Genetics

Yesterday, we had an appointment for the kids with the Genetics department at the Children's Hospital to discuss the kids' puffy foot condition and the possibility that they have Congenital Primary Lymphedema, aka Milroy's Disease.

It takes 4-6 months to get an appointment with Genetics, and I've had to delay ours twice due to (a) broken ankle and (b) work commitments.  But we finally made it.  We ended up showing up apparently an hour late, even though I had confirmed the appointment time twice with them...

The appointment was two parts.  We first spoke to a genetic counselor and a graduate student who took a detailed family history.  I had typed up a document with all the stories relayed to my by my father-in-law of family members who had had some kind of puffy lower extremity and even drawn my own family tree, but it turned out they wanted to draw their own.  The also wanted to take family history from my side of the family, to get a "complete genetic picture," in case there are related conditions that could come into play.  They told us a lot of things we already knew - dominant trait, 50% chance of each child having it, etc. etc.

Then in the second part, the geneticist (an MD) came in and did a physical exam on both of the kids, but mostly Andrew, because he could do more gross motor stuff like chase a bouncy ball around the room.  She was great!  The exam felt to him just like playtime!  After she did a total body examination, she made some notes, then looked me straight in the eye and said, "I think you are right.  I think it's Milroy's."  Validation!

They know which chromosome that the Milroy's mutation resides on 70% of the time (30% of the time it's somewhere else).  So the doc is recommending a blood test to isolate that section of DNA.  Because the mutation can live somewhere else, there's a 30% chance of getting a false negative.  But if we got a negative result, we might take a look at some other conditions it might be.

We aren't entirely sure that we'll do the test yet, as we're not sure what the cost will be.