Rare disease puts Joburg woman’s life on the line
Treatment for it is available only overseas – and at great expense
ALEXANDRA McDonald is a 1-in-5-million person. Suffering from a rare blood disease, the onceactive and social 28-year-old can rarely leave her home for fear of infection.
And the only possible treatment will cost her family more than R80 000 a month, a cost they cannot afford.
At 22, McDonald was happy, healthy and engaged to the man she believed was the love of her life.
But now, after being diagnosed with paroxysmal nocturnal haemoglobinuria (PNH), the once-independent young woman has been bound to her parents’ home – in between lengthy stays in hospital – for the past six years.
PNH is a rare, life-threatening blood disorder that sporadically causes both clotting and uncontrollable bleeding without warning. It affects only 1 in 5 million people and the cause is unknown.
Her journey to find out what exactly was wrong with her took more than four years.
During that time, McDonald had to endure a liver transplant, a procedure for endometriosis and several brain surgeries to treat blood clots.
Half of her body became paralysed after she suffered a stroke in 2013.
All of which the family later found out were caused by the symptoms of PNH, which doctors finally diagnosed at the beginning of last year.
McDonald’s life hangs in the balance as a result of the continued clotting.
“She can have a stroke or shoot a clot at any time. We don’t stop worrying,” McDonald’s mother Genevieve Jorge said.
McDonald desperately needs life-saving medication called Soliris.
However, each vial of the treatment costs about R80 000, as is available only overseas. It will have to be imported and medical aid does not cover the costs of the medication.
Jorge said McDonald’s current medication and treatments cost the family R14 000 a month on top of what medical aid covers.
According to McDonald’s haematologist, who declined to be named, Soliris is the only medication that can potentially save her life.
While the current medication keeps her alive, it leaves her with debilitating side effects and does not control the PNH attacks.
A bone marrow transplant has helped others with the disease, but this option is not viable for McDonald because she has already undergone a liver transplant.
Her doctor said a bone marrow transplant could cause her body to reject her new liver.
“She can live a normal life again if she just gets this medication; the meds she is on now barely keep her stable. There are times when her platelets have dropped to 1 000,” Jorge said, adding that a normal platelet count exceeded 150 000.
The 28-year-old does not look like she has been through so much, though.
She has learnt to walk again and speak without an impediment after her paralysing stroke. However, she can often not leave her home because her plethora of medications has compromised her immune system, making her susceptible to infections.
Jorge said her daughter had faced death several times.
“There were moments when the doctors told us she was dying; they said we should come and say goodbye… but she is our miracle child.”
Jorge’s biggest wish is to create a communal fund for those suffering from PNH, and to raise awareness of the disease.
Anxiety was etched onto Jorge’s face during the interview. She said the entire family was perpetually worried about McDonald’s health.
“The disease operates at night… That’s when most of the attacks happen. It’s scary,” said Jorge.
McDonald said her mother came into her room several times a night to check that she was still breathing.
“I’m determined to carry on living… my family motivates me to just keep going. It’s been hard, I lost my job and my fiancé walked away, but I’ve found someone new and I’m freelancing, so I’m doing what I can to live as normally as possible with the disease.”
She said she dreamt of one day being well enough to travel the world to trace her family roots.
“But most importantly, I just want to go back to work and get married. I want to be normal and healthy again,” she said.