A slightly different blog this time around! This is an issue I am passionate about and where I have first hand experience. I have been subject to what happens if people are not educated about genetic disorders (sickle cell being one of the most prevalent worldwide). Ignorance from healthcare professionals is not an excuse anymore!
19th of June is a United Nations recognised day, officially designated as World Sickle Cell Awareness Day. The international awareness day is observed with the goal of increasing public knowledge and understanding of sickle cell diseases, and the challenges experienced by patients, their families and caregivers.
This came about because the United Nations General Assembly adopted a resolution that recognised sickle cell diseases as a public health problem and "one of the world's foremost genetic diseases." The resolution calls for members to raise awareness of sickle cell on a national and international level.
Sickle cell is not one disease, it is a group of disorders that involve a faulty gene for the formation of haemoglobin. My form is haemoglobin SC disease (HbSC) but there are many other variants, including HbSS (regularly referred to as sickle cell anaemia and the most known form). See Table 1. for further examples.
How prevalent is it?
Currently, approximately 250 million people worldwide carry the gene responsible for sickle cell disease and other haemoglobin diseases. Each year about 300,000 infants are born with a major haemoglobin disease worldwide.
The sickle gene is found in all ethnic groups. It is estimated that there are between 12,500 and 15,000 people with sickle cell disease in the UK.
Sickle cell and related disorders are commonly (but NOT only) found in people whose families come from Africa, South or Central America (especially Panama), Caribbean islands, Mediterranean countries (such as Turkey, Greece, and Italy), India, and Saudi Arabia.
Problems faced by sufferers
Sickled red blood cells are stiffer and abnormally shaped than regular blood cells. The combination of these characteristics is thought to promote the blockage of small blood vessels, which prevents oxygen supply to tissues and causes injury. This is referred to as an acute painful crisis.
Many people attending emergency departments with acute painful crisis are regularly ignored, seen as drug addicts, not regarded as medical emergencies and many other problems. In the UK National Institute for Health Care Excellence (NICE) have issued many guidelines about the importance of timely treatment and the complications of sickle cell disorders. In 2014, information around diversity, equality and language was published. The aim was to develop resources to be used universally to avoid patients receiving substandard treatment and to audit services and patient experiences. Despite this, service users still report bad treatment to the point where they would rather stay at home and try to manage their pain and other symptoms.
I have been known to attend A&E with a copy of the NICE guidelines on my phone in order to ensure I am listened to and not ignored. Since then, there has been a special alert on my medical notes with a written treatment plan from my haematologist to ensure I do not face any problems!
In a 2019 Sickle Cell World Assessment Survey (see below), supported by Novartis three areas were assessed; physical symptoms, emotional wellbeing and economic burden. I took part in this survey and I was shocked and worried by a number of things highlighted within it.
Complications faced
According to the NICE guidelines, the management of acute painful sickle cell episodes for people presenting at hospital is variable throughout the UK, and is a frequent source of complaints.
Acute painful sickle cell crisis is an acute condition that occurs in people with sickle cell disease. For people with sickle diseases, red blood cells behave differently under a variety of conditions, including dehydration, low oxygen levels and elevated temperature. Changes in any of these conditions may cause the red blood cells to block the small blood vessels, restricting blood flow. This damages the tissue, which causes pain.
Acute painful sickle cell episodes are unpredictable, without clear precipitating factors. Their frequency may vary from less than 1 episode a year to severe pain at least once a week. Pain can vary in both intensity and duration, and may be excruciating. Most painful episodes
are managed at home, with people usually seeking hospital care only if the pain is uncontrolled or they have no access to pain relief. The pain relief often used include Tramadol, Morphine and Oxycodone (controlled drugs many of which belong to the opioid family). The primary goal in the management of an acute painful sickle cell episode is to achieve effective pain control both promptly and safely.
Want to fundraise? find details at the following site: https://www.sicklecellsociety.org/fundraising/
Want to learn and find out more? Here are some useful websites. A mixture of patient based material and official guidelines to help you know what you are entitled to!