An inheritance pattern bust

Back to the drawing board.

I know I shouldn’t try to beat the exome results to the punch, but this mystery is meant to be solved. As I mentioned before, my husband caught wind of a lead on a cousin who may have had similar problems (two dead babies, late term).

Turns out, it was much ado about nothing. Yes, she lost babies, but her children were not full term and had no birth defects. Doctors (15 years ago) suspected blood clots, but no additional testing was done. One baby was a boy, one was a girl.

So besides now having a person to commiserate with over dead babies (and the rest of the world that doesn’t understand the impact of dead babies on emotionally trampled mothers), I have no new information.

Square one, my friends.

I have spent several nights in the blue glow of my iPad researching Thalassemia.

What is Thalassemia?

The thalassemias are a diverse group of genetic blood diseases — the most common inherited single gene disorder in the world.

But what does this blood disorder have to do with my babies? Google thalassemia + ambiguous genitalia. Then thalassemia + micrognathia. Then thalassemia + cystic hygroma.

They all hit individually. It happens. No one study, no one Google search will bring up every one of my boys’ defects, but search for them individually and there they are.

Now, let’s discuss the BUT. (There is always, always a BUT in my genetic train of thought). If thalassemia is “the most common inherited single gene disorder in the world,” wouldn’t this have shown up in the micro array done on both boys? Wouldn’t this be one of the many things the many genetic tests would catch? Somewhere in my  late-night research I noted that there are a few “undetectable” forms of thalassemia. Could the exome find them?

The other fun, fun, fun thing about thalassemia is the inheritance pattern — it can be dominant or recessive and x-linked. It is a genetic jack-of-all-trades.

And again there is no inheritance pattern, other than the cousin’s completely unexplained losses (also noting she has two healthy children - a boy and a girl), in either of our families.

I know that I very well may get the answers I need at the end of the exome and that chasing the genetic “maybes” may be doing me more emotional harm than good.

But how do you just sit around and wait for the answer that could change your life?