Friday, July 10, 2009

Trisomy 18

(I'm bringing this old post back up top because it is one that keeps getting comments as people who struggle with Trisomy 18 search for answers and community)
Warning: In spite of the scientific title, there won't be much science here. However, this is a sad story with gross details, so don't read it if you're squeamish.


Tarik and Caroline were having their second child. Their first was a healthy toddling boy, a lovely combination of their two cultures. Tarik and Caroline were both young, both healthy, responsible professionals on their way up. Naturally, therefore, they got in to the clinic early in the pregnancy. I was the lucky Family Practice resident that "picked them up". I'd get to see Caroline for her prenatal visits, checking her blood pressure, urine, weight and measurements to make sure all was progressing normally. I'd be the one to find the first heartbeat for her, to feel the baby's growth at each visit, to marvel with her as baby rolled and kicked inside her, to advise her about diet and exercise. Routine stuff. We'd meet every month at first, then with increasing frequency near the end. At her 36th week (out of 40 full term pregnancy weeks) I'd turn my pager on 24/7 for her, so that I'd be able to deliver the baby whenever she went into labor.

I loved OB. The miracle of a human baby growing inside another human never failed to fill me with awe. We think we're such hot stuff, such modern, technological super-beings. Our lives are filled with devices, with increasing automation and mechanical sophistication. But when it comes to bearing children, we're animals all the way. What is more bestial, more natural, than growing your young inside you, pushing them out with blood and tears, and nursing them at your teat? We in medicine do our best to technologize this experience with beeping gadgets, powerful medicines and invasive procedures. But at the core, nature is in control, a fact that charges the labor and delivery wards with excitement and fear. Birth can be a miraculous, happy event, and usually is. But it can also be a terrible tragedy, anticipation turning to anguish at the last minute.

Round about Caroline's 15th week, her uterus began to measure bigger than it should. We weren't alarmed at first. Could be mis-measurement. Could be a big kid. Could be twins...twins? There were twins in the family background. Hmmm. Since the large size persisted, we decided to get an ultrasound. Nowadays just about every pregnant woman gets an ultrasound routinely, but back then (a long 17 years ago) we had to have a reason.

By the time she got the scan, she was at 17 weeks. By then, the embryo has become an infant, fully formed but small, with weeks of differentiation behind it and weeks of growth ahead. The scans are highly sensitive, able to discern organs clearly.

There was something wrong with Caroline's infant. The heart didn't look right. There weren't four distinct, regular chambers. Further testing was advised. I met with Caroline and Tarik, gave them what scanty information I had, tried to reassure them or at least postpone panic, and suggested an amniocentesis. We didn't know what the problem was, exactly, or how bad it was. Some congenital heart defects are fixable by the surgeons. Some are not. Some are associated with chromosomal abnormalities, which is why the amnio was recommended. More frightened about the infant's condition than about having an 8" needle stuck in her belly, Caroline agreed.

If you watch crime shows on TV, you probably think that DNA results are available just as soon as the patient gets up off the table. Not so. Caroline and Tarik had to wait two agonizing weeks to discover what they were dreading to know.

The baby had Trisomy 18. An extra chromosome. Three of the #18 chromosome instead of two. Well, so what? Sounds pretty benign. After all, we have what, 46 all together? What's one extra chromosome among friends? Well, it turns out that one little #18 chromosome has more power than all the others put together. It is a tiny tornado, packing a destructive force stronger than life itself.

Half of all babies born with this condition die in the first week of life. 90% of them have heart defects. Most of them have other defects as well, including spina bifida, cleft palate, deafness, joint contractures, and mental retardation. Only an unlucky few survive beyond a matter of weeks, and those don't last much longer. The term that is branded in my brain from our meeting with the genetic counselors is "incompatible with life". Caroline was carrying a child that was incompatible with life. As soon as it hit the outside air, it would begin to die. She. "It" was a she. They could tell that from the genetic analysis too, of course.
She was doomed.

After listening, reading, thinking, talking and crying together, Caroline and Tarik told me they decided to terminate the pregnancy. They couldn't face the thought of birthing a baby girl only to watch her die in agony. This was the right decision. I had no doubt, and nor did they. I offered to accompany them to the procedure, and they gratefully accepted.

They went to one of the local abortion clinics for this procedure. The doc there was very experienced in terminations at all stages of pregnancy, though of course most were done much earlier. By chance and good luck, there were no protesters outside the clinic that day. I was prepared to give them a piece of my mind if there were any. Caroline was not the typical abortion patient, and did not deserve to be hassled.

Without much delay, we were shown into the procedure room. Tarik was told to wait in the waiting room, per clinic protocol, making us all glad I had come along. The staff was kind and efficient, helping Caroline gently onto the table, talking in soft voices, explaining and reassuring. Caroline tolerated the procedure very well, holding my hand tightly and breathing deeply as the obstetrician dilated her cervix and removed the infant. Caroline didn't cry, not then.

A termination at 21 weeks is very different from one at 7 or 8 weeks, the usual time an "elective abortion" is done. The early abortions are done with suction, and the "products" just look like so much bloody mush. At 21 weeks, there are organs. There are limbs. There are bones. And the procedure is done not by suction, but by "extraction." Fortunately, Caroline and Tarik were forbidden to look at what was left of their defective baby girl. But I, as a medical provider, was invited into the side room to further my medical education. I had to steel myself, calm my heart, open my scientist mind.

