Factor X Deficiency and the Duffys

Today was the day we finally got to meet with Dr. Michael Tarantino. He is the medical director for the Illinois Blood Clotting Disorder Institute. He came in to see and treat Isabelle when she arrived at Children's Hospital. He had ordered several tests for all of us. He checked our PT and PTT (these are both tests that check the time it takes your blood to clot) and he checked the Factor X levels on all of us. We already knew that Abbey's PT was elevated, meaning that her blood wasn't clotting as quickly as it should. We had not heard about any of the Factor X levels.
We had many questions for him, some we had already emailed, and some more that we were waiting to ask. We wanted to know if Izzy's had been inherited, if so then did that mean we had a greater chance of seeing this repeat in any future children, either us or Maddy and Abbey's. We wanted to know if Izzy could have been saved if this had been caught sooner. We wanted to know if this was something that you can live a very long time with.
The low end of a normal Factor X deficiency is 70%. Dan is 81%. I am 61%. Abbey is
50%. This means that we are both Factor X deficient but to a far less degree than Izzy. She was born lacking Factor X completely. The fact that we have 2 children affected bythis disorder makes Dr. T think that we both carry the gene, but the fact that Dan's level is normal (when he said this Dan got very excited because someone called him normal) has him a little stumped. Because we do have 2 children affected means that not only do I have the disorder, I carry the gene. What is not clear is how we could have 2 children affected if he doesn't carry the gene also. That will require further testing. It is possible that I passed on the gene, but in order for Izzy to have had such a severe deficiency she also had to have some spontaneous mutation of that gene.
Factor X deficiency even in a case as severe as Izzy's is treatable. Had we known to investigate further into her heel prick bleeding, or her umbilical stump bleeding, we could have saved her. By the time her symptoms became urgent, she was bleeding too heavily to save. The brain hemorrhage was the actual cause of death, the Factor X deficiency was the cause of the hemorrhage.
Mild Factor X deficiency, as Abbey and I have, needs only be monitored closely. Dr. Tarantino will coordinate all of our medical and dental care from here on. Should we have to have any procedures done, we will receive some Factor X before hand. When you have a low level of Factor X, any shock or trauma to the body can cause the production of Factor X to decrease which would keep your blood from clotting at all. Obviously not something you want to happen during or after surgery or trauma. We will be wearing medic alert bracelets from now on, and everyone will have Dr. Tarantino's number. Should anything happen, he will coordinate with our Dr's or the ER what our treatment must include.
As for any future children in our family. If we both carried the gene, then every child we had would have a 25% chance of having no Factor X deficiency, a 25% chance of having a severe Factor X deficiency like Izzy, and a 50% chance of having mild Factor X deficiency like Abbey. However, since Dan does not have a Factor X deficiency, we don't have any greater chance of having a baby with severe Factor X deficiency than the general population. We do however have a greater chance of having a baby with the milder form.
Should we have more children, or when the girls have children, they would be born in Peoria, (or somewhere with the proper facilities) where Dr. Tarantino would be able to test the baby immediately upon delivery with the lab on alert so we could get the results immediately. Then we could act accordingly. Even if we were unfortunate enough to have a baby with the severe form, it is treated in much the same way as hemophilia. While Factor X is still not being artificially manufactured like Factor VII or Factor IX, it is available as a live blood product received as donated blood. There is a British company that is very close to being able to artificially produce Factor X, which would make it much more available.
Living with Factor X deficiency doesn't require any limits of activities, except contact sports like hockey or football. So there goes Abbey's dreams of being an NFL linebacker. But as long as we communicate with all our Dr's and keep Dr. Tarantino informed and they all work together, this really is very insignificant compared to some disorders other people have to live with.
It's very hard to balance, my relief that Abbey will be okay, and knowing that should we choose to we can have more children, with the knowledge that Izzy could have been saved. Especially since deep down, her heel prick and umbilical cord made me very uneasy. My gut kept telling me something was not right, but I allowed myself to be talked out my concerns. That will never happen again. I will never again worry about coming across as a crazy hypochondriac parent. I am trying not to drive myself crazy with the "What if's?" but it's very hard not to.