Now that I've got some free time...

...I can start researching more about Miles' type of DS. The Internet has been of little use. Most hospitals recycle the same article, which was written by our quasi-local geneticist. Small world. I've come across some non-medical sites, family run blogs and message boards, which have been the most insightful and inspiring, but that seems to always be the case.

Miles' type of Down Syndrome is called isochromosome. His geneticist said it was Robertsonian translocation 21; 21. And it was not inherited, according to Jesse's and my karyotypes. Technically, it becomes de novo translocation. However, I'm not sure when isochromosome was first mentioned, and I am not certain if isochromosome and de novo translocation are actually the same. But darn it, everything I've read seems to differentiate between the two forms, that the isochromosome is not the same as translocation. So why do docs keep using these terms interchangeably?

I have so many questions but no one to ask them to. Where's the translocation hotline when you need it?!? In months past, when I have asked questions to our doctors, my experience was never fulfilling. Maybe I just don't know what I want to learn. And of course there is the obvious, maybe there are questions that I am too afraid to ask and answers I don't want to hear. (I'm smart enough to realize that I can fool myself, for self-preservation's sake.)

For example, in reading up on isochromosomes, I learned that leukemia cells are structurally isochromosomes, and they are often linked to the 21st chromosome. When I asked about this correlation, I was told that there is no connection. In fact, we waited about 20 minutes for the medical team to surf the web to double check their negation- but that's where my question first came from, UGH! However, when I type in Miles' genetic (general) sequence, with the marker for the isochromosome, leukemia reports are all that I find. I'm sorry, but I have a valid concern here.

So who can I talk with? The folks at Emory University were interested in Miles' case. I am not contacting our local DNA doc because we have "graduated" (their word, not mine) from their services. Several times I've been told that it doesn't matter how we arrived to DS, once you are here, it is all the same. This summary is more of a wall to throw in the face of questions, not a comforting answer to give an inquisitive parent. To my ears, it sounds like a nice way to say "drop it."

Let me ask you this- would it be better, healthier for me to drop the matter? Just move on and deal with day-to-day aspects of translo/iso/whatever? Or should I keep true to my nature and keep asking and searching? I can't stand being spoon fed information, so all of the handouts I've gotten over the past year (all of the same article, basically) have left me back at square one. Maybe it's time I wandered around the local university's bio department and started searching through the library stacks. And readers, out in electric la-la-land, if you have a good grasp on this subject and are willing to point my eyes in the right direction, I'd love your help!

We are meeting again with the developmental pediatrician in August. Do you think I could e-mail him my questions ahead of time? Seriously- that way I could ask what I wanted to, and he would have adequate time to look up/write down the answers. Just a thought, but then again, aren't they all...