Trisomy 18 — How Things are Changing

English: Characteristic clenched hand and over...

Last week I wrote about Isabel, our third daughter, born with Trisomy 18.      You can find it here:  First Face I Wanna See For several months I’ve been planning to blog about our experiences with T18 — a series of posts covering the five weeks she lived, from June 13-July 18 (2003).

For us, one of the most difficult aspects of dealing with a T18 diagnosis was the lack of real support from the medical community.  I was somewhere around 20 weeks pregnant when we found out through a routine ultrasound that Isabel had a serious heart defect.  At that point, the heart problem seemed like the only major issue.  But when we went for a more advanced ultrasound, other T18 markers were visible to the technicians.  A doctor came to speak with us and offered us three choices in this order:

  •    Abort the baby.
  •   Get an amniocentesis to confirm the diagnosis.
  •   Wait until the due date and handle things from there.

For us, abortion was not an option.    Our main concern was taking care of our sick baby.  If she really had a genetic disorder, we needed to know what it was and how to handle it.  If she only had a heart defect, we wanted to arrange for surgery immediately after her birth.  We opted for an amniocentesis (ouch!) and then waited for a very anxious week and a half.  A counselor called with the results — an incurable genetic disorder.

From the very beginning, we were told that Trisomy 18 is “incompatible with life.”   I was given a brochure — just a little fact sheet, really — on the effects of T18 and statistics on the survival rates — which were grim.  Many T18 babies don’t make it to delivery at all.  Those who make it do not usually survive their first year.

This is not easy to accept when you are still carrying a living child, feeling her kick and move every single day.   I kept looking for more information — what could we DO to help her?  What were our options?  The fact sheet told me that there were a few children living with the disorder — some  lived happy lives with their families, despite their health issues.  I scoured the Internet, trying to find out more information about these kids.  At that time, there was so little — only medical articles filled with jargon I could not wrap my tired brain around.

So we waited out the last months of the pregnancy, preparing to turn this corner in our lives completely blind, with no idea what to really expect.  Towards the end, we met with the neonatal doctor from the local hospital to discuss what to do if she made it to term and needed care from the NICU.

English: The Neonatal Intensive Care Unit (NIC...

He was a youngish doctor, good-looking and confident.  I’m sure he meant well, but he was one of the worst parts of the whole experience.  He did not agree with our desire to do everything possible to help our baby live.   I am sure he had experienced this many times, and that he knew the sad results.  Maybe he wanted to spare us the emotional rollercoaster, or maybe he was just plain insensitive.  Whatever the case, he challenged most of our ideas.   He questioned our decision to have an emergency C-section if Isabel did not respond well to labor.   He seemed very frustrated, almost angry with us for choosing this option — one that I’d already discussed and settled with the OB.  “That’s not a good decision,” he told us.  “She’s not going to live anyway, and the surgery could cause problems for you with future pregnancies.”

We were pretty angry by now.   People have  C-sections all the time, sometimes out of a personal preference.  We had one basic guideline for our decisions–we would give Isabel the same chances we’d give a child without a fatal diagnosis.   If it would be offered as standard care for our healthy children, we wanted it for her.

Later in the day, this doctor  even spoke with  my OB/GYN.  He asked her to call me and make sure I understood the diagnosis — that it was INCOMPATIBLE WITH LIFE.   Did I understand  what that meant?

I am not stupid.   I understood both the diagnosis and the statistics.  But I’d also seen– in the materials given to me by this same hospital —  a small sliver of hope that we’d get to enjoy our child, even if it was only for a little while.  Was it so foolish to desire time with our baby?  She was a person, someone important and real to us — not a medical problem to solve.  There was a definite sense of disconnect between us and our medical providers.  From the first conversation with that doctor, we felt defensive, and this colored everything that came later, all our interactions with the hospital.    Talking through our goals without a sense of resistance would have helped.

This is something that many T18 families have faced, as I discovered later.  After Isabel’s death, I found a message board online, full of T18 parents talking, sharing information, helping one another.  I joined immediately and spent many months getting to know these moms, finding comfort in the shared experiences.    Here, I found information I wished I’d known when we were making our decisions — how to handle doctors, what to ask, what to look for.   This board later grew into a non-profit organization — you can find it today at http://www.trisomy18support.org .  Some of the same women I chatted with are now running a foundation dedicated to research on Trisomy 18, committed to raising awareness within the community, working toward a better future for these babies, and a better experience for the families.  Advocating for better awareness within the medical community is a primary focus.

I appreciate the work that the Trisomy 18 Foundation is doing. It offers information, hope, and support for families in the situation we faced.  And it all grew out of a simple message board, a few people who put their heads together and decided to make a difference.  They are changing the T18 experience for families today, and they are giving tomorrow’s babies a future.   Here’s to determined parents making a difference!

trisomy18support.org

The mission of the Trisomy 18 Foundation is to improve the lives of families who receive a Trisomy 18 diagnosis for their child through national leadership in research, education and support, and advocacy. We have a vibrant online community of families supporting each other and a growing list of educational, research and legislative advocacy initiatives.

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2 thoughts on “Trisomy 18 — How Things are Changing

  1. Kristen, we have always known our children would surpass us and it is one of our greatest joys as we see you soar and bless so many with a wisdom obviously from above. Thank you for making our day! Mom and Dad

  2. Well written and clearly communicated Kristen. Thank you for standing for all the Isabel’s out there. Love you.
    Dad

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