“Hugo was a very happy baby, a little Buddha, who reached out to everyone,” said Tom. They fully enjoyed him in a corona year. “The 11 months we had with him were the best months of our lives. We thoroughly enjoyed our dear little friend every day.” But all the while Hugo unnoticed was ill, with a very serious metabolic disease lurking in his body. On the evening of Renée's first day of maternity leave, the illness hit hard. Hugo then 11 months old had epileptic seizure that quickly worsened.
“That evening we were taken to the hospital with sirens blaring.” Hugo deteriorated rapidly and the medicines against epilepsy had no effect. The doctors put Hugo in a coma, so that his body and brain would not further be destroyed by the seizures. In the meantime, they were looking for the cause. They learnt it was Alpers syndrome, a metabolic disease for which there is no known treatment at this time. “We couldn’t believe it, we were in a university hospital, where they can fix anyone.” After 12 intense days in which Hugo alternated between very severe epileptic seizures and being was in a coma, he died.
What followed were weeks of grief and mourning, in which Tom and Renée buried Hugo. At the same time, new life was on the way, an unimaginable situation… Doctors told them that Hugo's disease was caused by a mutation in the genes of both parents of which they are both carriers “Then there is a 25 percent chance that your child will get it.” That's why the midwife took some blood from the umbilical cord for DNA testing when sister Charlie was born. “We immediately saw that Charlie was a very different person than her brother. Super fierce and strong, so energetic; she also drinks very well.”
Hugo had difficulties drinking and eating snacks. The health clinic didn’t recognize this as a result of muscle weakness, a symptom of this disease. “Only afterwards did we realize how much effort it took to feed Hugo sufficiently. He was our first child and we were often told by others that difficult eating is part of some children. Hugo had a healthy round face and was always cheerful and satisfied. Because of this, we were not seriously concerned about his health. However, we had called in a speech therapist to help us with the difficult eating. Due to the situation surrounding corona, this was done via a computer screen.”
Two weeks after Charlie's birth came the devastating diagnosis: Charlie has the same illness as her brother.... “We panicked, we screamed and cried. In addition to the tremendous sadness of losing our Hugo, we are also worried about our little Charlie.” The doctors have told them that Charlie, like Hugo, will not grow old. “Charlie is here now, so we want to enjoy and with her, give her the best life. We tell her every day she's turning 90, maybe she'll believe it herself."
Tom and Renée are mourning on a daily basis, but they are also combative. “I especially want many more people to know that these diseases exist, that children in the Netherlands still die from diseases for which there is no treatment. That's impossible!? That should and can be done differently. That is why we support Metakids for research into metabolic diseases. We do not wish what we are going through on any parent.”