Sam’s Story

Feb 23, 2015 | Induction/L&D, Stories, Trisomy 18 (Edward's syndrome)

I guess someone has to be the small percent that gets the raw end of the deal and it happened to be us.

By Kim & Guy

My husband and I have been trying to conceive for some time. I had had major abdominal surgery as a teenager and there were fears of scar tissue and surgical complications. This surgery was an ominous sign to the doctor and sure enough, an HSG confirmed both my tubes were completely blocked by scar tissue. We were immediately referred to an IVF clinic for IVF and ICSI.

A fresh cycle didn’t work but in July, after an FET of 3 embryos, it was confirmed that I was pregnant. Late in August a scan confirmed that at least one hardy little embryo had taken and it appeared that the other two had been flushed out with my constant bleeding. By now, I had a lot of the typical pregnancy symptoms— constant nausea, exhaustion, constipation, and tender breasts. My doctor suggested working only half-days and bed rest the balance of the time as the bleeding was an ongoing issue.

A series of scans over the next month showed a very active embryo increasing in size but proportionally small for its gestational age. In early October I was now 13 weeks pregnant. A scan indicated narrow nuchal fold thickness and gave a low risk preliminary anticipation of Down syndrome (Trisomy 21). In spite of this, a high risk was indicated by my triple marker blood test (12% risk) for Trisomy 13 or Trisomy 18, meaning profound mental and physical disabilities considered incompatible with life.

What? What on earth is trisomy anyway?

A fetal medicine specialist called us in for an appointment, and we agreed to have a CVS test. Initial scanning led him to believe that doing CVS would be too risky as my placenta was fully posterior, and inaccessible without penetrating the amniotic sac and almost certainly causing miscarriage. An amniocentesis was scheduled in four weeks time.

An hour-long, detailed 3D scan was carried out which showed no discernible abnormalities, but lets face it, the baby would be very small making it difficult to determine all details with ease. All along I voiced my concerns that the foetus seemed unusually small but as it was always right at the bottom of the scale of average, I convinced myself that my genetic history was to blame. Now when I look back, I realize that was the second sign something was wrong.

At the next fetal medicine specialist appointment at the end of October the foetus was now 16 weeks. The doctor found it difficult to discern the baby’s nasal bones and chin again due to positioning. Even after a walk and cold drink the baby, when he flipped over, had put his hand up to obscure his face. The doctor seemed to think it was a boy—actually, all the doctors said that, and they were right too!

A son—wow!

I remember the first time I felt my baby move inside me…I was sitting having a drink with a friend on a break from work and feeling very relaxed when I felt a strange ripple like something being dragged across the inside of my tummy. At first I wasn’t sure if that was the baby moving or wind. However as the days went by I felt him move more and more until some early mornings, whilst lying in bed he would wake me with strong kicks in my nether regions. I used to hug him to myself and whisper stories about life with us and our cats and the things we would do for him when he joined our family, never realizing this was never to be. Even then, when faced with high risk results we still remained positive that it was all some dreadful mistake and our baby was just fine. I guess we just assumed because he looked OK on the scan and he was so active, he must be healthy. Wrong.

An amniocentesis at 17 and a half weeks was scheduled, along with a prior gestational scan showing that the baby was now 12.5cm long head to bum. The amnio test was carried out successfully although I noted the fluid seemed to be quite pale. The doctor asked me to stay back for another high resolution scan.

Unfortunately this scan was ultimately to signal the beginning of the end of all hope. He noticed several signs of Trisomy 18—the soft indicator, a choroid plexus cyst; inability to image either the chin or the nasal bones well; but principally the heart deformities of TVA/TGV and VSD. In addition, he was also unable to view the kidneys properly but suspected renal defects, and the hands were not open. The feet still looked fine and the legs appeared very strong and well formed. However he was also still small for his gestational age.

We were left stunned but resigned to the fact that come Monday 13 November the rapid amnio results would show Trisomy 18 (Edwards Syndrome). That is what they did show. Our precious son had a chromosomal disorder. Then we were left wondering whether the trisomy type would be full, mosaic or translocation (from a carrier). Judging by the first results it seemed that the reason was sporadic rather than inherited, however the full karyotyping would confirm this.

The next day we went back in to see another fetal medicine specialist who explained the results.We informed her that having had an indication of this we had spent the weekend researching and discussing outcomes, etc. and had decided, based on what we had learnt on the internet, that we would ask to interrupt this pregnancy. She recommended we do that.

Next we saw my obstetrician at the clinic. He also recommended ending the pregnancy immediately based on his previous experiences and knowledge, and his understanding of how stressful it would be if the baby was born at term. However, he indicated the odds of our boy making it to term would be slim and in all likelihood would he die around seven months gestation. This could cause potentially lethal medical issues for my health at such a late stage. We went to see the social counselor who had initially seen us prior to starting IVF, then went back to my doctor to do the paperwork to begin the termination as soon as possible.

