Delivering a Down Syndrome Diagnosis- A Physician’s perspective

Delivering the diagnosis is such a monumental responsibility, what is a physician’s perspective of delivering a Down Syndrome diagnosis?

“Yes, he has Down Syndrome. “

We made the appointment, we suspected he did from his physical characteristics, but a mama denies till she cannot deny any longer sometimes.

“He has Down Syndrome.” Those were the words that my pediatrician spoke but it was more her presence that spoke volumes, oh and the things she said afterward while I was feeling the shock, and the splash of the tears.

It is a bit muddled now, but any lack of hope I felt did not come from her.   I say this because she was overwhelmingly as positive as she could be, in that moment.

It was not a positive moment for me, having a confirmation from a physician, however, some of the things she said, I clung to.

I remember her saying something about how amazing he was going to be, how lucky he was to be born into such a large family (we have 5 other children) how that alone would help him thrive.  She said so much more but I was in my Charlie Brown mode of hearing the “wah wah wah” of the voices.

I do feel that she tried very hard not to overwhelm us with information and she tried to give us a peaceful experience.  She also spent over 2 hours with us, I can only imagine what the other patients must have been wondering that day as she took as long as we needed, and she hugged me as I sobbed.

I share my experience because I have heard so many other experiences of horrendous bedside manner, horribly outdated information, and negativity, our pediatrician was not that way.  I think in some small part, her confirmation of our suspicions having been spun so positively helped me heal faster.  Her contagious optimism and purely kind words soothed the broken heart that was pounding in my chest.

Months later, as my heart has healed, and I have begun the journey of helping other mamas, I found myself wondering, as I often do, what was it like to be in her shoes?  What is it like for the physician who has to deliver the news to a new parent that their child has what many call “a genetic defect.” (For the record our pediatrician never said the word defect or used any negative language)

I reached out to the pediatrician I now also feel a friendship with, and I asked just that.  I think a lot of physicians could learn from her approach, and it would likely make a world of difference to all of us parents on the receiving end of the diagnosis.

Our pediatrician has been in practice since 1989 and recalls that in her practice she has had to deliver the diagnosis approximately 5 times, though she has a decent sized population of patients with Down Syndrome who have likely had their diagnosis provided by other practitioners.

I asked her to recall the first time she has to be the bearer of the diagnosis and she recalls the following:

I was in practice for about 4 years when I had to share with parents in their postpartum room at the hospital. The mom was in her late 30’s early 40’s,  and was married to a man from China. The mother was very open with her faith. She had experienced a few miscarriages prior to having this new baby and she was so joyful. She responded naturally, with quiet tears and sadness. Dad had more of a stoic, closed, quiet response. It took him many weeks before he could even relay the news to his family back home as he felt such shame. It took months for Dad to come around but he did slowly but surely over the year.

Due to the baby’s hypotonia, the mom had to work very hard to nurse her baby and eventually she was nursing directly from the breast each time by one month of age. I was impressed by her persistence and fortitude. They moved due to his job and went on to adopt and kept in touch for a while.

I felt like there was a mounting joy as their lives progressed, which gave me such relief and joy, as well. This mom’s beautiful acceptance and spirit are still memorable to me today

How do you prepare for how the parents will react?

I always pray before I enter the room and ask for God’s Grace and Wisdom to guide my words.  I quiet myself to be able to exude peacefulness during our time together.

Everyone is different so all I can do is to evoke a sense of competence, experience, and love to each family.

What resources do you typically try to offer parents?

Reading this question makes me realize I need literature in the office to have on hand for patients.  I generally offer referrals for current, critical issues, to avoid overwhelming the parents.

It’s important to have that sacred time at home bonding with the baby.

I try to address all the areas that could have potential challenges at the well check-ups and follow-up visits.  It’s important to anticipate potential issues for prevention.

 

How does it feel to have to deliver such a difficult diagnosis and know that parents all react so very differently?

It is always hard, emotionally, since I am a mother as well, but I also know what may lie ahead in terms of the potential for life-changing joy.

(I remember clearly when she said to me, you have to have your own journey, but it is going to be okay…I see now it is because she understands what those parents don’t yet feel in the beginning, it will feel so much better in a matter of weeks or months)

 

What is the best success story you have to share about a child with DS?

A little boy who had multiple heart deformities and had to have open heart surgery which could not be done till he was a suitable weight. The parents suffered in fear until it was finally accomplished at 6 months. Since then, he has thrived and is an energetic delightful kid. The change in their disposition to calmness was such a relief for me. I saw their marriage grow tremendously, too.

I am always blessed by these children, in all their uniqueness. They teach me through their trials and personal development.

And the simple, pure Christ-like love that they exude touches my heart in a way that is indescribably elevating.

 

I am so thankful for this woman, her practice of being an encourager, a helper, and a confidant.  We all too often hear of the physicians who deliver the news harshly, this is one woman who decidedly did not, and it made a world of difference.  Dear doctor, you did it well.