Down Syndrome – not Trisomy 21 – but rather, Down Syndrome. That was what the call I received from a nursery nurse was about 30 years ago. They had a newborn that they thought had Down Syndrome and while stable, they were wondering if I wanted to come see the baby that night and talk to the mom – who by the way, was a single mom. I did come in and examine the newborn and agreed with the nurse’s assessment that the child probably did have Down Syndrome and then proceeded to talk with her mom. I walked in the room and introduced myself and before I said anything more, the mom – who it turns out was a former NICU nurse – said, “I think my baby has Down Syndrome.” No tears, just a statement from a new mom. I told her I thought she was right and then we talked about how beautiful her daughter was and what we should watch for in the following days and months. No doom and gloom – just anticipatory guidance and joy for her now being a mom. That evening started a wonderful relationship I have had with this now-grown woman and her mother for 30 years.
So why I am writing about this now? As it turns out, the mom developed pancreatic cancer over 4 years ago and just recently died. I was invited to her Celebration of Life in mid-October and gladly attended – as glad as you can ever be to attend something like this. Not only did I get to hear more about her life than I had known, but I also got to see her daughter shine as she spoke about her mom. It reminded me of several things I have learned during my career by caring for a variety of patients with not only Down Syndrome, or more accurately Trisomy 21, but other chromosomal problems or complex health care needs.
First, don’t make assumptions about your patients or their families or the diagnoses they may have. Get to know them and learn about their goals and abilities and needs. Second, all children need at least one caring, involved parent or guardian to help them to thrive.
While I know that for kids with Trisomy 21 there is a wide range of functional ability, I also believe that the more involved their parents or guardians are, the better they do. I have frequently shared this with all the parents of my special needs children. Finally, despite all of our medical knowledge, our patients will still often surprise us with what they are able to accomplish. This particular patient, who a year ago got married, had to deal with her mom dying. But she was able to stand up in front of a room with well over a hundred people and talk beautifully about her mom and their relationship.
It was sad saying goodbye to this mom when I last saw her several months ago and again at this Ceremony of Life, but it was a beautiful tribute to the outstanding job she did raising her daughter. For those of us that have been in practice for a long time – we have all probably had many patients and families that have touched us like this. For those of you just starting your pediatric careers, you will have an incredible journey as you grow with your patients and their families. Enjoy it. It’s a wonderful opportunity we are given as pediatricians.
It is hard to believe we are turning a corner into another year of the COVID-19 pandemic, but I am hopeful that as vaccination numbers of our pediatric patients continue to increase that we will head into a new phase and a better one of this pandemic.