Nadia Rynners
Nick and Marina Deen from Pretoria-North had no inkling what awaited them when their boy Ben was born in 2013.
There was no warning that their angelic-looking boy was suffering from a rare disease.
A disease that still, after two years, does not have a name, no specific treatment, and no cure yet.
Nothing could prepare them for life with a child plagued by vomiting, diarrhoea convulsions, epilepsy, perspiration, metabolic dysfunction, hypotonia and immune deficiency on a daily basis.
This translates into chronic pain 24 hours a day.
“Caring for Ben is complicated, enriching, a never-ending learning experience, with times exhausting, heart-breaking and above all, a love journey,” says his parents.
His monthly medical expenses roughly amounts to R23 500.00, barring the unexpected.
This divided into his school fees, food (currently he is on a ketogenic diet), therapy, doctors, lab work, specific testing, and more cost.
There is equipment available, of which some is critical for daily survival and improved life quality, for someone with a rare disease.
Deen needs a specialised stroller, a therapy chair, a patient hoist (for when he is bigger), a car seat, a d a bath seat with some of the costs as high as R92 500.00 for one item.
Gear like this help with circulation, blood pressure, respiration and voice control, stretch muscles, prevent the onset of contractors, improves well being and alertness, aids with digestion and bowel function, as well as bladder drainage.
It could also boost the formation of the hip joint in early development and improves skin integrity by relieving pressure encountered during seating.
Rare Diseases SA is a registered Non-Profit Organisation in Johannesburg assisting all patients affected by rare diseases.
They help with access to life-saving treatment and supportive care for improved quality of life.
Kelly Du Plessis from Hartbeespoort founded this organisation after her son was born with a rare disease.
Du Plessis said her son was six weeks old when she knew something was just not right.
After more visits to the clinic and other places with similar aged babies, it become clear that he was weaker and more “floppy” than others.
Her son’s medical diagnosis was a life-limiting condition called Pompe disease.
Pompe disease, according to Genetics Home Reference, is an inherited disorder caused by the build-up of a complex sugar called glycogen in the body’s cells.
It is estimated to affect one in every 40 000 births.
The accumulation of glycogen in certain organs and tissues, especially muscles, impairs their ability to function normally.
“Pompe used to be terminal, but with first generation therapy now available, patients have an improved life span,” said Du Plessis.
“We take it one day at a time. We don’t get too wrapped up in what the prognosis is, and focus more on his quality of life.”
Du Plessis said doctors in general did not know much about this disease, adding: “It would be wonderful if they would listen to a mothers instincts.”
“Rare Diseases SA advocates for improved quality of life, and access to life-saving treatment,” she said.
“Some of the things we cover are ad-hoc treatments, legal fees and advocacy efforts, Medicine Control Centre (MCC) approvals, medical bills, as well as various emotional support activities, such as family days.”
Rare Diseases SA states that a disease is considered rare when it affects one person in a population group of 2 000 people.
About 350 million people around the world are affected by a rare disease, whereas over 7,000 distinct rare diseases exist and approximately 80 % are caused by faulty genes.
The National Institutes of Health (NIH) estimates that 50% of people affected by rare diseases are children, making rare diseases one of the most deadly and debilitating for children worldwide.
Rare diseases are responsible for 35% of death in the first year of life, and globally.
Currently there are 95% of diseases with no registered treatment.
According to estimates from the National Institutes of Health (NIH), it will take 10,000 years at the current rate of US Food and Drug Administration (FDA) drug approvals to find therapies for all people suffering from rare diseases.
Fewer than 400 treatments are approved by the FDA for the nearly 7000 rare diseases which have been identified based on information from Global Genes website.
The Deen’s are hosting a golf day (www.bendeennpo.co.za) on 25 November at the Akasia golf course in Pretoria to raise money for Ben’s medical care and mandatory equipment.
They are working to create a portal to help other children with special needs, as well.
Also read:
Ten baby diseases to look out for
Fact sheet to common disease question
Do you have more information about the story? Please send us an email to editorial@rekord.co.za or phone us on 083 625 4114.
For free breaking and community news, visit Rekord’s websites:
For more news and interesting articles, like Rekord on Facebook, follow us on Twitter or Instagram.
-
-
-
-
