Trisomy 18 Foundation

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Anne Elise Bacon

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Goodness Gracious So Very Sweet!

Anne was born April 28 and died June 28, 2005. She is our 3rd child--the 2nd to precede us in death. Nothing is more shattering than burying your children. Our comfort is that they bear witness to the Good News of our Resurrection in Christ Jesus. Anne was met in Heaven by her sister, Abigail, who died of a preventable cord accident at term in 2003.

After meticulous cycle charting, Anne was conceived on September 2, 2004. We took our care to the university teaching hospital where they specialize in high risk pregnancies.

As with Abigail, our pregnancy with Anne was uneventful & delightful all the way to the end. We opted out of any invasive tests since we didn’t want to put the pgcy at risk. We’d already lost one fullterm baby and we knew we’d be having multiple level II ultrasounds along the anxious journey.

In fact, we learned the hard way after Abigail’s sudden death that our children are often only borrowed to us for a short while, and thus we wanted to have as much joy during Anne’s pregnancy as we possibly could. A subsequent pregnancy after loss (SPAL) is anxiety-riddled enough without adding more. We knew such added stress wouldn’t be good for mama or baby.

Moreover, in retrospect, we're fairly convinced that the quality of prenatal care we needed would have been dramatically compromised if our doctors had known about Anne’s trisomy prior to her birth. So in that respect, we’re very glad we didn’t have the amnio that everyone says "I told you so" about.

In addition to the many ultrasounds, we also had an ECG which is an ultrasound that takes complete stock of one’s cardiac health. It never picked up on the VSD that ultimately killed our little Anne. VSD is a hole in the heart that is common in newborns, and often repairs itself in time. Surgical correction is also quite common.

Astonishingly, we went through the duration of our pregnancy having THREE perinatologists and TWO expert techs doing our ultrasounds, and NONE of those providers ever picked up on a single softmarker for t18! In fact, they even sent us home with a photo of Anne’s little hand waving at us. Ironically, we found when she was born that she had classic Edward's finger deformities. Trisomy 18 is also known as Edward syndrome, and a crooked forefinger is a classic marker.

In addition to working with our plethora of medical experts, we also had the Director of Fetal Imaging sign off on every ultrasound they performed. We sat and watched her comb over every ultrasound photo they took, and even she didn’t catch a single marker.

One is tempted to ask how such a mis-diagnosis is even possible in today’s medical technological world? Our question is why should we put such stock in the advances of technology in the first place?!

Clearly, Anne was mis-diagnosed every step of the way--in favor of health. Certainly, it would seem reasonable that they mis-diagnose many patients they deem "terminal" or “incompatible with life” as well.

And yet how little those who make prenatal diagnoses often know about trisomy 18! After all, they are maternal fetal medicine specialists, not geneticists or specialized pediatricians. The trisomy information we received neonatally after Anne's birth was worlds apart from what we received during our prenatal genetic counseling sessions. Such discrepancies of information made us question how doctors could make prenatal recommendations with such little working knowledge of trisomy 18--especially when prenatal DNA information can be so insufficient in determining a patient's prognosis (even with amnio).

With prognoses often being so unique & individualized for each patient, it seems so medically inconsistent to use phrases such as “incompatible with life” when so many LIVING with trisomy 18 fail to fit that medical model.

So Much More They Could Have Done

Since Abigail suffered from SADS caused by late term cord constriction; we monitored Anne's late term growth vigilantly. We scheduled induction for April 28, but Anne ended up being born by c-section after having some cardiac issues in early labor.

It was after Anne was born they found her VSD. That and her other softmarkers led them to suspect trisomy 18. The blood test came back a week later confirming trisomy 18. Of course they never expected her to live long enough to see the test come back, but she had her own ideas about life.

To answer the question: Yes, it was very hard having our happy birthing day shattered by the unexpected news that her life might be very short. Such a shock after anticipating a healthy baby is still something we struggle with.

But in hindsight, we’re glad we didn’t know earlier, and we’re very VERY glad our doctors didn’t know (even though we often ask what all those expensive ultrasounds were for if not to give them at least a clue at some point in the prenatal healthcare journey).

