Jack’s Story of Living with Urea Cycle Disorder

This story comes from Alison and Karl Tilling, parents in South Africa that agreed to share their son’s story to help raise awareness about the value of newborn screening.

“My son Jack Christian Tilling was born on the 15th June 2014. He was healthy at birth, but 3 days later everything changed. After being breastfed he projectile vomited, and thereafter showed signs of lethargy. His breathing was also labored. I told the nurse that something was wrong and that he was not able to feed and was extremely tired. She said I shouldn’t worry about it and it could be that he had been fed too much and was tired. But I couldn’t shake the feeling that something was wrong.

In the early hours of the morning I was awoken by the nurse who told me my baby was gravely ill and that I had to make my way to the nursery. On my arrival I found a sight no parent should ever have to witness.

The doctor was pumping air into my newborn’s lungs as he was not able to breathe on his own. He said he had been assisting Jack to breath for the past half an hour and would not stop. The doc explained that Jack had to be transferred to a hospital that had a Neonatology unit that could help him. He was transported to N1 city hospital. He would be in a coma for the next 2 weeks.  

Jack suffered severe seizures which lasted throughout the day. High amounts of ketones were found in his urine, and his ammonia blood level reading was over 400. His prognosis for survival was not good. Chances that he suffered brain damage were high. My husband I were scared, sad and distraught. How did this happen? Was it something I had done during my pregnancy? At this point little to no progress was being made in finding out what was causing his seizures and why a newborn was in a coma.” 

But then things started to change. A week prior to Jack’s hospitalization his neonatologist, Dr. Ricky Dippenaar, had read about metabolic disorders in children that allow waste products to build up in the body. The symptoms of these disorders can include trouble breathing, poor feeding, vomiting, and lethargy. In some cases, the symptoms can progress to loss of consciousness and coma. Recognizing these symptoms in Jack, Dr. Dippenaar started a treatment protocol to lower metabolic wastes in his blood. Jack showed immediate signs of improvement and regained consciousness. An MRI was done to see if Jack had suffered any neurological damage. Fortunately he had not.

Two years passed after that fateful night in the hospital and Jack’s family still did not have a conclusive diagnosis. His doctors found that the amount protein in Jack’s diet had to be carefully managed, but it was not clear which metabolic disorder was responsible.  

In their quest for a diagnosis, Jack's parents took him to see genetic specialists in South Africa and also consulted with geneticists in other countries. After discussions among the specialists, it was suspected that Jack had a urea cycle disorder. His parents submitted DNA samples, Jack submitted blood and urine, and all of the samples were sent to Johns Hopkins University in the United States. Finally, after two and a half years, the family learned that Jack had a urea cycle disorder called CPS1 (Carbamoyl phosphate synthetase I).

"I’m grateful that my son was born with this condition. It might sound strange but it has completely changed our outlook on life. Our story could have ended in tragedy but through prayer and trust we know God can move mountains. We are able to empathize with families who deal with illness every day. We empathize with the parents and siblings of those who have sick family members. We are able to see the miracle in each new day. We have learnt to be thankful. We have learned to show compassion and love."

The CPS1 deficiency is an inherited metabolic disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The brain is especially sensitive to the effects of excess ammonia. This condition is often not diagnosed. Newborns with CPS1 may act unusually sleepy, unwilling to feed, and may vomit after feeding. Undiagnosed urea cycle disorders might be responsible for some cases of sudden infant death, where babies unexpectedly die in their sleep and no cause is found. 

Newborn screening can detect urea cycle disorders in various ways. A comprehensive genetic test could find the faulty genes. A simple blood test to screen for high ammonia levels could be the difference between life or death. Other enzymes that are tested in the newborn screening panel might be abnormal, and might lead the child’s paediatrician to call for additional monitoring and testing.

When urea cycle disorders are not detected early, they may lead to brain damage and developmental delays. Children who survive the newborn period may experience a recurrence of the symptoms if their diet is not carefully managed or if they experience infections or other stressors. In some people with CPS1 deficiency, the signs and symptoms may be less severe and appear later in life.

Today, Jack is a rambunctious 6-year-old boy who lives each day to the fullest. He follows his older brother Ross and tries to do everything his brother does.

"It’s hard for our families to see the way we raise him sometimes. They expect him to be constantly sheltered, wrapped up in cotton wool away from harm. My words to them, it would be doing my children a terrible injustice to limit their potential because of our fears. They were put on earth for a purpose. It’s my job as their mother to ensure they find their purpose, reach their potential and live their lives to the fullest."