KNCT1 gene deficiency and pulmonary hemorrhage.
These are not words that any parent wants to hear, but this is the diagnosis that parents Tumelo and Thandi are currently living with.
Their baby boy, two year old Kamogelo, was diagnosed with this very rare genetic disorder in December 2018, after he was born with a deficiency in a Sodium / Potassium (called KCNT1) gene that causes uncontrollable seizures.
Kamogelo has suffered from seizures since he was just two days old, when he was rushed back to the hospital. In the first six months of his life he spent just two days at home, missing out on essential family bonding time with his parents and big sister.
Kamogelo faces further developmental challenges in the form of a lack of mobility, a lack of awareness and developmental delays. He is currently fed through a tube attached to his stomach and he cannot sit, walk or even turn on his own.
Few treatment options
The trial drug quinidine helps lower the number of seizures, but he still has between 20 and 30 seizures a day.
Further treatment is difficult to come by.
As far as his parent's know there aren't any known cases in South Africa, and they have only found one other case in the world - in Utah in the USA.
There doctor Samba Reddy, from the Epilepsy Foundation, has some experience in this genetic disorder. He is a professor of neuroscience and experimental therapeutics at the Texas A&M College of Medicine in the US, and has won awards for his work in epilepsy neuroscience research.
But getting Kamogelo there is a costly exercise, and the family worked to save R100 000 to date - far short of what they need.
Kamogelo is a fighter, as he has demonstrated over the last two years, and it is this that has motivated his parents to do their best to get him the help he needs.
A miraculous recovery
Very few children with this genetic disorder live past six months of age, and Kamogelo has already miraculously come back from the brink.
In March 2019 he started bleeding from his lungs and it slowly got worse until he was coughing up blood. In December 2019 he was rushed to hospital.
After battling for two months he was put on a ventilator. Another two stressful months went by, and it seemed that it might have been the quinidine that caused the bleeding.
"It was such an emotional journey," Tumelo tells Parent24.
"Kamogelo was battling so severely that the doctor said they can't put him through so much pain. They asked us: Are you doing this for him, or for you?" he says.
"They encouraged us to sign an end of life form, as they said that being on and off a ventilator is causing him more harm than good," he shares.
After 15 long hours Thando and Tumelo left the hospital, expecting to hear the worst by morning, but by a miracle Kamogelo took a turn for the better and started breathing on his own again.
"This made us commit to doing all we can, to be able to say to him that we did our best," Tumelo says.
Looking to the future
Kamogelo still experiences seizures, he still struggles to breath, and he still bleeds through his lungs. "As much as he has fought for his life, he still has a long way to go," Tumelo says.
Mom Thandi has stopped working, to care for him full time, as the emotional toll was affecting her too much. Tumelo says he encouraged her to spend more time with Kamogelo, to bond, as she was denied this during the first years of his life.
The couple's eight-year-old daughter is struggling too, she is distraught every time little brother Kamogelo leaves for the hospital, asking "Will I ever see my brother again?"
These heartbroken parents only wish is that Kamogelo can have the best life that he, with his condition, can have.
They are currently seeking assistance to open a trust fund, and are hoping someone knowledgeable would manage it for the family.
They also hope that by raising awareness they can draw the medical fraternity's attention to this condition, with the view to conducting more research and potentially saving more children in the future.
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