A Blood Condition Called Severe Congenital Neutropenia in the UK

Audra Keir (48) and her son, Mark (19), have a blood condition called severe congenital neutropenia which means they lack the type of white blood cells needed to fight bacterial and fungal infections leaving them unable to fight throat, skin and chest infections as well as countless others. Even cuts can see them on a drip in hospital if antibiotics are not taken quickly enough.  A normal cell count for a healthy person is 1500-8000 cells per microlitre of blood with anything under 500 considered a severe case – Audra’s count is often just 20 or 30.

Like Ariana-Leilani, if they are unlucky enough to get an infection and the correct treatment is not given in time then their neutropenia can prove fatal.  “Apart from being very open to bacterial infections, their condition causes extreme fatigue and aching limbs, tiredness, mouth ulcers and, of course, very serious infections which can start off small and become very difficult to treat very quickly as our bodies don’t mount a normal immune response.

As if their illness wasn’t debilitating enough, Audra and Mark have an increased chance of their condition further mutating into acute myeloid leukaemia and when it comes to their treatment, Audra says they face an alarming dilemma.

The Keirs have suffered problems all through their lives due to the neutropenia such as serious infections, long periods of ill health, extreme fatigue and low mood. This, in turn, has led to problems with normal life like education and work with Audra only being able to work part-time in finance and not judged as ill enough to be able to claim any benefits. Mark, meanwhile, was often off school with the condition.

On trying to claim benefits, Audra said, “I feel I was discriminated against at all times through the process because of the rarity of the condition. We are judged as having a disability when it suits and not when it doesn’t and are caught in the middle with no emotional support or otherwise. We do feel very isolated with this condition and I know other sufferers feel the same.

Support for the disease is very limited as Audra explained. “We’ve never had any direct help. We’ve always had to go looking for it. I help run a predominantly Facebook-based support group here in the UK which was started by another lady in Somerset. Our support group has been running for nearly two years and is growing slowly in numbers with 163 members currently.

“Although the group is UK-based, nearly a third of the members come from abroad with people from the USA, Australia and other parts of Europe. We are trying to become a charity. In the USA and Australia they have their own support organisations but there was nothing in the UK.”

The rarity of neutropenia means that the worldwide patient group suffer from public ignorance and even a lack of understanding from medical professionals. Audra’s own consultant haematologist has only ever treated two patients with the condition – Audra and Mark.

In the last couple of years, they have had some support from a specialist genetics support nurse based in Dundee who sees the family at home every few months. Apart from this, they get no support from other official bodies.

With the severity of the Keirs’ condition affecting one in every one to two million people there are only around 60 to 70 people in the whole of the UK with the illness and they don’t enjoy specific experts or centres of medical excellence for advice and support and there is also no funding. Expert advice comes only from contacting an international registry of the disease based in Washington DC, in the US.

Audra said, “Last year I attended a reception for Rare Disease Day at the Scottish Parliament which was highly informative and I hope to do the same this year as the Scottish Government try to push a rare disease UK strategy. I was really encouraged to see that the government is trying to support all sufferers of rare diseases but the strategy is still in its infancy and will take some time to become a reality.”

International Rare Disease Day 2015 takes place on 28th February

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