- 2 years ago
2 August 2021
Agnes Nsofwa was a mother of three completing a business degree and pregnant with her fourth when she became so ill, she spent weeks in intensive care with a mystery illness the doctors couldn’t diagnose.
“They tested me for malaria, HIV, cancer – they thought I had tumours inside me but they couldn’t find anything tangible,” she says.
Steroids finally helped and, after giving birth to a healthy baby girl she named Joy, life settled down until Joy began to show what Nsofwa describes as “funny symptoms”. The doctors, however, refused to believe anything was wrong.
It was not until Joy was 14 months old and, after suffering horrific fevers following her 12-month immunisation injections, was diagnosed with sickle cell disease.
An inherited disorder, patients with sickle cell disease (SCD) have crescent-shaped red blood cells, impacting the cells’ ability to move easily through the body. This in turn affects haemoglobin, the protein that carries oxygen through the body.
“She had a third attack of pneumonia which turned out to be an acute chest syndrome – a complication from sickle cell,” Nsofwa says.
“Foetal haemoglobin is not affected by SCD so she didn’t have any symptoms until she was six months old when her body started to produce adult haemoglobin, which is affected, but we did not know the symptoms were caused by SCD until she was diagnosed months later and they found 87 per cent of Joy’s red blood cells were sickled.”
SCD impacts people from African, Hispanic, southern European, Middle Eastern, and Asian Indian backgrounds. While between 70,000 and 100,000 Americans have SCD, in Australia, the population is believed to be around 1,000 patients.
A family on the move
Having migrated from Zambia to Perth in 2004, the Nsofwa family decided to move again in 2011, travelling across the country to Sydney so Agnes could study nursing.
“For me to understand what was happening with my daughter was really important,” Nsofwa says. “As somebody who had the gene myself, I also wanted to understand what really happened. Every chance I could get, I would learn about sickle cell disease.”
Doctors in Perth had informed them children with SCD could get a bone marrow transplant, with their third child a perfect match for Joy. However, when a close family friend in Perth unsuccessfully underwent the treatment and passed away, they were not keen to take the risk.
The only drug available for sickle cell in Australia is hydroxyurea, listed on the PBS by BMS as Hydrea along with a generic version. The drug worked for five-year-old Joy for a short time but when she developed complications, they turned to blood transfusions. Further complications meant their next option was red blood cell exchange, which enabled a somewhat normal life but the side effects meant a bone marrow transplant was still under discussion.
Nsofwa soon connected with specialist Dr Francoise Mechinaud at the Royal Children’s Hospital in Melbourne who had experience with bone marrow transplants but felt then seven-year-old Joy’s could not tolerate the aggressive chemotherapy required to perform the procedure, so the family decided to wait until less aggressive chemotherapy was available.
They moved to Melbourne in 2013 and in 2017 Dr Mechinaud returned to France to observe the procedure, later advising she was ready to perform it in Australia.
“We did the transplant on the 21st of February 2019,” Nsofwa tells MedNews. “It was very good. She now has no sickle cell. The bone marrow is producing corrected red blood cells but her genes are not corrected and we will need to discuss this with her when she is older.”
The advocacy road ahead
A Facebook page launched by Nsofwa in 2014 made her realise the family was not alone. Joy became the first child in Australia to have a bone marrow transplant for sickle cell anaemia but for others suffering from the disease, very few are eligible for a transplant. Nsofwa decided she needed to be the voice for others.
“Hydroxyurea is the only drug available in Australia to manage SCD,” she says. “Bone marrow transplants are a cure but not available for every patient. When you ask what’s my number one priority, it is patient access for all doses of hydroxyurea.
“There are now three more drugs approved in America that are not in Australia, hence it is also our hope that we can make it easy for patients to have access to these medications in Australia sooner rather than later.”
One drug that recently arrived is Novartis’ ADAKVEO (crizanlizumab). Registered in April, Novartis has not yet sought PBS access.
Former PBAC member and haemotologist Professor Joy Ho has also successfully performed gene therapy treatment on a thalassemia patient, but for SCD patients this option is still some way off and unlikely to be widely available.
Nsofwa says cultural differences are also proving a barrier to connecting with people impacted by the disease as some cultures don’t feel comfortable talking openly about their health conditions.
“The majority of people affected by this condition come from a background where it’s taboo to talk about health,” she says. “It’s the way they’ve been brought up and it’s going to take time for them to open up and say, I’m part of this patient community but I believe the way to enforce change is by talking.
“In the past 10 years, the number of sickle cell patients in Australia is reported by experts to have almost doubled and the Government should be partnering with patient groups and clinicians to ensure we have alternative treatments. Change can happen if we come together as patients and stakeholders and that’s what we’re trying to encourage.”
*The inaugural Sickle Cell Disease Australia Conference will be held virtually on 17-18 September 2021. More information is available here.