A Special Pregnancy Journal

Recently I started a private support group for mamas who receive a prenatal diagnosis. In putting together resources for them, such as a place they can access medical research for themselves and their health care providers (who often don't have personal experience with the kinds of diagnoses the parents receive for their child), I realized there was absolutely nothing out there for those mamas in the way of a pregnancy journal. All the ones I found were happy, happy, joy, joy. Having been through a pregnancy fraught with anxiety and fear over whether we would meet my daughter alive or not, I decided it was time to create a special journal that would address the different aspects of this unique situation. While some aspects allow mamas to focus on the joy of a new life and the positive aspects, other sections help them work through difficult topics such as what in the world to do about a baby shower and how to formulate a birth plan.

The journal may be purchased here (where you can also get a sneak peek at the inside by clicking on the image) and would make a wonderful gift for anyone you know who is devastated to receive a prenatal diagnosis. I would love to get it in the hands of genetic counselors, palliative care teams, pregnancy resource centers, and other professionals who work with women who are carrying fragile babies. If this is you, or if you know of someone who ministers in this capacity, would you reach out? We would be happy to discuss options for bulk ordering to make this resource accessible to others! 

Contents include: 

• Journaling pages plus prompts to help you remember details
• Space to record your baby's diagnosis and unique needs
• Appointment trackers
• Ultrasound photo keeper
• Ideas for a baby shower
• "Letters to My Baby" section
• Birth Plan Brainstorming
• Hospital Checklist
• And much more.

Mary's Prenatal Diagnosis

Christmas 2016 was not the most joyous in my collection of yuletide memories. I was "great with child," but even more burdensome than my cumbersome belly was the weight of anxiety heavy on my heart and mind. We were two months away from our due date with Verity (FT18), and though I had learned much in the couple of months since our diagnosis, I felt I had absolutely no idea what to expect in the days and weeks ahead of us.

This year, we are grateful and blessed to be celebrating our 4th Christmas with Verity Irene. And while our everyday life now is characterized by an unexpected sense of "normalcy," I will never forget the uncertainty and angst that blanketed our holidays that year.

I'm sure Mary felt those emotions as well! She had a "prenatal diagnosis," if you will--it was revealed to her that she would carry a special child, too! Can you just imagine the uncertainty SHE felt?! Where and when would she deliver her baby? What would the outcome be of a pregnancy that from the outside looked to be illegitimate? How would she attend to the special needs of a child who would be like no other?

God's heavenly purposes are carried out in each and every individual, including the precious babies who have an "anomaly." It is true that some are called to heaven before even taking a breath on earth. And it is true that some get to experience life only for a short time. Our thoughts and prayers are with those families who are mourning and missing those babies. And we continue to pray for the ones who are still growing and for the mamas carrying them, waiting for the next chapter in their own lives to unfold.

From the Jacobson family to all of you--I wish you a merry Christmas. May you savor the quietness of the season and experience true rest...may you know the grace and peace that only comes from the real reason for the season.

P.S. If you or someone you know has received a prenatal diagnosis, I'd love to offer encouragement and support. 

From Diagnosis to Delivery - A Resource for Moms with a Prenatal Diagnosis

It's been just over 4 years, but I well remember that difficult season of life: getting a phone call from my doctor and learning the baby girl growing inside me had what was considered a life-threatening diagnosis (Edwards Syndrome, or Trisomy 18). The following days and weeks were a living nightmare. My husband and I prepared for our baby's burial, and I was pretty much a weepy, emotional mess. Thank GOD for online connections! After about a month or so of feeling overwhelmed by negative information, we were introduced to online resources that actually showed REAL families living with children who had the same diagnosis. My eyes were opened to the positive stories of hope, and I began to turn my heart toward the idea of a different outcome than I had been led to believe initially. 

Of course, this also meant I had a whole different set of questions to address! The learning curve was steep, but as I look back, I can see how incredibly far we have come. Now our Verity is almost 4 years old, and our family absolutely adores her. I just cannot imagine life without her! But I will confess I was terrified to be the mother of a special needs child, especially when I already felt overwhelmed being the mother of 8 other children. 

From the moment of our diagnosis to the beautiful experience of Verity's delivery, my pregnancy was an emotional roller coaster. And beyond delivery came more learning. I won't say it's an easy road, but I wouldn't have it any other way. And because of the JOY and HOPE we have as a family (which ultimately comes from Jesus), I am now in a place where I am able to offer a bit of wisdom and experience as a resource for moms who have a prenatal diagnosis and are drowning in a sea of emotions.

We have a new private support group for those moms! I also have a free guide, From Diagnosis to Delivery. Please help spread the word! This is a journey best traveled with loads of support!

Where's the Hope?

On Thursday I checked our mail for the first time in a few days and found a sweet package for Verity. I love the message from my friends at Hope for Trisomy*. These tangible gifts of love and support brightened my day. (Thank you, Erin!!!)

On Friday I learned that Karson, a sweet, beautiful, recently-turned-five-year-old girl with Trisomy 18, went to be with Jesus. I had gone to bed praying for her after seeing her mama's frantic post about a last-ditch effort to save Karson with ECMO. It didn't work.

Where's the hope in that?

This jolt to the Trisomy community reminded me of another recent bitter loss. On the 4th of July I saw photos of smiling Maddy radiating sunshine in her red-white-and-blue, and the next day she was gone. Just...gone.

Where's the hope in that?

My sweet friend Kirsten was forced to say goodbye to Heath, a special needs boy who left her womb early to join brother Gavin (who had Trisomy 18) in heaven.

Losing two special boys back to back. Where's the hope in that?

Fernando went to heaven on Good Friday, just before getting to celebrate his 4th birthday. He left behind loving parents and a proud big brother who wanted to tell his new class last week all about how special his brother in heaven is.

