Brian’s Story
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Brian’s Story
Picture of young Brian
Brian was born in 1989 to affluent parents; Hugh and Gladys, who were in their early forties. When Gladys found out she was pregnant in her forties, her doctor suggested that Gladys be tested for Down syndrome. Gladys refused to have an amniocentesis done. He had an older brother, Paul who was away at boarding school when he was born. Brian was diagnosed with Trisomy 21. There are three types of Down syndrome: Trisomy 21, Translocation Down syndrome, and Mosaic Down syndrome. The diagnosis was suspected based on Brian’s physical appearance at birth. It was confirmed by analysis of his chromosomes.
Gladys and Hugh were devastated by the news that their child was “less than perfect”. They could not possibly bring this child home, what would their friends and business associates think? This child would require too much time and care for their lifestyle. Their view evolved and changed after reading about Down syndrome, learning the benefits of therapies like early intervention, and long discussions with peer groups (e.g. other parents of children with Down syndrome).
![A photograph of a newborn with Down Syndrome.](https://ecampusontario.pressbooks.pub/app/uploads/sites/2768/2022/07/Brian2-278x300.jpg)
Brian had difficulty breathing and the physician noticed Brian had blue-tinged skin, a heart murmur (an abnormal whooshing sound caused by turbulent blood flow). Several tests were ordered:
- Echocardiogram
- Electrocardiogram
- Chest x-ray
- Oxygen level measurement
- Cardiac catheterization
Brian was diagnosed with Tetralogy of Fallot, a rare condition caused by a combination of four defects that are present at birth (congenital). These defects cause oxygen-poor blood to flow out of the heart and to the rest of the body.
Tetralogy of Fallot occurs during fetal growth, when the baby’s heart is developing. While factors such as poor maternal nutrition, viral illness or genetic disorders might increase the risk of this condition, in most cases the cause of tetralogy of Fallot is unknown.
The lungs of children with Down syndrome do not develop as fully as in the general population. Consequently, the growth of blood vessels throughout the lungs is limited. The narrowed arteries of the lungs hold potential for lasting consequences due to the increased pressure and flow of blood through the lungs.
Treatment
Surgery is the only effective treatment for Tetralogy of Fallot. Brian was two weeks old when he required temporary surgery due to his underdeveloped pulmonary arteries (hypoplastic). A bypass (shunt) was created between a large artery that branches off from the aorta and the pulmonary artery.
After six months, the cardiologist deemed Brian strong enough to undergo ‘intracardiac repair’. This is an open-heart surgery that involves several repairs:
- Removal of the shunt
- Patch over the ventricular septal defect to close the hole between the ventricles
- Repair or replace the narrowed pulmonary valve and widens the pulmonary arteries to increase blood flow to the lungs
The surgery was a success and Brian was eventually discharged home.
Brian required regular medical follow-up to maintain good health:
- Routine follow-up care – regular check-ups with a cardiologist, primary physician routine exams, medications that are prescribed, routine dental care
- Heart-healthy lifestyle – heart-healthy eating, physical activity, maintaining healthy weight
- Emotional health – may feel isolated, sadness, and frustration
Brian’s only interactions were with the “hired help”. His father Hugh was working constantly and his mother Gladys went to see him once each day, but did not interact with him. He was homeschooled for most of his life, as a pre-teen and teen, he formed strong bonds with his workers and struggled with changes in staff and routine. This led to frustration and anger. As an adult, Brian was given the opportunity to work part-time at the local grocery store. This provided a great sense of accomplishment in that he was making money and socializing with his co-workers. With his extra money, he was able to join a recreational swimming program at the private fitness club. Nonetheless, Brian’s parents had aged and were concerned about his long-term well-being.
Case Key Words
Key Words: Cardiovascular-circulation, Cardiovascular-heart, Down Syndrome, Fetal Development, Genetic Disorder, Heart Surgery, Intellectual Disability, Physical and Developmental Problems