I met my husband on July 20, 1996. I knew a week after we met that I would some day marry him. He was so sweet, kind and sensitive, that I couldn’t imagine ever needing anyone else. I am thirty and he is thirty-two. He has two beautiful children from a previous marriage. Kyle is eight and Nicole, otherwise known as “Niki”, is six. At first I wasn’t sure if I wanted a ready-made family, but after I met them I fell in love with them. They immediately accepted me into their lives and a family started to grow.
Everything seemed to be going great until December of 1996. I had begun trying different birth control pills. We had talked about having children, but wanted to wait until we decided to get married. I had tried several different brands of pills and never could find one that didn’t make me crazy, sick, or break out like a teenager. I just figured I had to deal with the side effects. One month I got really sick at the beginning of my cycle and I passed it off as possibly the flu. After finishing my last pill I waited for my period, as usual. A few days passed and I started noticing that my boobs were very sore. I was nauseous and very moody. I started to get nervous. I went to the store and bought a pregnancy test. When I got home I took it and it was positive. It was a faint line, but definitely a line. I started shaking and got very scared. I was thinking, “We hadn’t been together that long. What was Russell going to say?”
I don’t know why I didn’t wait until he got home, but I picked up the phone and called him. I told him that I was pregnant. He got very quiet and said, “Are you sure?” I told him that I had bought a home pregnancy test and that it was positive. He didn’t sound happy. I asked him what he thought and he said, “It probably wasn’t a good time to have a baby.” Immediately I got defensive and told him that I would have the baby on my own and that I didn’t need his help. A few minutes later he realized that I would never consider an abortion. The word “abortion” never came up, but I’m assuming that he might have been thinking about it. The conversation ended and I just sat in bed thinking. My mind was racing. I said to myself, “I want this baby. I will do this on my own if I have to.”
He came home later that evening and gave me a big hug and said, “Well, I guess we are having a baby.” I was so happy. We didn’t talk about marriage. I wasn’t even sure that I wanted to get married.
The next day I called the Doctor and he scheduled an appointment for my eight-week visit. We were really looking forward to it. We went to my mother’s house and told her. She was so happy she was finally getting a grandchild. I then went to tell my father. The first thing he said was “When are you getting married.” I told him that I wasn’t going to get married just because I was pregnant and he gave up trying after a while.
After a few happy weeks of being pregnant the dreaded day arrived. Russell and I both loaded up in the car and went for our Doctor’s appointment on February 10, 1997. When we got there the Doctor did a pelvic exam and then an ultrasound. The first thing he said was “Well, this isn’t really what I want to see.” He then asked if I could have miss-calculated my period. I told him that I didn’t think so. He said it was possible that I may have ovulated late. I was supposed to be eight weeks and there was only a six-week fetus, with no heartbeat. He ordered a Beta HCG test and told me I would need to take another forty-eight hours later. He said that if I had lost the baby he didn’t want me to have to wait another week for an ultrasound. I instantly agreed, I wouldn’t have been able to make it without knowing. The next forty-eight hours were horrible. Finally, I got the call and my HCG levels were going down. I had lost the pregnancy. I had no spotting and no warning.
We went to the hospital the next day for a D&C. My mom, Russell and my friend Terra went with me. I am so glad they were there. We hadn’t told Russell’s family yet, only because we hadn’t been together that long and we wanted to wait. There was no point in telling them now. I cried the whole time. They finally gave me something to help me relax because I was hysterical the whole time. Everyone was very supportive, but they basically said that it was normal and I could try again. That wasn’t really what I wanted to hear. I wanted to hear that they had made a mistake.
Soon after the miscarriage we got engaged and talked a lot about getting pregnant again. We tried off and on, but it wasn’t really trying, we just weren’t preventing it from happening. The wedding was planned for April 4, 1998. We were busy getting things ready and I ended up pregnant again. This time we were sure everything was going to be okay. We told my mom and a few of my friends, but no one else.
On February 5, 1998, at five weeks pregnant, I started spotting. I called Russell at work and he came home immediately and we went to the emergency room. They did an ultrasound and found nothing in my uterus. They took blood for a Beta HCG test and the results were 180, so we knew that we had been pregnant. They thought it might be ectopic, but they didn’t do anything but refer me back to my Doctor on Monday.