Her little blue hand, curled and lifeless on the surgical towel, is forever wrapped around a tender neuron in my brain. As I looked at the pieces of this ruined life, what I felt was not revulsion or nausea, but a deep sorrow. I knew this was the right choice, the right decision for these parents and for the mutant child, for that's what she was. It was the humane, loving choice for all involved. But that didn't make it easy.

Aching in the depths of my heart, I returned to Caroline. She was resting in recovery now, out of the stirrups, and Tarik was with her. I tried my best to push my own feelings down deep, to put on my doctor face and stay calm. But when Caroline opened her arms for a hug, my humanity came crashing in, and my tears fell with hers.


50 comments:

Virginia said...

Your moving description made me cry too.

peg said...

Thanks, Virginia.

It's nice to know someone is reading this stuff.

Peg

Heather said...

That is a beautiful story. Nice to know you didn't lose your humanness in become a doctor.

pegadoc said...

Thanks, Heather. You're very kind. Thanks for reading and commenting.

Doctors are all human. Don't let 'em tell ya different. Some of them/us forget it from time to time, but they/we are.

You know what? Since I put words to that particular memory, I've found out that two of my friends had the same thing! It affects about one in 3000 pregnancies.

Peg
(I also post as "pegadoc" - changing over)

anafaran said...

ALLO Dr. Pegger,
I have that quote from the Greek Heraclitus I promised to post.
I thought it was apropos to the story you wrote about the couple anguishing over their baby who would be incompatible with life. That would be a tough pill to swallow for young parents.
It is not good
for all your wishes
to be fulfilled:
Through sickness
you recognise
the value of health,
through evil,
the value of good,
through hunger-
satisfaction,
through exertion
the value of rest.

pegadoc said...

Thanks for the Heraclitus quote, anafaran. That dude believed in suffering, didn't he? I've lived long enough to know that suffering brings wisdom, and that pain can not be avoided in life, and that we appreciate what we have more when we've gone without it.

Anonymous said...

I'm sitting here in my living room feeling like the bottom has dropped out after reading this story that is so similar to my own.

Three months ago I was happily pregnant with my second child. Then my NT scan results came back with a 1 in 5 shot for trisomy 18, and an amnio confirmed the diagnosis a few weeks later. I also had a complete placenta previa, just to make the situation more complicated. Ultimately I chose to terminate the pregnancy.

I had seen my daughter in the level 2 ultrasound scan that is part of the amnio appointment. I looked at her deformed little fists and her tiny, mishapen heart and barely-there kidneys. She was all wrong, but very much a real person despite that -- MY person. I loved her. I love her.

I had a couple very crappy options in front of me and I chose the one that seemed the least terrible for the baby, me, and the rest of my family. But now I exist in the no-man's land between the radicals who think I shouldn't be troubled by what I did because it was just a blob of cells, and the zealots who say I'm going to burn in hell for murder.

I guess I just wanted to say that it was nice to hear somebody describe something close to how I feel about my situation. My abortion was both a blessing and a tragedy. To try to make it one thing but not the other simply deflates all reality from the issue. And that's completely pointless, since you don't get any more real-world than this.

Anonymous said...

All right - you made me cry too, remembering my own 13 years ago. She had Trisomy 18 and I also elected to have an abortion. Thankfully the hospital where the procedure was done was so terrific. I went through labor and got to hold her afterward. The nurses were just super. And the funeral home by the hospital donated the cremation and I bought an urn for her ashes. I can say that whole procedure helped so much dealing with the grief. There was a booklet I read that was instrumental in saying that I could choose what I wanted to do. I even had her baptized. Thanks for sharing and a note to anonymous - I totally understand about the blessing/tragedy thing. Each year on that day I think to myself she would have been x years old today. But I think she's in a better place - I named her after my mother and grandmother who also are in heaven so I like to think they're taking care of her until I get there.

peg said...

anonymouses (anonymice?) - Thank you so much for sharing your experiences here. Trisomy 18 is 1/6 as common as Down's, which means it's pretty darn common, as you two gals can attest. Anon1 - your description of feeling caught between two viewpoints is so right-on. The truth is you do have a foot in both, but reality isn't either one alone.

Anon2 - Sounds like you had as good an experience as one can have with this kind of thing.

My condolences and thanks to you both.

Peg

Stacy said...

this is moving beyond words... especially as I await a Level II sonogram to explore bilateral choroid plexus cysts on my own babies brain. Trisomy 18 has been mentioned, and my heart is breaking with that consideration. With a very ill feeling, I thank you for this information - yet, everything in me hopes that we are spared this fate.

Peg Spencer, MD said...

Stacy - my prayers are with you and your baby.
Peg

Tad Thompson said...

Peg:

I know a young couple who went through this situation, but with a different outcome. Please look at this video at

www.youtube.com/watch?v=th6Njr-qkq0

This is an inspiring story about a young boy who lived 99 with trisomy 18...His parents did not think of him and a mutant. I do write this as an activist, but as one who thinks that life is not always so cut and dry and sometimes choices that seem right, are not the right choices at all. Just check it out. If you have a reponse...please feel free to email it to me at tadt@habc.net Thanks.

Mrs. Mother said...

You made me cry. I just lost my precious baby girl, Jenna Grace, to Trisomy 18 last week. We wanted to terminate and tried to, but because of some mistakes on the part of the clinic, we weren't able to.