Once she was cooing in our arms we didn't have time to wonder how it got missed. Our focus was on Anne. Our only desire was to love her for as long as we had with her. Our desire was to rally along side her so that she could shine forth her own person--her own remarkable and wonderful person. Our job was to believe in her and love her just as she was--and she was so very spectacular! What a remarkable person she was...

She proved herself to be such an awesome baby---so very sweet and sparkly; alert and vibrant; reactive & interactive. She had a great little character with a great personality! She wanted to be part of us as much as we wanted her. Her awareness of us and interaction with us was incredible.

We were amazed at how much love she exuded. Of all the things about her, I miss that the most---she was so loving for such a tiny little creature. She reminded us that the human condition is designed to give & receive love, and no DNA disability ever alters that fact. It makes us sad to think of how much love she could have accomplished in her life if only someone had helped her manage that troublesome little hole in her heart...

Sadly, the university hospital policy was to retreat on any specialized cardiac care when trisomy 18 is indicated. They told us bluntly that Anne wasn't even a candidate to see their cardiologist once her trisomy was confirmed. Across the board, patients with a trisomy 18 diagnoses are brushed off for dead--even those who hold promise for survival; and thus no wonder so few trisomy 18 patients survive! We were unprepared to seek medical help outside our state. We will always struggle with sorrow over the fact that we didn't do more to find better medical care for her.

It crushed us that if the largest teaching hospital in our state wouldn't help us, then who would? Who would step up to the plate and offer specialized medical care for a patient who was still very much alive; a patient who was not dead yet---a patient that just might NOT die if given the appropriate medical attention.

Admittedly, it still makes us angry to think about how difficult it was to get them to see our daughter as a living person once they labeled her as “incompatible with life.” She is dead now, but she wasn’t then, and the care they deprived her of speaks emphatically of medical politics that must be changed.

Medically, all we had was Anne’s pediatrician to help us with her complex VSD and specialized trisomy 18 needs. And as much as we loved Anne’s doctor, she was inexperienced in trisomy 18 and VSD--although she did go the extra mile to help us with a plethora of information about non-surgical VSD management. We came to learn that Anne's VSD could have been very well managed with simple medicines before even considering surgery. She even hinted that with proper cardiac management, Anne just might grow big & strong enough to have the surgery to repair her VSD.

Anne’s pediatrician was one person who cared & took action beyond the medical policies. We'll always appreciate her for that because she was THE ONLY doctor or medical personnel we encountered that actually practiced with hope rather than gloom.

In fact, it was once she put Anne on a simple cardiac medication called lasix, that Anne really started to shine. It worked great at controlling Anne’s pulmonary edema that took so much toll on her. We came to learn later, albeit too much later, that in other parts of the country there are pediatric cardiologists who would have worked with us in spite of Anne's trisomy. Sadly, our state is sorely lacking in sound medical care for such patients.

We firmly believe that with a little better cardiac care she just might have kept on going a good while longer. It's now our fervent aim to see more cardiologists take interest in caring for trisomy 18 children.

Hospice: Help or Hindrance

So with our heads spinning and our hearts crackled, the university sent us home with their hospice team for death comfort. We had rallied for home health care nursing, but they wouldn't hear of it. Regrettably, hospice only specializes in death, and they didn't understand that our fervent hope was for Anne to defy their assumptions.

Once we were home, we came to learn that hospice’s perspective on trisomy 18 maintained even less hope than did the university personnel we'd encountered. And yet how little the hospice team knew about trisomy 18 children who were living nation-wide and throughout the world. In our relationship with hospice, We found ourselves in a place where NO ONE but us ever expected Anne to grow or thrive. They were a great help in preparing for Anne's death, but we were virtually abandoned in having anyone help us to prepare for her living. We needed medical providers with a dedicated purpose to do both--preparing for life first then death, not vice versa.

