(I have learned a LOT since I last posted, so this one is really long!)
Modern science is really quite amazing. Just as a refresher, PGD stands for “Pre-implantation Genetic Diagnosis.” This is the science where they can test an embryo before it is implanted to see if it is sick or not. The first step in all of this getting pregnant again stuff centers around getting this test built, so that as soon as we have embryos created, they can be tested right away and we will know very quickly which ones have MCADD, and which ones do not. The timing of this is very sensitive so we have to work very hard to have all of our ducks in a row from the start.
Step 1: Toothbrushes
Last post, I talked about the toothbrushes that the lab was sending us to collect our DNA samples. We were on pins and needles the day they were supposed to arrive. We were just so excited to physically do something towards this goal. I sent my parents by my house mid-afternoon when the mail arrived to see if it was in there. Nothing. They weren’t there. Bummer. We went on about the rest of the day. That evening, at about 9pm, Chris and I took Maggie for an evening walk, and wedged in the door was a FedEx package! It was addressed to us from the lab. This is it! We thought it was coming regular snail mail and didn’t expect this. We hurried up and got Maggie around the block, and then hopped into the car to go up to Woodland Park to my parent’s house. They wanted our parent’s DNA samples as well, so they sent toothbrushes for my parents in our package. They sent some out to Kansas City to Chris’s parents as well, so Chris called them on the way up the mountain. That evening, we all scrubbed our cheeks as the instructions directed, and the next day, all packages were back out on their way back to the lab through FedEx.
You swab with the brush for 30 seconds, and then stick it in the tube thing.
Just before the swabbing began. In the picture is Chris, Dad and Me.
Step 2: DVD
After the tests were sent back to the lab, in our packet of things that came (aside from the toothbrushes) was a DVD that we had to watch before we met the doctor. It walked us through the whole process. We had a pretty good handle on what was involved having researched it pretty thoroughly already. The thing that struck me was all of the parents that they talked about and interviewed all had pretty much the same story as us. They were either caring for a very sick child, or had lost one like us. It was both comforting and sad.
Step #3: Phone Consult with the Doctor
After we watched the DVD, we had a phone consultation with the doctor that runs the PGD lab we are using. In the DVD we learned that this guy was one of the ones working on the human genome project. He is also the guy who developed the PGD test. There are only three places in the country that can do this testing. He trained the other two how to do it. He is the head honcho, and his clinic does more than the other two. It was amazing to have access to him like this. He was really open and friendly, and eager to teach us as much as he could on what they were going to do. It is highly unusual for a lab to talk to patients like this. If you think about it, when you go to labs for most things, you give them your sample, and then the results are shipped to your doctor, who interprets them and tells you what you need to know. This doctor is very passionate about what he does and the people he helps and likes to be the one to teach you about what he is going to do, and answer any dumb question you may have so that your stress and anxiety over the whole thing is minimized as much as possible. He was super caring and open, and it really reinforced what a great decision we have made.
Here’s what we learned:
For our genetic issue, they have to build a probe unique to us. As he described it, genetic code is made up of four letters,that are used over and over again in various sequences. One person’s genetic code is thousands of characters long. Think of a several volume set of encyclopedias. They tell what eye color you will have, how tall you will be, your gender, etc. He equates a genetic mutation as a “molecular misspelling” of a person’s genetic code in one particular spot. The probes they build are, in a sense, genetic spell checkers that look for those misspellings. They know that MCADD is in chromosome 1 (or book 1 of the set of encyclopedias), chapter 31 of the book, in paragraph 6. The spell checker they are building for us will look for a misspelling in paragraph 6. The typo can happen anywhere within that segment of characters. Depending on what the mutation looks like in the mom and in the dad, it can vary where in that paragraph the misspelling will be. So, we can not use anyone else’s already created test. It is unique to each couple.
In addition, the timing of being able to locate the issue and report back on the health of an embryo is crucial. An embryo can only live outside of a uterus for 6 days. They have to be able to turn results around overnight. He said that they will have three PhD scientists working on our case, and they will work 17-18 hours straight through the night to get it done in time. So, having a very specific test that can find the issue quickly is key. On a fun note, our team that we have been assigned to is called the Blue Team, and they are designing and building our test, and will test our embryos as well.