So, we decided to let nature take its course. She lived for 20 weeks and 5 days. I did get to hold her and see that she would never have been able to survive.

My doctor has also been wonderful throughout all of this, and I'm thankful that doctors like her and you exist for the women who need them.

Anonymous said...

I have found myself online again grieving a baby boy that I never got to hold. And by chance I came across your article about your experience with Caroline and Tarak and the tragic story of their second child. I just wanted to say, how glad I am that you posted your account, and how fortunate Caroline was to have a DR who showed empathy and concern for their plight.

I too had a baby with confirmed trisomy 18, he would have been 7 in October. I also found myself in the heart wrenching situation that your two anonymous repliers(?) outlined. I new I was pregnant at 6 weeks, and because of a miscarriage 4 months earlier, was very anxious and concerned, I had a scan at 6 weeks, and saw a tiny fetal pole but not that tiny beating heart, my Dr agreed that I could return the following week for piece of mind, that week showed a fluid filled sac next to my tiny baby, and he thought it might not be viable, so back I came the next week, at 8 weeks, the fluid sac had disappeared and there was a gorgeous little heart beating away- but after a couple of minutes, I could see my Dr looking closely at the monitor, I was doing the same and finally asked what I was seeing two of- there were two tiny beating hearts on the monitor- and when he confirmed twins- my husband and myself were elated. I felt we had been blessed with two and that somehow our lost baby was being returned to us. I know that sounds crazy but we really felt blessed. We watched our twins grow and listened to their heartbeats, one did look smaller but the dr said that that often happened with twins. At 12 weeks our Ob sent us to a specialist to have a nuchal translucency and other measurements etc- all non-invasive. We were never ready for the results and still find it difficult to reflect back on. T1 had a nuchal translucency of 2.8, higher than normal, T2 had a nuchal fold of 7.5, we were left on that table for half an hour and then the specialist saw us and gave us all these statistics about what could be wrong with my babies.. Our heads were spinning, we were just on 13 weeks. He suggested a cvs there and then- and then gave me more statistics on what that could do to my babies- by then I was in shock, I was hyperventilating, vomitting and trying to wake from my nightmare. I called my Ob, he suggested we have the cvs, it went against all my beliefs and I was just so scared that I was jeopardising my babies lives- but we had to know what we were dealing with and we were hoping that we could save both our babies. The CVS was horrible and even now the smell of sterile Dr.s rooms brings awful memories flooding back. We had to wait 7 days for the karyotypes to be mapped, they were worried that they had got placenta samples from the same baby as the placentas were both high and appeared to overlap. We got our phonecall the following week, my ob simple said that one baby was normal and the other had “a chromosomal abnormality incompatable with life”- at that time we hadn’t heard of trisomy 18, being na├»ve as I was, I still thought they could be wrong and that I could love those babies so much that it would fix it.

The following week our ob- said he felt that a twin complication wasn’t his specialty and that we find another ob, we spent a week searching and researching and then drove for 13 hours to another state to finally see another ob/gyn who specialised in complicated multiple births. By now we were desperate, he confirmed all we had learnt and pointed out a lot of the associated features on a scan. Our little boy was already struggling, and now our Daughter was in jeopardy if I miscarried now- we could lose both, if I could get to 26 weeks they could save her, but I was carrying more fluid than normal and each week further into my pg the bigger the chance of losing both if our son passed away. The ob/gyn suggested selective reduction- the thought of terminating my sons life was horrendous to me, and the thought of letting fate take its course and losing my daughter was just as horrendous. We were in another state, a long way from home, with a two year old, and a massive dilemma- morally I was opposed to abortion, and although I would never force my opinion on others, I never thought I would contemplate terminating the life of my child- we looked at every possibility, what quality of life would he have if he survived pregnancy, what threat did he pose to his twin. The entire situation was a nightmare- whatever way I went it was scarey- all we wanted was two healthy babies, and so many people we having babies they didn’t want- and here we were wanting this more than anything and having to make a decision that was against everything I ever believed. Finally a week later we admitted ourselves to a clinic at the hospital and my new ob terminated that precious little life. I think that time was the lowest time of my life- I felt so guilty and sad and so stuck- in a situation that I couldn’t find an answer to- my husband was supportive, but men will never know what it feels like to have a baby inside you, to be a life line for someone you love with all your heart, and someone that you just want to protect and hold and love forever. I said goodbye to my son and watched his tiny heart stop beating- as I recall this now- the tears are streaming down my face- it has been 7 and a half years since that day and it plagues me constantly. I hope Alexander knows how much he is loved and that one day I will get to be the Mum I never got to be… for him.

I spent the next few months watching my baby girl thrive and my baby boy just lie there- I used to hold my stomach and send him all the love in the world- I wanted him to know that we wanted him with all our hearts, but we didn’t want him to have the pain and suffering that went with trisomy 18, that we wanted to give his sister every chance to survive, to have the life that he could never have. Olivia was born full term- a healthy beautiful baby girl, Alexander was delivered an hour later- I chose not to see his tiny body- which had now become paper thin, somedays I regret this- but I have an hour long scan video of him and Olivia together both moving about – when we didn’t know the tragedy of Trisomy 18.

I told my daughter this year about her twin- she was sad and we talk about him together- she doesn’t know this story- just that he left us too early and that they will one day be together again.

