Search This Blog

Sunday, July 11, 2010

"Going" to London!

On July 1st, our Genetics Counselor called to tell me some very exciting news -- Kaiser agreed to pay to have genetic testing done on Fireball 2! She wanted me to come in on July 6th for a meeting and to sign the final paperwork. It was easier for her to convince the Genetics Department to pay for the testing because we have a severely Factor VII deficient child. That means that the test would be more accurate because we have Niki's DNA and specific mutation to reference to. When I was pregnant with Niki the test wouldn't be as reliable (with no severe child to test from anymore) so Kaiser didn't want to pay for DNA testing in Germany.

There are no laboratories in the United States that have the technology to test for Factor VII Deficiency because it's so rare. So, this is the first time in recent history that Kaiser agreed to use a laboratory that was overseas.  I really have my Genetics Counselor to thank for all of this because she was the one that fought for our case. :)

Kaiser will extract DNA from our blood and then ship the sample to St. Thomas' Hospital Centre of Haemostasis and Thrombosis in London. In an interesting coincidence, our Genetics Counselor told me during our meeting on July 6th that she was born in that hospital. Maybe it was a sign. Who knows? Apparently it's a beautiful, historic hospital that is right across the water from Big Ben. How cool is that? Okay, well I think it's cool. If I never get to travel to Europe, at least I know that my DNA has. As a matter of fact, they (my genes) will be "living" indefinitely in London according to the UK's national guidelines for storing samples.

Actually, John and Niki's DNA will be keeping my genes company too. ;-)

I don't want to get too deep into the genetics stuff, but they're basically going to do extensive DNA testing on John, myself, and Niki. The lab's goal is to find the mutation that made John and I carriers of the FVII deficiency gene. Then they'll try to find both mutations in Niki. If all goes well and the mutations are identified in all three of us, then at around 15-20 weeks I'll be having an amniocentesis at Kaiser.

Kaiser will then obtain Fireball 2's skin cells from the amniotic fluid so they can extract DNA to ship back to London.

John has his own version of the "mutant FVII-def gene" and I have my own version. Ethan and Niki had both versions of John and I's "mutant FVII-def gene" which is why they're severely Factor VII Deficient. The amnio will positively tell us Fireball 2's FVII status. If both versions are found in Fireball 2 then that means he/she is deficient. No versions of the gene means that he/she is normal like Kev & Boo. And a single copy of either my version or John's version of the "mutant gene" means that Fireball 2 only carries the gene. We've had two "normals" and two "deficient" so we're hoping that the probability Gods will give us a carrier this time. There is a 50% chance that this baby is a carrier so it's highly likely. Carriers can only have children born with FVII Deficiency IF he/she procreates with another "mutant carrier".
"Mutant love" produced some pretty cute kids for John and I, didn't it? It sounds like we're the friggin' X-Men or something. Lol!
This was on the paperwork they sent to London. I'm guessing I'm the circle and John's the square.
2 "normal" squares (Kev and Boo), one FVII square crossed out to represent Ethan :( ,
one circle with FVII def (Niki) and the diamond with a P is Fireball 2.
On July 7th, I drew Niki's blood for her genetic tests along with her monthly lab tests. Then John and I both went to the lab to submit Niki's sample and have blood tests of our own. We had to make sure that all of  our samples went to San Jose Kaiser's Genetics Laboratory at the same time so there wouldn't be any delay in DNA extraction and shipment to London. You would be surprised with the amount of paperwork we had to submit just to get these tests done.

Niki's blood tubes. (Two of the purple tubes for genetics.)
The Lab Tech didn't listen to me when I told her to use a different vein...
She finally listened to me and used the vein I told her to and was able to get some blood.

Nevertheless, two needle sticks are totally worth the outcome of these tests results. John and I are thrilled to know that we can be better prepared for Fireball 2's arrival. If Fireball 2 is severe like Ethan and Niki, I think I'm going try and push for a C-section to avoid the possibility of a brain bleed from vaginal birth. If he/she is normal or a carrier, we're going out to celebrate!

Either way, we're happy that our 5th little lion will be joining us in a few short months. I can't wait until January 31st. :)

No comments:

Post a Comment