A grieving family left with only memories. Where's the hope in that?

As I sit reflecting on what is happening in our little Trisomy world, I ponder and pray for families who are facing chemo...getting tests done and waiting for answers...preparing for open heart surgery...caring for their little ones through sicknesses at home and in the hospital. (We ourselves are on the tail end of a fight with aspiration pneumonia that landed Verity in the hospital for a brief stay.)

In the midst of it all...in the midst of tests and sicknesses and therapies and surgeries...we hope.

Hope for Trisomy? Yes. Yes, there is.

Our own Trisomy journey has taught us that hope looks different at various points along the way. During pregnancy, I hoped I would meet Verity alive. Now, 18 months later, we have hope that someday Verity will sit up by herself, move herself around (whatever that looks like), and communicate with us (whatever that looks or sounds like).

We have hope that we will have many more experiences with our girl this side of heaven.

And yes...even though we don't really like to think about it...our hearts still hold onto the truth that ultimately, we DO have the hope of heaven awaiting us, an eternity in which Verity and her Trisomy brothers and sisters will laugh, sing, dance, and play without hindrance.

I can't pretend to know how it feels to lose my child. I only know how hard it hits me, every time it happens, even though in most cases I've never met the family in person. But the death of a Trisomy child affects everyone in the community. It's all too easy to put ourselves in the place of the grieving parent, because it's something we've all imagined happening, whether we admit it to others or not. But does the threat of death remove all hope in life?

What about this? Does the reality of a difficult life remove hope FOR life?

It's worth pondering. I remember the point during my pregnancy when I realized it was time to stop preparing for Verity to die and start preparing for her to LIVE. And I had to face the fact that her LIVING would look much different than any of our other children's lives.

Where's the hope in that?

Where's the hope?

I'll tell you. I see hope every day. I see it in the smile of a little girl who didn't smile for months. I see it in the giggles and grins she now gives her brothers and sisters. I see it all over her face when her daddy comes home and sings her special song. I see it in the twinkle in her eyes when she pushes against me wanting to be rocked. I see it in the kicking of her legs, the workings of her fingers, hands that used to be clenched so tightly. I see hope in motion as Verity rolls herself and works hard during therapy, doing things we never dreamed she could do a year ago.

I see hope in the form of a wheelchair that will grow with her. I see hope in the form of a committed family chipping in to make sure Verity has what she needs when she needs it. I see hope in the love and care her nurses have for her as they cheer her on each day and night they spend with her. I see hope in a medical community at large that is finally starting to understand the potential our kids have to grow and thrive with proper interventions.

I see hope everywhere Verity's life shines.

And it's a beautiful thing.

"...and we rejoice in hope of the glory of God. Not only that, but we rejoice in our sufferings, knowing that suffering produces endurance, and endurance produces character, and character produces hope, and hope does not put us to shame, because God's love has been poured into our hearts through the Holy Spirit who has been given to us." --Romans 5:2b-5

*Hope for Trisomy's Addy Grace gift is inspired by the life of Addalyn Grace, who lived for 26 months with Trisomy 18. Sweet Addy was one of the "older" children I connected with through my newfound online community. Her mom, Erin, did a special post every day in March (Trisomy Awareness Month), which I looked forward to every day since at the time I was in the NICU with our newborn Verity. Erin's love for her only daughter was so evident...even more, her love for Jesus shone in every post. My heart broke when Addy unexpectedly went to heaven. Through the heartbreak, Erin and Jay continue to express the hope found only in Jesus Christ. They continue to be active in the Trisomy community and have touched far more lives than they will ever know.

What a Difference a Year Makes...

September 22, 2016: An unexpected call from my doctor. Learning what Trisomy 18 is.
September 26, 2016: A diagnostic ultrasound showing T18 markers. An amniocentesis.
September 27, 2016: The phone call from the university medical center.

One year ago we learned for sure that the baby girl I was carrying in my womb had Trisomy 18.

One year ago we were fairly certain our baby girl would not live very long.

One year ago life as I knew it changed, never to be "normal" again.

One year ago, when I was crumpling under the weight of uncertainty and grief, God raised up an army of encouragers to remind us daily that we were not alone.

One year ago we named our baby and talked with her older siblings about the meaning of her name.

One year ago I simply could not fathom what our lives would be like in a year.

One year later...one long, short year later...?

Today we know that Trisomy 18 itself is not a death sentence.

Today we know that Verity Irene is very much compatible with life.

Today we know how to use a feeding pump.

Today we know it is possible (although not preferable) to operate on extremely scant sleep.

Today we know dozens of families (if not more) in the Trisomy community.

Today we know how to follow our gut and not blindly accept "medical certainty."

Today we are grateful for the many, MANY people--Trisomy parents, doctors, nurses, therapists, specialists, and our own circle of family and friends--who helped us prepare for Verity's arrival and have cheered us on ever since, treating her as the beautiful child that she is, NOT as a diagnosis.

Today...today I am overwhelmed with gratefulness. I have no idea what the next 365 days will bring. But I am grateful for what we have learned, how we have grown, in the last 365.

Today...September 28, 2017...today Verity Irene is 7 months old.

What a difference a year makes.

Assessments

RESPIRATORY SUPPORT
After Verity was born, of course the next thing to determine was what exactly her immediate needs were and what could be determined about her future needs. Clearly she had to have respiratory support, but we were thrilled when the CPAP and mask were removed within the first 24 hours and she moved to room oxygen through a nasal cannula. Even more astonishing was seeing her come off oxygen altogether on Day 5 and having her do so well; we are now on Day 6 and she hasn't had to go back on it!

