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the monsters in our closet

I’ve been working for a month or so on a baby book for Carolina Grace. It’s just a scrapbook with her life verse, her ultrasound pictures, some photos of us during the pregnancy, our blog entries, pages and pages of your comments/fbs/emails of congratulations and/or sympathy, and all the cards we received in the mail. In the process I realized that I hadn’t seen everything sent to us at the time, and I was blessed to see so many words of encouragement. I went through the hardest part of my grieving process a couple weeks ago (in which I had a hard time getting up in the morning, I cried in the grocery store for no apparent reason, and I wanted to hide and feel sorry for myself), and reading the words of friends and family helped me feel less alone and sad. Another thing I realized from the time stamps of the comments is that a few of you keep some crazy hours…go get some sleep!

I think I am past the “hopeless” stage of grief now. One thing that helped me was filling my calendar with playdates and activities, so I had something concrete to look forward to each day. I think the turning point came one sleepless night when I checked in at Glory Babies, a blog about miscarriage, stillbirth, and infertility (I discovered it after James died, when the author asked to re-publish one of my blog entries). I read a recent entry describing how grief can darken our spiritual vision and sense of God’s purpose for our lives. That reminded me of John Piper’s teaching that God is at work even in the darkest of times—even when our grief and bitterness keeps us from seeing Him properly—from his awesome 4-sermon series on the book of Ruth called Sweet and Bitter Providence. So those helped me climb up out of the pit.

Thank you to everyone who prayed for the test results from Carolina Grace and our appointment with the high-risk doc. The results came in, so I met with Dr. L. and a geneticist Monday, fully prepared to hear them say, “I’m sorry, but we will just never know why this happened.”

But that’s not what they said.

First, the pathology report stated that Carolina was physically normal, just like Dora was. The karyotype showed that the chromosome counts were all normal, no missing or extra ones. The revelation came from the CGH test, which is a finer-tuned chromosome analysis that can find smaller deletions, rearrangements, and duplications. This test has only become available in the past couple years, so we didn’t have it done on Dora (our first miscarriage).

This gets technical, so the brief version is: We’re mutants!—or, Together we make mutants!—I’m not sure which. Now let me see if I can explain this. You remember from Bio 101 that each parent contributes half of the child’s chromosomes, so we each have 23 from our moms and 23 from our dads. They found that Carolina had a “loss of heterogyzosity” or LOH (also called runs of homogyzosity or ROH), which means that she had several regions in her chromosomes where the sequences from John were identical with the sequences from me. They said that normally you would find 0.5% of this occurrence, but Carolina had 3%. The regions mapped to about 80 genes.

The only identified cause of LOH is inbreeding! Straight out of a Faulknerian nightmare! But I’ve racked my brain and there’s just no way that we could be related for several generations. My family is from the South, a mixture of English, Irish, and Cherokee, and John’s are transplanted Yankees of German and Norwegian stock (update: actually both of John’s parents have English ancestors as well). According to the geneticist, scientists know there must be other causes of LOH…but they don’t know what they are.

So we don’t know how the identical sections got there, whether we really individually contributed them or whether the DNA translation/recombination process had mistakes in it, duplicating one parent instead of taking DNA from each. But we do know that LOH opens the door for autosomal recessive disorders: instead of having a bad recessive gene from one parent that is covered by the dominant healthy gene from the other parent, if there are two bad recessive genes, the recessive disorder will be expressed. So the monsters in our closet are given tickets to walk. And one of those monsters apparently makes life unsustainable for a fetus after 15 weeks.

This discovery also opens the door for the scary hypothesis that our first son James’s complex medical conditions could be multiple expressions of this same genetic problem, rather than just an isolated genetic mutation that would never happen again. In fact, it could mean that our healthy son Valor is the unusual case.

I had been worried that the docs would tell me that I had done something to cause the miscarriages; I had thought that the discovery of a genetic problem would be a relief (it would answer our questions, and it wouldn’t be my fault!). But in fact the responsibility of this revelation falls on us in unexpected ways as we plan for the future. The next step on this journey is to see if the genes affected by LOH correlate to any of the conditions James had. That meeting will happen in a few months. And hopefully from there we can get some idea of how likely we are to have another healthy child.

