Getting the Diagnosis and Making the Decision :
Few, if any, parents anticipate when they see those two pink positive lines on a pregnancy test that their baby will be diagnosed with a rare and potentially life-limiting condition. In fact, fewer than 3% of pregnancies in the developed world are affected by such fetal anomalies, making them extremely uncommon. After all, most attempts at human reproduction are successful: the population of the planet is increasing, and, evolutionarily, having babies is just what humans do. So, what happens when having a baby doesn’t go as planned?
Some mothers head into conception and pregnancy knowing their risks: perhaps they have an inherited disorder, or they are of “advanced maternal age” (over age 35, according to the medical definition), meaning their pregnancies may more likely be affected by conditions such as Trisomy 21, or Down Syndrome. While knowing who is at higher risk allows medical providers to run the most appropriate diagnostic tests, this does not mean that the diagnosis of a baby with a birth defect or chromosomal anomaly, is any less heartbreaking when it happens. The benefit of medical advances is that expectant mothers and their support systems may find out earlier that they are expecting babies who are not as healthy as expected; however, this is also not always the case. Sometimes, certain anomalies cannot be diagnosed until later in the pregnancy, during the second trimester. And learning that your baby is seriously, if not life-threateningly, ill, is never easy.
If you are reading this, chances are you have been told that your baby is not developing normally. You may have been referred to genetic counselors and experienced a chorionic villus sampling (CVS) or amniocentesis test to learn more about chromosomal anomalies or syndromes affecting your baby, or you may have also visited centers for fetal diagnostics for tests like fetal echocardiograms, fetal MRIs, level 3 ultrasounds, and more. You may be in shock, pushing forward to gather information to decide what to do next, or you may be feeling crippled with grief. The grief of experiencing a fetal anomaly is unlike any other, because it is frequently unspoken, misunderstood, and isolating. Family and friends may not know what to say as they were expecting you to have a healthy baby, and were excited for you. Grandparents may already be grieving and you feel responsible for their emotions. Acquaintances may have strong feelings about what you should do, attached to triggering issues across the country related to abortion, personhood, and fetal pain. You, of course, are likely grieving the loss of the hopes and dreams of having a healthy baby, and how your family would grow and change. You may feel numb, wordless, nauseous, or wanting to run away. All of these feelings are normal.
You have likely been presented with the option of terminating your pregnancy or continuing to term. Depending on your baby’s diagnosis, you may be unclear about what the future holds for them. Despite advances in science, every case is unique and it is impossible to know how a disease will progress. Therefore, the first step may be acknowledging that you are about to make the best decision you can with the information you have. Thinking about whether to continue a pregnancy to term or end it may be the first true parenting decision you ever make for your baby. As you gather information, it can be helpful to consider the following perspectives. None of these questions are easy to explore or answer, but they are important nonetheless.
- What is the immediate and long-term prognosis? This means considering:
- Will your baby die shortly after birth and if so, will perinatal hospice and palliative care be able to address any pain or discomfort your baby will experience at birth? What do your physicians know about delivering a baby like yours, and what are the hospital’s rules about providing pain medicine to infants? Will your baby live for hours, weeks, months, or years? Will you be able to take your baby home?
- Will your baby be at risk for other illnesses as they grow into adulthood, such as cancers or heart conditions? Will they require multiple surgeries, and with what outcomes? How will this affect their lives, and what specialists are available to manage these conditions?
- Will your baby need round-the-clock care, placement in a special facility, or other adjustments in order to live comfortably? Will their cognitive abilities be affected? Will they be able to interact meaningfully with others, or will they have limited awareness? Will they ever reach milestones such as talking, eating on their own, walking, or caring for themselves independently?
- What, in your opinion, does it mean to have a good quality of life?
- What is the social context of your baby’s diagnosis? This means considering:
- What challenges will your baby, and future child, face in society? Will there be resources and options for them to receive the support required for them to enjoy a good quality of life? Will they be seen as different or misunderstood?
- What financial and support resources will be available to you and your family as you care for a baby or child with a life-limiting or threatening illness?
- What social support will be available to you and your family as you face constraints that include financial, time, energy, and emotional commitments to caring for your child?
- What is the impact on your family? This means considering:
- Effects on your current family unit, such as children, and your marriage or partnership. Will you experience caregiving stress? Is your relationship already affected by marital discord or disagreement? What will be the emotional and psychological effects on surviving siblings?
- Economic effects on your family: will you have the health insurance and financial resources to maintain a stable home for your family?
- What is the effect on YOU? This means considering:
- Your own ability to cope with medical needs, financial stress, adjustments to your job or family commitments, relationships, and your own mental health. How equipped do you feel to continue a pregnancy and care for your baby for as long as they have to live? What are your own limitations?
There are no ground rules for how you should approach the decision of continuing an affected pregnancy to term. Parents are unsure of how to feel about the pregnancy and the future. Many feel concerned about continuing to bond with their babies while they are still expecting, and they may feel frozen and powerless. During this time, it is important to continue to reach out to care providers to ensure that the information you are receiving is honest and unbiased, free from judgment, and you do not feel forced to make a decision in one direction or another. Hopefully, you have as much time as possible to think through the decision, but this is not always the case.
If you ultimately decide to end your pregnancy, more information is to follow about what to expect and how to cope for the long-term. The sooner you can work with a therapist during this time, the better. Not every mental health clinician is skilled in helping parents walk through the diagnosis and decision-making process, but at the Center for Growth, we work closely with obstetricians, maternal-fetal medicine specialists, and other women’s health providers to not only take referrals for patients who are struggling during this painful time, but also train medical providers themselves as they guide families. The goal is for you to feel supported as you potentially prepare to make a heartbreaking choice.
