Thursday, July 18, 2013

Found 2nd Mutation

So, after Macy was diagnosed with Fanconi Anemia we started doing gene sequencing to find out the specific mutation that Macy got from me and from Adam. At the time only one was found. The one she inherited from me. That was all we needed to do PGD for the twins because they do a DNA linkage to test the embryos. They confirm my mutation, and for Adam they figure out what FANC-A gene copy Macy inherited, and detect the linked DNA markers that are associated with the FANC-A gene. Its like DNA fingerprinting.  This is used to determine the gene copy of each embryo (mutated or normal).

However, we still wanted to know what the other mutation was for many reasons. One, incase there are any gene therapy trials in the future or if they ever find a cure it would be important information to know what 2 specific mutations she has. Knowing also allows anyone in Adam's family to be tested if they want to know if they are a carrier or not. There are also certain mutations that make you more prone to certain complications, etc.

So we joined up with the National Cancer Institute out of the National Institute of Health and they sent Adam and Macy's blood samples in for specialized testing. They called today and said they were able to find the 2nd mutation in Macy that matched the one that Adam carries. My mutation is a mutation on the FANC-A gene. Adams mutation is a large deletion of part of the gene itself. This is important to know because in genetics; if they ever find a cure; more than likely it will be from finding a way to fix the gene by adding something to a deletion. We were told that it is much easier to add something to a gene that is missing, than to fix a mutated one.

This is also important to know so when the twins are born we can confirm their FA free status by sending their blood in to be tested for our 2 specific mutations instead of having to do a chromosome breakage test. 

In other news, I know most people know already but incase you missed it; we found out both of our twins are boys!!!  We are excited!!  They are both doing great so far. Twin A measuring 1 day big and Twin B measuring 4 days big!  They have been measuring 3 days apart since I was 8 weeks so they are growing very consistently so far!  Both of my placentas are in front so my Dr said that may pose a challenge for my c-section. I have to have a c-section in order for the cord blood to be collected from both babies for Macy. If they have to cut through the placentas to get to the babies I will lose a ton of blood and there is a good chance I would need a blood transfusion. However, my Dr is going to try and prevent this by upping my iron a lot before delivery. I'm not too worried about it. As long as the babies are safe and they get that cord blood; that's what's most important. 

I hope everyone is having a great summer!  We are off minivan shopping soon!!

Take care


Tuesday, July 2, 2013

Macy Hematology/Oncology blood Results

Macy had her HemOnc blood draw yesterday. Adam brought her because he had blood that needed to be drawn as well for the National Institute of Health (National Cancer Institute) for a study we are participating in. He said Macy did great, and they were able to get what they needed on the first poke! That's always a plus. When she came home she was all smiles because she was so excited about the poke toy she picked out. It was this ball with little suction cup-like suckers on the tips, and when you throw it at a window or something it lights up and flashes. She loved it! :)

They called with her results later and they were ok. Not great though. I guess I had always hoped that her counts would stay well within the normal range until she was 5 or 6?  Maybe that's just unrealistic and wishful thinking, but it stinks seeing her numbers go down over time. Like I said they are still ok, especially for someone with FA but I was hopeful they wouldn't be going down yet. 

WBC (white blood count) <--- this was the most surprising. Her WBC is always between 9-11. Nicely in the normal range. But this time it was 6.19. Which is BARELY in the normal range. Normal is 6-18. 

ANC (absolute neutrophil count) was 1070. Hers has always run a little on the low side so it wasn't too surprising. Normal is 1500 to 6000. 

Platelets-this is where we have seen the biggest drop. A year ago they were steady at 250,000. After she got sick last October her new normal was 180,000. Then she got sick back to back this spring, and now they were at 140,000. Normal is 140,000-400,000 so she is barely in the normal range now. 

Other than that Macy is doing very well. Hips are doing good, kidney is doing good, and her reflux seems to be getting better as she gets older. She drinking more water and eating more food so we have only been tubing her once a day. She's still pretty little weighing in at 22 pounds, but she will always be petite. 

As for me, it's kinda funny because you can tell when my morning sickness kicked into full swing because its July now, and our calendar on the fridge is still at May. Haha. I've been totally useless for the past 6 weeks it seems.  Poor Adam works all day, comes home and makes dinner, cleans the house, grocery shops and takes care of all of us. I'm sure he's pretty exhausted himself, but hopefully I will be feeling better soon. The weather has been soooooo nice this spring/summer. Not too hot, not too cold. In the 70's a lot, and I'm missing it!!  I'm puking the summer away, but really---I'm not complaining. It's totally worth it. 

We have decided to buy a minivan in September. It's the best way to fit 3 car seats in the vehicle and still be comfy. I never thought I'd be excited to buy a van, but I am, and they sure seem to have come a long way. The new ones don't look nearly as vanny as they use to, so that's a plus. And they actually have towing power so I think that won Adam over. 

One week from my ultrasound!!'  Should find out genders then!!!!! Can't wait. I'm still putting my money on 2 boys. 

Take care