Diagnosis: Osteogenesis imperfecta
By Rachel’s Momma
The hardest decision in this world is to let go of a much wanted child. Our story is simple, yet complex. It is beautiful, but horrendous at the same time.
In October 2010, we found out we were expecting our second child, due in June close to my birthday. Everything was on track. I went to my appointments, I had multiple ultrasounds, and we began to become excited about the expansion of our family. My first Level II ultrasound was completed at about 12 weeks. The doctor stated everything was OK and that we were expecting another boy. Life continued. I had planned a trip to see my sister to help her with her children while her husband was at a job training course, and I wanted to do some baby shopping, so at my last ultrasound, I asked the doctor to confirm the gender. At the appointment, he couldn’t visualize the genital area, because my baby was sitting in the lotus position (something that was very important when we finally got a diagnosis.)
He sent me to a radiologist for another scan. It was the same doctor that told us our baby was a boy. Before sending me on my way, the doctor asked me how my husband was physically disabled. I told him that it was due to an accident and the doctor seemed content with this answer. I went to radiologist and noticed that during the scan, he was quiet and not enthusiastic, like he was hiding something. I determined that he was wrong and we were expecting a girl. The look on his face made me worry. He did not look happy at all. I brushed it off and went on my 4 week trip.
When I returned, I was 26 weeks pregnant with our daughter. The day of my return, I had a check-up with my OB. During the routine scan, he looked worried and concerned. He later showed me the measurements of my baby. She was measuring at least 3 weeks behind where she should be, her legs appeared to be deformed to some extent, and he couldn’t see her hands. He recommended another ultrasound at a specialty center and I scheduled it for that afternoon. As I was crying, he told me not to worry; everything could be fixed.
At the advanced scan, the radiologist was kind and explained everything to me. The findings were devastating. First, we found her hands, but one of them was hyperflexed, along with the bones of her lower arm. She was also still sitting in the same position, like a lotus flower or the “frog-leg” position. That explained why I only felt her kick my lower left abdomen. The most horrible part was what we discovered about her legs. Both of her femurs showed multiple fractures. One leg had two fractures in the femur while the other showed what can only be described as multiple fragments, indicating at least 4 fractures. In addition, the lower legs were hyper flexed and there were possible deformities of her feet. I studied my master’s degrees in the medical field, so I asked him what possible diagnosis could produce these symptoms.
His diagnosis was Osteogenisis Imperfecta, with a remote possibility that there was a congenital skeletal dysplasia. In either case, he was positive and optimistic that everything would be ok. He even assured me that he had a neighbor with the condition, and although she was short, her children were in perfect health. This was the first of several people who painted a picture of hope when in actuality, there was none. I was devastated. I called my husband who was away working, and told him what was going on. He went out and found the best specialists in our town, and we got a quick appointment three days later.
I brought my ultrasound reports and pictures to the specialist. It took him less than ten minutes, consulting with a geneticist, to determine that my daughter had OI Type II or III. Type II is generally fatal before birth, and type III is severely debilitating during life, usually culminating with severe disability and early death. He recommended that I see some specialists in Houston, Texas, but he also said it was worth investigating terminating the pregnancy. Where I live, abortion in any form is illegal. He also explained that if she did have Type III, her life would start out with incredible medical intervention in the form of reconstructing her legs, including possibly amputating the leg with the fragmented femur. From the moment of her birth, she would suffer incredible pain, and quite possibly, a lifetime of pain for little gain. She would never be able to walk, run, or play sports. Normal school would be out of the question. Simply changing her diaper or clothing would most likely result in fractures.
My husband and I were devastated. We thought about our son at home and how his life would be affected by these things. We thought about the financial support she would need, should she even live. We thought about the currentl law where we live, which dictates that every single possible means to keep a person alive must be taken, even if that meant extending someone’s suffering for years on end. We thought about how this meant that I would never be able to go back to work. Most importantly, we thought about her suffering. I imagined my daughter having to watch her brother be able to run, play, jump, etc. I imagined her in pain every time I changed her clothes or diaper. And I imagined the pain of having to have multiple surgeries throughout her life just to have legs that looked normal, even though they probably wouldn’t be able to bear her own body weight. For me, that was the key. Money didn’t matter; suffering made all the difference in the world.
My husband and I debated, investigated, cried, prayed, and held each other for about three days. We decided to try to find someone who performed late-term abortions. Both of us are pro-life. It’s amazing how those feelings are changed when you are faced with the decision. Although we still don’t believe in abortion as a means of birth control, we decided to terminate a much wanted pregnancy in order to prevent a lifetime of suffering for our daughter. My best friend, who is a physician, was key in this process. We investigated where things could be done this late (I was at 27 weeks by then), and we found a clinic in Albuquerque, New Mexico. I contacted them, made an appointment, bought plane tickets, and reserved a hotel. The process would take about 7 days. My husband made arrangements to join me for the last 4 days. It was hard to leave my 1 year old with someone else for a week. We had to make up stories to tell family and friends, because terminating a pregnancy is something they would never understand. I got on the plane and left.