When I got to my Doctor’s office he did another ultrasound and found the same thing. My uterus was empty. He did another Beta HCG test. It came back the next day and it was going down, but very slowly. By this time I had really started to bleed, but he didn’t want to do surgery to see if it was ectopic because there was a chance of damaging one of my fallopian tubes. Instead, he monitored my HCG levels until they were down to 0. My wedding was two months away and we were again devastated.
We got married on April 4, 1998. It was the happiest day of our lives. The miscarriages were still in the back of our minds, so when we got back from our honeymoon we decided to make a call to my Doctor to see if there were any tests that he could run to find out if something was wrong. He said that normally they wait until after the third miscarriage to test because insurance companies usually won’t cover it and the tests are very expensive. The nurses called the insurance company anyway and they agreed to pay for the tests.
The first test was a Hystero-salpenogram (HSG) to see if my tubes were blocked or damaged. It was the most painful test I have ever had, or I had a really bad Doctor. My husband and two nurses had to hold me down. The pain was so bad I felt as though I would pass out. We got the results the next day and everything looked normal.
I was supposed to have an Endometrial Biopsy done on July 13, 1998, but when I went to the Doctor I told him that I was having pregnancy symptoms and asked if the test would hurt the baby if I went through with it. He said, “Yes, it would abort the baby.” I told him to give me a pregnancy test and he did. He said it was negative and wanted to proceed with the procedure. I looked at the test about five minutes later and it was faintly positive. I told him that I thought the test was positive and he argued with me that it wasn’t. I refused to take the biopsy and I went home. A few days later I did confirm that I was pregnant.
I called a friend of mine who works for a Gynecologist. I explained to her what was going on and come to find out the Doctor that she works for isn’t just a Gynecologist, he is a Fertility Specialist. She scheduled me an appointment with him on July 29, 1998. They did an ultrasound and said everything looked normal. There was no heartbeat yet, but I was only five weeks pregnant. I went back again on August 5, 1998 for another ultrasound. The heart was beating and we were ecstatic. We were told that there was only a 3% chance of something going wrong after a heartbeat was detected. We went home and told everyone. We thought for sure that everything would be all right this time. This just couldn’t happen again.
They still had me come in once a week for an ultrasound because of the past miscarriages. The next week we load up in the car again and went back to the Doctor. An ultrasound was done and the heart had stopped beating. I literally couldn’t believe it. There was no way this was happening to us again. We had to go home and tell everyone what had happened. The worst thing was that Russell’s family didn’t know our history with the other miscarriages, they thought it was the first one.
The comments I received, even from friends and family, were unbelievable. I was told that it wasn’t uncommon to miscarry. “It was God’s will”, and “There was something wrong with the baby.” I felt like screaming. How did they know how I felt? They didn’t. They had never had a miscarriage. The next day, I had to have another D&C. The Doctor sent us home and told us to consider having genetic testing done. We went home and cried. I just knew there was something terribly wrong.
I cried more than ever this time. I was trying to stay strong, but at that point I didn’t feel I could. My mother and Russell were the only ones who knew all of what was going on. My mother called me everyday and cried with me. Finally, we made the decision to go for the genetic testing. It took us three months to finally get the courage to go, but we went. Now they tell us we have to wait four to six weeks for the results. That was the longest month and a half of our lives. There was no question that if we had a genetic problem, who the problem was with. It could only be me. Russell has two normal, healthy children. I knew it couldn’t be him. My mother and I were trying so hard to figure it out what could be wrong with me. We don’t have any genetic defects in our family. No one else in our whole family has ever had miscarriages. My aunt had a problem with one of her pregnancies, but it was because she had a fall in her third trimester. Nothing was making since to me.
While waiting for the test results I basically cried every day. My husband didn’t know how to even talk to me anymore. I quit a good job. It was too difficult going to work and facing the world. I went into a big depression. The Doctor tried to give me something to help me get through it. I took one pill and then just threw out the whole bottle. I didn’t want to feel better at that point. I lived in my own little world and didn’t let anyone in.
During the four to six weeks that we were waiting on the test results I missed my period. I was pregnant again. All I could think was, “We can’t get happy and we can’t tell anyone.” I had recently found a web site calledBabyCenter. I met a wonderful woman named Terry who also had a miscarriage and was a great comfort to talk to. We talked every day through e-mail and she knew every little detail about my life. Finally I had someone to talk to. We are still friends to this day. She delivered a beautiful baby boy named Andrew on February 28, 1999. I remember thinking to myself how she never talked about her pregnancy. It was always what I needed to talk about. I figured she thought it would have upset me, but it wouldn’t have. She was a great friend to me and got me through a lot of rough times.
