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:

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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.

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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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  • Mom to Maddie - Holly, this certainly hits close to home. Searching for an answer used to consume me for a few months, subside and then start all over again. I remember it would be a new issue that would crop up and then I'd go google it.. We finally we got our diagnosis but it was because of our common UK friends who met IRL a boy with the same diagnosis and thought Maddie looked just like him. For that I am ever eternally grateful for my internet connections. I remember the day well when I brought forth the diagnosis to our geneticist and asked if she'd test her for it.

    What I will say is that I always struggled with.."would it make a difference knowing the label".. well, it has brought closure for me. I opened a new chapter in our lives and have a strong connection to the other families with the same diagnosis. It has been life altering and Maddie has so many kiddos out there that she soooo looks like, that they are now part of our family.

    Never give up hope that you may find something..

    BTW, has Anna ever had a micro-array completed? It's newer technology that picks up tiny deletions, duplications, etc, that the FISH don't always pick up on. Our geneticist told us that it's only because of this newer technology that we have found out…

    Love to all
    AshReplyCancel

  • Mom to Maddie - BTW, I also posted to your other Way Back Wednesday earler today..ReplyCancel

  • ~Holly - Ash, you know exactly how I feel! I wonder if knowing what "it" is will help us prepare better for her future and bring us closure. Thank you for responding with such a lovely letter. Oh and yes, Anna has had the microarray… it was negative.ReplyCancel

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