Afterward, I was taken to see a counselor who, I suppose, was to determine my sanity and confidence in the decision to terminate. I answered the questions with all honesty. The bottom line for my family was to prevent inevitable, terrible suffering for an innocent child. After the counseling session, I was given a tranquilizer and taken back to insert the first laminaria. I don’t remember much. After the insertion, a Universitarian chaplain, who also happened to be the doctor that would perform the procedure, baptized my daughter Rachel Magdalena, as they inserted a sonogram-guided needle into my belly, into my daughter’s heart, to end her pain and suffering. Although I had been given medication to help me not feel or be present in the moment, I remember it very clearly. I still have a gray dot, to the right of my belly button, where the needle went in. Her suffering was over. I was sent back to the hotel with pain medication and sedatives to try to get some sleep.
The next two days were more of the same. The day before the procedure, I was put in a recovery room with a young couple who was going through a similar situation. They decided to terminate because of a genetic disorder. Although I believe the clinic’s intention was for us to “bond” over a shared similar experience, I found it unnerving, the same way I found it unnerving to be seated in the waiting area with other women who were very early in their pregnancies and were terminating because of inconvenience. It’s not a judgment, but the purpose of our visits were polar opposites, and it tore my heart to know some of them were letting go of perfectly healthy babies.
The day of the actual procedure, my husband arrived. He did not want to be at the clinic, so he went straight to the hotel. The night before, I had experienced steady, frequent contractions 2 to 4 minutes apart for over 6 hours. Somehow, close to dawn, I managed to get some sleep. When I woke up, my water had broken, so I went straight to the clinic at 7 am. I was brought back to a small examining room where they did some last minute preparations for the procedure. As I was lying there freezing, crying, and scared to death, I heard the sounds of other women in labor. I started to freak out. I asked one of the nurses why they were crying, and she responded “because it hurts. You should think about this next time before you get pregnant again with a baby you don’t want.” I was floored. Did they not note on my chart that this was a wanted child? How could someone be so cold? Turns out, this same nurse tried to deny me additional pain medication after the procedure, and also emphasized the importance of what method of birth control I would be using in order to “prevent this from happening again.”
After waiting for a while, they removed the laminaria and started the pitocin drip to induce labor. I was taken on a gurney to an area where curtains divided the women who were laboring, but they don’t stop the sounds. I was taken over by the need to push, accompanied by labor pains. I told the nurse that I felt like I needed to go to the bathroom, and she said not to worry and just to push. That feeling was my daughter being born. It took all of 2 minutes. The placenta was delivered shortly after. As I sat there crying, I asked her about my daughter’s deformities; she responded that she was pretty bad and it would be best not to look right then. They took her away and took me to perform a D&C. Thankfully, someone else had listened to my request for additional pain medicine, and I passed out during the D&C procedure.
I woke up in the recovery area and my husband joined me. The recovery process was relatively simple, although I did bleed a lot. The recovery staff was excellent, and treated me with total respect. They commented on how well I seemed to be taking everything. In retrospect, I think it was the medication, because a week later, I was a wreck. They let my husband sit with me for a while, and then they took us into a private room to see our daughter. They brought her to us in a basket, wrapped in blankets. She was beautiful. There was a look of utter peace and tranquility on her face. She had a sprinkling of hair on her head and long, graceful fingers. The doctor mentioned to me that they had straightened her legs as best possible, but I didn’t want to see them at all. Her skin was peeling because she had spent several days in the womb after passing. My husband and I cried, they lit a candle, and we said a few prayers. Then they took her away. There would be no burial, no ceremony, no remembrance other than a small white teddy bear and a set of her hand and footprints. There were photographs taken, but my husband didn’t want to take them. I have since tried to contact the clinic to get copies and have never received a response.
After the procedure, my husband tried his best to make me enjoy our short stay in New Mexico. He took me to eat in several nice restaurants, we went to a cigar bar (his vice), and even to a national monument. I have little to no memory of these things. I have no memory of the flight home or who picked us up. I do remember getting home and seeing my little boy, and a beautiful arrangement of flowers provided by a great family friend.
My husband quickly adopted a policy of “move on quickly.” Despite this, he would not let me get rid of any of the baby clothes or accessories we had purchased for Rachel. Every time I opened my son’s closet, I encountered a flood of feelings I was trying to forget. As with my first baby, I experienced about 21 days of terrible depression. When the pain medicine and sedatives ran out, I turned to alcohol to help me sleep. My husband went back to work in another city, leaving me with a 1 year old to take care of. I did a lot of crying and a lot of drinking. One night after my son was asleep, I found myself outside sprawled on the grass asking God why. I cried some more. I doubted, albeit slightly, our decision to terminate. I kept thinking of the “what might have been.” I wondered if she would have been a fighter; if we gave up on her; and even if she felt anything while she was in the womb. It took a long time for me to realize that there was nothing I could do now but ask God for forgiveness. I started to think I was an alcoholic. I read endlessly on the subject and decided to stop drinking.
Slowly but surely, I regained my life back. My husband even asked me how long I would be like this. I told him I honestly didn’t know. In any case, it took a full 6 months for me to be able to sit down and write this without crying. I told my parents and my sister the truth about what happened, and my parents were surprisingly understanding, while my sister adopted a policy of “God will judge.”
Each holiday, each milestone of my family’s life, I think about how we were going to be a family of four. Unfortunately, I don’t know if that will ever happen now. We are trying again, but it hasn’t been easy this time, and I wonder if it isn’t meant to be. Doctors have assured us that since we don’t have a family history of OI, the odds of it happening again are very slim. I live each day knowing that I had 7 months of a beautiful pregnancy, and Rachel is not suffering. Wherever she is, I hope she is at peace.