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Rare Disease Day: my experience with NK LGLL

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28 Feb 2018

​Today is Rare Disease Day, which aims to raise awareness among the general public and decision-makers about rare diseases and their impact on patients’ lives. An illness is considered rare if it affects fewer than 50 in 100,000 people.

Louise Bentham pictured at home. Louise has NK cell Large Granular Lymphocytosis, a blood cancer which is classified as a rare disease

All blood cancers are considered rare diseases but collectively blood cancers remain the third biggest cancer killer in the UK. To mark this day, we spoke to Louise Bentham who has been living with NK cell Large Granular Lymphocytosis since she was 55 years old.

“According to Rare Disease UK there are an estimated 6,000 rare diseases and together they affect the lives of around one in seventeen of the UK population at some point in their lives.

In 2012, I became a member of the #1in17, when I was diagnosed with a rare blood disorder known as chronic NK cell Large Granular Lymphocytosis or NK LGLL. Delayed diagnosis is common for rare diseases. I was diagnosed six years after experiencing the first signs and symptoms. Given GPs are likely to see fewer than one or two cases throughout their career, this is probably understandable. From a patient point of view however, pre-diagnosis can be a lonely and frustrating place.

LGLL happens when the bone marrow makes lots of abnormal T cells or NK cells, leaving no room for other types of blood cells. For me, the first sign of anything amiss followed a bout of flu in 2006. At the time, I was an active mother of three school children, working as a part-time research nurse managing a large study, and exercising five mornings a week before I started my day.

Pain under my ribcage, which was later identified by CT as an enlarged spleen, began to keep me awake at night. My joints, mainly hands, shoulders, and spine, would take it in turn to ache and stiffen for several weeks at a time which was accompanied by low grade fever and night sweats. In 2010, an episode of pain in my lumbar spine worsened to the point that I could only walk short distances before needing to lie down.

By the time my condition was diagnosed in 2012, I was keeping a diary and had become reasonably proficient at recognising the onset of these ever-increasing episodes of pain, which were always accompanied by debilitating fatigue, common to other lymphoproliferative conditions.

Neutropenia, lymphocytosis and anaemia are often present in LGLL. Prior to diagnosis, my blood test results had been persistently mild and abnormal. In 2012, when a prolonged period of abnormal test results was noted, flow cytometry was ordered and revealed many NK cells with the same odd appearance.

Thankfully, I was referred to a professor of haematology with an interest in lymphoproliferative disorders, who recognised the benefits of working with patients to provide support and information. He encouraged me to find other patients with LGLL in the UK and to set up a patient support group. In November 2014, the UK LGLL group met for the first time, bringing together patients from around the UK and Ireland who met via a US Facebook group. UK LGLL now has its own Facebook group and we meet annually in Birmingham to support one another and share coping methods, and for a regular LGLL research update from Professor Paul Moss.

Professor Paul Moss and Dr Pradeep Ramagiri pictured in a laboratoryProfessor Paul Moss and Dr Pradeep Ramagiri

According to a 2015 survey of the LGLL patient group, diagnosis, management and treatment vary considerably from centre to centre. However, while most group members had experienced lengthy delays before diagnosis, 21% had developed neutropenic sepsis requiring an emergency admission prior to diagnosis. The survey also highlighted the worry and financial impact experienced by some patients because of LGLL. For example, some patients were dismissed from work, or failed to have work contracts renewed because of time off work due to frequent infections related to neutropenia, and because of severe fatigue.

My experience as a rare disease patient has taught me to become as informed as possible about my condition and to keep updated so I can quickly address signs and symptoms, or ask for an appointment. Joining a group of others with LGLL has provided a very welcome opportunity to share information and discuss coping methods. I no longer expect new or unfamiliar clinicians to know about LGLL and it is very useful in these circumstances to be able to refer to a copy of the Bloodwise LGLL factsheet. From our meetings I have learnt that in emergency situations, particularly for LGLL patients with severe neutropenia, it is important that clinicians trust and respect a patient’s knowledge about their condition.

Fortunately, the UK Strategy for Rare Diseases, published by the Department of Health in 2013 to improve the identification and diagnosis of rare diseases, is gradually being recognised and implemented. This welcome directive pledges to address key areas including: empowering those affected, early intervention, developing coordinated care pathways, and encouraging and supporting research.”

Read our patient information about LGLL.

Comments

04.06.2018

What a powerful story - thank you for sharing Louise. We are so pleased our factsheet helps you raise awareness of LGLL with health professionals you meet! Wishing you all the best, Dawn @ Bloodwise