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You are at:Home»Lifestyle»My little son died from a rare disease – I wish the doctors had done this cheap test sooner
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My little son died from a rare disease – I wish the doctors had done this cheap test sooner

Nana MediaBy Nana MediaNovember 7, 20254 Mins Read
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My little son died from a rare disease – I wish the doctors had done this cheap test sooner
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A Brave Fighter

Jordan Kruse realized something was wrong with her newborn Pruitt hours after she brought him home from the hospital last year. He started refusing nursing care, which was her first sign that something was amiss. What followed is the biggest fear of all new parents: the child became extremely ill with a rare, hereditary metabolic disorder and died at just 6 months old.

Early Signs of Illness

Pruitt arrived on May 17, 2024, joining his two older brothers, Paxton and Pryor. Jordan’s pregnancy was fairly uneventful, and her delivery was uneventful as well. The family was released from the hospital two days later because everything was "fortunately fine." However, disaster struck within a few hours. Pruitt wasn’t breastfeeding, and he started making strange grunting noises. It didn’t seem like he was having trouble breathing; he just seemed uncomfortable.

Diagnosis and Treatment

The Kruses took Pruitt to the emergency room, where a hectic series of labs followed. Doctors initially suspected a bacterial infection, but the tests kept coming back negative. After two agonizing days, the genetics team was finally consulted, and an ammonia test was carried out. Pruitt registered a whopping 1,256 micromoles per liter – below 90 is considered normal for full-term infants. As soon as they got the ammonia level, they were able to start treatment plans and try to get things under control. However, the late ammonia reading was very devastating, and he suffered significant brain damage due to high ammonia levels.

Understanding OTC Deficiency

It’s normal for healthy bacteria in the body to produce ammonia when they process proteins and amino acids from food. While low concentrations are safe, high concentrations can be toxic, particularly to the brain and liver. Newborns may naturally have higher ammonia levels because their livers are still developing. Elevated ammonia levels can also occur when the enzymes needed to process proteins are faulty, and the body is unable to properly remove ammonia and other waste products. This is called OTC deficiency, which affects about 1 in 63,000 Americans.

A Carrier of the Disease

Jordan learned at the hospital that she was a carrier of the OTC gene, which she passed on to Pruitt. She has a copy of the altered OTC gene and takes citrulline to help her body get rid of ammonia. She also undergoes annual tests. Pruitt’s two older brothers tested negative, a sigh of relief for the family. Jordan had no idea she was a carrier before Pruitt became ill.

A Beautiful Life Cut Short

The name Pruitt means "brave little one," and he lived up to his name. He initially spent about 45 days in the hospital while his medical team worked to lower his ammonia levels and stabilize them with the right protein diet. When Pruitt finally went home, he had a long road ahead of him. He took an overwhelming amount of medication to keep his ammonia levels under control, prevent seizures, and relax his muscles. He also had a feeding tube and hemodialysis catheter to quickly remove ammonia from his blood.

Keeping Pruitt’s Memory Alive

There were moments of joy between the constant check-ups. Pruitt visited a zoo, a butterfly house, a pumpkin patch, and an apple orchard with his older brothers. Every now and then, a smile crossed his face. He also cooed, chattered, rolled over, and seemed to find comfort in a sloth. Unfortunately, Pruitt died on November 22, 2024, while the Kruses were working to get him a liver transplant.

The Brave Little One Foundation

The family channeled their pain into a purpose and established the Brave Little One Foundation. The nonprofit organization supports families in medical emergencies, provides free adaptive clothing to children with feeding tubes, and educates about OTC deficiency and its symptoms. Ammonia testing is not routine for all newborns, but Jordan hopes it will be used more frequently in the urgent evaluation of patients who show signs of neurological problems. The test usually costs between $18 and $90. Sanford Health, the Sioux Falls hospital where Pruitt was born and treated, has already updated its protocol and added an ammonia lab. Jordan wants other hospitals to follow suit.

Adaptive clothing Amino acid Ammonia Bacteria Brain Brain damage Breastfeeding Butterfly house Catheter Citrulline Concentration Disease Emergency department Enzyme Feeding tube Food Gene Genetics Hemodialysis Heredity Human body Hypertension Hypotension Infant Infection Jordan Liver Liver transplantation Metabolic disorder Mole (unit) Nonprofit organization Pregnancy Protein Sanford Health Seizure Signs and symptoms Sioux Falls, South Dakota The Beautiful Life Toxicity
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