Here is a testimonial shared by Alison and Jack Tilling of their experience at the birth of their son:
“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. I asked him what had happened. He looked at me and responded in a calm and gentle manner that Jack was in a coma and that he was struggling to breath. He assured me again that he would not stop breathing for him. He could see the confusion and the look of despair on my face. He asked me, “What is your beautiful baby’s name?” I told him his name. He looked at me and said, “Don’t worry mum, with a name like that he will defy the odds against him”. “Hy gaan julle rowe Jack wees”. I looked down at my baby and he was unresponsive. I called out his name and desperately wanted to hold him. 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.
He 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 the neonatologist, Dr. R. Dippenaar read about a baby who suffered from a condition called Scot Deficiency. SCOT deficiency is a metabolic disease that is caused by reduced or missing levels of an enzyme called succinyl-CoA:3-ketoacid CoA transferase (SCOT). This enzyme is necessary for the body to use ketones. Ketones are substances produced in the liver when fats are broken down. Ketones are an important source of energy, especially when there is a shortage of carbohydrates (sugar). SCOT deficiency is characterized by episodes of ketoacidosis (build-up of ketones in the body). Symptoms of ketoacidosis may vary but can include trouble breathing, poor feeding, vomiting, and lethargy. In some cases, the symptoms can progress to include loss of consciousness and a coma. He recognised the symptoms displayed and immediately started the treatment. Jack was taken off protein, intravenous fluids and sodium benzoate was administered 4 times a day. He showed immediate signs of improvement and gained consciousness. An MRI was done to see if Jack had suffered any neurological damage. Fortunately he did not. Tissue samples were taken and sent to the UK to confirm if he does have Scot deficiency. We are still waiting for the test results to this day.
Protein was slowly introduced, and this was based on his weight and how his body was responding to the amount of protein given. Sodium benzoate, L’ Carnitine and L’Arginine, combined with Energyvit and Duocal, (protein free and high carb medical formula) was given. Tests for Nags, and Isavoleric Academia were done both came back negative. 2 years after that fateful night in hospital and we still had not made any progress with a conclusive diagnosis.
I needed help and was desperate to get a diagnosis. Jack’s paediatrician suggested that we see specialists at Red Cross children’s hospital. They would be able to help him as they diagnose and treat children with rare diseases.
Jack was under the care of Geneticist, Professor Ambrose Wonkam. He had never dealt with a case study as complicated as Jack’s. He said that he would be in contact with his peers in the medical fraternity to get more information about Scott Deficiency. As a mother I felt that I could not sit back and do nothing. I did research and found a professor in Tokyo, who specializes in Scot Deficiency and other Inborn Errors as well as metabolic deficiencies. I emailed Professor Toshi Fukao and explained Jack’s story. He advised that it would be easier for him to speak to Dr. Karen Fieggen the head of Genetics at Red Cross.
Looking at all the tests done, Professor Fukao was certain that it was not Scott deficiency, he suggested we do genetic testing on myself and my husband and that several urea cycle disorder tests be done on Jack.
DNA samples were taken from us, and urea cycle disorder tests done on Jack and sent to John Hopkins in USA. Finally after 2 and a half years of making peace with the fact that we would probably never have a conclusive diagnosis, and were happy managing whatever condition he might have, it was confirmed, Jack had a Urea Cycle Disorder called CPS1.
Carbamoyl phosphate synthetase I (CPS1) deficiency is an inherited disorder that causes ammonia to accumulate in the blood (hyperammonemia). 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. In the first few days of life, infants with carbamoyl phosphate synthetase I deficiency typically exhibit the effects of hyperammonemia, which may include unusual sleepiness, poorly regulated breathing rate or body temperature, unwillingness to feed, vomiting after feeding, unusual body movements, seizures, or coma. Affected individuals who survive the newborn period may experience recurrence of these symptoms if diet is not carefully managed or if they experience infections or other stressors. They may also have delayed development and intellectual DISABILITY. In some people with carbamoyl phosphate synthetase I deficiency, signs and symptoms may be less severe and appear later in life.
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. My marriage is stronger, because of Jack and I have learned to be a better mother to both my children. My oldest son, Ross loves his brother and their bond is unbreakable. Ross is Jack’s hero and he does everything his brother does. Climbs trees, skateboards, albeit his own way. Jack gets hurt and gets grounded and chastised when he steps out of line. Absolutely no special treatment is given to him. I raise them both the same way, allowing each one to discover their potential and also to know their limitations.
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.
Many parents have lost their babies after birth or months thereafter with an inconclusive cause of death. There is evidence to suggest that Urea Cycle disorder could be the cause of death in infants and babies. Their deaths are thought to be cot deaths or SIDS but in fact something that can possibly be prevented, by doing newborn screening. A simple blood test to screen for high ammonia levels could be the difference between life or death, or a life long struggle of developmental delays.
The objective of this article is to share Jack’s story, so others going through Urea Cycle Disorder and those who will have children born with this condition, know they are not alone. It is also to raise awareness of the condition amongst paediatricians, doctors and all medical staff that are concerned with management of newborns and children, to be aware of the severity of this condition. I want to emphasize the importance of newborn screening, so that medical boards make it mandatory that they get done as soon as babies are born.
As you are aware and probably witnessed, if undetected and untreated Urea cycle disorder could cause permanent brain damage, developmental delays and death. This is where I feel I am compelled to get the conversation started about newborn screening.”