Apnea is a huge issue with Trisomy babies. I asked the doctor about an apnea study, and she said they rarely do actual studies, but the monitors themselves are apnea studies--and nothing in all of Verity's monitoring has indicated any problems with apnea. I am encouraged every time I look at her monitors and see such regularity--perfect little heartbeat, high oxygen sats, rhythmic breathing...this changes when she's mad, lol, but even hearing her lusty cries makes me smile instead of panic. The nurses all know when Verity needs attention!!

FEEDINGS
Next: feedings. We figured she would need help eating, as almost all Trisomy babies do. She got an IV right away, followed by gavage feedings (through a tube, first in her mouth and later through her nostril--she did NOT like THAT process!). We were given a bottle of donor milk for her use, but after that was finished (a few days in), we did have to start using formula to supplement my own supply. But thankfully it shouldn't take too long before she is solely getting her nourishment from my breastmilk. The IV supplements stopped on day 2, and as with the oxygen, she didn't go back! Feeding amounts have steadily increased, and she has tolerated it all very well. She has no problems eliminating and really, really hates pooping and being in a dirty diaper! She lets us know when she's having a BM and clearly expects us to do something about it!

The last couple of days we have seen her respond to the breast, enough that my nurse today would really like to help us move toward breastfeeding first with gavage feedings afterward. I am hopeful but find it hard to be as optimistic as she is...still, Verity has defied all kinds of odds so far, so who knows?! She has latched and sucked several times during several different attempts, so while we haven't had any sustained suck-and-swallow action, all indicators are there that she CAN do this. (And for the record, she loves sucking on a pacifier!)

We have not done an official swallow evaluation; things look good, but I plan to ask if there are other more official things we can do in this area to give us the best possible chance of successful feedings.

BRAIN SCAN
We had requested in our birth plan to have a brain scan done, and that was in fact accomplished right away. Everything looked fantastic!

HEART ISSUES
We had also requested an echocardiogram, even though careful examination of her heart during the prime viewing period of my pregnancy indicated that she had no heart issues. It wasn't terribly surprising but was still rather discouraging to learn that there are, in fact, heart issues. Verity has 3 VSDs, basically 3 holes in her heart. Two of them are small and may very well resolve on their own; they are not concerning. The third, however, will require surgery before she turns one year old. This is very, very common for our Trisomy babies, and the fact that Verity has already proven to be a strong, healthy little girl bodes well for her surviving surgery. We were extremely encouraged when her heart did not show signs of distress when her oxygen was removed. While surgery isn't something in the immediate future, it could very well be a procedure that needs to happen before the military moves us in July. We would appreciate prayers for guidance in this area and that we get matched with the right team of specialists. We will be meeting with cardiologists tomorrow; so far we have only discussed this with Verity's NICU doctor (whom I absolutely ADORE) and the geneticist.

GENETICS
All of Verity's positive (and fast) progress is making us wonder if perhaps the amnio results gave us an incorrect diagnosis: perhaps, instead of full Trisomy 18, Verity may actually be partial or mosaic Trisomy 18. It is worth investigating, and if our insurance would pay for it, we would like to have her tested simply because it would help us adjust our expectations and allow us to do more research and investigating since we have focused our efforts on learning about FT18 and haven't read as much about PT18 or mosaic. Here are the differences according to www.Trisomy18.org:

Types of Trisomy 18:

• Full Trisomy 18: The most common type of Trisomy 18 (occurring in about 95% of all cases) is full Trisomy. With full Trisomy, the extra chromosome occurs in every cell in the baby’s body. This type of trisomy is not hereditary. It is not due to anything the parents did or did not do—either before or during pregnancy.
• Partial Trisomy 18: Partial trisomies are very rare.  They occur when only part of an extra chromosome is present. Some partial Trisomy 18 syndromes may be caused by hereditary factors. Very rarely, a piece of chromosome 18 becomes attached to another chromosome before or after conception. Affected people have two copies of chromosome 18, plus a “partial” piece of extra material from chromosome 18.
• Mosaic Trisomy 18: Mosaic trisomy is also very rare. It occurs when the extra chromosome is present in some (but not all) of the cells of the body.  Like full Trisomy 18, mosaic Trisomy is not inherited and is a random occurrence that takes place during cell division.

Regardless of whether Verity has full, partial, or mosaic Trisomy 18, as you can tell, we are all pretty smitten!! We love that so many people around the world are praying for Verity. I hope you will do some searching to find other Trisomy families and read about their stories as well. Many of them have become friends of ours during this journey, and I am in awe of each precious life as well as the support and love shown through parents, siblings, and the villages rallying around these precious gifts.

When Caregivers Don't

Can we talk for a moment about how "pro-choice" often means its supporters are only "pro" the "choice" IF it's the choice to murder the child? For those of us carrying special needs children, the CHOICE to give that child life, even if that life doesn't "look" the way others think it should look, frequently is not a choice that is respected. In fact, it is fought against. Doctors often argue against carrying these babies to term. They resist parents' desires to be treated normally throughout the pregnancy and after delivery. They urge termination, and, failing to convince, wash their hands and instead refuse life-giving care measures, no matter how relatively insignificant.

If you don't believe me, take a look at some of these comments from parents on the Rare Trisomy Parents page on Facebook...

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We had known about these things [heart defects] for a few months. We delivered [Jan. 12, 2017] and they told us the next morning she also has T18. The doctors at [hospital name] denied us surgery and told us she would die. 

We are in Ohio and our hospital refused to do the repair for my daughter’s heart; she had a very large vsd, moderate ASD and a PDA. They were all repaired at [a different hospital].

My general OB scheduled my termination when he got the results of my amniocentesis before the news was transferred to me. Told me my daughter would end up being institutionalized if I kept her. Needless to say I switched practices and delivered her at 38 weeks. Evelyn Grace is full of Grace and thriving!

