Undiagnosed

Almost five years ago our search for a diagnosis for Bommel started with a doctor saying: “We suspect she has Down Syndrome.” It turned out that that was not the case. After many other medical detours and tests, we finally participated in the whole-exome sequencing DNA test. This test has 20 – 30% more chance of finding a diagnosis. However, in our case, no diagnosis has been found…

When Bommel was in hospital and she was taken for her first medical examinations, she was only 2,5 weeks old. I remember that with every test I whispered in her ear: “Sweetie, show the doctors what’s going on with you. Then we can help you. I love you and I am very proud of you.” Unfortunately, my whispers didn’t help. Apparently whatever is the matter with Bommel, is so very well hidden that it doesn’t get caught on any test. So, over the last few years, however weird this may sound, I have found myself thinking: “If only it had been Down Syndrome”… 

Searching is an emotional rollercoaster
Credit: Dr. Seuss
Because I found our search for a diagnosis very nerve wracking and stressful. Some diagnoses that our doctors were thinking of, had very severe consequences. It was a total emotional rollercoaster. There were times when we feared the worst. After ‘Down’ we did the Array DNA test. When no diagnosis was found, there was talk about Prader-Willi Syndrome and mitochondrial disorders (metabolic diseases). Luckily, these weren’t it either. We reviewed Kleefstra Syndrome, and then we even got a phone call asking whether or not Tycho and I were (distant) relatives. Besides the fact that we are a 100% sure that we’re not related in any way, we were relieved to hear that this question had been raised due to a ‘bug’ in the sequencing system. And now, after receiving the test results of the whole-exome sequencing DNA test, we haven’t come any closer to finding any answers. And that still has to sink in, I can tell you.

Uncertainty is our new certainty
The uncertainty that we have lived with for the last few years, has become our new certainty. After all this searching, that is the one thing that is a given. And that is not easy to deal with. We always kept hope that someday we might find a diagnosis for Bommel. That we might find something that could give us some information or a hint of what we’re dealing with. Alas… ‘Undiagnosed’, that’s what Bommel is now. 

Bommel = Bommel
The positive side to this DNA test result is that we were able to rule out, yet again, a lot of syndromes and diseases, also very serious and even life threatening illnesses. And we are very, very grateful for that! However, I do not feel relieved. Something is wrong with my little girl. Multiple things, actually. But we cannot find the cause of her ailments. No hint nor clue. Nothing. And to be able to solve ‘the nothing’ is why you participate in a DNA test in the first place. I am told that finding a diagnosis can bring peace of mind. That you can get some handle on the situation, even though every child develops in his / her own way. We have nothing. No footing.

And yet, we have everything. We have Bommel!

As Tycho said when we left the hospital, after getting the test results: “We pick up where we left off this morning. Nothing has changed.” And that’s how it is. Even though we will still experience difficult times, have ups and downs and the insecurity might eat away at us from time to time, we will continue to live by our motto. Because: when nothing is sure, everything is possible…! 

Want to read another blog? 14 things that become normal when you have a special needs child


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