On the 15th June 2014 my beautiful son Jack Christian Tilling was born. He was healthy at birth, but 3 days later showed signs of being ill. After being breastfed he projectile vomited, and thereafter showed signs of #lethargy and his breathing was
labored. I told the nurse that something was wrong with him and that he was not able to feed and was extremely tired, and the fact that he had thrown up so much. She said I shouldn’t worry about it, it could be that he fed too much and was tired. I couldn’t shake the feeling that something was wrong. Early hours of the morning I was woken up by one of the nurse’s saying my baby was showing signs of being gravely ill and was told to make my way to the nursery.
On my arrival I found a sight no parent should ever witness. The doctor was pumping air into his lungs because he was unable to breathe on his own. He said he had been
assisting Jack with his breathing 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 on his own, but hewould 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 that his name is Jack. He looked at me and said, ” Don’t worry mum,with a name like that he will defy any obstacles”. “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 he had to be transferred to a hospital that had a #Neonatology unit that could help him. He was transported to N1 city hospital’s Neonatology unit. He would be in a coma for the next 2 weeks. He suffered severe seizures which lasted throughout the day. High amounts of keystones were found in his urine, and his ammonia blood level reading was over 200. His prognosis of survival was not good. Chances that he suffered brain damage were high. Myself and my husband 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 new-born was in a coma.
A week prior to Jack’s hospitalization the neontologist, 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 b
ody 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).[1] 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 recognized 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 which 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. More tests were done for Nags, and Isavoleric Academia, both came back negative. 2 years later and we still had not made any progress with a conclusive diagnosis.
I needed help and was desperate to get a diagnosis. Jack’s pediatrician suggested that we see specialists at Red Cross children’s hospital. They would be able to help him as they deal with rare children’s diseases. Jack was under the care of Geneticist Professor Ambrose Wonkam. He had never dealt with a case study so rare and complicated as Jack’s, and said that 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 of me and my husband 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 #UreaCycleDisorder called
CPS1. #CarbamoylPhosphateSynthetase 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.
This might sound strange but I’m grateful that my son was born with this condition. His condition has brought us to our knees and we know that Our 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 kids. My eldest son, Ross loves his brother and their brotherly bond is unbreakable. I raise my boys the same way. Jack does everything his brother does, climbs trees, skate on skateboards, gets extremely dirty, gets hurt and gets grounded and chastised when he steps out of line. Absolutely no special treatment is given to Jack.
Sometimes it’s hard for my family to see the way we raise him. They expect him to be
wrapped up in cotton wool and put on the mantle piece away from harms way. My words to them is It would be doing both my kids a terrible injustice to limit their potential because of my fear. Both of them where put on earth for a purpose. It’s my job to make sure they find their purpose and live their lives to the fullest. I thank you that I could share Jack’s story and I can share information about Urea Cycle disorders. So many parents lost their babies in their sleep and didn’t know why their babies had died.
ammonia levels are high could save a baby’s life and could even pr cause of death in infants and babies. Their deaths is thought to be cot deaths or SIDS but in fact something that can possibly be prevented, by doing new-born screening. A simple blood test to see if ammonia levels are high could save a baby’s life and could even pr
event brain damage. Thank you that Jack can share his story and I can’t wait to be involved in this amazing organization and family.