background participants

Participant 150

On this page, you will find information about a UDN participant.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here. While these participant pages are helpful to understand our participants’ stories, they do not begin to describe their diagnostic odysseys. A special thank you goes out to our participants and their families for sharing their experiences.


Female, age 7 with respiratory failure, feeding difficulties and global developmental delay caused by changes in the TBCK gene

Date of Report

Apr 02, 2020


The participant was born after a normal pregnancy and cesarean section delivery. She spent 9 days in the neonatal intensive care unit after birth because of difficulty feeding and respiratory issues. An x-ray found that her lungs were dilated and she was placed on CPAP. At that time, it was also found that she had weak cartilage in the larynx and trachea (laryngotracheomalacia); however, surgery was not needed. She was sent home but still had difficulty feeding and had to be spoon fed.

At about a month old, the participant was taken back to the hospital because of vomiting and was found to have gastroesophageal reflux. It was also noted that she had low muscle tone (hypotonia). She underwent an echocardiogram which showed a heart defect (patent foramen ovale).

At 15 months of age, the participant had an abnormal sleep study and was found to have abnormal brain activity (EEG with generalized slow activity). Around this time, she was also diagnosed with vision impairment.

At 3 years and 10 months old, the participant had a severe cold, and suffered a respiratory arrest after a coughing spell that left her limp and unresponsive. She was intubated and diagnosed with pneumonia. Two weeks later, she failed extubation, coded, and required CPR in the intensive care unit. She was re-intubated again.  In order to widen her airway passage, a decision was made to perform Tonsillectomy and Adenoidectomy (T&A). She suffered severe hemorrhage subsequent to her T&A surgery. It was finally decided to place a tracheostomy tube to help with the breathing difficulties. The same year, she also had a gastrostomy tube placed to help with chronic bloating (abdominal distension).

An MRI performed at a later date found that there had been some brain damage as a result of the respiratory arrests and coding owing to failure during extubation.

The participant is currently non-verbal and requires ventilation throughout the day. She is part of a home learning program and is alert and responsive.

Symptoms / Signs
  • Global developmental delay
  • Intellectual disability
  • Abnormal brain activity (EEG with generalized slow activity)
  • Brain abnormalities (hydrocephalus, extra-axial cerebrospinal fluid accumulation, anterior horn cell disease)
  • Coarse facial features
  • Visual impairment (cerebral)
  • Weak cartilage in walls of larynx and trachea (laryngomalacia, tracheomalacia)
  • Respiratory failure requiring assisted ventilation
  • Ventilator dependence
  • Repetitive air swallowing (aerophagia)
  • Heart defect (patent foramen ovale)
  • Cardiac arrest
  • Feeding difficulties
  • Chronic abdominal bloating (abdominal distention)
  • Gastrostomy tube feeding in infancy
  • Acid reflux (gastroesophageal reflux)
  • Loss of bladder control (urinary incontinence)
  • Loss of bowel control (bowel incontinence)
  • Inability to straighten finger (flexion contracture of finger)
  • Low muscle tone (generalized hypotonia)
  • Sleep disturbances (severe obstructive sleep apnea)
Current Treatments
  • Albuterol – breathing difficulties
  • Vitamin D
  • Eye lubricant – exposure keratopathy/corneal scar
Prior Treatments
Considered treatments
Previously Considered Diagnoses
  • Congenital disorder of glycosylation
  • Microdeletion/duplication syndrome
  • Mitochondrial disorder
  • Pallister-Killian syndrome
  • Spinal muscular atrophy
Other Photographs
Genetic Variants of Interest

Clinicians and researchers have identified the following genetic changes to be causing the participant’s symptoms:

Inheritance Pattern
Position (hg19)
DNA Change
Protein Change
Autosomal recessive
see gene page
see gene page
see gene page
see gene page

If this participant sounds like you or someone you know, please contact us!


The information provided here is based on individual patient experiences. This information is not meant to substitute for advice of a qualified health care provider. Please do not use this information to diagnose or develop a treatment plan for a health problem or disease without consulting a qualified health care provider.

Any mention of products or services is not meant as a recommendation of the products or services. Please discuss any options with a qualified health care provider.

Developments in medical research may impact the information that appears here. No assurance can be given that the information in this site will include the most recent findings or developments.

The use of any information provided on this site is solely at your own risk.