World Sickle Cell Awareness Day

June 2020

RPA’s Professor Joy Ho to join global virtual panel discussion

Agnes Nsofwa is on a mission.

“My dream is that one day every person with sickle cell disease will be given an opportunity to get a cure,” she said.

Agnes and her husband Preston are the founders of Australian Sickle Cell Advocacy (ASCA), an organisation which provides information, education and support for patients with sickle cell disease (or SCD) and their families.

Today, is World Sickle Cell Awareness Day.

RPA’s Professor Joy Ho AM, the Acting Director of Haematology and Director of Research at the Institute of Haematology, is set to join an ASCA virtual international expert panel to discuss SCD and the impacts of living with the disease.

“I have worked in this field for more than 25 years. The number of people with SCD in Australia has increased in recent years due to immigration patterns involving people from countries where the disease is very common.

“Our haematology team has a lot to offer patients and their families. I’m looking forward to explaining the disease in my lecture and participating in the live webinar alongside patients and their carers,” she said.

Other panellists include Professor Baba Inusa, lead consultant in paediatric haemoglobinopathies, at Guy’s and St Thomas' hospitals in London and Dr Anthea Greenway, a consultant haematologist from the Royal Children's Hospital in Melbourne.

SCD is an inherited condition which affects the production of haemoglobin in red blood cells which carry oxygen around the body.
In a patient with SCD, rather than healthy round cells, a “C” shape is formed, similar to a traditional farming tool called a sickle.

The shape, and limited lifespan of sickle cells, leads to an ongoing shortage of red blood cells and may also cause blood vessels to be blocked.

It can be a life-threatening condition and causes chronic pain, infections and other medical complications. It can be managed with regular blood transfusions and medication. A bone marrow transplant is the only known cure.

“However, new therapies which target the disease process, such as inhibiting the molecules that cause the sickle cells to stick together with other cells causing blockages of blood vessels, as well as gene therapy, have been discovered in the past few years. It brings hope to patients for the future,” Professor Ho said.

Agnes and Preston’s own family’s experience led them set up ASCA in 2018.

“Our fourth child, Mapalo-Joy was born with SCD in 2008. We didn’t know anything about the disease. We didn’t even know how to spell it. When the doctors told us she had SCD, we started researching,” Agnes said.

The family moved from Perth to Sydney where Agnes, a finance data analyst, enrolled in a Masters of Nursing at the University of Sydney to learn more about her daughter’s disease.

When she graduated in 2013, the family moved again, this time to Melbourne in the hope Mapalo-Joy would soon be suitable for a bone marrow transplant at the Royal Children’s Hospital.

“Last year, Mapalo-Joy had a transplant. She was 11. One of her older sisters donated the bone marrow. It was the first bone marrow transplant at the Royal Children’s Hospital to cure this type of SCD,” Agnes said.

While she’s still nursing, Agnes is focussed on growing ASCA to provide information, education and support for others.

“We began sharing information on a Facebook page in 2014. And, now we’re a formally registered charity organisation which aims to support people living with SCD in Australia and beyond,” Agnes said.

For more information about the SCD virtual panel discussion, featuring RPA’s Professor Joy Ho, please see https://www.facebook.com/australiansicklecell/