Taking a break from the search for a diagnosis

Friday, 25 April is Undiagnosed Children’s Day

What, I can hear you say, does Undiagnosed Children’s Day have to do with you? After all, Lil Z has atypical Rett Syndrome, right? It says it on the top of your blog after all…

But, the truth is that atypical Retts is what Lil Z’s paediatrician and I have chosen to call it. We didn’t do choose the title randomly, she does tick nearly every box when it comes to Rett Syndrome or its “atypical” cousin CDKL5. But the genetic tests for both (and everything else) have come back negative. This doesn’t necessarily mean she doesn’t have it, just that it’s not showing up on her genetic tests at the moment. And that means that she doesn’t have an official, final, 100% for certain diagnosis.

A lot of people find this hard to grasp. Surely in this day and age, with all the brilliant things scientists are doing with chromosomes, it should be quite simple to figure it out? Just give them a blood sample and they’ll have the answer the next day! Ah, if only it worked like that. In reality, there is still so much we don’t know. And even what we do know can be extremely difficult to uncover if you don’t know where to look.

And, I must confess, we’ve actually taken a break from looking. We will return to the search for a diagnosis at some point in the future, but for the moment, we’ve chosen to focus on helping Lil Z to develop new skills and enjoy life, rather than going through more tests and genetics appointments. Searching for a diagnosis can be exhausting, and keep you focused on the negative rather than the positive. So for now, we’ve chosen to enjoy our little girl and not let a specific syndrome or diagnosis define her.



One response to “Taking a break from the search for a diagnosis

  1. LaRae Mercer-Wise

    If a break is what you need, i understand and have been there. Ironically, the last test my daughter under went in genetics was for Atypical Rett Syndrome as she fit so closely, but it came back negative. We were ready to take another break from testing when the geneticist mentioned one last test first and that one came back positive and gave us a diagnosis. She turned out to have CDG (Congenital Disorder of Glycosylation), a very rare disorder that many doctors have never heard of, or don’t think to test for. There is a specific test for it. The testing info can be found here http://www.cdgs.com the test is covered by insurance and turn around time is about

    Take care,



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