Rare diseases ‘frightfully expensive’ and underdiagnosed in SA

Owing to healthcare constraints, up to 98% of congenital and rare diseases go underdiagnosed in SA

Each day, married couple Mario Keets and Kulsum Isaacs put on a brave face, trying to hide their exasperation, desperation and fear from their three young sons – two of whom are battling a rare disease that gets worse with each passing year.

“I still can’t handle it when I look at them sometimes … because you look at other kids and how they’re prospering and all you want is the same for your child too. But every morning you’re just thankful that they’re alive and surviving another day,” the audibly stressed father from Cape Town told City Press last week.

In September last year, their family’s lives were changed forever when they got the devastating news that their second born, Deen (4), suffers from a rare disease called Hunter Syndrome (mucopolysaccharidosis II).

The disease is known to mainly affect boys.

Because of the illness, their bodies cannot break down mucopolysaccharides – long chains of sugar molecules found throughout the body – owing to a deficiency of the lysosomal enzyme, which helps the body build bones and other tissue.

According to the US National Library of Medicine, the progressively debilitating disorder causes sufferers, from between ages two and four, to develop full lips, large rounded cheeks, a broad nose and an enlarged tongue.

Sufferers also present with significant health challenges such as respiratory problems, joint pain and stiffness, as well as delayed brain development.

It was a recurrent respiratory infection in Deen that saw him hospitalised at Red Cross War Memorial Children’s Hospital last year, which was the first indication that something was amiss.

This April, Rameez (1) was diagnosed with the disease.

Fortunately, their nine-year-old was found not to have the rare condition.

For little Deen the effects of the disease have been more pronounced.

“Doctors are still doing various tests on him, so he isn’t on any specific medication. He was on gabapen [gabapentin, to relieve nerve pain] and it’s actually meant for a 50-year-old, that’s how strong it is, but that’s finished. At night time he really feels it and struggles … He’ll want us to scratch his spine to the point where it’s as if he wants his skin to open. He’ll say: ‘Mommy, it’s sore, it’s paining,’” Isaacs said.

But all they can give him is Panado or Ibuprofen, although his mother said she wasn’t sure whether it made any difference or was in fact harming him.

Last week, the family was back at the hospital for Deen to undergo sleep tests because he struggles to breathe.

“They saw that his breath goes away for a minute during the night, which is very dangerous,” she said.

The family is one of many battling rare diseases, with many sufferers going undiagnosed.

Kelly du Plessis, chief executive of not-for-profit advocacy organisation Rare Diseases SA (RDSA), told City Press that according to estimates based on global prevalence there are about 3 million people living with rare conditions in South Africa.

“RDSA has less than 1% of the patient population on our database. Underdiagnosis is a critical issue as we do not have enough local capacity in terms of referring for genetic services. We know, according to established studies, that congenital disorders are being underreported by 98%, and we estimate the same across the rare disease space,” she said.

Plus the costs to treat rare and congenital diseases are often insurmountable, both locally and internationally.

Keets said the enzyme replacement therapy they would need for their sons, which is not covered by public hospitals, would amount to R2.7 million a year.

The family was advised by doctors at Red Cross to try joining a medical aid scheme, which might be able to fund the medication.

But as Keets is the only one employed in the household, because his wife looks after the children, the family cannot afford the cost of medical aid currently.

This led them to go the fundraising route – they hosted a Bingo night last month and raised R12 000.

But their ultimate aim is to raise enough funds to be able to join a good medical aid plan and cover their premiums for a year so that their children get a shot at care that could drastically improve their quality of life.

“This whole thing has been emotionally damaging on me and my wife. I try being strong because I am the man of the house and family. I try not to show that … it’s very tough for me because I’m the only one working as my wife needs to look after the kids, my dad recently passed away and we’re looking after my mother, who suffers from depression. It’s very tough,” he said.

Earlier this year, City Press wrote about another child born with a rare congenital deformity.

Mnqobi Nhlanhla has tibial hemimelia, which resulted in both his legs turning inward.

His parents are on a quest to raise the R2.9 million it will take for him to receive corrective surgery.

Read: Every bit counts in race to help Baby Q

Du Plessis said that most families are forced to go the fundraising route as many treatments for rare diseases are not registered in the country and are only funded as an exception by medical schemes.

“The treatments are frightfully expensive owing to low yield of research and development costs. For a mainstream drug, you have millions of customers to recoup the costs of research and development, whereas in rare diseases you sometimes will only ever have a patient pool of a few hundred patients globally, which drives up the cost. Also, these treatments are generally not curative and are required lifelong, so it’s really a big long-term cost,” Du Plessis explained.

She added that her organisation had had some success in advocating for patients under its register and on medical aid to access treatment, but sadly not so much in the public sector as the landscape is more complex and health systems are generally failing.

“Our government has not yet realised that rare diseases are a threat. There was a time once when both cancer and HIV were rare diseases, look how they expanded. It’s the same with genetic conditions; if we are not doing more to prevent, raise awareness and educate patients, they may very well be our next pandemic.”

In the meantime, the Cape Town family is getting assistance from PaedsPal Paediatric Palliative Care, a public-private partnership that provides support to families of children living with life-limiting illnesses, as well as Footprints 4 Sam, a trust that helps transport them to and from hospital.

“We also want to create awareness on rare diseases because most people don’t know about them. Many people in our neighbourhoods sit and watch their children die because they have no money to get help for them and don’t even know where to start. In the beginning I used to punish myself thinking that because I was the carrier of this disease I was to blame for my children’s suffering. I thought God was punishing me, but I’ve since realised that it’s not true. God wouldn’t give me something I could not handle, and I have to be a champion for my kids,” Isaacs concluded.

To get in touch with the family, send an email to kulsumisaacs6@gmail.com

Vuyo Mkize Health journalist | City Press

+27 11 713 9001 vuyo.mkize@citypress.co.za Media Park, 69 Kingsway Road, Auckland Park

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