GEORGE NEWS - Theuns and Drini Botha’s eldest son, Theuns jnr, was diagnosed with sclerosteosis in 2008, when he was three years old.
The couple who live and work in George, have since been actively involved in initiating research into a cure for sclerosteosis. With rare conditions like Sclerosteosis, it is usually not financially viable for pharmaceutical companies to invest large sums of money to find a possible cure.
Immense effort has been made by Dr Herman Hamersma (ENT), Dr Louis Hofmeyr (ENT), Dr Jacques du Plessis (Neurosurgeon) and Dr Tommy Bingle (Neurosurgeon) to treat the patients symptomatically via surgery, but nothing has been done to find a possible preventative treatment or cure.
Fortunately, Theuns obtained a BSc degree with honours in Biochemistry in 1998 at the University of Stellenbosch. Theuns and Hamersma in Pretoria, have since 2009 petitioned tirelessly to find a cure for sclerosteosis. They sent the research proposal by Theuns (The effects of sclerostin administering on bone turnover) to various reputable tertiary education institutions and pharmaceutical companies across the globe. For years Theuns tried to find a research facility to do the research for a cure for sclerosteosis. Not an easy task for a businessman not involved in scientific activities for more than 10 years.
Eventually, the person who finally showed interest in helping was Prof Vinny Naidoo, Deputy Dean in Research and Postgraduate studies at the faculty of Veterinary Science, at the University of Pretoria, here in South Africa. He agreed to accommodate the sclerosteosis research project at one of their research facilities (at Onderstepoort), which started in January 2016. The only obstacle was finding adequate funding for the very expensive project.
Theuns and Drini founded the Rare Bone Disease Foundation in 2016 to raise funds. Family and friends greatly contributed to this fund, but it was the substantial initial donation made by Michiel Barnard that gave the project the necessary vital capital injection it so desperately needed.
The project, however, needed a main researcher who would be willing and able to be a part of the project on a full-time basis.
Timothy Dreyer, who was himself diagnosed with sclerosteosis at the age of two, agreed to be the full-time researcher of the project. Dreyer is now doing research to find a cure for his own condition. He has undergone numerous corrective surgical procedures, but the condition has severely affected his hearing. He has achieved excellence in many spheres and graduated from the University of Witwatersrand with a Masters degree in Medicine, including BSc Biological Sciences (Medical Cell Biology & Biochemistry), BSc Hons in Biochemistry and MSc in Medicine (Molecular Medicine). The latter he passed with distinction.
UCB Pharma, a large pharmaceutical company, was notified about the project by a colleague of Hamersma, Prof Socrates Papapoulos. They contacted Dreyer and Naidoo with regard to cooperating in the project and after all legalities were finalised, Dreyer left for London on 3 September to make use of their world-class facilities.
Following an article by Bloomberg Businessweek about pharmaceutical companies making use of abnormal genetics to develop treatment for various other conditions, but nothing being done for the rare disease sufferers themselves, BBC scheduled a documentary to be filmed in September.
Superhuman fundraiser
Drini is staging the SUPERHUMAN variety fundraiser concert on Saturday 24 September in the Oakhurst Insurance Arts Theatre. The show title, SUPERHUMAN, refers in part to the effects of this condition that results in extreme hardening and thickening of bone, making the bone almost impossible to break. But above all, the title refers to the spirit of these individuals in coping with the condition on a daily basis.
Tickets available at the theatre: 044 874 3142.
For more information go to Rare Bone Disease Foundation Facebook page.
What is Sclerosteosis?
Sclerosteosis is a rare autosomal recessive genetic disorder, a debilitating condition that irrevocably alters the lives of the people who has it, as well as their families.
The clinical features are uncontrolled bone formation that leads to thickening and sclerosis (hardening) of the skeleton, including the skull, resulting in widening of the jaw, distortion of the face, gigantism and entrapment of the cranial nerves as well as spinal nerves with consequential recurring facial paralysis, hearing loss, loss of smell and severe headache and back pain.
The most dangerous feature is raised cranial pressure that can lead to sudden death due to impaction of the brain stem in the foramen magnum.
• Finger syndactyly and nail dysplasia
• Facial distortion/paralysis (might be mistaken for Bell’s Palsy)
• Hearing loss
• Confirmation by x-ray.
Hamersma is an individual who makes us proudly South African. He is an ENT specialist and lives in Pretoria. He saw his first patient with sclerosteosis in 1964. Regarded by many as a world leader in this field, his life work includes years of research into the clinical features and genetics of various sclerosing bone diseases, including sclerosteosis.
He has co-published numerous articles in medical journals about sclerosteosis and has travelled world wide to research and document various cases, as literature of this condition was confusing and not clearly defined.
He has lectured at major world conferences about marble bone disease and facial paralysis. Sclerosteosis patients and families in South Africa regard him as their rock and are very grateful for his invaluable contribution towards the diagnosis and management of sclerosteosis.
Theuns and Drini Botha with their sons Niel (left) and Theuns jr in 2009.
Timothy Dreyer and Dr Herman Hamersma, the Botha's pillar of strength.
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