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.

New Resource for Trisomy Moms

March was Trisomy Awareness Month. I was pretty active in sharing things on Verity's Facebook page and a bit on Instagram (I'm fairly new to that world), but I completely neglected this blog! Some of us Trisomy moms were talking about what we wish we would have known, or what we would have told ourselves if we could speak from our present viewpoint to our distraught past selves when we first learned of our child's diagnosis.

From those discussions a blog was born. "More Than Ten Percent" seeks to share stories of surviving the first year as a Trisomy mama. The name comes from the fact that most of us were told at diagnosis that at the most, only 5-10% of these babies live to see their first birthdays. The truth is, when babies are given interventions, closer to 35% of Trisomy 13/18 babies reach that milestone.

If you'd like to see Verity's and my contribution to the blog, please check it out! And do read other stories as well. While there are similarities, each journey is so different. It just goes to show that doctors really have no way of knowing for sure what will happen. We pray that our stories can be a blessing and encouragement to parents who are struggling with a new and unexpected diagnosis.

Resource Book PUBLISHED!

If you were following our journey shortly after Verity was born, you may recall the story behind the story Our Baby Will Be Different, a book I wrote to help prepare Verity's older siblings for what some of their baby sister's challenges might be. I am pleased to announce that the book is available for purchase in both a girl version AND now also a boy version! I am extremely grateful to our friend and illustrator Adam Turner for his gift of time and talent not only in illustrating both versions of the book, but also in helping me prepare the book for publishing in an on-demand format so that it can be available at any time for anyone who wants it.

This upgraded version includes a list of some Trisomy resources in the back along with space for journaling "Our Story." It would be a lovely and meaningful gift for any couple who learns their baby has Trisomy 18 or Trisomy 13.

Knowledge Is Power: Trisomy Resources

In the Trisomy parents' Facebook group I've been involved with since our diagnosis with Verity, I frequently see posts from new members who are either awaiting test results or who have just received confirmation of a rare diagnosis. Oh, how I identify with the precious mom or dad's feelings of being confused and overwhelmed! I know my first couple of posts filled with questions probably sounded very similar. How grateful I was for the members who swiftly responded, answering questions as best as they could and sharing pictures and stories of their children.

Recently my heart was so moved by one of these "newbie" posts, and as I left my own comment, I couldn't help but feel grateful at how far we have come in the 5 months since learning what exactly Edwards Syndrome/Trisomy 18 is. I gave advice that I wish I had known in the beginning: while waiting for test results, resist the urge to GOOGLE!! Instead, if one simply MUST research, direct those efforts toward searching out those who actually live and work with Trisomy babies/children. For those parents with a diagnosis, there are Facebook groups available that are much more current and interactive than, for example, this Trisomy 18 support group I found initially. This forum is not a bad resource by any means, but it did not contain the wealth of contacts and ease of accessibility as the private FB group that I later found through a new friend's help. (I do still visit it from time to time; new posts are few and far between, but I've been able to encourage some folks by dropping in now and then and sharing a bit of our experience).

Many of the parents whom I've met through this journey have their own Facebook pages available for the public to follow. Quite a few of these precious little ones have their own fan clubs cheering them on and praying for them each time they hit a new obstacle. It's really a wonderful thing to share stories and help educate others about this particular special needs community. Here are some examples of pages (shared with permission because they are open to educating others):

Team Benjamin: A Celebration of Life with EA & Trisomy 18
Adventures with Annalea
Remembering Noelle Faith
Diary of an Almost Father
Danny's Miraculous Trisomy 18 Adventure
For the Love of Lillian: A Trisomy 18 Adventure
Addilyn's Odyssey, a Trisomy 18 Journey
Jonah's Journey with Trisomy 18
Adventures with Addalyn and Trisomy 18 (This one is private but Mom says she approves "non-crazy" people, lol!)
The Joy Gabriel Brings
Celebrating Nate

There are many, many more, and I'm sure a search on Facebook could easily lead you to others. (Also, if you "like" one of these public pages, FB will helpfully recommend similar pages for you.) My point here is to help educate and equip people to turn around and educate others who find themselves on a journey similar to ours. When a parent receives word of an "abnormal" diagnosis, fear is crippling. Even the RISK of a positive test result incites fear and uncertainty. But knowledge is power. At the same time, there is a lot of JUNK out there on the internet (and I'm not even talking about politics, lol), and if people find what they think are "answers" in places that really don't have current information, they can make poor decisions that they may very well regret the rest of their lives.

So, if you find yourself listening to a friend sobbing on the telephone or answering a slew of emotional texts from someone who has gotten That Dreaded Phone Call from The Doctor, my advice is to listen, pray with your friend, and then give hope and encouragement. No matter what the diagnosis, there IS support. There IS accurate information...as well as inaccurate. Help your friend find the resources needed to navigate the journey ahead with full awareness.

More specific resources for families expecting Trisomy babies:

Hope for Trisomy web site
Trisomy Angels Memorial Website
Support Organization for Trisomy 18, 13 and Related Disorders
TRIS (Tracking Rare Incidence Syndomes)
ITA (International Trisomy Alliance)

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?"

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

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.