Mark’s Story
Mark’s story begins when his father and I decided to try to have children. This would have been approximately 1977-1978. I was 28 and my husband was 25. I got pregnant in March of 1978. That baby would have been due around Christmas of that year. I suffered a miscarriage. There were 2 more pregnancies that ended in miscarriage. At that point genetic testing was done on the fetal remains and something was found that indicated one of us might be a balanced chromosome translocation carrier. Subsequent testing was done on my husband’s and my blood; it turned out that I carried a balanced translocation. (If one has a balanced chromosome translocation, that person has the correct amount of genetic material, but some of the material has broken off and attached to another chromosome. This can be between more than 2 chromosomes as well. The person themselves is okay. The problem comes when trying to have children as one only passes half of their chromosomes. So to have a normal baby one has to pass all of the normal chromosomes in the affected pairs or all of the abnormal ones which would produce a balanced translocation carrier.) In my case one of the chromosomes in pair 3 has too little genetic material and one of the chromosomes in pair 5 has too much. I was told at the time that a fetus carrying the monosomy (3) would be lethal, but that a fetus carrying the trisomy (5) could be live born. I subsequently found out that both could be miscarrying. Therefore, amniocentesis was recommended. In addition, I subsequently found out years later that there were 14 possible combinations of these 2 chromosomes, but at the time I was aware of 4, normal 3, 5, abnormal 3, 5, abnormal 3, normal 5, and normal 3, abnormal 5. My 4th pregnancy produced my living son who has inherited the balanced translocation.
I had 3 more miscarriages after my son was born. I then got pregnant for Mark. I was 37 at the time and would have been 38 when he was born. Chorionic Villi sampling was just starting to be done, but I opted for the amnio because I thought I would miscarry before that, and I was very confident that if I did not, the baby would be fine. I was told I had a 1 in 100 chance of something else happening, and that sounded pretty good compared to 1 in 4. The pregnancy was going great. The amnio was done in the beginning of the 2nd trimester, around 12 to 13 weeks. The weekend before I found out about Mark the Dr. called and said something was wrong. He thought the fetus probably carried the abnormal 5, odds were lightning would not have struck twice. So we sat on pins and needles for several days; I called the genetics lab numerous times to try to find something out, much to their dismay I guess. When the Dr. told me Mark had trisomy 18, I said I guess lightning did strike twice. By the way, Mark did not inherit the chromosome translocation. I am no saint, but I often wonder what I did that was so terrible that this had to happen on top of the translocation and six miscarriages. Of course, the real victim in all of this is Mark.
I have to say my Dr. was very supportive. He actually called me later to find out how I was doing. At the time he gave me the scenario of what Mark would probably suffer if I carried to term. The Dr. said why put yourself and your baby through this. So Mark’s father and I decided to terminate. We did not have access to the internet in 1986. I am so glad parents today do have access. I may have made a different decision had I had internet access, especially the trisomy 18 site. I guess I could have gone to the library. I don’t know if most people would have thought about that at that time under these circumstances. We definitely made this decision while we were in shock. I have regrets now after reading about some of the families who did not make the decision to terminate, but that is easy for me to say now not being in the moment. There are definitely many things to consider either way. The Dr. told me I could either labor or have it done surgically. I asked if I were asleep would the baby be asleep. He said yes; therefore I opted for surgical as I thought Mark would not suffer any pain that way. I since became an OB nurse and have seen many C-sections under general anesthetic, and the babies have usually come out kicking and screaming as this is usually an emergency and getting the baby out fast is a priority; so not sure that is true. After it was all over, I asked if there was anything there. I was told no which I now know definitely is not true.
There used to be a letter on the Trisomy 18 site to parents that advised them not to make any decision one way or the other while they are in shock after getting that phone call. (I hope the letter is still on the site.) Take a few days to get all the facts and options before making any decision. I think that is wonderful advice in this situation or for any reason that one might be considering terminating a pregnancy. I would also add some advice of my own. If you are having genetic testing done before any samples leave the room make sure you eyeball the labels on those samples to make sure they are correct. Also, find out how the samples are transported to the lab especially if the lab is in another location. In my case, I was told a cab couriered them to a lab which was in a different location. As far as I know, the cab driver was responsible for them until they got to the lab, and not even an employee of the hospital went with the samples to safeguard them.
