By Myrthe Dolstra
Our Timo was born on 11/22/2016, I was exactly 37 weeks pregnant. It was a tiny man with long blond hairs. It was a lot smaller and lighter than expected, but we were not worried at the time. We were in love with our little man. After 6 months, it started to show. Timo began to miss milestones, grew slowly and began to refuse his bottles more often. Of course every child does that sometimes, and every child follows his or her own developmental line, but the feeling that something was wrong was just very strong. Timo was almost one year old when we saw a pediatrician who specializes in development issues. When she confirmed my concerns by indicating that she, too, did not consider this to be normal development, it was on the one hand as if a burden fell off my shoulders, on the other it felt as if the ground was sinking away from under my feet. I’m not kidding, something is indeed wrong. But what is it then? What’s wrong with my child?
At that moment we went into the medical mill: blood was taken for a genetic (WES) examination and unfortunately we had to make the painful decision to introduce a nasal tube. After 6 months of uncertainty, a diagnosis was made on 9 April 2018: Timo has Okur-Chung syndrome, or OCNDS. After we had looked up a few things about it, we were actually very relieved. This seemed like peanuts compared to all the doom scenarios that had gone through my mind in the last 6 months. And in all honesty: it still feels that way. We realize very well that it could have been much worse.
I am told very often that we are so good at dealing with Timo’s syndrome. Although I understand that it is meant as a compliment, I always find it special to hear. Timo is our child, of course we can handle him well. In addition, he is our first and therefore our only frame of reference at the time, for us the things we encounter are very normal. Meanwhile, Timo has a little brother, Jesse of 10 months, and we only see at close quarters how a “normal” development is progressing. Because of this I understand that outsiders think we are having a hard time with Timo. And yes: it is certainly not always that easy. Timo does not speak, is very sensitive to stimuli (which is a pretty difficult combination because he cannot explain to us how he feels), suffers from balance problems and muscle stiffness and is still dependent on tube feeding (although the nasal probe is a thing of the past, Timo is lucky) a Mic-Key button since June 2018). But the most important thing is that Timo is a sweet and cheerful man. His syndrome makes him who he is, we enjoy him immensely.
We have been very lucky that science has reached such a stage that this type of syndrome can be detected in no time and that this diagnosis came so quickly for us. But there are still a lot of questions to which we have no answer. We hope to get more answers to these questions through more research, so that we can offer Timo the best future.
#weareyou #strongertogether #oncds #earlydiagnosis #HopeIntoAction