Well, I googled tonight. I know, NEVER google, but I googled. I found several articles about Mosaic Translocation Down Syndrome, where the 21st chromosome is intact, but attached to another chromosome. This happens most often with chromosome 14, but there are a handful of cases that I was able to find where the 21st chromosome was attached to the 15th chromosome!!
How could I have not seen this before?! Further investigation showed me that in many cases, the affected child has an unaffected parent who passed it on to them. This means that for the last 4 years, through every MRI, blood test, genetic test, yadda yadda yadda, my little girl could simply have had and does have a rare form of Down Syndrome.
But, I'm scared. I want nothing more than to be able to have her diagnosed, figure out her condition, so that I can figure out if my younger two kids have it too, or are carriers. I want to know if Zoe has therapy opportunities out there that she's missing out on because of a lack of diagnosis. But I'm scared at the same time. I'm scared to get excited about this as a possible diagnosis. Does it sound wrong that I'm excited about a possible diagnosis for my daughter? I'm also scared that, once again, genetic testing will rule it out and we'll be back to square one.
I've emailed her geneticist to ask about this possibility. I don't want disappointment again. Zoe is happy, and I know that a diagnosis isn't going to change her. And if this isn't her diagnosis, at what point do you decide to just stop testing?
I guess I am cautiously excited at this possibility, knowing, finally, what she may have, but also saddened, because I know it means leaving behind a great group I have found with P-MS. I suppose we'll see what happens in the near future.