I am pro-choice, but my contention is no one is pro-abortion. Everyone would prefer to avoid this situation no matter what the reason. These are a few observations I have. One issue parents in this situation are considering is what the humane thing to do is. Is what the child would suffer so great that the humane thing to do is terminate? Or if not terminated, will that child feeling some love make up for anything they might suffer? Palliative measures can be taken after birth to ease suffering. When considering humanity, maybe the parent’s humanity has to be considered too. The parents see their child, and the child dying peacefully in their arms may give the parents some comfort as well.
Of course, as we know from information on the trisomy 18 site, many of these children are stillborn. So, in that case, God makes the decision, and the parents are spared making it. Humans perform genetic testing. We revere the doctors that do these tests, but no matter how intelligent they are, and how careful they are; they are still humans, and humans are not perfect. Even though the margin of error is no doubt very small, there still have to be a few mistakes. If the parents do not terminate, they know for sure the diagnosis was right.
On the other side of things, as much as I hate to say it, financial considerations are a factor. I don’t want to get political, believe me, but if we had universal health care, cradle to grave, this might not be as much of consideration. If we are to believe the polls, more Americans are coming to this conclusion that universal healthcare is the answer. If there are other children, that is a consideration too. I thank God I knew about Mark early. I so empathize with parents who find out something is terribly wrong late in pregnancy and have to consider a late-term abortion. (I consider a late-term abortion to be one in the third trimester.) Whenever the parents are made aware something is terribly wrong with their child, the decision of what to do has to be the family’s decision. When a couple sets out to have children, no one prays for an abnormal child. No one wants to have or raise an abnormal child. What to do after parents have this information is another issue. One thought that has crossed my mind is if it had only been Downs Syndrome. I wonder how many trisomy 18 parents have had this thought.
This is a paragraph of random thoughts. My father was killed in an auto accident in the early 70’s. I have always thought of Mark as being with my Dad in heaven. When I am thinking about this, I often hear this little voice inside my head saying I forgive you Mom. I hope that voice is Mark’s and not just a crazy thought in my mind. At the time, my mother, the minister, and a couple close friends knew. We opted not to tell my in-laws. They were Catholic. I sometimes wish we had told them because I think they might have talked us out of terminating. On the other hand, they were very practical people. When I am thinking about this, the thought comes into my head that they would have told us to do what we did, almost like they were talking to me. So, all in all, I’m glad we did not tell them because they might have taken that guilt to their graves. My grandmother, who was deceased at the time, always said God doesn’t give you anything you can’t handle. I had an ultrasound picture of Mark which I’m pretty sure I threw away because I did not want anyone to know. How could I have thrown out the only picture of him I had? Now there are grandchildren. Now we and their parents grapple with when and what they should be told about the fact that they could be carriers of a balanced chromosome translocation. (At the time the grandchildren were born we knew unbalanced scenarios due to the translocation my son and I carry were probably miscarrying so genetic testing was not done; my daughter-in-law also said she was not terminating no matter what.) Certainly, they should not be told until they are old enough to understand. However, it is not fair not to tell them at all. Knowledge is power.
We certainly would have made plans differently had we known about it from the get-go. We would have started trying to have children a lot earlier because of the age factor. Different health professionals give you different answers on whether the translocation had any bearing on the trisomy 18. Some say if you have one chromosome abnormality the chromosomes aren’t as stable which puts you at risk for another. The last genetics department we talked to said it didn’t have any bearing; so who knows? These last people also said family history did not have a bearing on it. I don’t think I believe that as on my maternal side I know of 2 stillborn boys and one girl that lived only 10 minutes. All 3 mothers were over 35. Those situations sound a lot like trisomy 18. I pray our grandchildren have not inherited the translocation.
My doctor told me after a year had gone by, this might get better. I think I blocked this out for many years, but this has never gone away totally. I can’t seem to forget this. And I can never stop wondering if we did the right thing. I think this will always haunt me, but it also may have no matter what we did depending on how much Mark suffered had he been born alive. I just hope someday I can find some peace concerning my son Mark, and maybe writing Mark’s story will help.