Diagnosis: Zero Guesses

Lydia has a big chunk of duplicate matter on a chromosome. It is identified as an “interstitial duplication of 2q32.1.” The geneticist thought this might be a cause of her symptoms. To test this theory, they ran the same blood test on my husband and I. Well guess what. They found the same exact big chunk on my chromosome. What does this mean? Well since I’m fine and normal (haha), they surmise that the big chunk is NOT the cause of Lydia’s symptoms.

So it goes:

  • Muscle Eye Brain Disease (see older post here)
  • Megalocornea Mental Retardation Syndrome (see older post here)
  • Interstitial duplication of 2q32.1

There’s nothing else on the list. Not a single other guess. There are labels we can give her condition like epilepsy, encephalopathy, mental impairment. . .but these don’t get to the WHY just the what.

It all seems a bit crude. Like tugging on the end of a wire in a tangle to see which circuit is attached at other end. We tug. We say, oh look it goes over there. But that’s as far as our understanding goes. There’s no idea how to turn the circuit on and off, or even how the circuit functions.

A diagnosis is becoming less and less important to me. Not that I don’t want to know, I’m just not convinced by the field of genetics at this point in history. Leeches and tea leaves would be more useful. The last thing the geneticist advised was, “sometimes these things just happen.”

Yep. Sometimes they do.