Op-Ed Piece: Trisomy 18 . . . a Voice for a Condition Long Held in the Shadows

In the last few weeks, a large swath of the American public has been asking, “What is Trisomy 18?” for the first time. It began in the wake of Senator Santorum’s decision to leave the campaign trail in the Florida primary the last weekend in January to be with his critically-ill daughter who was hospitalized, and then many began questioning the severity of Bella’s condition. As the Executive Director of the Trisomy 18 Foundation, I know many families who all have their own stories of loving a child with Trisomy 18. As a community of parents, they are all grateful to the Santorum family for their openness in sharing the exact nature of Bella’s condition with the world. For too long, Trisomy 18 has been a hidden disorder, as well as the stories of the families coping with a Trisomy 18 diagnosis.

I run the Foundation that supports these families, but I am also a parent of a child lost to Trisomy 18 at 11 days old. At the Foundation, we hear from families in the thousands every year because, although survivors like Bella Santorum are rare, families learning about a Trisomy 18 diagnosis, usually at around 16-20 weeks of pregnancy, are not rare at all.  Studies in recent years at the CDC found that approximately 1 out of every 2500 pregnancies result in a Trisomy 18 diagnosis.* Learning about this condition turns these parents’ worlds upside down and steals their dreams of the healthy child they were expecting.

Parents are faced with the challenge of making heart-breaking decisions about how to be the best parent they can be to this child with a disorder they’ve never heard about. And they grieve deeply for the “fantasy” child they were expecting that would grow up to live a long life and make them grandparents one day. From my position within the Foundation, I have had the honor to witness, listen, and advocate for the needs of literally tens of thousands of families over the last decade. What I have learned to be true is that is that all these parents fear three things: they are afraid of losing their child to death; they are afraid of the dying process; and they are afraid of their child suffering. Depending on which of those fears are foremost in the parents’ mind at any given time, parents can make very different choices about how to best care for their child as a unique individual. Some parents choose to interrupt their pregnancies and “Say Early Goodbyes” (their term). Some others whose children survive the newborn period choose surgical interventions, such as cardiac malformation repairs, feeding tubes, and tracheotomies, all of which may give the child and family more time beyond the newborn period. But death will still come for this child sooner than it should. Of the babies who make it to birth, 90% will not live to see their first birthday. Knowing that, many parents also embrace the principles of perinatal hospice and palliative care to give their infants as peaceful and comfortable a passing as nature would dictate. But I know that all these choices are made out of a parent’s love for their child. I know that every child’s life . . . no matter how fragile or brief, forever changes these parents’ worlds, far beyond the child’s lifetime.

The biggest challenge they face is the lack of evidence-based information about how Trisomy 18 actually impacts a child’s life and what interventions may be helpful or hurtful. We also don’t understand the wide disparity in clinical outcomes for these children. Surgery is always risky for a medically-fragile child. Trisomy 18 is a genetic diagnosis, but it is not a medical prognosis. These children all have the same genetic makeup with an extra 18th chromosome — but that doesn’t actually tell us very much about how the unique genes providing this “extra dosage” of genetic information and how it disrupts the development of the individual child. And without that, parents and their doctors are left without any treatments or specific guidance to address the condition itself. That is what the Foundation is committed to changing through our investments in clinical and basic research.

From the many families with children like Bella Santorum that are in our Trisomy 18 community, we know today that Trisomy 18 is not “incompatible with life,” but it is still incompatible with a long life. It is still incompatible with a life free of major health and developmental challenges that will require life-long care and home nursing support. But does that mean that because we assume they will die, that we should let them die? Futile language can lead to fatal outcomes because these children are expected to die. Decades ago, children born with Down syndrome tended to die around 3-5 years old because they had congenital heart malformations that were considered futile to correct. Now it is considered the standard of care to treat these defects early, and the average life expectancy for adults with Down syndrome is around 60. And we are seeing amazing breakthroughs in the study of Alzheimers from studying the lives of adults with Down syndrome who themselves exhibit symptoms of early-onset Alzheimers disease. These adults are living today instead of dying as young children because our standards of who to treat with cardiac surgery has changed and evolved. Who is to say that the children with Trisomy 18 may not hold the key to other pediatric or adult onset diseases searching for preventions and treatments?

The truth is there is much we do not know about Trisomy 18 and how to prevent it or treat the children born with it. We can only treat the symptoms today, and only for so long before death inevitably comes. Every day in the United States alone, 10 families are learning their new baby has Trisomy 18. And most of those families will never get the chance to celebrate their first birthday.

