‘When the pain starts, it is so bad, he will just cry and cry and cry’

Stigma and lack of resources hamper care of patients with sickle cell disease

Five-year-old Benjamin’s parents never knew when a bout of crippling pain might hit him due to sickle cell disease, a blood disorder from birth.

“The pain could come anywhere – the leg, the arm, the tummy – anywhere at all,” says his mother, Grace*. Such episodes are known as “crises” and when they happen, the little boy must be brought to the emergency department of Children’s Health Ireland (CHI) at Crumlin, where he will be put on strong painkillers and admitted for up to a week of treatment to stabilise his condition.

The unpredictability is the most terrible aspect of sickle cell disease, says Prof Corrina McMahon, consultant haematologist at CHI at Crumlin. A child can go to school absolutely fine “and suddenly you get a block in a blood cell, a piece of tissue is starting to die and either you have the most excruciating pain or you have a stroke. You were fine one minute and you are potentially moribund the next.”

Careful management of the condition through medication, blood transfusions and preventative lifestyle measures, such as avoiding cold and drinking plenty of fluids, is required.

Sickle cell disease derives its name from the abnormal shape of the red blood cells that contain the haemoglobin affected by a gene mutation. This haemoglobin variant known as Hb S becomes depleted of oxygen, affecting movement and resulting in a shorter lifespan of the red blood cell. A related condition, thalassaemia, reduces the quantity of haemoglobin the body produces, which affects red blood cells’ oxygen-carrying capacity.

A crisis occurs when the sickled cells cause blockages in the flow of blood, depriving tissues of oxygen and resulting in severe pain. “When the pain starts, it is so bad, he will just cry and cry and cry,” says Grace. It is distressing for his parents to see him suffering and she says it can be hard to stop herself crying too.

The second youngest of five children, Benjamin is the only one in his family with the disease and Grace says she and her husband, who are both from Nigeria, were shocked at his diagnosis as a newborn in Dublin’s Coombe hospital. It means both of them are carriers of the sickle cell gene and, although they don’t have the condition themselves, any of their children would have a one in four chance of being born with it.

Anyone can be a carrier of sickle cell, but it is most common among people with an African or Caribbean background. It also occurs at significant levels among Indian, Middle Eastern and Mediterranean populations such as Italy, Turkey and Greece.

Benjamin attends the red cell and haemoglobinopathy service at Crumlin hospital, led McMahon. She started the paediatric programme for sickle cell disease in 2000, when the need became apparent as Ireland experienced a surge of migration from the mid-1990s.

About 350 children with sickle cell disease attend the Crumlin service, of whom about 110 need a blood transfusion every three weeks. There is also a group of about 150 on daily doses of hydroxyurea, a chemotherapy drug, and they would be seen at intervals varying from four to 12 weeks. Between five and 10 children are born in the Republic every year with sickle cell disease.

The growth of globalisation and ethnic diversity over recent decades means there has been an onus on western European countries to make sure health services are catering properly for those affected by what McMahon calls simply a “horrible” chronic disease. At the end of last year, an all-party parliamentary group in the UK published a damning report, No One’s Listening, that contained findings of an inquiry into “the avoidable deaths and failures of care for sickle cell patients in secondary care”.

It flagged sub-standard care in general wards and A&E; low awareness and inadequate training among health professionals; negative attitudes towards sickle cell patients; and inadequate investment in sickle cell care.

Is it a similar story here?

“Regrettably,” says McMahon, at least on low awareness and inadequate investment. But she wouldn’t go as far as saying there have been avoidable deaths, although there is no specific registry recording sickle cell deaths.

“Have there been sickle deaths? Yes, there have. And have there been child sickle deaths? Yes, there have. Are they avoidable? That’s a moot point.

“I think there will always be mortality,” she says, explaining that US data shows 10 per cent mortality before the age of 20 among sickle cell patients.

We need an expertise because people die if people don't realise that people die

“Looking back at the children who have died [here] of sickle disease, were they avoidable? They may have been avoidable but it was a convolution of events. Could things have been done differently that would have salvaged the situation? Probably not.”