Finally the day came when I got the call. I came home and found a message on the answering machine. It was my Doctor. The results of our genetic testing were in. I caught my breath and prayed. I sat down and prepared for the worst. When he picked up the phone he told me that my husband has a genetic defect called a Balanced Trans Location. It is a condition were one of his chromosomes is cut off of one and replaced on another. All of his chromosomes are there and are normal, just reversed. I didn’t understand. “What does this mean?” The Doctor said that we have a three out of eight chance of having a normal pregnancy. He referred us to a genetic counselor and she tried to explain everything to us, but still to this day I don’t understand all of it. Below is the letter that was sent to us from the genetic counselor.
Dear Mr. and Mrs. Bear:
The purpose of this letter is to summarize your genetic counseling consultation on October 28, 1998. As you know, we met in order to discuss the chromosome results of your previous pregnancy and the parental blood chromosome studies. We are very sorry to learn of the losses of your previous pregnancies and hope that you find this information helpful.
We began by reviewing that chromosomes are the structures that carry our genes. Each chromosome contains many genes that serve as the blueprint, or instructions, for human growth and development. It is important that each person have the correct amount of genetic information for normal development to occur.
Most individuals have 46 chromosomes in each cell of their body. All of the chromosomes come in pairs. The first 22 pairs are the numbered pairs and the 23rd pair is the sex chromosomes. Women have two X-chromosomes, while men usually have an X and a Y.
When the chromosomes of your previous pregnancy were analyzed, the results indicated a 69, XXX, t (9;20)(q21.1;q11.2) chromosome pattern. This first part of the result (69, XXX) means that all of the cells had 69 chromosomes, or three complete sets of chromosomes. This diagnosis is called triploidy. The second part of the result, t (9;20)(q21.1;q11.2), indicates a rearrangement between the chromosomes #9 and #20. This is called a balanced reciprocal translocation and is designated by the letter “t”.
We began our discussion with the triploidy result. Normally, when an egg or sperm cell is being made, the chromosome pairs line up together. When the cells divide, the two resulting cells receive one copy of each chromosome from each pair. In a man, the resulting cells would both become sperm, each with 23 chromosomes. In a woman, one of these cells would become the egg to be fertilized, while the other cell is normally lost.
Occasionally, either the remaining eggs cell fails to disappear, or two sperm fertilize one egg. In either case, the resulting conception has 3 copies of each chromosome, instead of 2 copies. This is known as triploidy and is seen frequently in miscarriages. All the extra genetic information is usually to harmful to the embryo to allow the pregnancy to develop very far.
We then discussed the translocation result. Occasionally, (every 1 in 300 amniocentesis), the chromosome will show a variation in the pattern that is usually seen. In this case, the results indicate that the chromosome #9 and #20 have exchanged, or swapped, material. This type of rearrangement is called a reciprocal translocation. (Quick review of chromosome terminology: each chromosome is divided into two parts by a constriction called the centromere. The part above the centromere is called the “p” arm or short arm. The part below the centromere is called the “q” arm or long arm. Each arm is divided into numbered regions for identification.) When the laboratory identified the chromosome rearrangement between chromosome 9 and chromosome 20, it was “apparently balanced.” In other words, it appeared that all of the chromosome material was present, none were missing or extra.
This chromosome rearrangement was an accidental finding, in that it is not related to triploidy. When such an arrangement is found incidentally during prenatal diagnosis, we recommend testing the parents because often one of them will be a carrier of the same translocation, or rearrangement. The results of your blood chromosome analysis revealed that this is true in your situation. Mrs. Bear’s chromosome analysis indicated a normal female pattern, 46,XX. Mr. Bear’s chromosome analysis indicated a 46, XY, t (9;20)(q21.1;q11.2) which means that he is a carrier of the same chromosome rearrangement. Since Mr. Bear is perfectly healthy, we would expect the same for a pregnancy that carries this rearrangement.
Current medical knowledge indicates that a balanced reciprocal translocation does not affect the individual’s health in any way. A balanced translocation means that no genetic information is gained, lost, or disrupted. Therefore, individuals are not at increased risk for medical or health complications above population standards.
The only time a balanced reciprocal translocation is a concern is when an individual has children. When a carrier of a translocation produces an egg or sperm, there is an increased likelihood that the resulting egg or sperm will have too much or too little chromosome material. This can result in a pregnancy with chromosome abnormalities, or an unbalanced rearrangement of chromosomes 9 and 20. Generally, extra or missing genetic material may cause a miscarriage, a still birth, or a liveborn with birth defects and/or mental retardation.
