As with most couples, when Samantha and Justin Breithaupt found out they were pregnant, they were elated! A new addition to the family is something they were excitedly looking forward to. However, concerns arose at their 12 week ultrasound. Doctors provided a nuchal fold scan to measure the translucent area at the back of Emery’s neck that can assess a baby’s risk of having Down Syndrome (DS), other chromosomal abnormalities, and major congenital heart problems. The doctors gave some unsettling news that Emery’s nuchal fold was a little thicker, concluding the possibility for Emery having DS. With DS., the official diagnosis would not be given until birth.
While the diagnosis was a possibility, Samantha and Justin were bombarded with a list of “syndromes” that they studied carefully in preparation for her arrival with DS. While studying, they learned, too, that about 40% of children with DS have a heart condition. Samantha expressed that the scariest part of DS is the health issues that come with it. Emery was given a 50% chance of survival, a nearly unbelievable statistic to an excited, expecting couple; Samantha expressed, “I just don’t want to lose the baby.”
Emery’s birth required an emergency C-section where she was officially diagnosed with DS after a blood test. Emery was also given an echocardiogram that diagnosed her with Atrioventricular Septal Defect (AVSD), a congenital heart defect that consisted of two holes between the right and left chambers. This defect makes it so blood flows where it normally shouldn’t, the possibility of blood having lower amounts of oxygen, and potential extra blood flow to the lungs. The extra blood may lead to the heart overworking. Emery’s case consisted of a backflow of blood to the other side of the heart and surgery was necessary to repair it. While some cases require immediate surgery, Emery was fortunate to spend time at home to gain strength before the surgery six months later. Samantha and Justin were given a list of symptoms to watch including rapid breathing, turning blue, and extremities turning cold. Emery didn’t show these symptoms, but around five months later she stopped eating and drinking where Justin and Samantha brought her to the hospital for malnourishment.
At five months, the family spent two weeks in the hospital where they discovered Emery had Respiratory Syncytial Virus (RSV), an upper respiratory virus with cold-like symptoms, in addition to a collapsed lung from her heart overworking. The hospital gave Emery both a breathing and feeding tube, but this was not the end of their struggles as these conditions turned out to be more complicated. Emery was transferred to a different hospital where they spent the next three months receiving more treatments. The new hospital provided additional testing that confirmed RSV and diagnosed her with tracheobronchial malacia after realizing she could only breathe on her own for eight hours without a tube. Emery had a “floppy esophagus” that required a tracheotomy. While this worried them, after being told it would allow her to breathe on her own, it was evident that it was the right choice and less frightening. Emery’s heart surgery had to be postponed until she could develop a table airway, but the tracheotomy would allow that to happen. On December 14, 2016, Emery had her tracheotomy surgery, gained strength, and had her successful heart surgery on January 9, 2017.
With everything the family has been through, it’s not surprising that they are a familiar face in the community. Samantha, specifically, has used her experience to partner with Hope Story as an advocate that meets with doctors to discuss how to present the diagnosis and how to talk to families about DS. Working with Hope Story has also allowed their family to bring bright life to new parents. While their family has definitely battled through struggles, Emery continues to grow strong, learn, and is doing great in therapy. Emery is due soon to have her tracheostomy cannula removed and her trachea repaired to create its own airway that will allow her to finally talk and laugh, something Samantha and Justin are eagerly looking the most forward to. Emery, especially, continues to be a bright face, happy smile, and bold personality for the community to enjoy and learn about.
HOPE STORY IS A TEAM OF MEDICAL PROFESSIONALS AND STORYTELLERS. WE BELIEVE THAT STORIES HAVE THE ABILITY TO PROVIDE HOPE TO OTHERS AND CHANGE THE WORLD. AT OUR CORE, WE EXIST TO HELP PEOPLE LEARN TO TELL THEIR STORIES AND HELP THEM FIND OPPORTUNITIES TO SHARE THEM WITH PEOPLE THAT NEED TO HEAR THEM THE MOST.
Learn more about.Hope Story at hopestory.org