However, she is acutely aware of the “ad hoc” origins of both the paediatric service in Crumlin and then the adult service in St James’s Hospital, Dublin, and how under-resourced they both are. There is no national centre and no national clinical director to guide countrywide care. “We need an expertise because people die if people don’t realise that people die.”

Educational programmes need to be developed at national level to raise awareness of the condition, agrees Noel Ngwenya, a clinical nurse specialist at the Sickle Cell and Thalassaemia Centre in St James's. Led by consultant haematologist Dr Emma Tuohy, the service became fully operational in 2015 and is now attended by about 200 patients.

Ngwenya’s main responsibility there is to offer patient specialist education on the condition, covering genetics, complications and treatment compliance. Routine treatments involve scheduled blood transfusions every three or four weeks and red blood cell exchange.

“Red blood cell exchange is performed in emergencies such as acute chest syndrome, which can be fatal if untreated, patients presenting with stroke and priapism [persistent, painful erection when blood is trapped in the penis], just to mention a few.”

If there was a centre of excellence in the country, that would go a long way to increasing knowledge among health professionals, says Ngwenya, who has been involved in teaching at the National Ambulance Service training centres in Ballinasloe, Co Galway and Tallaght, Dublin, as well as lecturing post-graduate nursing students.

McMahon says haematologists have proposed that sickle cell disease be added to the conditions covered by the national newborn blood spot screening programme. “Because the gene has spread into the whole population, it would seem logical,” she says, instead of the current situation where maternity hospitals conduct newborn screening on an “ethnic profiling” basis.

However, she acknowledges that maternity hospitals, which do this screening out of commitment to patient care rather than being required to, have “by and large” picked up every child born here with sickle cell disease since 2005, with only “a few misses” of which she’s aware.

Traditionally in their African countries of origin they would be told God has cursed them

Not only is sickle cell disease a medically complex condition to manage but it is also one with a persistent stigma in some ethnic communities. It is why the families interviewed for this article ask that their real names not be used.

Parents don't want their communities to know they have a child with sickle cell because traditionally in their African countries of origin they would be told God has cursed them, explains Lora Ruth Wogu, chief executive and director of patient engagement with Sickle Cell and Thalassaemia Ireland.

Such a belief “is incredibly unfortunate”, says McMahon. “It really impacts the stress and the mental health of the young adult who is living with a disease they can’t talk about.”

Some adolescents or young adults may also have been told that when you have sickle cell, you are just waiting to die, says Wogu. If they were born outside Ireland, a doctor in Africa may have said they would not live past 20, so, as they approach that age, “they don’t care any more. They start to spiral – drinking – whereas a patient with sickle cell should not drink, not smoke, they need to eat well”. On occasion, her organisation has been asked to intervene, to encourage patients to stick to appointments and treatment.

Wogu co-founded Sickle Cell and Thalassaemia Ireland in 2011 to raise awareness of the condition both among migrant communities and health professionals. They go into direct provision centres to talk about the disease, the effects of it, the inheritance pattern and how individuals can seek tests to make sure they don’t carry the gene.

The organisation also supports and advocates for patients, of which it estimates there are about 800 in the country. However, that is quite low for the population size, says Wogu, and there is no accurate data about the prevalence, partly due to the stigma and also some not knowing they have the condition.

She would like to see the establishment of a specialised clinic to test adults for the gene, so they know their status before starting a family. While the Caucasian Irish population may not have sickle cell genes yet, they can carry a dormant gene for thalassaemia, she says. If, through inter-racial marriage, a child inherits a sickle cell gene from one parent and a thalassaemia gene from the other parent, they may be born with sickle cell disease.

Sickle Cell and Thalassaemia Ireland is one of the founders of the Europe Sickle Cell Federation, an umbrella organisation set up to advocate at a European level for new measures such as universal newborn screening. While sickle cell is still classed as a rare disease in Europe, "it's the most common rare disease", she asserts.

