Way Back Wednesday, the search for a diagnosis

We spent the morning in the cardiologist’s office for an echocardiogram and EKG on Anna. The geneticist wanted to make sure the connective tissue disease we have in our family isn’t affecting her heart like mine (I have a mitral valve prolapse). The echo and EKG were normal so that is one more thing checked off the list. It made me remember when Anna was 3.5 and had started having seizures. I was wondering at that time if we should continue searching for a diagnosis… when we get a new symptom, I always struggle with this decision. How much trauma do we put Anna through and how invasive do we get in order to find out what she has? Here’s a post from 11/29/04 on iVillage’s Child Hypotonia board:


DH and I are considering opening up the diagnosis search again. Anna had another seizure on Friday (this makes 6 tonic-clonics total, 5 since the end of September). With this new label of epilepsy, it adds a new piece to the Anna puzzle. Could a geneticist now look for something that hasn’t been looked at before?

Finding an answer wouldn’t change how we are managing Anna’s care, except for the seizure control piece. (I’m going to start a separate thread about that.) It would help us know what to expect (what we all are wishing, right?) and maybe help us find more balance in our lives than we currently have.

It means that we would need to seek out someone with more experience or expertise than the folks we’ve been dealing with, because they’ve all said, “I don’t know.” It means maybe putting Anna through more invasive tests. It most likely means that we still won’t have a diagnosis at the end of it all.

Her symptoms include: epilepsy, hypotonia, microcephaly, global developmental delays, sensory integration dysfunction, high myopia (-7.5 rx), failure to thrive (resolved at age 3), feeding and sleep issues.

She has tested negative for: metabolic disease, mitochondrial disease, Rett Syndrome through MECP3 gene, Angelman Syndromethrough methylation and UBE3A sequencing, chromosome analysis, glycosylation defect, and 7-dehydrocholesterol. She has had two normal MRIs and EEGs.

I wanted to get your opinions, advice, cautions, and two cents. It seems like with the seizures happening more frequently, SOMETHING is going on, we just don’t what. Is the epilepsy a symptom of a syndrome or just plain ole epilepsy? Obviously, we need to control her seizures… more about this in my next post. I need a reality check. Thanks.

Holly and Anna, 3.5, no dx.


I have a whole slew of new tests that she’s tested negative for but I would still like to know. Thanks for reading.

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