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Medics raise awareness of widely unknown immune system disorders

Medics at Heartlands Hospital are raising awareness of disorders in which part of the body’s immune system does not function properly.during world primary immunodeficiency week on 22 – 29 April.

As many as one in 500 people may have an immune deficiency, and many can be unaware that symptoms such as frequent or severe infections can be linked to an immune system disorder.  Often running in families, there are over 150 primary immune deficiency diseases and symptoms can be displayed early on in life but also occur for the first time in older children or adults.

Most immune deficiencies can be identified through simple blood tests, and with early diagnosis, treatment can be given to maintain good health.

Heartlands Hospital immunology consultant, Dr Aarn Huissoon, said: “Many people have persistent coughs, colds and recurring infections, particularly children but true immune deficiencies are uncommon. GPs can very easily carry out simple blood tests which will pick up over 80 percent of all immune deficiencies. If immunodeficiency is diagnosed, the patient can be offered treatment to prevent infections and help the patient lead a normal life.”

Case study

Mr Marston’s daughter, Harriett, aged four was diagnosed with the primary immunodeficiency, IRAK-4 in 2012.  The family live in Bromsgrove and Harriett is one of eight to nine cases in the UK with this rare disorder.  IRAK-4 deficiency is an inherited disorder of the immune system which leads to recurrent infections.  Most people with this condition have their first bacterial infection before age two, and the infections can be life-threatening in infancy and childhood. Infections become less frequent with age.

Mr Marston explains: “At nine months old, we noticed Harriet had a swelling on the right hand side of her neck.  We thought she had toppled over, but then it disappeared.  She then got the same swelling again at aged three years and nine months.  We went to the Hopsital to get it checked but there was no conclusion answer so she was booked for an MRI scan.

“Three days before the scan, the lump got much worse and we went to the A&E department of our local Hospital.  Harriett ended up having the lump removed which was an infected abcess.  She had blood tests but there were no markers why she was so poorly.  Heartlands Hospital immunology consultant, Dr Scott Hackett looked into the case and when her test results came back, he identified that Harriett had an extremely rare condition called IRAK-4 deficency.  This condition means Harriett is unable to fight off infections and can be life-threatening.  These infections can happen quickly and as one of the symptoms is that a fever is not developed in response to the infection it can be hard to identify how seriously ill Harriett is.  I fear that without the expertise of the doctors at Heartlands it may have gone undiagnosed.

“Harriett now has daily antibiotics to fight off bugs before they appear and immunoglobulins, which are blood products at home via a small pin in her leg once a week.  We see this as being like a protective shield to some extent.  It’s a comfort to know we have a care plan to deal with this condition.  I couldn’t speak highly enough of those that treated Harriett.”

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