John and I are still exchanging questions with the geneticist and processing what this all means for our family. We are thankful to know these results, even if they are scary; as Patrick Henry said, “whatever anguish of spirit it may cost, I am willing to know the whole truth; to know the worst and to provide for it.” God’s plans for populating the House of Gjertsen have never seemed straightforward or easy, so our prayer for the next stage of our journey is that He would expose selfishness, unbelief, and bitterness and replace them with steady joy, faith, and hope. However mutated or broken we start out, we want to be true and real expressions of our Father in the end.

And we all, with unveiled face, beholding the glory of the Lord, are being transformed into the same image from one degree of glory to another. For this comes from the Lord who is the Spirit. (2 Cor. 3:18)

16 thoughts on “the monsters in our closet”

  1. Ray and I are still taking it all in, so I can imagine how you and John feel. We praise God that prayers were answered and that the doctors were able to detect an underlying issue, just as you were hoping for. We’ll continue to pray that God will lead you as He builds His magnificent House of Gjertsen!

  2. I have discovered some very interesting and surprising things while working on my family trees. One of the most fascinating and frustrating was the Cherokee branch on the tree. I have studied and done course work on the Cherokee society and have come to better understand the matrilineal aspects of the culture. You see, there is no concept of ‘cousin’ in Cherokee society. Families are related through the females. For example, I would only be related to the children of my mother’s sisters. They would be considered my brothers and sisters. I would not be related to the children of my mother’s brother. In one of the classes I took in Cherokee history, the professor made a passing reference to a study which documented there were no significant increases of children with genetic disorders born among first cousins than children of unrelated parents. As a person with a medical background I find this very difficult to believe. I have attempted to locate this study but have not been successful. My emails to the professor have not been answered. The reason I have pursued this is two fold: I have ancestors who seem to have sprung up from the dirt and there are instances of genetic disorders in my maternal family line that are unexplainable. In Cherokee society, it was not uncommon for women to have children by more than one husband. They were pretty liberal with the concepts of ‘marriage’ and ‘divorce’. Pretty much, if a Cherokee woman wanted a divorce she simply removed the belongings of her husband and set them outside the door. Upon close examination of known photographs of my maternal ancestors there is undisputeable evidence of genetic anomalys. The paper trail for these ancestors is pretty thin. I have found marginal evidence that there was marriage amoung what we would consider today first cousins. Of course, this is rampant European ruling houses of the 17th, 18th and even 19th centuries. What I have been trying to say in a complicated way is your family trees may not be as well ordered as you may think. If you wish to post my comment I certainly do not object, but for some it may seem wordy and irrelevant. I am sure genetic specialists can provide you with more conclusive information. I know I got some surprises! All that being said, you remain in my prayers. While I am unsure of many things, I am certain that God’s timing is always perfect. Your blogs have been a blessing to me and have shown me light when I am in very dark recesses. I also know God has the perfect plan. Thank you for your testimony which you have so freely shared with all us blog lurkers.

    1. That was really interesting, Margot, and thanks for sharing your research. I definitely did not know all that about the Cherokee traditions. I don’t think this particular example applies in our case because John doesn’t have any Cherokee lineage, and we have to be related to each other to explain the LOH rather than just having inbreeding in our individual backgrounds. But your general points that we probably have surprises in our family trees and that God has a perfect plan are completely applicable! I’m glad God has used our blogs to bless you and thanks for sharing your research and your encouragement in return!

  3. I’m…..trying to absorb this. I knew that there would be an explanation, but certainly not this! However, now that they know, is there any chance that y’all could do closely-monitored IVF so that your odds of having healthy babies is higher?

    Oh, and I also agree w/ you that you & Mr. John are certainly not related other than through marriage 😛

    Am now off to bed and shall keep y’all in my nightly prayers!

