Highest Rated Comments

colorfulpets93 karma

The comprehensive screen company that we got a flyer for when I was pregnant, tested for PEX 6, which is a gene that can cause PBD/Zellweger's from French Canadian heritage. PEX 1 is actually the most common (about 70% of cases). There are actually between 10 and 14 genes that are known to cause Zellweger's (most researchers agree on 12 genes). Unfortunately, it is a really hard disease to screen for unless you know specifically what to look for in that person (like the special IVF testing they are going through.)

colorfulpets36 karma

Oh! At work I've made several check lists for keeping track of stuff with a laminated paper. Dry erase markers work great, but the older vis-a-vis overhead projector markers are awesome! Stuff can't accidentally rub off, but wipes off easily with water/rubbing alcohol.

colorfulpets31 karma

This is so moving. I've often thought about how you must feel about Lily and if you're having a bad day, especially since I imagine it must be a stark difference to your living child. I'll try to reach out to you more often when I think of you instead of holding it inside, now that I know it's something that is needed. ❤️