To the Med Students Who Will Deliver an Unexpected Down Syndrome Diagnosis One Day
Dear Medical Students:
Thank you for choosing a noble profession and for being motivated by a desire to help people. At times you may wonder why you’re studying so hard, putting in long hours and putting yourself into tremendous debt. It’s because you want to make a difference, and you surely will.
You’ve spent hours on clinical training, learned about countless conditions and read thousands of pages that will help you solve medical mysteries. But there’s so much packed into the medical school curriculum that an hour-long lecture and a single patient lab might be the extent of “delivery of diagnosis” classroom education you receive.
At some point, you will have to deliver a difficult or unexpected diagnosis. Patients will listen to your words as you deliver them, so use them carefully. What you may not have learned is that your words have incredible power, and for some, your words will have impact for the rest of their lives.
On November 8, 2010, I heard words that would forever impact me. We suspect your baby has Down syndrome.
On the surface, the doctor, a pediatrician, delivered the diagnosis in a way that would almost have been like a case study in a textbook. Her tone was soothing. She was matter of fact. She provided us with what evidence they had so far (creases on both palms, extra space between my baby’s first and second toes, low muscle tone). She told us that Down syndrome happens when someone has three copies of chromosome 21. She told us about heart defects, elevated risk for leukemia, thyroid conditions and cognitive and physical delays. She used words that were not too difficult for most patients to understand. She asked my husband and me if we had any questions.
If that had been a patient lab, she would have scored well. She did all she was supposed to do.
She devastated me.
Yes, part of it was the unexpected diagnosis, but part of it was what was left unsaid, and that part would have helped so much. And now, every year around my son’s birthday, as I’m preparing to celebrate him, it’s bittersweet because I remember the intense grief that accompanied his birth, his diagnosis.
You see, future doctors, delivering a diagnosis is not merely about providing a list of symptoms and a litany of potential problems in a soothing tone without medical jargon. It’s about painting a more complete picture. In that diagnosis moment, my dreams changed, and the picture was out of focus.
To nail the diagnosis experience, the doctor could have started with the words, “Congratulations! You have an amazing baby boy.” Because I did not hear those words, I remembered being confused later when I heard it from one of the nurses. I wondered whether congratulations was something you said to someone who receives an unexpected diagnosis. I know now that of course you say it, and you say it enthusiastically, because a baby is first a baby.
To continue with the positive experience, she could have provided some resources. We started with Google. If you’ve ever tried using Google to find medical information, you will see that the volume of information is overwhelming, and much of it has little educational value. The doctor could have shared with us links to the websites for the National Down Syndrome Congress and the National Down Syndrome Society. She could have provided the names of some books that would have been helpful, like “Babies with Down Syndrome.” She also could have shared the article “Health Supervision for Children With Down Syndrome“(this is the most recent update) so we could read it and provide it to our pediatrician.
The physician could have referred us to the two Down syndrome centers in our region, could have connected us with a hospital social worker (we asked to see one on our own), could have given us information on how to connect with the county’s Early Intervention services, and could have connected with our county’s Down syndrome group. If she didn’t know that information, the National Down Syndrome Congress has a link one can use to find a local Down syndrome group.
Finally, to really nail the diagnosis, the physician could also have had educated us on the possibilities. She could have told us that though there were things that would be difficult for our son, some things might come easily. She could have told us that if we have high but reasonable expectations, our son would rise to them. She could have told us that people with Down syndrome may live on their own, drive cars and go to college. The More Alike Than Different campaign of the National Down Syndrome Congress illustrates these points perfectly.
Future doctors, you will soon be seen as a figure of authority. Your patients will wait to hear your words with a mixture of anticipation and fear, and your words can affect them for a lifetime. What you share during a diagnosis can help move a person beyond that initial shock and grief, can help them find the appropriate resources and can help them get to the place I am now — thankful for my smart, sweet, funny, tech-savvy son
who has Down syndrome.
If you ever find yourself in the position of delivering an unexpected diagnosis of Down syndrome, I hope choose your words carefully and give plenty of information and resources.
Sincerely,
Julie Gerhart-Rothholz
The Mighty is asking the following: Write a letter to anyone you wish had a better understanding of your experience with disability, disease or mental illness. If you’d like to participate, please send a blog post to community@themighty.com. Please include a photo for the piece, a photo of yourself and 1-2 sentence bio. Check out our Submit a Story page for more about our submission guidelines.
Have you seen the first film with a national release to star a person with Down syndrome? Check out the film “Where Hope Grows” today!
Julie Gerhart-Rothholz is a pharmacist, wife of a pharmacist, and mom to Evan, who has Down syndrome. Julie states that her son’s surprise diagnosis gave her a new sense of purpose: helping individuals with disabilities. She is vice president of The Arc Alliance Foundation board and served as lead for the Differently Able Employee Business Resource Group at Merck. Julie believes that high expectations for individuals with disabilities result in great accomplishments.
jmgerhart