Trisomy 18: Rolling the Dice

Trisomy 18
You do your best to survive whatever way you can. But sometimes, something jolts you.
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You do your best to survive whatever way you can. But sometimes, something jolts you. You read about a couple abandoning one of their twin babies for being diagnosed with Down's Syndrome, or Trisomy 21.

The dam that is the mind is once again opened up, and the mad, rushing, tumbling waters of muddy thoughts push forward unhindered. Thoughts like: the cold-heartedness of parents and the very human propensity of taking the easy way out.

I remember the day the partner of my cold and distant obstetrician informed me of my right to undergo, or not, an amniocentesis. I was 34 years old when I got pregnant again for the third time, and because my first pregnancy was a miscarriage, I weighed in and rejected amniocentesis for its low risk of a miscarriage.

My first trimester was all about nausea, 24/7. By second trimester, it eased off. Come third trimester, the baby wasn't moving. Finding it strange since my first-born was a strong kicker, I insisted for an extra ultrasound. Sadly, they found something wrong with the baby at 34 weeks of gestation.

Because my husband refused to accept it, we were advised to go to a perinatologist. Alas, at 35 weeks of gestation, it was confirmed that my baby has Trisomy 18. They said the single umbilical artery (SUA) of the fetus at the second trimester ultrasound should have been checked. Strangely enough, it was missed.

Almost in a daze, my husband and I walked hand in hand, with my husband carrying our 18-month old daughter. Inside our minds and hearts were disbelief, despair, anger, fear, pity, confusion and sorrow.

Did I want to abort? I was asked by the second perinatologist we went to. The window for a legal abortion in the USA had lapsed and to Turkey I must go, I was told. My mind balked at going to Turkey for an abortion.

When is information hurtful? It's when you're home using the internet: when facts, pictures and opinions, get mixed up with your fears and imagination. Counting the slow passing of days was pure torture: the beloved baby within, somehow morphing into something alien, frightening.

At 36 weeks of gestation, I could not take it any longer. Since my first born was a Caesarian birth, I requested if I could have my second C-section at 37 weeks of gestation. The hospital obliged.

Baby Lia Mae was born crying! Again, another moment when your mind and heart just turn numb. The doctor held the baby up against her belly so my husband, who was seated next to my head, and I could see her. We already knew her gender beforehand when we specifically asked for it during the third trimester ultrasound. I was so ecstatic: my Ava will have a sister just like I do. I truly believed nothing is more special than having a close sibling.

With as Apgar score of 8(!), the feeling of disbelief swept again. In our eyes, newborn Lia looked like any other normal baby. A bit small maybe, but still normal. They put her in the neonatal unit while the distant cardiologist informed me in his professional voice that he could not do anything for Lia's heart defects because of her underlying diagnosis of Trisomy 18. I will never forget his coldness, I think.

Since she could barely suck and swallowing is a feat of its own, a nasogastric tube was placed in her nose for nourishment. She wasn't requiring any respiratory assistance.

For the two weeks that she was in the hospital, we were called three times to go by her crib side as they thought she was dying. You see, they had advised us to sign a Do Not Resuscitate (DNR) form because Trisomy 18 is not compatible to life.

However, every time we'd pick up Lia, her blood oxygen level would go up instead of down!

Finally, the decision to bring her home came at hand. They offered us three procedures: Nissen fundoplication to tighten the top of her stomach so that its contents won't travel back up and go to her lungs whenever she vomits (of course no one told us this will ensure a better quality of life and even maybe prolong her life), a g-tube so she no longer needed to have the nasogastric tube to go down her nose, and heart surgery to fix her PDA (patent ductus arteriosis) which normally closes soon after birth but didn't in hers.

My husband said no to all the surgery, he wanted the baby home and I acquiesced.

The pediatrician who already contacted New York Founding's Elizabeth Seton Pediatric Center's medical director put down the phone, looked directly at me and asked how I will manage a toddler and a terminally ill newborn. Soon, the pediatrician quit her practice and I felt abandoned.

Although we were taught how to put in the nasogastric tube; how to suction her nose and down her throat if she's choking, how to work the feeding machine, how to give her breathing treatments, medicine for gastric reflux and pain reliever that didn't really relieve any of her pain, everyone believed baby Lia would die -- sooner than later.

Our recent move to New York City had turned into a mockery; almost like a test. Bored in the suburbs because one can't drive and forever homebound? Move to the city that never sleeps! And sleep I didn't get. 24/7 I took care of baby Lia, with her older sister relegated to the middle of the king bed watching cartoons on TV. The time that I wasn't attending to Lia, I was in front of the computer: that was the time I discovered the therapeutic effect of online shopping.

How to describe the horror of it? Lia would cry then turn blue. In a panic, I would turn on the portable suctioning machine, rip open a new suctioning tube, then put it down her throat. Did I know what I was doing? Not really. The sight of newborn eyes open in fear and panic too made it worse. She was turning blue so regularly that whenever I would turn on the suctioning machine and put the tube down her throat, poor Ava would scream: "No, Mama! Don't hurt her!" Ava started learning a lot of things not normal for the average toddler to know—she saw and heard everything.

At night, I hardly slept. Insomnia was such a beast and Lia's crib beside me with her round-the-clock medications, her choking episodes, her constant drip feeding because she could not handle bolus feeding -- a lot of milk in a short time -- and her inevitable vomiting, then suctioning -- were a different kind of monster all together.

How I survived, I do not know. But soon enough, I burnt-out. It didn't help that we were in a perpetual state of pre-grieving flux as we prepared ourselves for her eventual and immediate death, then recovered, as Lia, instead of dying, continued and continues to breathe.