Not sure why I felt so compelled to tell you all this- I thuink I just miss my baby and wish that things had of been different.

To the other mummies of Trisomy babies- i send my love and thoughts- and tears.

Alex's Mum

Peg Spencer said...

Mrs. Mother - I am so sorry for the loss of your Jenna Grace. I'm sure the experience of having her for a short time made it easier and harder both. Thank you for sharing with us.

Peg Spencer said...

Alex's Mum,

Your story made me cry. What an awful predicament you were in! You made the hardest decision any mother could ever make. In my opinion, it was the right decision, and I commend you for your courage.

Happy belated birthday to little Alex, and my deepest thanks to you for sharing your story.

Peg

Erin said...

As a mother who lost her son to Trisomy 18, I'm grateful to hear the story from your standpoint.

We "said goodbye early" and terminated our pregnancy. We held our son, dressed him, buried him and had a memorial.

Before we made our decision, we had many consultations with medical professionals: my OB, our pediatrician, a genetic counseler, a perinatalogist and a neonatalogist. Everyone was more than willing to meet with us and discuss our son as best they could. I will be forever grateful to the medical community and their expertise. It helped me see clearly when my vision was blurred by tears and confusion.

Natalie said...

I'm waiting now to confirm trisomy 18 after a positive triple scan. We have decided to terminate if it is confirmed. I am comforted to hear the stories of women who made the same decision and still stand by it. I am so scared. Thank you to everyone who shared.

Anonymous said...

This story and the comment from the mother of the twins touched me. Last Monday my wife gave birth to our twins (boy and girl). The girl has something wrong with her. Some doctors are thinking Trisomy 18 due to many characteristic traits. However, they are doing genetic testing to confirm or rule this out. The girl also had a Choroid Plexus Cyst at 20 week ultrasound, but we were told by the OB at the time that there is NOTHING to worry about since there were no other markers at the time. Even a week before the delivery I asked the OB if she would check for Trisomy 18 in our girl after she was born, and all I got was "There is NOTHING to worry about." Of course, low and behold she is born now, and having many issues. Yes I am a little bitter over improper expectations being set, but also realize that it is not the OBs fault that she is sick. It's hard to see her, and then compare her to her brother who is already at home, evolving and maturing in his own right even after less than 2 weeks in this world. It is hard on my wife and I, in many ways, to bring a healthy baby with a bright future home, and watch the other twin suffering at the NICU and struggling to survive with what may be a condition that is incompatible with life. We'll see how our story plays out in the end, but in the meantime, I myself am happy to have met my angel, to see her eyes looking up at us when we visit. I visit her everyday on the way to work bringing mother's milk for her to drink, leave work at lunch to see her sometimes, and also visit her in the evenings. I hope and pray that whatever her fate, she does will not suffer horribly and that our family can remain strong and cope with this as best we can.

Peg Spencer said...

Dear anonymous father,

Thank you for sharing your heartwrenching story. I am holding your little girl and your family in my heart and prayers, as I'm sure many others are.

Amy said...

I read this post last week when I did a blog search for Trisomy 18 and have been trying to compose a thoughtful response. But it's hard. It's hard when I read terms like,

"Only an unlucky few survive"

"She was doomed"

"what was left of their defective baby girl"

"this ruined life"

"the mutant child"

My son was not doomed. He was not a defective baby. He was not a ruined life. He was definitely not a mutant child.

He was my son.

And had we been lucky -yes, LUCKY- enough to have been given weeks or months with him, we would have felt very, very blessed.

I realize that you are writing this from the view of a medical professional, who has been trained to counsel parents to terminate. But I would hate for a couple to come here -a scared, heartbroken couple- searching for help and answers and read only of "doomed", "ruined" and "mutant" babies.

By not painting a more balanced picture (or at least providing links to other sites, views, support forums, etc) you are essentially telling these grieving parents that they and their baby would be better off if the pregnancy is terminated.

Some helpful links would be to:
http://www.trisomy18support.org/
http://www.amazinggracegolf.com/ (the story of a little girl with full T18 who is now 5 year old and walking, talking, swimming, dancing, and attending kindergarten!)

You likely moderate comments on this post. If so, I encourage and challenge you to approve this one.

I'm not an activist. I'm a mother. I have recently started writing Nathaniel's story. It's here:

http://muddybootsblog.blogspot.com/search/label/Nathaniel%27s%20story

Isa Maria said...

Thank you Amy (Nathaniel's Mom). As a mother who is searching for information about Trisomy 18 after being given the news my baby may have this condition I was shocked to read this article. At the begining the author writes there are some gross details. I was shocked at how it was written. My baby has either Trisomy 18 or a heart problem. At 13 weeks he or she is measuring only 11. Also the nuchal fold measurement was 4.5mm. In the UK anything under 3mm is considered acceptable. I found out 4 days ago. I refused to have any invasive tests but will have further scans in a month to look for other markers and heart problems. I am trying to read all I can and I am hoping my baby is born alive. My baby is not a mutant or defective. My baby is the way God intended him or her to be and they are perfect in my eyes. I really hope I get to meet my baby, to hold them in my arms for even just a short while. Everyday I tell my baby that I love him and that I will care for him/her no matter what. I understand why some people terminate but it is not an option for me. I have never been a very religious person but I do believe God will decide the time for my child to go to heaven.

Peg Spencer said...