    1. Thanks, Ashley, for your prayers. Yes, there is a process called PGD, or pre-implantation genetic diagnostics, which would require IVF and then a testing of all the embryos to see which ones are healthy before implanting. We don’t know if that is a path that would help us yet, or whether we would do it or not, but yes, it’s an option the geneticist mentioned.

  4. Glad you were able to find something out. Early on in our beginning with Ryland there was a nonprofit called Laney Bear Care that helped us figure out what all we needed and the mom that started it had a daughter with a rare disease that was caused by the mom and dad having same genes, something like that. I still remember her telling me about it, the doctor kept asking them if they were related also but came from totally different parts of the world. They never did figure it out but didn’t go any further with it.

    You have been in my prayers alot. I can’t even imagne the pain. You have ever right to morn the loss of your children. Please know you are always in our prayers.

  5. What a journey you dear ones are on. Praying that you keep your eyes fixed on Him, the author and finisher of your faith, all the way home.

  6. Do you think there will come a time down the road that you both might sit with the idea and decide to adopt? I know a lot of people are against adoption and don’t feel it’s for them, but by putting your body and emotions through some of these trials over and over again, that can also be very unhealthy for you and your husband. I have worked with adoption agencies in two states, and there are thousands of children waiting for parents of all ages. I’ve read your blog for awhile and if your family truly wants to be fruitful and multiply, a family is what you make it. It doesn’t have to be a biological child each time. Check out http://www.adoptuskids.org for more info.

    1. Yeah, we do think about adoption. As well as having other biological children. I know it probably seems like a double standard to put our lives all out there with a public blog including information about reproductive failure and then ask that people respect our privacy; anyhow, thanks, and that’s a great link. I’d really rather that this comment space to not really be about about why we aren’t doing this or that, whether it’s adoption or IVF or whatever else.

  7. I am a natural scientist, so your situation is somehow amazing and interesting for me. I thought about this:
    You have miscarriaged two girs and born two boys. Is it possible, that the gender makes a difference in your special case? Maybe it is coincidence. Has one of you the identical section twice? That would make things even more complicated.

    I am also mother to three boys. You are in my prayers. I was so happy, when I heard of your pragnany and shocked, when it was over so very fast. I hope and pray that you will hold another healthy child in your arms one day.

    Christine

  8. Relief and frustration – so many mixed emotions that come with knowing an answer! We’re praying that your docs help you the best they can. I’m sure you have more thoughts to process than what you’re putting in the blog — more IVF with monitoring, adoption, why, how, give up, try again… If I could take some of the burden for you I would.

    The ancestry is too far removed to really cause concern, but you know for certain that at some point you and John are related. Remember Noah? Or Adam? (Hope that brought a small smile to you!)

  9. I am glad that you are getting to the truth and hope that they continue to be able to answer your questions. You have all been in my thoughts.

  10. The answer finally came…of course it was not what we all would like to hear, but at least provides a “cientific” explanation.
    I keep you in my daily prayers and hope that the next appointment provides you with even more information about this.
    Love

    Sabrina

  11. I started reading a few months before you lost your sweet baby James.
    I haven’t checked in for quite a little while and found myself recently thinking about how Valor was growing and if he had any new siblings. And here I am now, checking in and my heart is just breaking for you. Unfortunately, I don’t have any words of wisdom or anything to say that you probably have not heard before. I just want you to know how much your family has touched my heart. You are in my thoughts and prayers.

  12. My population genetics professor in college surprised me one day. He said that if you randomly selected two people of European descent, they would, on average, be no more distantly related than 5th cousins. Of course, since that’s on average, half will be more closely related.

    He explained that this should be statistically impossible given how many tens of thousands of years people have lived in Europe and how many waves of new immigrants have moved into the area. The explanation? Bubonic plague!

    The plague killed between 30 and 40% of all people from India to Iceland just 750 years ago. The resulting population bottleneck has left us descendants of plague survivors much more closely related than scientists had previously thought.

    Any of us may be much more closely related to the people around us than we realize – which may be the case with you guys. To me, this gives a whole new meaning and purpose to the idea of treating each other like brothers.

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