Doctors said some crazy things like "it won't be worth it to fix her heart because it won't change the outcome for her. She's going to die from something else." And a surgeon declined to perform her tracheotomy because he couldn't deal with the "ethical considerations of performing this type of invasive surgery on someone who can feel pain but will never be capable of emotional connection." She just turned 2.

FT 18…she's 4 months old. I was told to abort her numerous times and said she would never survive! I had to be induced at 42 weeks pregnant! I was told she would be a vegetable if she would survive. Lucy has congenital heart defects but with full intervention she is bringing her sunlight into this world and doing wonderfully.

When Penny was tentatively diagnosed via ultrasound, I was given the number of days I had to terminate before we'd even had the screening back to confirm.

I was told my Jett [Trisomy 8] would pass away in the womb or never make it through delivery. I was told he'd have an immense amount of deformities. I was encouraged to get a late term abortion when I was diagnosed with preeclampsia. My son lived seven beautiful days and his only "deformity" was a missing fingernail on his left pinky. He touched SO many lives in his short life. I would do it all over again. 

The only option [initially] given to us was to terminate our baby. We had our obstetrician appointment today….he said that I am likely to miscarry him anyway….he said he wouldn't think that any pediatrician would treat our son because of the T18. I just feel like everywhere I turn I'm confronted by the attitude that he is sub human & not worth fighting for. I have had the comments by loved ones of maybe that's why it's better to terminate so the baby doesn't suffer (not a valid argument & not mine or my husbands choice anyway) & "I don't want to hold a dead baby" when talking about family involvement when he's born.

This diagnosis is very difficult. We found out at 12 weeks and termination was pushed during the next 5 appointments. It wasn't until I was 5 months pregnant that actual support was offered to me.

My youngest is Jonas with a kind of PT18. We had big fights for him since doctors denied him treatment for a long time, and he had pain because doctors didn’t believe in him. Now he is 3.5 years old, and doctors have admitted they were totally wrong.

After the blood test, another ultra sound and an amino, it has been confirmed that my little girl is positive for T18. The genetic department, specialist and my OBGYN are all without any hope or support. I began researching online only to find that babies born with this are not automatically doomed. I have looked in my area for support and information only to come up empty. I am a single mother of four other children as well. I currently have only the state insurance and fear this will impact any medical help my daughter could otherwise have.

 I wasn’t given much hope either during my pregnancy. In fact my OB said it was better not to get my hopes up.

We were not given any hope; everything the dr told us was very negative. We left the hospital with hospice care after being in NICU for 2 weeks. Our daughter will be 4 yrs old in less than 20 days. She has continually proven everyone wrong and surprises us every day.

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The above comments are from families of living Trisomy children (mostly T18) and don't even reflect the countless stories of children who were given dire diagnoses during their mothers' pregnancy only to be born perfectly healthy. How many times have medical predictions turned out to be completely wrong?! Enough times that urging abortion at the first sign of impending "problems" is definitely out of line! Even when there ARE "problems," many special needs children are well loved, a joy and blessing to their families. It is an insult to them at the very least to say that abortion is the only answer in situations like these.

We have been blessed to have regular appointments with medical professionals who are kind, compassionate, and generally understanding of our desires to support Verity however we can--at least during pregnancy. Honestly, I am not entirely sure what will happen after she is born. We are making our intentions as clear as we can, but if we run into major issues and she needs significant support, I am not familiar enough with folks at the university medical center to know exactly what their responses will be. 

One of our many prayers for after Verity's delivery is that God will graciously make the hard decisions for us...that we won't be faced with having to decide about something that isn't clearly right vs. wrong. Our deepest desire is to bring Him glory in all things, and we pray daily that Verity will fulfill the purposes God has for her life, however short or long it is here on earth. And the last thing we want to do is muddle through murky territory trying to figure out how to help Verity physically and yet somehow unintentionally hurting her or causing other people who are following her story to miss seeing God's hand in everything that is happening.

But regardless of how the details of Verity's earthly life play out...the fact is, SHE IS ALIVE. Very much so, according to the movements in my belly! And she deserves the same opportunities to live, breathe, grow, and thrive as any other baby who is born alive. 

Prayerfully, families like those represented in our Trisomy community will help change the culture in the medical world of assuming the worst. And prayerfully, caregivers will remember their higher calling to care for and support LIFE instead of encouraging death.

Verity Is Our Baby...Not a Diagnosis

Understatement: Continuing a pregnancy with a high risk of miscarriage or stillbirth is a difficult, emotional journey. It is even more complicated when considering that should the baby survive birth, he or she will have special needs and a shortened life span, even if "exceeding expectations."

As my husband and I have learned from personal experience, the input we receive from medical professionals along our journey contributes in a huge way to either lightening our burdens or adding to them. The research article I want to highlight today is titled "Our Children Are Not a Diagnosis" (full citation at the end of this post), and the pointers offered to health care providers (HCPs) rang so true when I read them that I felt the information was worth shouting to the world!

First, I want to share some feelings and experiences common to parents who choose to continue pregnancies despite diagnoses of fetal anomalies. Since the research represented input from parents of 107 children with full T13 or T18, I feel we are in good company, with many of the quotes and answers resonating with our personal feelings and experience. Quotes from the article are in italics; I will follow with commentary about our own experience.