Dear Amy and Isa Maria,
Thank you so much for reading and commenting. I welcome differing opinions and experiences!
First of all, please accept my apologies if I inadvertently offended you. I fully understand that everyone's experience is different, and that others might have a very different take on the whole situation.
My intention in writing this post was merely to share my own experience as the young intern I was then. I do not pretend to be any kind of expert on genetic conditions or trisomy 18. Thanks to Amy for including some links to more inclusive and objective sites.
As you said, Amy, I write from the point of view of a medical professional. The parents who were my patients made the decision to terminate rather than hold their baby girl as she died soon after birth, which was what was likely to happen (according to the genetics experts they saw). This is obviously not the only option, and I'm thrilled to hear that others have had much more positive experiences.
Thanks again for posting.
Peg

Anonymous said...

Pregnant 11.5 wks. S/P CVS rapid testing dx trisomy 18. I also work in healthcare and can't imagine subjecting this perfect little angel to such a painful existance. Having a great deal of agony with this decision.

Peg Spencer said...

Anonymous,
I'm so sorry to hear of your situation and your pain. It is not an easy decision, as you can see by all the comments here. I strongly advise you to seek counsel from those you respect ant trust and do what feels right to you.
My heart is with you.

Ana said...

Just found out at 12 weeks that my little girl has trisomy 18. We are still in shock and trying to decide how to proceed from here. It is funny but I feel like I love her even more after finding she is so sick and malformed. Frankly both options scare the hell out of me. I hope things becomes clearer as the days pass and the reality sinks in. Thank you for this post and for all the different comments. It has been comforting to hear from other people who have been in our position.

Peg Spencer said...

Ana,

My heart goes out to you and your family. I'm glad you found this site, mostly for the stories from the other parents who have faced the same situation. Thank you for commenting, and may you find the best decision in your heart.

Peg

Anonymous said...

One year ago today, I said goodbye early to my son with Trisomy 18. My story is almost identical to that of Alex'sMum. Carrying him to term would have jeopardized the life of his twin sister -- and we were faced with a decision that no one should ever have to make. We couldn't stand the thought of losing both babies, despite the fact that both of them were wanted more than they will ever understand.

I just wanted to say that I found this story today and it caused the tears to fall that had been welling up inside all day long. I love both of my children so much, and while I live to see my daughter smile every day, there's an empty hole in my heart for my lost son. Not a day has gone by that I don't grieve his loss, and I hope I will meet him someday again.

Morgaine said...

I just want to say that no woman going to an abortion clinic deserves to be hassled. I know you probably didn't mean it the way it sounded, but while I agree Caroline didn't deserve to be hassled, no woman should have to deal with protesters when she goes in for an abortion, whether that is an "elective" eight week abortion or an abortion of a child suffering from a life threatening disorder. Please understand that.

Anonymous said...

My baby girl Camila was diagnosed with Trisomy 18 two weeks after she was born. She was born with a heart defect and my pediatrician suggested genetic testing. She was born July 26, 2010 and is now close to four months. I elected not to be tested during my pregnancy because I did not want to make the decision to terminate. She is home with us and we have the assistance of hospice. She now needs oxygen and medications to be comfortable. Camila is a beautiful little girl who I will miss with all my heart. Not knowing how much time we have with her is so difficult for us. I have requested a leave of absence from work because I need to be with her until the end.

Anonymous said...

Oh, I just stumbled upon this article as I was searching for info. about Trisomy 18 because a friend of mine is pregnant with a baby with this diagnosis. This article just breaks my heart. I do not stand as a judge before these women that have chosen the choice to take the life of their babies. I am not God. But I do know that we serve an Awesome God that tells us He knits us together in our mother's wombs. And I know that nothing is impossible for Him as we seek Him for all things. We may not understand everything on this earth, but He is the Creator of life and death, and I do know that we are to allow Him to be the author and finisher of the life He has created. He is good, and His ways are far above our ways. I pray for all hearts to be healed in these situations and for peace that can only come through Christ and in Him alone. If anyone is struggling with a decision to end their babie's life, please turn to God for the answer and choose life. And for anyone that has already made this sad decision, there is hope in Christ and in Him alone. He can take your ashes and turn it into beauty. Turn to Him, and He will set you free. He loves you more than anyone in this world, and His desire is to save you and give you abundant life in Him.

Anonymous said...

I was 18 weeks pregnant when I found out my baby girl had trisomy 18.... my boyfriend and I were devestated. I was going to nursing school and he was in culinary arts. We were just passing our 7 year anniversary when we found out about our princess. We decided to terminate our pregnancy and its been so hard to move forward. Thank you for sharing the story... everyday is a struggle and its comforting to know someone else knows how I feel.

JPD Blogger said...

