From Heartbreak to Hope: A Little Girl's Journey Through Kidney Failure

And the Life Saving Power of Organ Donation

Many times, while practicing in the NICU, I was blessed by my participation in the care of truly exceptional cases - terribly ill babies and their courageous parents. Back in 1988, I was called STAT to attend the delivery of Emily, a baby born with infantile polycystic kidney disease, or IPKD. Her pediatrician needed help as he was confronted with this newborn in severe respiratory distress. Emily was born to highly educated, talented parents - her mother was a lawyer and her father a theoretical chemist. Emily was a much wanted and planned pregnancy. Her older sister was seven years old.

When I arrived in the delivery room, Emily was blue and struggling to breathe despite receiving some blow-by oxygen. After quickly examining her, I noted her bell-shaped thorax, her deep chest retractions, poor breath sounds, and her protuberant abdomen which contained easily palpable, large cystic kidneys. They felt like two huge, hard bunches of grapes.

I suspected that she had Potter’s syndrome, and this beautiful little girl did prove to have infantile polycystic kidney disease. IPKD often presents with Potter’s syndrome — the most severe cases have very low amniotic fluid and as a result they are born with smushed facial features, a bell-shaped thorax, and severe respiratory distress resulting from underdeveloped lungs. IPKD is a rare genetic disorder affecting one in 20,000 children.

After Emily was intubated and supported on mechanical ventilation, we transported her to the NICU and inserted bilateral chest tubes to decompress her pneumothoraxes. Pneumothorax occurs when perforation in the diseased lung allows air to trap between the lung and chest wall, causing compression of the lung.

Thankfully, her pulmonary hypoplasia—lung underdevelopment—was not as life-threatening as typical for most infants born with Potter’s syndrome. Her kidney ultrasound confirmed bilateral polycystic kidneys. Because her kidneys’ had produced urine in utero, which in turn produced adequate amniotic fluid throughout the pregnancy, her lungs were only partially underdeveloped. The chest tubes were removed within the first week, she was easily weaned off the ventilator during her second week, and her lungs healed completely.

Although Emily continued to produce large volumes of urine during her first few weeks, her kidneys did not function effectively and soon she was in renal (kidney) failure. Serendipitously, my husband became her pediatric nephrologist, and we experienced many difficult and different emotions while working together on Emily’s case. For us it was a challenging and thought-provoking situation.

Early on, her parents were, understandably, still reeling from her diagnosis. IPKD causes severe kidney failure and leads to dialysis and ultimately the need for kidney transplantation. Liver scarring is present at birth, but liver dysfunction does not occur until later in childhood. During her first month, her parents slowly adjusted to her diagnosis and her care needs. Within a few weeks Emily began peritoneal dialysis, through a catheter entering her abdominal cavity.

The dialysis machine cycled fluid into and out of her abdominal cavity to remove chemicals and toxins that built up in the absence of proper kidney function. Her father, a brilliant chemist and university professor, would sit by her side and study the dialysis machine, its settings and functioning. Paul was a tall, handsome man who was typically quiet, although he seemed to enjoy talking with the pediatric residents about these machine settings and how dialysis works.

Emily’s mother, Joanie, a practicing attorney, was an attractive, thin woman who continually looked despondent and seemed always to be on the verge of tears. (Understandably so.) She expressed breastmilk for her baby’s nutritional support and proceeded to cope with having a chronically hospitalized baby, another child at home, and a full-time career. Most days when Joanie came in and out of the NICU to see Emily, she looked haggard. However, we always enjoyed talking about breastfeeding and any struggles she encountered while pumping her breastmilk. Whenever I answered her questions, I also commented on how cute Emily was, and that invariably made her smile.

Unlike a lot of other chronically ill babies, her daughter had truly sweet temperament, and I enjoyed pointing this out to her mother. Years later, Joanie recollected in an interview about her experience that I “was the one who got them thinking of Emily as a person.” During that period in my life, having two small children of my own, I didn’t have enough free time to get to know Joanie very well, or to support her more fully, but my husband did. Emily’s parents were agreeable, intelligent, and levelheaded, and sometimes I found it painful to watch them handle everything that happened to their daughter so courageously. Perhaps my husband and I identified with them a little too much. I often wondered if - in the same situation - I would be as calm as Emily’s mother was.

Emily went home from the hospital on dialysis when she was a few months old. My husband continued to oversee and direct her dialysis and care. In the interim, she required several readmissions to the hospital for various problems. Blood type and various other histocompatibility markers were studied among her family members, and it was determined that Emily and her grandmother were a perfect match. When she was only two years old, Emily received a kidney transplant, a miraculous gift from her sixty-year-old maternal grandmother. Theirs became a tremendous success story for the children’s hospital renal transplant program.

After my family moved away from Houston when Emily was four, Joanie and I wrote to each other and maintained contact. Later on, my husband saw Emily in the summer when she, like the other “kidney kids,” attended Camp Okawehna in Tennessee each year. Camp O was an overnight camp in the piney woods outside of Nashville, TN. These renal dialysis children always attended camp as a group. Each June, my husband and the dialysis nurses shepherded a large contingency of patients, nurses, dieticians, social workers, and physicians to attend the camp for one week.

All the children at Camp O were either on peritoneal dialysis or hemodialysis and some had already been transplanted. Emily attended camp each summer for many years, from about age eight onward. Like all the other kids there, she played with other children who were just like her and she felt normal. These “kidney kids,” as they were lovingly called, all had lines and tubes sticking out of them, and they all had scars from previous surgeries. Most were very short, having had poor growth for many years, but they still loved normal child-like activities—running, playing, kicking, throwing, competing, swimming, making craft items, and performing in talent shows. They even ejoyed a prom night each year. The Junior League of Nashville brought in used prom dresses and had them fitted for the girls to wear!

I continued to correspond with Emily’s mom for many years. We exchanged Christmas cards, family pictures, and personal letters. It was inspiring to watch her parents become champions and activists for organ transplantation. However, Emily’s life was not easy by any estimation. Throughout her childhood, she demonstrated enormous courage in overcoming some serious complications, infections, and hospitalizations, but Emily never rejected her grandmother’s kidney. She was growing into a happy teenager when her liver function began to deteriorate.

Everyone viewed Emily’s family as strong and loving. From the time Emily was eight years old, her parents and big sister lived on campus and served as student counselors at a local university. As a result, Emily grew up keen on learning and constantly surrounded by students. She was a good student herself and, despite all that she had gone through, she was praised by her teachers for her strong mind, her wit, and her sense of humor.

Despite her chronic illness, Emily loved life and grew to be fiercely independent. She performed in musical theater, played tennis, and hiked in the Colorado Mountains with her family each summer. At home she enjoyed playing the guitar and composing songs. Emily continued to do well in school and ultimately attended a small college in Texas. She was there for two years before her untimely and tragic death at age twenty. 

To this day, Emily’s mother continues to raise money for Polycystic Kidney Disease research, and she served on the board of the International Polycystic Kidney Disease Foundation for many years. Both Joanie and Paul continue to serve as advocates for organ donation in Texas.

All throughout my career, my husband and I received profound gifts from knowing special people like Paul and Joanie, extraordinary parents who settled close by our sickest patients and slowly revealed their loving and caring character. Knowing them and their little girl was truly a blessing.

In the U.S., we celebrate National Donate Life Month in April each year, and Living Donor Day is the first Sunday in April, and this year it falls on April 6th.

This story is an excerpt from my memoir, “So Many Babies” which you can access here.

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