Gratefully, Anne's desire was to live and she set out to meet her parents’ expectations for life rather than that of hospice's expectations for death. She proved herself by gaining over 3lbs & over 3" in growth before she died. She was smiling and lifting her head and very much responding to the world around her. For the time being, the $4 lasix was our simple solution to a complex problem.

To our dismay, hospice decided to take Anne off the lasix--a decision made independently of our pediatrician--why we don't know. We've speculated, we asked, they avoided giving a sound answer... We struggled & turmoiled over their decision. Of course, the trisomy 18 diagnosis covers their liability with no legal or moral culpability.

We don't know what motivated them to make such a decision when a simple $4 bottle of lasix was helping Anne overcome her cardiac issues. We do know that they had a policy of "no curative measures" and the lasix was doing a lot to give Anne a living future.

Our experience with hospice was very much a double edged sword in that they were kind and available to assist us with the medical care of our child, but they were also rather like "gentle vultures" always seeming to want the "inevitable" to hurry up.

So ultimately, for whatever reasons, hospice discontinued Anne's lasix and she died of congestive heart failure within 10 days of their directive.

Our pediatrician was stunned. She had even compiled a plan for increasing dosages to accommodate Anne's growth & weight gain. The first thing she said when we told her that hospice had discontinued the lasix was: WHY? That's the million-dollar question that we'll never get an answer to.

Bottom line is that many medical and hospice agencies brush such a patient off as dead before they really are--death is their job, and trisomy 18 has a certain status quo that most medical providers are unwilling to change.

Additionally, it's important for us to make people aware that Anne died of congestive heart failure. Her heart failed because of VSD--ventricle septal defect. A small hole in the lower ventricle of the heart. Trisomy 18 often causes VSD. And yet, VSD is also relatively common in NON-trisomy newborns as well. Those patients routinely have their VSD dilemmas treated without quarrel.

Moreover, it's important for us to explain that even though Anne died of congestive heart failure, her death certificate indicates that her immediate cause of death was trisomy 18. This is a gross medical inaccuracy!

In truth, it was not Anne's trisomy that killed her as much as it was her untreated heart defect that was to her unfortunate demise. And yet, Anne's death certificate indicates congestive heart failure, not as primary cause of death, but as the TERTIARY cause. And thus we deal with medical politics even in the certification of her death.

Such medical inaccuracies in diagnostic record keeping may seem like insignificant semantics to many, but such records are what create medical statistics--which in turn, lead doctors to believe (and advise) that ALL trisomy 18 is "incompatible with life." Medical policies are then instated that may have detrimental consquences for patients with trisomy 18.

Such practice is neither fair, nor medically accurate. Additionally, such medical practices then make it "ethical" for medical policies to be created that then deny better specialized care for those patients who would benefit most. This must be changed!!!

Politically, Anne was deemed a non-candidate for any cardiac care thanks to her trisomy diagnosis--a diagnosis which very few doctors know anything about.

In spite of their trisomy politics, she loved & grew until her VSD couldn't maintain her life any longer. She died at home in her mother's arms June 28, 2005 at 11:03pm.

By the goodness of God's Redemptive plan, we will meet Anne & Abigail again on the Other Side of the Rainbow.

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Thank you so much for your words.
My Daughter has just as of yesterday, been given the news of her Son (due in July) has Edwards syndrome. They say he has a hole in his heart and a curved spine. This was from a sono pic. Everything I have read Rhys far is so awful. To me a baby is a gift regardless. Although this news has saddened our hearts and I fear what could be the outcome. I was frantically searching and looking for a sign of some kind of love and joy. You had that, even if for a short time. You had it! I am so sorry for your loss but atctge same time I am so very happy to have found your story. To know that "yes, they are children"! They are loved and they are! Thank you so very much for sharing. So hard I know...

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Melissa
Sun, Feb 08, 2015
In reading this I can't imagine the pain,frustration,and hurt you all must be going thru, I am 17 weeks and my screening showed signs of possible trisomy18 but ultrasound showed nothing I'm completely scared as to how soon they can give up on or call a child life incompatible.... You are in my prayers..

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