I as well was pregnant w/ a Trisomy 18 little girl. We knew that we did not want to terminate the pregnancy, because my husband and I believe that God is soverign, and that he is the creator of life. He has purposes that we don't always understand. After learning as much as possible about Trisomy 18, we had to fight with the OB's in order to not have an amniocentesis done, and to plan to deliver our little girl at a hospital where she could have access to the care she might need at birth. We knew she had a heart defect, and weren't sure about her swallowing reflex (as I had lots of extra amniotic fluid). She died in utero at approx 32.5 weeks. I felt such disappointment that we weren't able to deliver her alive. I did deliver her though, on October 26, 2010, and was able to hold her, take pictures, etc. I did not understand the part of your story where the parents were "forced" to not see the baby. That is just a crazy attitude. Our baby, Sheryl Grace, was a beautiful creation, not a mutant child, or a defective life. She was just as God had intended for her to be.... I still do not know what God's purpose was for our little Sheryl, but I do know that although I have six other children (from 19 to 5), I will never have the same view of God's miracle of creation again. When we were going through the pregnancy, I saw our parental role as the "protectors" of our baby. The doctors insisted that she would not be able to live, that there was no point to try to give her life. But, as you can see from these few other posts, some children do live with Trisomy 18. And whose to say how many more would live if they were not aborted, or only given "comfort measures" at birth, instead of the care we give other "normal" children at birth, when they have trouble breathing, etc. I am grateful that my doctors gave me the facts about Trisomy 18 and did not try to sugar coat the issues, but I also feel that given those statistics, my husband and I should have been able to say that we wanted every chance given to our daughter to survive at birth, instead of having to fight with the medical establishment to find a doctor and a hospital that would give our child at least a chance to survive. I know of a Trisomy 18 baby girl named Lilly that lives in NC, born in July, but after having lived 2 months could not find any doctor to operate on her heart to allow her to survive. She came here to Jackonsville, FL to Wolfson Children's Hospital in order to find a team of heart surgeons that would even consider Lilly's case. I met with one of these doctors as well during my pregnancy, and they have a most refreshing attitude toward these children to treat them "on a case by case basis, to help them if possible". This is all a parent could ask!!! Lilly's blog can be found at http://www.pray4lilly.blogspot.com. I apologize for my ramblings, but have not written about these issues since Sheryl Grace was still-born. We will miss the chance to care for her, but feel that God's will is always best. I will pray for all of the mothers who have written here, because I know first-hand that there is nothing easy about dealing with these kinds of issues, and we all need God's love and grace in order navigate through our lives.

Peg Spencer said...

Anonymouses and JPD Blogger,
Thank you for sharing your heartfelt and difficult stories.

Anonymous said...

I was very dismayed reading this.
It is very wrong that the medical profession gives out information which is incorrect and untruthful. Most of their advice is based on very outdated papers and statistics and indeed ignorance.
Truth is the medical profession can not possibly know how long a baby with t18 will survive.
I was given no hope at all when I was told my baby girl had full t18 at 23 weeks into my pregnancy.
After much researching and agonising I chose to carry my baby and she was born at 42 weeks naturally and survived for 13 weeks. She lived at home with us and we had one wonderful summer with her. She passed very peacefully in my arms. I would not trade that time for anything in this world.
We desperately wanted our baby to have her heart defect repaired but we could not find any supportive doctors in the UK. We as her parents were not allowed to make decisions for our daughter and that is so very wrong on every level.
So medics please aknowledge that these very special babes can and do survive and bring imeasurable love to their families. The information given to parents shouldn't be so totally negative.
Although I respect everyones decision, I am so very glad that I did not end my pregnancy early.

Anonymous said...

Dr. Spencer,
I appreciate that your actions and the information you provided represent a conscious intent to do your best for this couple, whose baby could not be fixed from all her problems.

With respect, I have to question whether the decision made by this couple was based on informed consent. You wrote that the child would die "in agony." I wonder how significant the vision of their child dying in agony was to this couple who chose termination. Is this true information? I am familiar with the literature and I can't find any reference to this. The support groups on the internet allow for parents to get a first hand view of the lives of these children. They are actually happy little beings. The spread joy. They enrich the lives of families, even if they live only hours long.

I had a baby with trisomy. I suppose my child's doctors were like you, in that they truly wanted to do what was best for my family and for my child. According to their values, it was best for all if she was dead. When she was just a few months old (two days after her first smile) she had respiratory distress and came to the hospital. The doctors told us things that caused us to believe that our child would suffer as surgery she needed was not in her best interest. A short time later, she died.We made the right decision, but it was not based on the truth.

We asked the Coroner to investigate because all the final records were missing. Something was wrong. The Coroner said my child's death was not certain and she did not need the surgery described. We don't know where the records or the lethal narcotics withdrawn went to. Death was consistent with the manner of death if someone had an overdose of narcotics.

Paternalism is no longer an option when it comes to children with trisomy 13/18. The truth is out there, all over the place. Parents will discover it if they choose. When the truth comes too late, it is devastating.

Marsha said...

i am the grandmother of lilly, the trisomy 18 baby mentioned in JPD's comment. lilly lived to be 17 months and was a happy child who blessed us all. i thank God my daughter and son-in-law saw value in lilly's life, as she was created by the Lord God and fearfully and wonderfully made. through lilly's blogspot (http://pray4lilly.blogspot.com), she touched thousands of lives across the world. the Lord created her for a purpose and when that purpose was fulfilled, He took her home. we love to talk about how she is now healed and can run, talk, and laugh and is with her beloved pop who went to heaven a few months before her.

lilly was born on july 4, 2010 and for the first hour we did not think she would live. but her fighter's spirit prevailed and she was nick named "the little firecracker." her life and her story is one of incredible love, faith and blessings to all who knew her or followed her blog.

the value of life is not determined by our chromosomes, or compatibility, or our perfectness. our value is determined by love. and lilly was not only deeply loved, she loved her family as well.

thank you Lord for the special gift you gave us. thank you for allowing her to stay with us 17 months and for all the lessons she taught us and the love she brought us. we are all better people because of this little trisomy 18 girl.