Facts:

1. "Parents experience intense grief reactions regardless of the choice they make. However, parents who were offered support and who chose to continue pregnancy described a positive experience in all explorative descriptive studies."
2. "The majority of parents felt some HCPs did not view children with T13-18 as unique children and that they did not look beyond the grim statistics of these conditions." [This has been true of two of the doctors we have consulted with at various times--but not of the providers I have seen at the military treatment facility.] After diagnosis, parents report being told that:
• Their baby would likely die before or at the time of birth [Check]
• Their baby would not live more than a few months [Check]
• The condition of their baby was lethal or incompatible with life [Insinuated if not in these words]
• Their child would be a vegetable [The actual word spoken to me was "retarded."]
• Their baby would destroy their family or their marriage [Check]
• If their baby survived, he would live a meaningless life or a life of suffering [The word used here was "futile."]
3. "The majority (61%) of parents reported feeling pressure to terminate their pregnancy." [I am pleased to say that none of the HCPs I have spoken with either in person or on the phone has even suggested this, but this perhaps may have been different if we had not begun EVERY meeting by firmly telling that particular HCP that abortion is NOT an option for us.]
4. When first hearing about the diagnosis, "The most common hope was that the child would be born alive and that parents would have a modest amount of time to spend with their child.... Parents report understanding the implications of the diagnosis and only a few had hopes for a miracle or a cure. These modest hopes reflected acceptance of the serious condition." [This is certainly true for us. I don't want or need HCPs to paint a rosy picture for us. We are well aware of the facts. I DO want them to understand the not-so-negative facts, though.]

Ideally, parents who receive a prenatal diagnosis should also receive the full range of information, including new data about these conditions. The spectrum of outcomes for T13 and T18 babies is extremely wide. With a disproportionately high number of these babies being aborted, the statistics we do have are already skewed. But while the traditional view is to describe these conditions as "lethal" or "incompatible with life," the truth is that when interventions are provided, particularly for those who do not have severe anomalies, the one-year survival rates have been reported to be as high as 56% (in some Japanese studies). And as I learned from the article referenced in my last post, early interventions can make a huge difference in how long a T13 or T18 baby lives after birth. It is true that life spans are still significantly shorter, with a small percentage making it past one year. But why not allow parents the opportunity to make and cherish precious memories no matter how long their child lives?

The article featured in this post concludes with the paragraph below, followed by a list of suggestions to assist HCPs in providing optimal prenatal care. I encourage you to share this post or these suggestions with anyone you know in the medical field; it is obvious that some of the doctors I have seen have not encountered a trisomy 18 pregnancy, and they just aren't sure what to tell me other than parroting the statistics that indicate our daughter will likely die sooner rather than later. In general they are kind, compassionate, and non-judgmental; but neither do they understand that T18 isn't necessarily an IMMEDIATE death sentence. I hope to provide people like them with information that gives a fuller picture of the range of possibilities.

"HCPs need to understand parental perspectives and realize that while T13-18 cannot be 'cured,' the children have value and meaning to their parents regardless of life span and disability. HCPs can provide many positive actions to prepare parents for the life or death of their child. All these interventions result in a measure of 'healing' without cure. Pictures are worth a thousand words. The contrast between family pictures and the pictures of children with trisomy 13 and 18 found in medical texts is striking and demonstrates the contrasting representations of children with these conditions....

Based on the information obtained in this study from parents who continued their pregnancy after a diagnosis of T13-18, we offer suggestions to assist health care providers to provide optimal prenatal care:

1. At the time of diagnosis, provide accurate survival figures. Avoid words like "lethal," "incompatible with life," and "vegetable." Avoid value-laden language related to disability.
2. Parents should be informed that most parents who choose to continue pregnancy have reported a positive and enriching experience regardless of the lifespan of their child.
3. Parents who decide to continue their pregnancy need support, not judgment or pressure to change their choice. Parents accept that early death is likely and they have chosen to value the time they have, both before and after birth.
4. Remember that to these parents, their child is a person, not a diagnosis. Refer to the unborn child by name, if possible. Parents expect to receive medical information related to their child, not to the diagnosis. Informing parents of normal organs in addition to anomalies is greatly appreciated. Offer hope when it is reasonable: hope that baby will continue to grow in utero, hope that baby will be born alive and that parents will enjoy some time with the baby.
5. Offer to continue prenatal and fetal care as for any pregnancy. Ultrasounds are very special, memorable events and given the high risk of miscarriage, might be the only time parents will see their living baby. Taking a few minutes during the ultrasound to point out normal or "cute" features of the baby can be a lifetime gift to parents.
6. Guide parents to create a birth plan that is best for their child and family. Parents should understand that children with T13 or 18 are unique and some might benefit from life-sustaining interventions while some may be harmed by them. Ensure that the birth plan includes collectibles for memories such as footprints and photographs. In indicated, be transparent with parents about any hospital protocol or policy that restricts certain interventions to babies born with T13-18. Parental challenges to these restrictions should be discussed in a multi-disciplinary meeting or ethics consultation.
7. Most parents who choose to continue pregnancy do so because it is the better path according to their personal beliefs. They appreciate empathy and kindness on their extraordinarily difficult journey, especially recognition of and respect for their love for their child."

One of our lovely ultrasound techs took time to give us a 3D
look at Verity's sweet little face. This meant so much to us,
and it was a beautiful thing to have the photos to show her
siblings once we got home.

*************

NOTE: This post refers to and quotes the following article, noted in italic text throughout the post:

Guon J, Wilfond BS, Farlow B, Brazg T, Janvier A, 2013. Our children are not a diagnosis: The experience of parents who continue their pregnancy after a prenatal diagnosis of trisomy 13 or 18. Am J Med Genet Part A 9999:1-11.

The Drawbacks of a Prenatal Diagnosis

Yesterday I read some articles published in the American Journal of Medical Genetics. These were sent to me by a lady on the Rare Trisomy Parents Facebook group in response to some questions I had posted. As one of the co-authors and collaborators of these and other studies (not to mention the mother of a trisomy 13 daughter), Barb is kind of a go-to person on the parent page. I so appreciated the information she sent me. The studies were quite thorough and well-presented, with findings related to concrete statistics as well as open-ended input regarding parents' experiences and emotions. In this blog post, I want to highlight some specific information from an article titled "Parental Hopes, Interventions, and Survival of Neonates with Trisomy 13 and Trisomy 18" (full citation follows at the end of the post).