Wogu herself did not know she carried the gene, although her husband does not, until she came to Ireland from Uganda. Now a mother of five children, she tested after having a child here with cerebral palsy and before she had her third child in 2006.

She had “no clue” what sickle cell trait was and started to read up on it. She also found out that a friend who had been pregnant at the same time as her had a child with sickle cell disease but hadn’t told her, which was another motivation for setting up the support group.

Ngwenya says stigma remains an issue among adult patients, some of whom say they are not allowed to talk about the condition outside their family. The majority are also unlikely to inform their employers.

Grace too is well aware of the secrecy that shrouds the condition. She recalls sitting with Benjamin in the waiting area of the Crumlin clinic and encountering a mother she had been friends with but who she never knew also had a child with sickle cell. The other mother just turned away, pretending she did not know her.

“People see it as a stigma, as a bad thing, as your fault,” she says. “He is not our fault. It is not something any parent planned for.”

She would like to be able to hear from parents of older children about what has helped to avoid their children having crises, but the stigma makes those conversations difficult to have.

She hopes attitudes will change, yet she still asks that her identity not be disclosed in this article. “I am not confident enough for that yet.”

Sometimes he will say 'Mommy I don't want to tell you that I am having pain because I know how you would feel'

While reasonably happy with the care that Benjamin receives in Ireland, Grace wishes there was a bone marrow transplant programme here for children with sickle cell, as that is the only possible cure, albeit one with risks.

McMahon says the possibility of setting up an arrangement with a hospital in Padua, Italy for this procedure to be done on Irish children was explored but the Covid-19 pandemic put the kibosh on that, along with the questionable practicalities for affected families to travel there. They are now looking at a possible tie-up with St Mary’s Hospital in London.

Beatrice* is a little further along the road than Grace as her son, who was born in their native Nigeria, is now 12 years old. He is of the age where he will sometimes hide his pain, as he does not like to upset his parents.

“Sometimes he will say ‘Mommy I don’t want to tell you that I am having pain because I know how you would feel.’” But both she and his father stress he must let them know. About twice a year it is so bad the boy needs to go to the emergency department at Crumlin, where he will be admitted for up to two weeks.

It is a difficult life for their “lovely boy”, the couple add, but increased understanding of the condition in Ireland would help.

*Names have been changed to protect families’ privacy

Irish Blood Transfusion Service: Recruitment drive

The Irish Blood Transfusion Service (IBTS) is to introduce testing for malaria antibodies among potential donors who have lived in malaria-endemic areas, in efforts to increase supplies of suitable blood for the treatment of people with sickle cell anaemia.

Supporting the management of the growing number of patients with sickle cell anaemia is challenging, says the IBTS, in a written response to questions from The Irish Times. There is a mismatch between their blood type requirements and the Irish donor population.

To address the problem, the IBTS is launching a drive later this year to recruit donors of African ancestry, to enable better matching for sickle cell patients. Testing for antibodies to the malaria parasite will be introduced as part of that, to ensure the donations are safe to use.

Currently, anybody who visits a malaria area is excluded from donating blood for the next 12 months. The IBTS will initially apply malaria testing to former residents of areas endemic for malaria but the algorithm will eventually enable shortening the visitor deferral down to six months.

People of African ancestry have a higher prevalence of a particular Rh haplotype in their blood, called Ro, the IBTS explains. RhD Positive donors are a mismatch for “c” or “e” red cell antigens on the Rh system.

“This means that most RhD positive blood donors in Ireland are not suitable matches for most RhD Positive African patients with sickle cell anaemia, and RhD Negative blood is required to compensate for this to meet their transfusion needs.”

As RhD Negative donors which are compatible with “c” and “e” are in shorter supply, donors of African ancestry are needed.

The IBTS is co-funding an MD Fellowship project that will try to quantify the blood transfusion requirements needed optimally to serve individuals with sickle cell anaemia. There are also plans for research into the wider social and behavioural barriers to recruiting donors of African ancestry.

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