You instilled hope…a lot of hope…but the wrong kind of hope. You, a complete stranger whom I had never met, walked into the exam room after our Level II ultrasound and needed to explain what you saw on the ultrasound. We were just ecstatic to learn we were having a little girl (the first granddaughter on either side of our family) and you proceeded to remind me how old I was and began talking about ‘soft markers’. You said our daughter had a small hole in her heart, a Ventricular Septal Defect (VSD) and a small femur to head size ratio. Had there been just one of these markers and we would not even be discussing Down syndrome you said, but since there were two she needed to. You drilled the odds into our head. My age of 41 had my pre-ultrasound odds of having a baby with Ds at 1 in 100. With these two soft markers you said the chance increased to 1 in 3…but you went into such detail that the small femur to head size ratio was not really a good indicator especially since I was only 5 feet tall and heredity is not taken into on that indicator and also because ultrasound technicians do their best, but aren’t perfect and our daughter’s ratio was just a .1 measurement away from not even being a marker. Weighing all that, you pointed to the paper you were writing on and said you thought our odds were much closer to the 1 in 100 than the 1 in 3 likelihood. You offered up a lot of hope that our daughter was not going to have Down syndrome; but you never once took the opportunity to talk about how a life with Down syndrome did not have to be sad or scary or unworthy. In fact, by not discussing it you perpetuated the stereotype that Down syndrome should be avoided.
The urgency with which you sent in the Genetic Counselor and her actions to pressure us to take the non-invasive prenatal testing (NIPT) was overwhelming. There was no time to think or process. There was only time to accept your opinion that things weren’t good – which was confusing since you just spent so much time giving us hope that our little girl would not have Down syndrome. There was no compassion. Just desire…your desire…for us to know, and know quickly, if our daughter had Down syndrome.
You sent the results of the ultrasound to my Obstetrician and she called me at home and continued to spew the wrong kind of hope. More hope and confidence that lots of babies, even those without Down syndrome, have VSDs and the vast majority of these holes close before birth. She told me to wait until the screening results to came back before we discuss Down syndrome. I wish I had had a familiar and reassuring voice at that time to give me the confidence to face a potential Down syndrome diagnosis with, but I didn’t. She failed me.
We waited and waited for the blood results to come back. You had another stranger, a different Genetic Counselor than the one that rushed us into NIPT, call me on the phone to deliver the positive Trisomy 21 screening results. I will never forget the number times she used the words ‘concerning’ or ‘we are very concerned’. Seven…seven times. She even continued using such despairing words and tone after I asked her to please stop saying she was concerned and asked her “what exactly do I have to be concerned about, my daughter is healthy and is going to live, right?”. Seriously, what was there to be concerned and sorry about? All that screening showed was a 99% probability that our daughter had an extra chromosome. She had no way of knowing the effects of that extra chromosome and had no right to add her editorial comments and make me feel like my life and my daughter’s life were to be mourned. That impersonal and insensitive conversation ultimately robbed me of many moments, days, months of a joyful pregnancy.
No one is prefect….not even those of us with 46 chromosomes. I can only imagine that practicing medicine and bedside manners has got be hard. But when my Obstetrician, whom I have known for years and knew from the first visit of this pregnancy that we would not abort this child of ours, out of nowhere looked me straight in the eyes and without any prompting said “You are too far along in your pregnancy for an abortion." Those unsolicited words were not constructive and quite honestly were demoralizing. I once again lost faith and confidence in what the future held for our family.
We left you and your Genetic Counselors and my Obstetrician. We did not say goodbye and we did not look back. We found doctors, nurses and ultrasound technicians that were positive and joyful and encouraging and supportive and that believed in us and believed in our daughter. We welcomed their ability to let us process the diagnosis in our own time and provide the support and environment to do so. They cared. They cared about me, my husband, our sons and our daughter-to-be. They let me cry. They were honest and respectful. They calmed my fears and gave me objective resources. They included our boys in ultrasound appointments. They told us positive stories of other families they care for that have a child with Down syndrome. They never…ever…were concerned or questioned our desire to give birth to our daughter and raise her to be an amazing gift to this world. And, all that caring that they showed gave me back my confidence that this new journey we were on was going to be alright. I could…and would…do this Down syndrome thing. And, do it well.
All your false hope did inspire me to make sure we had the right physician for our daughter. We needed (and deserved) a doctor that would be a champion for our daughter from the moment she was born. I called our pediatrician to invited her to care for our daughter. I told her what we knew about her heart conditions and asked her if she was up to the task of partnering with us to ensure our daughter always received the best health care and services possible. She graciously accepted and I cannot imagine having gone through the first year of our daughter’s life without her by our side. She exemplifies the best of your profession.
What you say and how you say it makes all the difference in the world. You job is to diagnose and treat. Instead of all the doom and gloom you and your colleagues expressed to me and my husband during the earliest stages of our daughter’s Ds journey, I hope in the future you remember that attitude is everything. Be positive – don’t just talk about the potential negative aspects of Down syndrome like you are reading a list of facts. Remember to balance statistics with information and personal experience of all that modern medicine and technology has done to improve the lives of those with Down syndrome. Remind your patients that doctors have trained for years and years to be able to use all their knowledge and skill to help and heal when health conditions arise…it is what they took an oath to do, regardless of the number of chromosomes their patient has. Just hearing those words and being reminded that the medical profession is on their side will make a tremendous impact on the family you are caring for. Those words will give comfort and strength when it’s needed most.
I hope that the next time you have to opportunity to deliver a potential (or actual) diagnosis of Down syndrome to a family, you remember that love doesn’t count chromosomes. The mother and father sitting across from you loves that child you just saw on the ultrasound. Give them reason to continue to grow that love and to be proud of the child they are about to raise. Your words have the power to heal as much as your training and skill. Your words have the power to shape the future.
October is Down Syndrome Awareness Month. This letter is part of the Down Syndrome Diagnosis Network’s #DearDoctor campaign. The purpose of this campaign is to raise awareness that there are nationally recognized guidelines in place on how to deliver a Down syndrome diagnosis- with current information and without bias.
You can let your doctor know how they did delivering the diagnosis by participating in DSDN’s Physician Feedback Program. If you are a parent of a young child with Down syndrome, connect with DSDN for information, connections and support.