Please keep in mind that the carrier of the balance rearrangement can also have children who do not inherit the rearranged chromosome or children who do inherit the balanced rearrangement. In either case we would expect the pregnancies to be healthy.
At the time of our meeting, we briefly discussed the options for prenatal testing in future pregnancies. In future pregnancies you may wish to consider either chronic villi sampling (CVS) or amniocentesis. Both procedures can detect or rule out chromosome rearrangements by examining the chromosomes through a microscope. Sometimes the unbalances or abnormal portion of the chromosome is too small to be seen under the microscope. Therefore, additional testing with specific chromosome probes (a technique called FISH) may be necessary.
We also discussed that other family members may carry the translocation. It is important for other family members to be aware of this information so that they may be tested if they choose. Please feel free to share this letter with your relatives. Also, I am available to answer any questions that your family members may have.
In summary, the results of the fetal chromosome studies indicated a 69, XXX, t(9;20)(q21.1;q11.2) a fetus with triploidy and a rearrangement between chromosomes 9 and 20. These two chromosome findings are unrelated. The triploidy is a sporadic event and does not increase the risk for chromosome abnormalities in future pregnancies. Mr. Bear carries the balanced reciprocal translocation. In future pregnancies, genetic counseling would be recommended to more fully explore the options of prenatal testing.
I hope that you found this information to be beneficial. Please do not hesitate to contact me if you have any further questions regarding this information.
Sincerely,
Genetic Counselor
I couldn’t believe it wasn’t me and was in complete shock. Russell has two children. How can this be? I asked the Doctor and he couldn’t really give me an explanation except that Russell’s ex-wife could have miscarried and never known it. If she miscarried before four to five weeks that is. I asked Russell about her cycles and he said he didn’t know. He was never involved with her cycles at all. If she was not on a normal cycle she may have never known that she was even pregnant. He did tell me that they never actually tried to conceive, they just didn’t protect it from happening. It was two years after they married that she actually got pregnant. Seems a little long for someone who isn’t protecting. Who knows, maybe she did have miscarriages.
We started thinking about his family. Where did this problem come from? I had never heard of his mother miscarrying or having problems. The Doctor said that back when his mother and my mother were growing up, women didn’t know they were pregnant until well after two months. She very well could have miscarried and never known it.
After consulting with the genetic counselor we found out what steps could be taken. Invetro-fertilization (IVF) with Sperm Isolation, Donor Sperm, Adoption, keep trying and hope, or don’t try at all. I told the counselor that before we got the results from the genetic testing we found out I was pregnant again. This is now the fourth pregnancy. She congratulated us and said she would pray for us.
Not long after, I started spotting. I called the Doctor and he said for us to come in. I was again right at five weeks pregnant. Before I even got to the Doctor I started bleeding heavier. He took my Beta HCG levels and did an ultrasound. By that time I had already passed my baby.
Two months later I missed my period again. I talked to Russell and we decided not to go to the Doctor until after the eighth week. I felt that if I could make it that far without spotting we would be okay. Sure enough on Christmas Eve night 1998, five weeks pregnant, I went to the bathroom and wiped. Blood. I just fell on the floor and started crying. I screamed, “No! No! No! Please, not again.” I woke Russell up and told him. He really didn’t know what to say to me. He was just very quiet. My mother was in the other room sleeping and I didn’t have the heart to wake her up to tell her. I told her Christmas morning. She was so upset. We had to go to Russell’s parents that day and pretend everything was okay. I see pictures now from that day and I was holding my niece, who was born just a month earlier. I was so miserable. Why was this happening to us? We don’t deserve this.
I called my Doctor after the holidays to let him know that I had miscarried again. He asked me if I wanted to come in for a Beta HCG test and ultrasound, but I said no. What was the point? I knew what was happening. Was it going to bring my baby back?
I finally had my period on January 23, 1999. I thought it would take much longer, but my period was here and I wanted to try again. Four weeks later I was pregnant again. I knew we should have waited the normal two to three cycles before trying again, but I was desperate. I called the Doctor and they took a Beta HCG blood test and it was only 62. Two days later it was 82. The Doctor said it looked like it never even implanted in my uterus. So again, I eventually started my bleeding and it was over. By this time I was on my sixth miscarriage. I was becoming numb. I hardly cried this time. It was like I just knew I was never going to have a baby. To me, it was all over with. I wanted to give up.
