficiency (PI) because it replaces infection-fighting antibodies that are absent in such patients.
The treatment helps to ward off infection but it needs to be given on a regular basis as the effects of the infusion wear off, hence the three-week trips for Geoff to St James’s Hospital.
PID affects an estimated 100 people in Ireland who need such infusions, but hundreds more have minor manifestations of the condition and it is generally regarded as being under-diagnosed because many of its symptoms are confused with conditions such as the common cold and influenza.
It is an inherited condition and Geoff’s brother also has PID.
The intravenous injections helps Geoff’s immune system, but it is all relative. In winter he gets infections and they last far longer than they would with people who have normal immune systems.
“I find that my body is kind of half fighting the infection and it is enough to drain my resources. This can go on for weeks and maybe months, but I would be a lot worse off without the infusions,” he says.
Despite the ongoing problems caused by PID, Geoff says he can continue to function normally most of the time and he is the guitarist and vocalist in the band Alka Jessie who has clocked more than 10,000 hits on YouTube for its laid-back groove.
The band has being getting very warm reviews and has a substantial fan base around Kilkenny.
Geoff was offered and accepted home transfusion at one stage. However, for him it was the inferior option because it meant infusing once a week instead of every three weeks and he had built his tri-weekly visits into his schedule.
For others, though, especially for patients who live in places like Donegal and Kerry, the home transfusions are a godsend which obviates the need for long trips to Beaumont or St James’s Hospital in Dublin for transfusion.
There are currently two PID nurses working in Ireland looking after the 90 or so home care patients.
Ita Smyth, one of the nurses, says the process of teaching PID patients to administer the transfusion to themselves takes between six to eight weeks.
She describes it as a “big pull” for patients. She estimates that approximately 10 per cent of those patients who have PID need regular haemoglobin replacement.
They suffer from a variety of symptoms which include recurring ear, chest or sinus infections, pneumonia and various skin ailments.
Although the process is not difficult once learned, each patient has to be assessed by an immunologist before qualifying for home infusion.
A number of criteria are necessary, according to the literature. The patient must have received their infusion in hospital with no adverse reactions for three to six months; have easily accessible veins; a consistent carer who will be present during the infusion; a telephone; and a willingness to administer their own therapy.
The aim is to minimise the time involved in hospital to enable people with PID to live as normal a life as possible.
The home help nurses are supported by the Jeffrey Modell Foundation which is involved in Primary Immunodeficiency awareness week which is going on this week.
The foundation helps with research and provides much-needed clinic backup for patients in Ireland. The week was set up to raise awareness of the condition because early diagnosis leads to better outcomes later in life.
Smyth says that, in her personal experience, the condition is under-diagnosed. “There is definitely a band of people who have PID who do not know they have it,” she says. However, she stresses that most people with it live normal lives and are involved in all walks of life in Ireland.
International Primary Immunodeficiency week is on from the 22nd to the 29th of April.