Metachromatic leukodystrophy (MLD) is a rare hereditary disease characterized by accumulation of fats called sulfatides. This causes the destruction of the protective fatty layer (myelin sheath) surrounding the nerves in both the central nervous system and the peripheral nervous system.
Nico is an 11 year old passionate boy, big arts and craft entrepreneur full of fun and laughter. He is a 79% average student in academic and loves to explore new things.
August 2019 he was admitted to hospital for Swine Flu and Mysositis. He recovered well from the Swine flu after a week in Hospital.After he was discharge from Hospital we started noticing that he just go into his own world for a couple of seconds a few time day, and that started getting worst after the flu.
We contacted his Paediatrician regarding the situation. He the referred us to do an EEG. A week later the appointment was booked and Nico had to go for the EEG.
The EEG was done and we had to wait 3 -4 working days for the results to be announced.
The Doctor call us to say Nico has Silent Epilepsy and started treatment right away. He also mentioned that Nico will have to go for an MRI as something is not right on the EEG report. He the admitted Nico to Hospital to run a few test like Allergies, White blood cells, red blood cells etc.
That same day Nico got the MRI scan done, and the next day he was discharged from Hospital. The doctor told us he is referring us to a Pediatric Neurologist Dr Lamb at Wilgers Hospital.
The MRI Report was as follow:
Bilateral. Symmetrical periventricular white matter hyperintensites noted on the T2 and FLAIR sequenes. Findings highly suggestive of Metachromatic Leukodystrophy. Differential diagnosis - other Leukodystrphies ( including Pelizaeus-Merzbacher disease )
Dr Lamb check through all the scans and blood test results. Had a long chat with Ouma and myself regarding the illness and that before he can make a diagnose he would like to go through all scans and results with his partner Dr van Rensburg.
A week went past with no diagnose. Later that week we received a mail from Dr Lamb stating that he is busy sharing all Nico’s information with a close friend / Professor in the UK to see if they can run a trail that will help us on the medical bills. 2 weeks past and Dr Lamb go back to us to say the professor in the UK referred him to another professor in Italy ( Milan ). Dr Lamb complied a long and extensive report to the Professor in Milan.
More medical tests will be done before they can give us an final answer on what is going on and will we be able to treat it.
Nico is an 11 year old passionate boy, big arts and craft entrepreneur full of fun and laughter. He is a 79% average student in academic and loves to explore new things. August 2019 he was admitted to hospital for Swine Flu and Mysositis. He reco…