FAITH said...

Wow...not sure where to even start with this. I am currently sitting next to my 3 year old daughter with Trisomy 18 and Monosomy 21 so I certainly understand the struggles of this condition. I also understand far more about these children than you likely ever will because your view of life stinks. You are typical of far too many doctors who are out there giving deceptive advice to parents. You tell them that they would be better off exterminating (murdering) their child than having the child and living out the results. Well, I can testify that we are far better off having gone through this experience. If our daughter were to die today, we would be sad and heart broken, but I could not imagine the guilt I would be experiencing now if we had listened to the corrupt genetics doctor who encouraged us to have an abortion several times even after we made it very clear abortion was not an option.

I read dribble like this and understand why our nation is so screwed up. It sickens me that 90% of Downs Syndrome children are aborted. These Trisomy 21 children are not normally impacted nearly like my little Faith, yet doctors encourage their parents to murder them in the womb so they won't have to deal with the problems. Sadly people listen to this foolishness and the result is a society that has little value for life. We have allowed our country to deteriorate and are quickly moving toward a life view much like Hitler's Germany. Don't sneer at my comment, but do a little research to know that Hitler's ideology was the same as Margaret Sanger, the wonderful founder of Planned Parenthood. She was a perverse woman who believed in eugenics and pushed for this practice in America. Margaret Sanger on the rights of the handicapped and mentally ill, and racial minorities:
"More children from the fit, less from the unfit -- that is the chief aim of birth control." Birth Control Review, May 1919. Margaret Sanger on blacks, immigrants and indigents:
"...human weeds,' 'reckless breeders,' 'spawning... human beings who never should have been born." Pivot of Civilization, referring to immigrants and poor people. These ideas are still alive and well as you can see from this original post.

As I write this, I just watched my Trisomy 18 daughter reach up and touch her older sisters cheek. She smiles and cries, laughs and experiences pain. Does she struggle? Sure, but as my wife points out frequently to doctors and nurses we were all born to die. We will all struggle in this life and face tribulation. If you are a parent facing this type of situation, please don't listen to this wrong thinking and horrible advice. Our job as parents is not to be selfish, but selfless. There is a much greater reward in working through these troubles than trying to avoid them and living with the heartache and guilt of an abortion. The doctors don't know what your child's life will be so don't trust them when they say you're better off killing your child. We were told our daughter would not live, but have discovered a large part of Trisomy 18 children not living is an unwillingness to treat their problems. We have found doctors who will help and our daughter is doing better all the time. There is hope even in the struggle. Check out our story at www.littlefaithtobigfaith.blogspot.com and do what is right, not what feels right.

Anonymous said...

Dear Doctor,
The gross part you mention is that you told these parents their child would die in agony when you had know way of knowing that. The other gross part is that the parents were not allowed to see their daughter. So sad they will never know what it would mean to hold her. Say Good bye. This whole story is so much sadder than it would have been if you had not interfered. Yes I know we are talking about T18.

Anonymous said...

reading this blog upset me....... no offence but you are a classic case of someone who went to medical school and lost your humanness along the way, it might not be your fault considering you probably read abput T18 in one class course and it ended there.

there is a community of thriving T18 children all over the world. these children are not " incompatible with life" , if u are indeed human you do your own research and realise you have erred.

I have a little girl with T18, born 2006 and she is alive and not incompartible, she is not in agony, she is a fiesty, diva, and very special. So if my math serves me right, she will be 6 this august!!!!!!

she has frenz in the US, UK, Japan, China, Mexico...........Many frenz ranging from a few months or days old to some in their 20's..... Now i am sure you wont find any medical journal publishing that..your dated research and uneducated blog on T18 makes parents make decisions for babies that could have thrived. I am sure somewhere in history T21 children were aborted more than we will ever know because they were not "perfect" granted some of them have gone on to live good lives and tell amazing stories.

doctor Peg feel free to attend a conference in July 2012, where a few doctors who indeed have human compassion and believe our children can thrive come to meet our children, they see for themselves that the literature they read in medical school was not accurate, that we live in a society that indeed practices eugenics .... So mark your calendar Doc, if you are in the US its JULY 2012 18- 22 in St Louis Missouri

http://www.trisomy.org/conference/

Marsha said...

http://articles.boston.com/2012-02-03/arts/31026358_1_trisomy-genetic-disorder-rick-santorum

Republican presidential candidate Rick Santorum stepped off the campaign trail a week ago to be with his 3-year-old daughter, Bella, who was hospitalized with pneumonia. Bella was born with a devastating genetic disorder, Trisomy 18, which means she has an extra, third copy of the 18th chromosome.

Nearly half of children born with the condition die within the first three months, and 90 percent within the first year. In fact, Santorum has said in media interviews that he was told not to expect Bella to live beyond her first birthday, calling her road to recovery from the recent pneumonia a “miraculous turnaround.’’

Usually diagnosed early enough in pregnancy for abortion to be an option, Trisomy 18 occurs in just 1 in 5,000 to 1 in 10,000 live births.

“Many people are familiar with Down syndrome, another trisomy disorder, but babies with Trisomy 18 are generally more intellectually disabled than kids with Down syndrome,’’ said Dr. Mira Irons, associate chief of genetics at Children’s Hospital Boston.