I sat down with a hot drink and highlighter in hand to carefully read the pages I had printed. I confess I was not prepared for what I felt was the most stunning finding of all. See what you think after reading this paragraph:

"The single most important factor independently related to mortality before going home or before one year, even when correcting for all other factors (including congenital anomalies, interventions, and palliative care), was the presence of a prenatal diagnosis." 

A prenatal diagnosis?! Something I have been thankful for, the one thing we DO know with certainty--the knowledge during pregnancy that our daughter has full trisomy 18--that knowledge actually could have a negative effect?!

Wow. And yet, when I consider the words of the NICU doctor with whom I had a consultation, it completely makes sense. Hang with me and follow this train of thought: Parents, trusting health care professionals, receive information that may or may not be current...filtered through lenses of personal beliefs...relying on grim statistics that ignore (or are ignorant of) any positive outcomes...and under the influence of a variety within the health care field, accept sentiments that become a self-fulfilling prophecy and act accordingly.

The vast differences in outcomes and care plans for children with a prenatal vs. a postnatal diagnosis showed up in several ways. For those who had a prenatal diagnosis, the study found that parents have similar hopes; in fact, our personal answers fit right in with the general consensus of those who chose to carry their babies to term: "They hope to meet their child alive, take their child home, be a family and give their child a good life."

So what did medical providers recommend to these parents whose hopes are outlined thus?

"...the recommendations parents had from medical providers were homogeneous: comfort care at birth with the plan of not prolonging life was recommended to all parents."

Referring to other medical articles/resources, the authors of this study noted that these recommendations were probably based solely on the chromosomal diagnosis, as evidenced by many position statements, hospital policies and authors who consider that interventions for these conditions are futile. (There's that word again! "Futile." Used multiple times by the NICU doctor with whom I spoke.)

Postnatal diagnoses for the respondents in the study came an average of 6 days after birth. So any interventions came as a result of medical personnel doing their jobs:

"Children with a postnatal diagnosis received ventilator support according to their respiratory status only (and not related to decision-making or genetic label)."

Next, there was a clear difference even in what constituted "palliative care" for babies with a prenatal vs. postnatal diagnosis.

"It seems that palliative care, for children with prenatal diagnosis, is directed to a goal of having as short a survival as possible, with medications being prepared even before delivery. Giving the child an optimal death seemed to be the goal of palliative care after a prenatal diagnosis of trisomy 13 or 18."

On the other hand:

"For children with postnatal diagnosis, palliative care may involve numerous different neonatal interventions...[to include] transfusion for weakness and inability to feed, tube feeds for comfort, CPAP for dyspnea, surgical closure of meningomyelocele, surgery for omphalocele, ventriculo-peritoneal shunt, and even 'cardiac surgery for comfort' (symptomatic child with a VSD). It is likely that many pediatricians would not describe such interventions as palliative."

There is certainly a lot more I could write or quote, but I think you get the general idea. Having a prenatal diagnosis can actually be a lot more harmful than being blissfully unaware of a chromosomal issue until after the baby arrives and makes his or her needs known.

So...what does this mean for us as a family? Further, what does it mean for YOU, perhaps a friend of our family, or even a random stranger who stumbled upon this humble blog entry? Here are some things I've been pondering...

First, as a parent of a baby girl with a prenatal diagnosis of full trisomy 18, I feel extremely grateful to be acting on the offensive instead of the defensive. While so much is out of our control, and though many things are uncertain about Verity's physical and mental status, simply KNOWING that any medical providers we encounter at delivery are likely going to have similar biases going into L&D with us helps us prepare to communicate firmly and effectively.

Second, as I read more of how other parents dealt with decision-making and care plans for their children, I feel much comfort in the fact that Ted and I are in agreement with each other, and also the fact that our "game plan" looks pretty much like what I see outlined in the report:

"Decisions were influenced by the state of the child and whether he was vigorous or weak with parents in general not wanting to impose undue suffering. Parents of almost half the children discharged on comfort care later decided to consider surgical interventions, because their child exceeded expectations."

In the absence of any concrete information at this time, we have simply said that we will wait and see what Verity needs when she needs it. As our genetic counselor told us, "Verity herself will let us know what she needs when she's born!" We plan to give her whatever support she needs, particularly help with respiration and feeding, as those are common issues. Anything that will not cause her undue discomfort but enhance her ability to breathe and receive nourishment--that's a given. That's our first plan of action. And then we take one day at a time and see how she's doing.

Now...what can all of this mean for YOU--and bless you, if you are still reading! Well, I can only encourage you to be willing to share information as you have the opportunity. Many health care providers are stuck in the "dark ages" when it comes to a diagnosis such as trisomy 13 or 18. And since these are fairly rare issues, it stands to reason that the average parent will know very little as well. Maybe someday you will be in the position of sharing information with a distraught couple who needs to know truth?

"Based on our findings and the current literature, if a baby is born near term, with a weight above 2.5kg, without a complex congenital anomaly, the chances of survival to discharge and to one year of age are significant. Our data about ventilator support and early survival are important. Poor respiratory drive immediately after birth is common. This support can often be removed after a short time and allow survival to go home. Sometimes, prolonged survival occurs, especially in neonates without complex cardiac anomalies or other significant adverse associated diagnoses. Infants with a prenatal diagnosis generally do not receive ventilator support, unless parents decide for interventions before birth."

Verity seems to fit the description of a trisomy 18 baby who may very well "exceed expectations." She does not have any complex cardiac anomalies or other "significant adverse associated diagnoses." It makes me wonder how many other trisomy 18 babies might have stood a chance at beating the odds and allowing their parents more time to spend with them on earth...if only they had had the opportunity for care before receiving a diagnosis. As the article queried, "It is important to examine decisions to withhold/withdraw interventions and whether they are in the best interest of neonates and whether our goal for these children is a good death, or is it a good life?"