Her constant struggle for survival, the repetitive rotation of going in and out of emergency rooms and hospitals, her appointments with specialists: pulmonologist, cardiologist and gastroenterologist, and coupled with our emotional, physical, mental and spiritual stress with parental guilt, exhausted us and left us no room for laughter, entertainment, play, or travel. Or we did not permit ourselves to have them.

We lived in a sad, twilight world. While other mothers complained about toddlers not eating their vegetables, we were at a loss as what to feed her so her body accepted the food and did not reject it by vomiting. Pre-digested milk from one brand to another, we must have tried them, all to no avail: vomit came along with the feeding. The constant crying, pain, and suffering of Lia was merciless -- what did she do to deserve this?

You pray for mercy, but there was no mercy even when Lia ended up in the "sub-acute facility" -- so called because my husband's mind couldn't wrap around the idea of his baby being put in an "institution." I demanded she be placed there after burning out and after having the dark mad fantasy of putting a pillow over her face to end her suffering.

Everyone sure got the short-end of it. Ava, who initially had all my attention before Lia, then being ignored. My husband over-worked himself and I obsessed over the internet. I didn't really find solace in it; it was more like distraction. I would pick a product and choosing from all the websites the cheapest price was strangely fulfilling.

The other route, that of God, never did work. I prayed for mercy that never came. So I turned to philosophy and practical matters: I demanded a g-tube because putting a nasogastric one up in Lia's nose was making me a sweating wreck: had I really placed the end of the tube in her stomach? I was never sure.

When Lia was about to turn 1 year old (hurrah, she's a "long-term survivor!" as most Trisomy 18 babies die within the first three-month period) she received a minor heart surgery to close her PDA. Without it, it was sure death. And death, we had already said no to many times: in the privacy of our home prior to her being institutionalized, the emergency room visits and hospitalizations for viral pneumonia and bacterial pneumonia (when her stomach contents and her saliva all ended up in her fragile lungs), and finally, to the ultimate, when despite her standing DNR, we rushed her to the emergency room so they could revive her.

Was there an angel beside Lia then? Someone who may have whispered in my ear not to put Lia in her chair in the backseat of our car beside her sister Ava? You see, while we were walking to the car, she vomited but since her suctioning machine and tube were not with us, she was left unsuctioned and I felt strongly that I should carry her on my lap in the front seat.

Sure enough, as we were on our way to the pediatrician, I noticed that Lia had stopped breathing. Her face was peaceful for once, her body almost lifeless except for the visible ticking vein on her neck.

I said to my husband, "This is it, the thing that we have been waiting for, the reason we had signed a DNR." But my husband could not take it and twice I asked him if he was sure. And so he drove to the nearest emergency room. It was a strange time—it was like everything was moving slowly in a haze. And then the car stopped, and I ran inside the emergency room.

The minor heart surgery soon followed in a different hospital. It was also the time I requested for both a g-tube and Nissen fundoplication. My husband and the doctors were against both. But I saw an opportunity when I saw Lia's heart surgeon and asked him if Lia can then have the g-tube placed, now that she has recovered from the heart surgery. And he said "Yes, of course."

Lia came home again when we got a better insurance that provided nursing care for Lia. That's when we realized love can never compete with medical care when the subject is a terminally ill baby. All the love in the world cannot make her life any easier, only the medical community can.

We believe Lia is happy at her new home where doctors, nurses, therapists, and teachers work hand in hand seamlessly to care for her, together with the other kids with various and serious terminal illnesses and diagnoses.

With Lia "gone" from home, it took a while, but finally, Ava stopped her behavioral vomiting at home and in school. My husband's career took off and I believe I am now in a better place. Is there regret that we did not take the usual route of reaching out and mingling with the Trisomy 18 community? There is none really on my part. Why would I want to see how an older Trisomy 18 baby would look? It's painful enough looking at my own baby. And the rest of the babies in the pediatric center with all their missing body parts, the misshapen faces, their comatose-like state, babies with portable ventilators, babies with tracheal tubes.

Nine years and counting, and yes, one never gets used to it. I guess I'm just sensitive that way. And in other ways: who doesn't shed a tear when you hear of mistreated animals? Sure, the disabled kids get the right and caring treatment they need and deserve but what about their voiceless pain and suffering? We will never know (or until science discovers it).

But clarity has indeed recently come my way: because I am against suffering, and for "quality of life," I am once again demanding a Nissen fundoplication revision as recommended by another new hospital, as her first Nissen had opened up. It may be hard again for my husband to imagine the risk of losing her if she undergoes this operation, but by God: Lia may not have a voice, but a mother's heart knows when her baby has had enough suffering.

 

 

A Poem For You, Lia As You Turn 9 This Year:

 

 

Alas, you are still here with us my child,

My grown up baby.

You look the same though it has been nine years.

 

Look at you

Strong, happy, living.

You have put a choke-hold on Death.

 

Death so gloomy; a persistent, insistent

Bug is Death. Its cousin Pain, a nagging shrew.

Relentless, but you are deaf.

 

You take whatever help is offered from mere mortals:

Pain killer; morphine is strong enough,

Doesn't cure but gives you rest.

 

We say weak but are you really weak?

They say dying; but you're not really listening.

To whose heartbeat do you listen to?

 

The beat is like music is like breathing

Is like life. I said dead, blue, no breath.

 

You said: I hear your heart, beating; your love

Breathing. To love IS to live. To live IS to love.

I live -- to love and to be loved.

 

We love you, Lia: LIVE.

Happy Birthday, Baby.

 

 

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