It’s unacceptable that there isn’t medical research trying to understand how this condition can be treated or prevented.  Genetic research today can uncover much we do not presently know. And Trisomy 18 can become a preventable and treatable condition for future generations. That is my commitment, shared by many parents working together as a community of parents, to bring new research and new treatments to children with Trisomy 18, so that fewer families lose their precious newborns to this condition.

*Crider KS, Olney RS, Cragan JD. 2008.  Trisomies 13 and 18:  Population prevalences, characteristics, and prenatal diagnosis, metropolitan Atlanta, 1994-2003.  Am J Med Genet Part A 146A:820-826.

Comments

  1. teresa schrock says:

    I just lost my grandson,Alexander,to Trisomy 18,at 31 weeks gestation.My daughter and her husband made the decision to carry the baby as long as possible,and to let nature decide. Alexander’s heart stopped in utero and he was stillborn. My love and heart and that of Alexander’s entire family, 3 brothers, and his loving parents were broken. I know the public needs to be aware of Trisomy 18 so that one day other parents will not have to go through this heartbreak. I will forever miss Alexander and know he is in the arms of our LORD. God Bless all these babies and their parents.

  2. I lost my baby girl Gracie to T18 in 07′ at 26 wks gestation. I found out she had it the same day I found out she was a girl,I had never heard of T18 before. My husband and I chose to continue with the pregnancy and let God take over!! Then it was 1 in 3000 pregnancies now its 1 in 2500!! My heart hurts more and more each day but I’m so glad this is getting the attention it so much deserves!!RIP GRACIE. AND ALL ANGELS LOST TO T18

  3. Lynne Gonzalez says:

    Very motivating article. Everyone has a stake in the medical professionals learning more about Trisomy, not just Trisomy 18, but all the chromosomes. Anyone who takes a chance on bearing a child now, risks having a Trisomy (any chromosome number) child. When my son, Anthony was born (1989), the doctors told me that the research on Trisomy 18 (Edwards Sydrome) was very limited but that the occurence was 1:100,000 and the prognosis was very grim to fatal, especially for the boys so mainly comfort measures were all that were offered. They were surprised that he survived for nearly 6 months. The higher ratio of Trisomy 18 births is alarming. It may be due to the improvement of prenatal care that so many Trisomy 18 babies are diagnosed or it may be that there is a catalyst in our environment but whatever the cause, it would be nice to know as much as possible to find out how to prevent it. God Bless all of our Angels!

  4. My heart is breaking for my own Gracie. I am 16 weeks and she is still with us, thanks to God. I’m so glad to have read this article. Having found out her T18 diagnosis a couple of weeks ago, I’m confounded at the lack of a treatment plan. You are so correct with the three fears. My heart goes out to all parents with this diagnosis. Blessings to you for your invaluable work.

  5. Shelby Torres says:

    This article brought back many real and raw feelings, my daughter Trinity lost her life 5 mts after she was born, I too had NEVER heard of Trisomy 18.. Although it has been 11yrs, she has been gone, I grieve know for the parents who have to hear the words Trisomy 18, because I will NEVER EVER forget the day they told me my daughter would not live to see her first birthday,it is sooo devastating for the families and the babies who have too fight so hard to live..

  6. Denise Lohr says:

    My granddaughter Nevaeh Leigh Lohr was born 1-13-11 and lived 1 hour and 49 minutes. She was absolutely beautiful and I miss her so much. Trisomy 18 and all of the trisomy conditions are robbing families of loving lives with their little ones. Hopefully one day medicine and science will find the cures to make our families whole again. God bless all the little angels in heaven.

  7. Victoria says:

    Hi my name is Victoria I was told feb 8 2013 my son
    Had t18 over the phone my heart was shed to pieces
    I feel terrible because he’s my baby and there is nothing I can do
    To protect him if something does happen to him I’m going to miss him
    A lot this is my first time pregnancy and I’m scared to death
    I don’t know how to continue with my life all I can
    Think about is my pushing in the delivery room and that that
    Can be our last time together I’m never going to feel
    Him kick me again never talk to him sing to him
    Feed him again it hurts so much and I feel so sad ! I feel like my heart
    Is torn to pieces everyday ! It’s a terrible feeling just the thought
    Of saying bye letting go after 9 months of taking him everywhere
    With me in my belly ! On top of everything I’m pregnant and emotional

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