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NOTE: This post refers to and quotes the following article, noted in italic text throughout the post:

Janvier A, Farlow B, Barrington KJ. 2016. Parental hopes, interventions, and survival of neonates with trisomy 13 and trisomy 18. Am J Med Genet Part C Semin Med Genet 999C:1-9.

Medical Input...the Good, the Bad, and the Ugly

This past Tuesday we had a couple of consultation appointments set up. First we met with Sara, the genetic counselor whom we met on September 26, just before our diagnostic ultrasound for Verity. This was a good and productive meeting. Sara was very well prepared and gave us a lot of positive information about babies and children with Trisomy 18, some of which is in written report form that I was able to take home and peruse when I had more time and brain cells.

Based on our ultrasound findings, both in September and in October, Sara thinks Verity has a good chance of survival. Obviously there are no guarantees, and there are often things that ultrasounds can NOT pick up, but the overall picture shows us that she seems to have a “head start,” so to speak: if any baby were to have a positive outlook with this diagnosis, our Verity would seem to be one who may enter the world ready to fight the good fight.

Sara’s whole demeanor was extremely positive and encouraging. She said she was going to give us the full story of the hopeful end of the spectrum, even though we are all fully aware of the grim statistics. In her words, we would get enough of the negative from plenty of other sources, so she wanted to focus on things that would be helpful for us in the event that we are able to bring Verity home from the hospital.

So we discussed things like feeding options, breathing assistance, and so on. Ted had to leave a bit before our meeting time ended since he had to get to the airport for a work trip. I was bummed that he had to leave before we saw the NICU doctor but figured it wouldn’t be a big deal to fill him in on the information later.

As it turned out, I definitely could have used the moral support.

Dr. B works in the NICU. I was looking forward to hearing what measures the medical team would naturally take at the event of a Trisomy 18 birth. I was rather startled when nearly the first thing out of his mouth was something about dealing with a “retarded” child. He then seemingly excused his use of that term by explaining that he grew up with a “mentally retarded sister.” Over the course of our meeting—which was less a conversation than it was me listening in stunned silence—I gleaned some information that gave a bit of insight into his wording and overall lack of understanding or compassion for this situation.

His sister did not get enough oxygen at birth, and so she lived her 19 years with a mental handicap. This apparently took a toll on the whole family; he spent a fair amount of words talking about the importance of “buy-in” from the whole family, because when there is a baby/child with these kinds of needs, everybody must pitch in and help. And while I don’t disagree with that, I firmly believe our family has a MUCH different perspective already…our kids understand that we have to work hard together and serve one another in order for things to run halfway smoothly! If we want to have fun, for example, we need to be willing to work together to create the time and space for certain memory-making times to happen. But life in general involves putting others’ interests and needs ahead of our own. We don’t always do this with humble, Christ-like attitudes, but still…we have this basic understanding from Scripture and work hard to teach it to our children. A precious moment that lives in my heart just from today? Seeing my 13-year-old son holding his 3-year-old brother by the hand and leading him to the family room for a story so Mom could finish something in the kitchen. My kids ALREADY help their siblings, and they don’t resent it (most of the time!). They distract the baby while I’m wiping her poopy butt so she doesn’t spread the mess. They watch out for little ones who are trying to explore something that could be harmful. They read and color and play with each other. Even the older ones look out for each other…maybe doing someone’s chores when they have other activities or making sure a sibling doesn’t feel left out at a youth event.

I digress. Back to this meeting, which I do wish I had recorded to make things easier for communicating with Patient Services. It’s been a few days, and my emotions have simmered down. I don’t remember exact wordings for everything, more like impressions. One such impression was related to the “buy-in” comments, making me visualize a family meeting where we all sit down to have a vote…are we going to “let” Verity live what this man considers a “futile” life (that word IS one he used with alarming frequency), or do we have better things to do?! (Please note he did NOT actually say this—this was an impression I got upon listening to what he did say.)

Another idea had something to do with his own experience…a child like this (i.e. mentally/ developmentally delayed) takes a toll on the whole family. It is a strain mentally, emotionally, financially. For example, Mom couldn’t take the kids to Disney World because of the sister who would have needed special care. Really?! While I love the idea of taking our brood to Disney World, there are definitely more important things in life.

In between these opinions I did at least learn that the medical staff will do basic, necessary measures such as resuscitation, assisting with baby’s breathing, giving feeding help, etc., UNLESS we instructed them not to do these things (which for us obviously isn’t an option). Beyond that…Dr. B indicated that we will need to figure things out depending on Verity’s particular situation and decide what measures we would want to pursue. He spent a fair amount of time talking about heart surgery as an example before admitting that Verity’s heart actually looks quite good, so that shouldn’t be something we need to deal with…but in the event that it does come up, there is a surgeon who has considerable experience and would be there for us. In any case, he made it pretty clear that his own opinion, and seemingly the opinion of most of the staff (he apparently spoke for them all?!) no matter what their “religious affiliation” was that beyond the basic care given immediately after birth, it would be pretty “futile” to do anything else.

I’m sure folks are reading this thinking, “Why didn’t you give him the what-for?!” And truly, as I drove home, shaking with anger and wiping away tears, I thought of a boatload of things I could have or should have said. But perhaps you’ve been in a similar situation where you felt punched in the gut—caught completely unaware, listening to someone say things so far removed from what you expected to hear, that you couldn’t even formulate words in your own brain, let alone speak them.

I did work to wrap up the meeting sooner rather than later, and as I reached for a Verity card to leave with this doctor, I was stunned yet again when he asked me, “This is your last one, I hope?” He then went on to ask what my “religious affiliation” was.

