Mc van der Merwe was born on 9 December 2014, after we had prayed for him for many years. He was such a beautiful baby boy, he did everything a baby had to do.
On March 21st 2016 he had what looked like a fever-fit, although his fever was only 37.4. We rushed him to ER where he was treated and kept in Pead’s ICU for 7 days, the pediatrician did every single test she could to find the problem. She found nothing, except that he had a small calcification in the left frontal lobe of his brain.
She referred us to Dr Veza Mogashoa, a pediatric Neurologist. She had a look at all the scans and EEG results, and we were admitted to hospital once again for a MRI & 24 Hour EEG.
Within the next 12 hours our world was shattered, she called us into a small consultation room in the children’s ward; I didn’t think anything of it at the time. Dr Veza explained to us that Mc has Tuberous Sclerosis. At first I was numb, and extremely dumb. What did this mean?? How did it work? What are we suppose to do? And how long will it take to cure? Unfortunately there is no cure yet for TSC.
Mc had numerous epileptic fits from March 2016 to Feb 2018, in Oct 2017 he had a fit that lasted 63 minutes, he lost most of his speech at this time. In Feb 2018 he once again suffered from a severe seizure. We were admitted once again and this is where Dr Veza told us we were with our back’s against the wall, all the different medications we have tried, haven’t given us any control of the seizures. We were forced to put him on Sabril, which was a fight of its own re: payment by medical aid. We have an awesome support system when it comes to a very special pharmacy, they fought with us every step of the way, from struggling to fall pregnant up unto today, Medico Pharmacy has been with us every step of the way.
Dr Veza also recommended a Ketogenic diet. We had an amazing help in starting the Ketogenic diet from Elzette at Metabolica Med. We saw an immediate change in the seizures after starting keto. Unfortunately this diet comes with its own pro’s and con’s. We are taking it day by day, trying our best to avoid more drugs being added to his daily medication, which would mean more side effects. Currently Mc is taking a range of medication together with the keto diet and he is well controlled. We are hoping and striving towards weaning of the medications, as these are highly addictive and also have their own side effects that do have complications in everyday life.He also shows some kidney involvement, that will be attended to by a nephrologist in a weeks time.
Please support the International Rare Diseases Awareness month – this happens in the month of February. I will be sharing daily facts on my Facebook page, please share them as far and wide as possible, this would be HIGHLY appreciated by the Rare Disease Community. Through Rare Diseases SA I have been put in contact with other mommies whom also has kids with TS, they are my village! They understand the waves. They are such an important part of our journey. We can never thank Rare Diseases SA enough for what they do for us. If you or your company is interested in helping creating awareness, please contact me on 082 385 4743
Tuberous sclerosis, also known as tuberous sclerosis complex, is a rare genetic condition that causes mainly non-cancerous (benign) tumors to develop in different parts of the body. The tumors most often affect the brain, skin, kidneys, heart, eyes and lungs. Tuberous sclerosis is present from birth, although it may not cause obvious problems immediately.
What problems can tuberous sclerosis cause?
The tumors caused by tuberous sclerosis can result in a range of associated health problems, including:
• epilepsy – a condition that causes seizures (fits)
• learning disabilities
• behavioral problems – such as hyperactivity or an autistic spectrum disorder
• skin abnormalities – such as patches of light-colored or thickened skin, or red acne-like spots on the face
• the kidneys not working properly
• breathing difficulties
These problems can range from mild to severe, and it’s possible to have only a few of these problems or a wide range. Members of the same family may be affected very differently by tuberous sclerosis.
The Ketogenic diet
The “classic” ketogenic diet is a special high-fat, low-carbohydrate diet that helps to control seizures in some people with epilepsy. Doctors usually recommend the ketogenic diet for children whose seizures have not responded to several different seizure medicines.
– Written by Warrior Mom, Lelanie van der Merwe, a RDD2019 Ambassador
Comments