Once the test is built, it will be stored at their lab for as long as we need it. This can be years and years down the road if need be. We do not have to pay storage fees. If we do more in vitro in the future, and have to test more embryos, they will have it ready for us.
They have a 2% error rate. This basically breaks down to in the last 18 years since they have been doing this, they have had 16 cases where they found an embryo to not be sick when it actually was. They have, however, never mis-diagnosed MCADD. The fact is that it is not a perfect science, and they insist on either an amniocentesis or a CVS test once I am pregnant to make sure that everything is ok.
We are going to go ahead and have them do the additional chromosomal test that looks for down syndrome, spina bifida, cystic fibroses, and a whole host of other issues. They can do all of that plus the MCADD test off of the one cell we will be sending them, and within 24 hours. That is so amazing! A year ago they couldn’t do both tests at once off of one cell, but they have within the last year figured out how to do it.
We also are going to get set up to donate our MCADD positive embryos to them for research purposes. We had initially hoped to donate them to the Children’s Hospital in Denver for their research, but they do not have the proper certifications to accept stem cells. Giving them to the PGD lab is, as we have learned, probably a better way to go anyhow. They have a really wonderful program set up that is fully funded by a grant. They have partnered with Stanford University, which is where most of the work will take place. Chris and I will sign some papers stating our intentions with our sick embryos. Stanford will then send our IVF clinic a mini-incubator that they can package our embryos in, and send them with expedited shipping via FedEx to their lab. Once they are there, they will insert a pipette into each embryo (which at this point would be maybe a dozen or so cells, and remember that an embryo can only live outside of the uterus for 6 days, so they would not survive anyways without being frozen) and extract out as many cells as they can. At this point, the embryo is no longer an embryo. It is now a collection of stem cells. They will put these stem cells into a petri dish, and be allowed to grow and divide. They grow across the dish in a 2-dimensional fashion. As they do this, the stem cells tell a story about MCADD. Scientists can study them, and use what they learn to develop a cure and/or treatment plan. At Stanford, their whole thing is getting the stem cells set up so that they can be tested. Other labs across the world can contact Stanford and request samples that they can research. For example, I know that in Paris, doctors are studying fatty acid oxidation disorders like MCADD and are testing the use of cholesterol reducing drugs to help treat the illness with great success. They could request that Stanford send them some stem cells that are affected with this illness to further their research. Our donation could be sent to them to help them along. Having been through losing Noah to this illness, I will do whatever I can to help prevent this from happening to other families. This is a “must do” in our books. Best part is that thanks to this grant, all of this will be free, and taken care of behind the scenes. Chris and I just sign a form, and transportation of our embryos to Stanford, the stem cell extraction, the shipping to laboratories and other expenses involved are all covered. Pretty awesome.
Finally, the doctor asked us to send him a picture of us for them to put in the lab where they will be working on our probe. He kindly explained that he went into medicine to help people, but in the line of work he chose, he rarely gets to meet his patients in person, and he and his colleagues really miss that part of it. They like to connect with the people they help where possible, and this is something that they do. We’re sending these two pictures…
He told us both, very emphatically I might add, that we need to watch our stress levels. It has a huge impact on our ability to create robust embryos that can withstand all that we have in store for them. That is hard considering that we are right smack in the middle of the holiday season. We are just sick for our boy, and how different this year should have been. Hearing the doctor talk about this, please forgive us if we are a little withdrawn and don’t show up to as many things as we ordinarily would. Please know that it is for the purposes of self-care, and trying to relax at home as much as possible.
They will have our test done and ready to go by mid-January. Oh my goodness! We are currently weighing out when we want to do IVF. On one hand, the most stressful time at my work is in January. On the other hand, if I can possibly avoid going through another holiday season without a child in hand my world would be a better place. If I get pregnant in January, I will have a baby by Halloween. But if I do it in January, then am I not giving us the best possible chance of being successful with my work stresses? Ugh…ruminating on that right now. None of this is easy, that is for sure!
Thanks for reading. This whole thing is information overload for sure, which is why I end up writing so darned much! We are grateful for your support.