My obstetrician also mentioned doing genetic diagnosis (pre-implantation genetic testing) prior to future implantation. This is an avenue we will explore for future IVF cycles. But right at this moment, we could only handle one thing at a time. I was lastly sent to have blood taken to make sure my health was OK to proceed and to cross-match for a blood transfusion.

We went home in stunned silence, complete emotional wrecks. I think the most oft used words were, “why us?” as I am sure so many couples before us have asked. But who knows why? I guess someone has to be the small percent that gets the raw end of the deal and it happened to be us. Life is not fair but then I guess why should it be? It just hurts so much though. And no guarantees it won’t happen again either. We just feel so cheated.

I checked into hospital to begin the termination on a Friday morning, the beginning of the end. A prostaglandin pessary was inserted every four hours over the next twenty hours with the cervix checked each time for dilation. Side effects of the induction drug included dizziness, sweating, chills, fever, nausea, vomiting and diarrhoea along with the violent contractions. Late that evening I had such severe contractions I thought my insides were going to rupture and I was barely coherent. I could feel my baby thrashing about inside me, obviously distressed.

My husband requested that the nurses give me an injection which helped to ease my symptoms and seemed to ease the baby as well. Sometime after midnight I ceased to feel any more movements from him—perhaps that was when he eventually died, however I wasn’t sure. All I can say is that it just broke my heart when I realized that this was it, it was all over.

Twenty-four hours after induction started, my cervix was only 3cm dilated and the decision was made to insert a laminaria tent which softens the cervix and eventually ruptures the amniotic sac. The medical officer who performed this gruesome task checked my cervix and said it had started closing up so inserting the tent was a good option. This was excruciating and left me groaning and panting in extreme pain for some time. By now I was feeling quite tired and weak from a full day of contractions. My appetite was completely gone and anything else was instantly vomited up. I was existing on sips of water interspersed with small vomits and was so dry I was gasping.

Late that afternoon, just after my husband went home to do some chores and get some dinner, I started what I only later realized were final contractions. I walked around my room unable to get into a comfortable position and spent some time leaning on a bench as the contractions swept over me in waves of agony. After an hour I was unable to bear it any longer and asked for some sort of pain relief. The nurse gave me an injection and escorted me smartly back to bed where I was told in no uncertain terms to stay, as bleeding was a real threat. Uterine rupture is not unheard of in these sorts of forced inductions, hence the standing by of blood units for transfusion.

At 6:00 PM pm right on the dot, as two friends walked through the door of my room, my waters burst. I felt firstly a slow trickle then what became a minor flood of amnio fluid pooling beneath me. The contractions were still very strong but less painful thanks to the pain relief. I began to start panting and pushing automatically as each contraction came.

Meanwhile my friend notified the nurses of my situation and shortly after, my obstetrician arrived. He swabbed me down then reached inside and without any warning twisted his arm as he rotated my baby’s head into position. It was agonizing. I howled like a wounded animal. He said the baby was half way out and he would see me later that evening down in surgery. I am not sure I believed him at the time but he was very right. By now I was in a form of a dream state…I was almost in a trance concentrating on pushing this little baby out of me.

Someone had the presence of mind to call my husband. He was on his way back to the hospital as birth was imminent. Another friend also arrived so now the room was getting cozy with three visitors, my husband, plus me perched at an angle on the bed sitting up to push with contractions and lying back to rest in between. Eventually my strength gave out and I just lay back to rest even through the contractions. By the time I eventually gave birth at 7.45 PM, I had been in continual forced labour for almost 34 hours.

I remember just lying back, eyes half closed in exhaustion, watching my husband sitting beside me, when I decided to just give one more gentle push, and out my little boy came to my quiet announcement of “Omigod, he’s here…”

My friend rushed to tell the nurse who hurried straight in to tell me not to push any longer as placental tearing and bleeding was still an issue. So I retained the placenta until I went to surgery at 10:00 PM to be cleaned out and have it carefully removed. And in the process avoided myself a blood transfusion and retained a very much intact uterus, much to my relief.

Before surgery I asked to spend some time with my dead son so he was washed and placed naked in a large, cloth-lined kidney dish. He was only about 22cm long, 9cm of which seemed to be his legs. He had amazingly long, well-formed legs and perfect little feet with tiny little toenails. He was still quite pink so perhaps he hadn’t died the previous night after all. I wish I could have been able to tell, but probably I will never know. He had some problems that were obvious signs of Trisomy 18 but to me he was still my beautiful boy, a tiny little China doll. I just held him, gazed at him and stroked him for as long as I could. My husband later commented that I seemed not to be sad, and I wasn’t. I was just happy I could be with him to say goodbye.

Our son was only 18wks and 4days when he died on Saturday 18 November 2006 but he is much loved.

RIP Sam.

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