Good grief.

I was as polite as I could be and simply pray that the photo card I left with him will speak volumes of truth to his heart. No matter how long Verity lives, she is ALREADY a blessing and a gift. She is not a mistake. Her life is not futile. As her family, we may have fears and doubts about our abilities to care for whatever her unique needs are going to be, but we don’t doubt that God has beauty and purpose in all things and that He will be glorified.

I created these photo cards to give out to people whom we meet along the way...maybe those who are already praying for us or those who strike up those polite conversations in the grocery store. I know there are days when trying to answer may cause me to be emotional; or there are times when I want to speak truth about our situation but don't have time to share everything. These cards have made their way into a number of medical caregivers' hands as well as our local prayer circles. They also serve as a good reminder to us as Verity's family!

Results

Written Tuesday, September 27, 2016

Today was an information-filled day. After what seemed like an eternity of waiting for our ultrasound appointment, we have been flooded with more information than we perhaps wanted. This morning a doctor from the university called with the FISH results (preliminary amnio findings), which confirmed Trisomy 18. Not a surprise after seeing the ultrasound, but still…

Then the women’s health clinic called later in the morning, and I spoke with one of the doctors at some length. She was very kind and compassionate and told me it was my decision whether to transfer my OB care to the university or to continue monthly appointments with the military clinic where I've been seen (my preference). I did learn that our insurance completely covers my and baby’s care—they would not cover an abortion, which somewhat restores my faith in our government health care. Of course abortion is not an option for us, but due to a miscommunication in our conversation, the doctor’s comment originally made it sound like our insurance would not cover my OB care and delivery of our baby! I was so relieved to find out that the doctor was actually talking about abortion not being covered! Whew. Such heavy things…

Anyway. It was rather bizarre, being calm and collected on the phone, talking with this doctor about where delivery will happen—it all depends on the baby’s condition at the time of delivery. If she dies in utero…we will deliver at the hospital where our last baby was born. We had such a good experience there, and I loved everyone we met. I would not mind at all being there—except for the fact that of course I would much prefer to deliver a live baby girl. :-(

If she is still alive when I go into labor, we will deliver her at the university medical center, which is much better equipped for the neonatal care that she will need. I confess I was relieved to hear that they are concerned for our baby’s welfare after birth despite the fact that most in the medical community view Trisomy 18 as a death sentence.

It was strangely comforting to be able to make even the relatively simple decision about where and how to continue my OB care. I am so thankful that I’m not being told what to do, that my (and our) desires are a huge factor in what happens going forward. My next OB appointment was rescheduled so that I can meet with an actual OBGYN doctor, not a nurse practitioner as was previously the case. I will be seen again on October 14, and we have another ultrasound on October 24. The complete amnio analysis will only give us specific information on the genes/structure of the Trisomy 18…it will not give us information about how the condition will manifest in our baby girl specifically. We will rely on the ultrasound to give us more of a heads-up with that.

What IS Trisomy 18 (Edwards Syndrome)?

We had nearly an hour-long consultation with a genetic counselor just before our ultrasound. Of course, after receiving the phone call from my doctor 4 days prior, we had immediately done some research on Edwards Syndrome. The analysis was pretty grim. I read enough to see that the studies on survival rates show an extremely high mortality rate either before or soon after birth for children with Trisomy 18. That was all the information I could handle during those days leading up to the ultrasound...one bridge at a time.

As you may perhaps surmise from the name of the condition, there is extra genetic material in the 18th chromosome that can cause a wide range of developmental problems. Our counselor gave us the following list of specific things the doctor would be looking for in our ultrasound:

• Heart defects, such as:

1. VSD (Ventricular Septal Defect): a hole between the lower chambers
2. ASD (Atrial Septal Defect): a hole between the upper chambers
3. Coarctation of the aorta: a narrowing of the exit vessel from the heart

• Kidney problems
• Part of the intestinal tract is outside the stomach (omphalocele)
• The esophagus doesn’t connect to the stomach (esophageal artesia)
• Excess amniotic fluid (polyhydramnios)
• Clenched hands
• Pocket of fluid on the brain (choroid plexus cysts)
• Rocker bottom feet
• Delayed growth
• Small jaw (mycrognathia)
• Small head (microcephaly)
• Low-set ears
• Strawberry-shaped head
• Severe developmental delays
• Umbilical or inguinal hernia

Among other things, our discussion also included information about how the quad screen blood test works as well as how Trisomy 18 was determined to be the risk factor for our baby as opposed to other genetic issues. It turned out to be a good biology lesson for all of three of us--Charis, our oldest daughter, had chosen to accompany us to the ultrasound. (I gave her the option since she has attended nearly every ultrasound we have ever had done...she loves seeing the babies in my womb and being the first to know their gender!)

Along with all of this, we learned more about our post-ultrasound options...what we might choose to do if the ultrasound findings were or were not clear. Basically, there were two things that could give us more specific information:

1. A blood test that would check specifically for chromosomes. This would give us results with 99% accuracy...however, there is the chance for both false positive and false negative results.
2. An amniocentesis. Based on an experience I had had 13 years prior with our third child, I was leery of getting an amnio because of the information I had received at that time, which seemed to indicate that an amnio would actually increase my chances of miscarrying the baby. The question we looked at was...does the amnio itself increase the risk of losing a baby, or is it perhaps the fact that most amnios are done during pregnancies with complications to begin with?

Armed with more information than we perhaps wanted, we decided on our own, in the counselor's office as she went to finish some paperwork, that if the ultrasound showed specific concerns, we would elect to have an amnio done immediately afterward. If the ultrasound seemed to indicate that all was well, we would go ahead and do a blood test on me just in case.

And then it was time. We followed the counselor to our ultrasound room where the tech was preparing for us.