Rare Warrior, Juan Venter was born on the 21st of April 2022 at 35 weeks. Juan was immediately placed in Neonatal ICU for 4 weeks while experiencing problems with lungs.
At 7 months we enrolled Juan at a small nursery school in Secunda. He developed Pneumonia and ended up having to be admitted to Mediclinic Trichardt. The doctors then noticed deformation starting on his back with a lump. Juan’s Mom, Juanita, had to resign her job as a qualified teacher to look after Juan full time.
During mid-January 2022 Juan experienced trouble breathing and again was admitted to Mediclinic Trichardt. His oxygen levels were in the 70% range. Within 2 weeks of admission, Dr Khothule transferred Juan to Netcare Sunninghill where he was admitted to Cardiothoracic Intensive Care Unit (CTICU) under the care of Dr Alicia Lazarus (Paediatrician), and Dr Rendani Mamathuba (Paediatric Pulmonologist).
Dr Lazarus suspected Mucopolysaccharidosis type 1 (MPS 1) and initiated tests and at the age of 10 months, Juan was diagnosed with MPS 1. During the 2 weeks at Sunninghill, Juan experience breathing difficulties, and the doctor arranged for Home Ventilation Program and Juan received his CPAP machine, also known as a sleep apnea machine. With this machine, Juan’s oxygen levels remain constant between 90 and 98%. Without this machine, his oxygen level drops to mid-70 to 85%. Juan then underwent an operation to remove he is adenoids to ease breathing.
During May, Dr Lambie (Clinical Geneticist) was introduced to us. She explained to us how the genetics work. On June the 3rd 2022, Juan started with his first enzyme treatment at Netcare Sunninghill hospital. Juan had to go to Sunninghill weekly for his treatment, but in June, Dr Nunn (Paediatric Surgeon) inserted a port below his clavicle to allow treatments to be done at home and Juanita received training from the nurses to do so.
On Fathers’ Day the in June 2022 Juan was back to Netcare Sunninghill due to excessive nausea and he was unable to keep anything in his tummy. He was diagnosed with influenza A and put on high flow oxygen. He also had other bacterial infections. He was then transferred to the ICU due to a high heart rate which was between 170 – 210 and fluctuating infection rates with trouble breathing.
On the 1st of July 2022 Juan was put on a ventilator to enable him to rest. By the 3rd of July Juan was 100% on full life support and terribly ill. Later the following week, Juan’s condition improved, and he was able to be taken off the ventilator. At the end of July Juan underwent another operation, this time to remove a hernia and the port.
During hospitalisation, Dr Nadia Beringer (Paediatric Oncologist) from Donald Gordon Medical Centre visited us to explain that she is going to present Juan to the transplant committee to see if he is candidate for a bone marrow transplant.
We have so many people and organisations to thank. Thank you to the whole team of doctors, physio’s and nurses who work with Juan. Thank you to Sanofi and Rare Disease South Africa who stand by us through with everything. Thank you again to Rare Diseases South Africa for ensuring that the medical aid approved Juan’s treatment so quickly and for continuously checking in with him. Thank you to Pharmacy direct for prompt delivery of medical supplies. Last, but not least, thank you for the donation of Juan’s Rare Bear.
Juan is a little fighter and warrior. May God guide the doctors to heal him.