Many kids with Trisomy 18 who live beyond a few months never walk or talk, and they require constant care.

But there’s been a shift, Irons added, in how physicians address medical problems in those born with the condition. “When I first started my training, quite often, we just provided supportive care,’’ she said, rather than putting a baby through major surgery to repair organ problems that often accompany the disorder like a heart or liver defect. “Over the past five to 10 years, that practice has really changed.’’

Many now undergo extensive surgeries, which increases their odds of living past their first birthdays, and some, aided by extensive therapy, learn to communicate on a basic level with their loved ones. “I’ve heard parents say their kids are happy in their own way and are leading well-cared-for, meaningful lives,’’ said Irons.

THANKFUL THAT MORE TRISOMY 18 CHILDREN ARE BEING VIEWED IN A POSITIVE LIGHT. THANKFUL THERE ARE DOCTORS WHO SEE THE LIVES OF THESE CHILDREN VALUABLE AND ARE WILLING TO HELP THEM.

Kathryn said...

Hey Dr. Peg, why no comments on all these parents who have decided to give their children a chance to live and have found out that the children actually CAN live, CAN have happiness, and CAN give joy to their families? Why so silent?!! I sincerely have been praying for you, that you might humble yourself enough to start doing some real research into this, and educate yourself enough to give your patients factual information from here on out. Then also, that you would humble yourself enough to come on this, your own website, and admit that your lack of understandings might very well have caused undo premature death to that original child that you helped to abort....I say 'helped' because you condoned and participate in the decision and events surrounding it, even if you never touched an instrument. Come on Dr. Peg, weigh in on this conversation that you started on your own blog!

Peg Spencer said...

Kathryn,

If you read all the comments above you will see me weigh in several times. I have also responded privately to some people who included their contact info.

I have learned a lot from all the parents who have posted here, and I appreciate it. As I have said before, my intention was simply to share my experience as a young resident, 20 years ago. I don't judge my patients for the decision they made at the time, nor do I judge parents who choose to continue Trisomy 13 pregnancies. Clearly many have found love and meaning, and I'm happy for them.

I also rarely write on this blog anymore. If you look, you'll see the last post was over a year ago. I get informed by email when someone comments. This particular post has gotten the most comments, and one reason I leave it up is that it seems people have found solace here reading others' stories.

Thanks for visiting.

Meghan said...

I had a baby girl girl Myla last September who had full Trisomy 18, I found out at 17 weeks. Choose to go full-term and she was with us myself "her mother", her daddy and two older brothers for over 9 hours. I would NEVER abort! She loved hearing all of us it made her smile and happy, even as a newborn, she knew our voices! I can't possibly imagine not being able to spend the time I got with my baby girl and will forever cherish every moment! Trisomy 18 babies deserve a chance life isn't promised to be long but life should get to be lived!

Peg Spencer said...

Meghan,
Thank you for sharing your beautiful story.

Anonymous said...

I imagine that with the early blood screening, these stories will become even more heart-wrenching and commonplace. I have been given an unspecified result for Trisomy 18 - neither negative or positive, and am anguished over the decision I may have to make. We declined cvs because of the miscarriage risk, but will probably consider amnio if the 16 week ultrasound shows positive signs. Thing is, everything has been perfect up til this point, or so the doctors have said. It makes me wonder if the u/s tech saw something at my 14 week u/s, prompting her to invite the doctor, who only said everything looked good. What did they see? Why didn't they tell me?
I too am scared and heartbroken that I may have to face whether to continue with this pregnancy - I am the main breadwinner. If I were to deliver a very sick baby, what would that mean to our lives? I have to think of the family I have, the ones who rely on me to make the right decisions, to care for them as best I can. It's an impossible choice, and to sit in judgement of others because it's not the one you took for yourself is not the way of God either.

Anonymous said...

We have just lost our little one to Trisomy 18. After 15 years of trying, muscarrying and failed IVF attempts, our doctors ultimate decision to terminate after many scans and tests has left me feeling guilty and heartbroken. Its an impossible decision to come to terms with.

AnnieonBlueBerryHill said...

Hello Dr. Peg.
I wrote you a a few years ago about a family in our church having a Trisome 18 baby.I was upset at the words you used and must say you sent me a very nice response. Well Faith Victoria just celebrated her 5th Birthday and is being potty trained. I also gave them your blogspot address. I don't think I can add a pic of Faith Victoria on here but here is their facebook page. Thank you for at least letting us speak our mind on this subject. Sheryl Menke https://www.facebook.com/jesibrad

Peg Spencer said...

Happy Birthday to Faith Victoria! Thank you for letting us know, Sheryl. My very best to you, Faith and her family.
Peggy Spencer

Anonymous said...

I'm barely 13 weeks pregnant and found out our little girl has Trisomy 18 after the nuchal translucency showed a measurement of 4.5mm. My husband and I went back a few days later for the CVS and the space was 5 mm.

As a Christian and a Catholic I'm going through a lot but I am at peace. I'm also horrified at the number of comments here and elsewhere applauding women who did not terminate.

Who are these people to judge? I have two healthy children, a supportive husband and at 44 years of age I've been knocked to my feet. In His mercy my pregnancy symptoms are starting to slowly fade and I'll end up one of those 2nd trimester statistics. But for the rest of you -- Christ was MERCIFUL and COMPASSIONATE, something some of you know absolutely NOTHING about!

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