little snag --> big blip

little snag --> big blip --> shugamuggies! (a local term according to todd, tho i've never heard this before in my life) ;)

(WARNING - lots of boring technical science stuff, it's okay to stop reading here)

So here is the PGD elaboration on why our little snag has turned into a 12 week big blip of a shugamuggie. (i'm going to use this word a lot now, i like how it sounds)

• Fact 1: I'm an RB1 (retinoblastoma gene) carrier.

• Fact 2: If our baby inherits the RB1 gene (50/50 chance of it) there is a 99.7% chance of penetrence meaning they will get it too (cecily is a weirdo anomaly, not that that was really news to anyone...hee hee...but she's an RB1 carrier who did NOT get cancer, so anomaly and lucky to boot)...oh and inherited retinoblastoma also carries a 60% chance of it being bilateral. :[
  
• Fact 3: Preimplantation Genetic Diagnosis can determine whether or not the fertilized embryos are carriers, so that we are only implanted with 'non-carriers'

Pretty easy right? Well turns out that last one is a doozy. What happens is they fertilize my egg, with Rye's sperm. 24 hours later it goes from 1 -> 2 -> 4 -> 8 cells. They then biopsy one of those 8 cells on the 2nd day and overnight them super fast to New Jersey (yes we've found a lab!).

Here's where the SUPER complicated part starts. Because they only have one itty bitty (super understatement) cell to work with they need to duplicate it's gene-code. While duplicating the gene-code there can be super small errors. Errors that may result in deletions of certain frames. This would be bad because what they're looking for is a specific frameshift mutation that both Cec and I have which in our case means you're an RB1 carrier and if some frames are deleted on the duplicated gene-code then it may test negative for RB1 even if the embryo is a carrier. Make sense? (i had to read the sentence over again to make sure i had it right)

So... in order to account for the possibility of those errors it would really help 1) to know which parent we inherited it from and 2) to match our parents DNA, Cecily's DNA and my DNA all together so they can compare all the chromosomes and pairs, some of the linkages and frames and make sure they're not missing anything.

Pretty surreal.

So what happens now? Dad is completing his genetics test to see if he's a carrier. (the odd and complicated part being, neither dad OR mom might be an actual carrier-as in RB1 is not written on their gene-code since neither of them had it, it may just be on their gonadal cells) Both Cec and Dad are being sent cheek swab kits to take samples of their DNA. Ryan and I will give blood samples. And from all of that they'll create a panel of tests to be able to screen our single cell biopsies to determine if they're RB1 carriers. 3 weeks from the time they receive our labs till they can give us any updates and then about 8-9 weeks to create the panels and tests.

WHEW.

any questions? ;) hope you enjoyed the genetics lesson of the day. anyone still awake?


definitely learning something new everyday,

stace

perspective...

thanks for the supportive emails, texts and messages...the day has brought perspective as i knew it would...as well as a couple bouts of tears...

3 months i know doesn't seem like a long time in the broad scope and range of things...it was just that it seemed like such a step back versus a step forward...and on top of the emotions and disappointment a long with that...came the more realistic problem of insurance coverage.

my insurance changes involuntarily in January (political garbage) which means we know longer know what or if it will be covered since we may be half way through the process. we were also hoping that with the change in insurance companies, since it's legally required to cover IVF at least once in Hawaii per carrier, that Ryan and I could use it as a backup shot at another IVF go if we needed it...(perhaps baby #2 years down the line? or worst case scenerio attempt #2).

but we're still grateful that we have the option at all, and if it means having an RB1 free baby any amount of waiting is worth it to get the testing done accurately. (more on the issues with that later)

meanwhile...as Rye has always said, why be normal when you can be different? and so I guess for us, why take the short way, when you can take the long complicated, windy route instead? :)

...sometimes the windy routes are more scenic.

trying to take the bumps in stride,
stace

not good news

ever wonder why things have to be so complicated sometimes?

we're at least another 12 weeks out. got off the phone with genetics company bout 20 minutes ago and just scanned and sent all of our reports...will explain later when i'm not trying not to cry.

:(

oh the joy...

oh the joy of going through puberty again AND hitting middle age at the same time. (hee hee...does 35 count as middle age?)

wonderful side effect of BCPs have been monstrous pimples on my forehead....WHILE simultaneously breaking out into hundreds of white hairs (pretty sure not a side effect of BCPs, just a wonderful symptom of turning 35).

Oh the joy. ;)

gracefully aging into adolescence,

stace

PS...no news on the schedule, finally got a lab referral though, NJ time means hopefully getting a hold of them before I leave for work at 6 tomorrow...hopefully some news soon!

pigs fly! pigs fly!

pigs continue to fly about here in Honolulu.

Not only has it been a full WEEK of blog updates, but I BAKED today!!! Good lord I actually put something in the oven and made something yummy come out!!


apparently miracles do happen,
stace

PS....sorry, no IVF update today...still waiting ;)

Happy Birthday Aunty Pat! :)

little snag

So we've hit a little snag (and we haven't even started yet!).

Part of the IVF process for Rye and I, since I'm a RB1 (retinoblastoma gene) carrier, is that we'll be going through the process of Preimplantation Genetic Diagnosis. It allows us to test the embryo after it's been fertilized to see whether Ryan's gene's won out or mine did, and implant only those that are not RB1 carriers.

Pretty amazing. (especially considering they take a 1 cell biopsy from an 8 cell embryo)

The snag we hit is that apparently the PGD test for RB1 isn't common enough for the regular labs to do this yet, not your normal labs in Hawaii (several of which actually do inhouse PGD), not your normal labs on the West Coast (that they use for more complicated tests)...apparently, there might be a lab that they will do a PGD test for RB1 in Chicago...but it takes more paperwork, setting up accounts, jumping through some sort of complicated hoops...

and that's why are schedule is on hold.

So we wait. ;) And I learn to be patient and not to have to have a set schedule at this very moment. (but i'll let you know as soon as I do!)

Thanks for checking in.

love,
stace