After talking with my Doctor he decided to put me on Clomid to produce more eggs. I asked why, when I didn’t seem to have a problem getting pregnant. He said basically to give you more of a chance of having one good sperm and egg. In a way I think he knew how desperate we were to have a baby. We thought it was a good idea. It was at least worth a shot. At this point I was up for anything.
On March 28, 1999 I had my period. I took Clomid on days four through eight. I went to the Doctor on day eleven and he found three follicles (eggs). I took a Beta HCG shot on day fourteen to release the eggs and then we were on our own. Now it is a waiting game. This is when I decided to collect stories for this book. I thought a book of true stories would help women realize that they are not alone.
The next two weeks went by so fast. I was advertising on the Internet for stories for the book that I was creating. I was receiving tons of responses, so I was extremely busy. It was good that I was so busy because it really kept my mind off things. My period was due on April 24, 1999, but I knew about a week before that I was pregnant again. I doubted myself because of the HCG shots I had received. I was told that they give you pregnancy symptoms.
April 24th came and my period did not. I took a home pregnancy test and it showed a strong positive. I called the nurse and asked her if she thought the HCG would cause a false positive. She said probably not, but to come in to do a blood test. The results came back the next day and I was pregnant. My HCG levels were 160. I got worried. I thought they should be much higher, but they weren’t. Now I had to go back to see if they were doubling like they should be. That was the longest two days of my life. After a long wait the results were finally in. My hormones more than doubled. We finally had a viable pregnancy.
I still was so unsure about everything. I mean six miscarriages can definitely kill your self-esteem. I just knew I would miscarry again. I had my first ultrasound at around five weeks. It showed a normal sac, but no heartbeat yet. It was still too early. I went in again at seven weeks and there it was, flickering away. My husband and I cried a sigh of relief and went home. But the fear never left. Every week we went to the Doctor. I am sure they got sick of hearing from us. But we were still so terrified.
Finally, the ninth week rolled around. After the nausea, vomiting, exhaustion, sore breasts and awful moodiness, I woke up one morning and all those symptoms were gone. I called my Doctor’s office and he was out of town. The nurses were wonderful, they understood my fear and got me an appointment two hours later with another Doctor. I went in and told the Doctor that I had lost all my symptoms. He said that sometimes it is very normal and maybe I am just lucky that they left early. I wasn’t convinced. He did the ultrasound and there he or she was, moving around and the heart was just pumping away. I guess I was really paranoid. By the way, the symptoms returned with full force a few days later, so I really wasn’t as lucky as we thought.
By this time I finally started to settle down. I had my regular appointment with my Doctor that next week, which I decided to keep instead of canceling. He did another ultrasound and we saw a ten week, five day baby swimming and kicking away. It was a beautiful sight. He released me to a regular Obstetrician and told me to keep in touch. I have a normal pregnancy and there is nothing else he can do for me. He asked me to send him pictures of the baby when he or she is born.
I think if it hadn’t been for the care of this man and his nurses we would still continue to miscarry. It never made a difference how silly my question or fear was, they would see me that same day. I remember the day I called and told the nurse I was scared. She asked, “Why.” I said, “I didn’t know, I just was really scared that something was wrong.” I had an ultrasound a few hours later. That is just the kind of office this is. It didn’t matter what it took; they were going to get us a baby. And they did. My beautiful baby girl was born January 4, 2000. Her name is Peyton Elizabeth Bear and she is my world.
A year and half later I wanted to try again but I was terrified. I went from having 6 miscarriages to having a healthy baby to infertility. For the next 6 months I tried to get pregnant and it just wasn’t happening. I went back to our reproductive endocrinologist and he put me on Clomid again. Still, I was not getting pregnant at all.
He suggested IVF so we called our insurance company and we were allowed 1 round of IVF. We decided this was it. We would try the IVF and if we didn’t get pregnant we would not try again. To make a long story much shorter, we did the IVF and we were pregnant with twins.
Brooklyn and Madison were born 12 weeks pre-mature on March 25, 2003. Although very preemie, they were healthy and thriving in the neo-natal unit. They stayed in the NICU for 9 weeks and 5 days until they finally came home to us.
Robyn Elizabeth Bear
2 Stepchildren, Kyle and Nicole
Daughter, Peyton Elizabeth, born January 4, 2000
Twin Daughters, Madison and Brooklyn Bear, born March 25, 2003
6 Baby Angels in Heaven
