Stigma is a 'curse' on sickle cell disease

 

Sickle cell disease is on the rise in Ireland with some 400 children now being treated at the SCD centre in Crumlin, writes CATHERINE REILLY

SEVEN-YEAR-OLD Greg* enjoys darting around his west Dublin home clutching a mini rugby ball and providing his own excited match day commentary. But his mum has had to tread softly on his rugby dreams.

“I tell him, ‘you can manage some soccer but not rugby, it’s too rough for you’,” says Sakinah Adebola Abdul, a quantity surveying graduate from Nigeria.

Greg and his sister Toyin*, who is nine and hopes to be a doctor, have a serious genetic blood disorder known as sickle cell anaemia, which mainly affects people of African background.

It is so-named because abnormal haemoglobin – the protein that transports oxygen in the blood – causes the red blood cells to become rigid, sticky and shaped like sickles.

These atypical cells have a shorter life span and get stuck in small blood vessels, slowing or blocking blood flow and oxygen to parts of the body.

Sufferers are anaemic, vulnerable to infections and experience episodes of pain known as sickle cell crises, while serious complications can involve stroke, organ damage and ultimately death.

Every day, Toyin and Greg must adopt precautions such as staying well hydrated, avoiding over exertion and taking folic acid and penicillin. But a sickle cell crisis can occur despite such preventative measures and their parents remain ever vigilant.

“You are thinking, ‘Oh God, is that child okay? That cry, is it a cry for that pain?’” says Abdul. “The older they get they can tell you, ‘Mummy this hurts.’ They know about it and tell people, ‘I have sickle cell and I’m okay’.”

Up to 2 per cent of babies born in parts of sub-Saharan Africa have sickle cell anaemia, the most common form of sickle cell disease (SCD).

In western countries with diverse populations such as the United States, where about one in 400 African-American newborns has sickle cell anaemia, the condition is also reasonably well known.

In Ireland, a significant rise in cases has occurred in the past decade due to immigration. Some 400 children now attend a de facto national SCD centre at Our Lady’s Children’s Hospital, Crumlin, with about 95 per cent displaying sickle cell anaemia and the remainder haemoglobin SC disease, the second most common type of SCD.

Most clients are Irish citizens born here to African parents before 2005, when citizenship by birth was automatic and families were accorded residency based on their child’s citizen status. However, a small number are in the refugee application system which gave rise to a high-profile case last year when the family of a young Nigerian girl with sickle cell anaemia was facing deportation.

Supporters say the Department of Justice and Equality, which considers humanitarian issues when deciding on leave-to-remain applications from failed asylum applicants, has since granted the family permission to stay.

Some observers may question whether parents of the affected population are engaged in “health tourism”.

However, consultant haematologist Dr Corrina McMahon, who leads the Crumlin service, says many of the children born here were first-borns or the first child with SCD, therefore the accusation is untenable.

The SCD centre at Crumlin started through seed capital from the then area health board in the early 2000s. It is now a national centre for the condition in childhood but McMahon says it isn’t designated as such by health authorities and has not got dedicated funding beyond the seed capital.

It has been largely supported by the hospital over the past seven years, and its small core team, with assistance from other departments, delivers a comprehensive care service including blood transfusion and MRI programmes, transcranial doppler studies (measuring blood flow in the brain), and a hydroxyurea (antineoplastic drug) treatment programme, as well as a psychological service which has recently been affected by cutbacks.

McMahon says most clients don’t need to be admitted to hospital due to the standard of care achieved.

A new challenge on the horizon is the need for an adult service. Patients “out ageing” Crumlin have been taken on by St James’s Hospital but a specialised adult SCD programme would be required to deliver an appropriate standard of care and this would mean funding.

According to St James’s Hospital, it has entered preliminary discussions with the HSE on this issue.

McMahon is conscious of the economic situation, but hopes the HSE sees the bigger picture. “It would be far, far cheaper to continue our prophylactic programme into adult-land, and fund us to provide our [child] programme properly,” she reasons.

“It means the kids stay out of hospital; they achieve their academic potential; they don’t end up with the damage that sickle can do, and ultimately end up as less of a burden on the State as they would be if they become chronically unwell.”

A tailored national neonatal screening programme is also required to detect all new cases, she says.

Such issues could be furthered by a vocal parental group, but the stigma attached to the condition in African communities – where some believe affected children have been “cursed” – prevents people speaking out.

According to researcher Esther Owuta-Pepple Onolememen, originally from Nigeria and who is undertaking a PhD study at UCD on the cultural and health policy implications of SCD in Ireland, the stigma means families have “a fear of disclosure”.

In 2006, the Department of Health granted €7,550 to Clondalkin Women’s Network (in what was then minister Mary Harney’s constituency) to raise awareness of SCD.

Sakinah Adebola Abdul was involved and remembers parents’ fears as being deep rooted.

But she predicts that her children’s generation will hasten a new openness.

‘Greg and Toyin are pseudonyms

HOW IS SICKLE CELL ANAEMIA CAUSED AND CAN IT BE CURED?

Sickle cell anaemia is inherited in a type of genetic lottery and is not contagious.

It happens when both parents have sickle cell trait – a single sickle cell gene carried by up to one-quarter of people in some parts of Africa. The trait is considered benign and provides some protection against malaria. However, when both parents carry sickle cell trait, each of their children has a one-in-four chance of having sickle cell anaemia, the most common type of sickle cell disease.

There is also a one-in-four chance that the child will not have sickle cell anaemia and a 50:50 chance the child will inherit sickle cell trait (if one parent has sickle cell trait, there is also a 50 per cent chance of the child inheriting the trait).

If one parent has sickle cell trait, and the other parent has another abnormal haemoglobin trait, there is a one-in-four chance with each pregnancy of having a child with some form of sickle cell disease, which affects up to five million people globally.

People of African, Hispanic, Mediterranean and Middle Eastern descent are mostly affected.

Advances in treatment have lengthened lives and people with sickle cell anaemia can live into their 50s and beyond with proper care.

No widely available cure exists although bone marrow transplants are successful for some people.

Most recently, scientific research in the US has identified a means of reactivating oxygen-rich foetal haemoglobin production in adult mice effectively reversing sickle cell disease.

Catherine Reilly