Severe Tetralogy of Fallot at Birth Leads to 22q-11 Deletion Syndrome Diagnosis Later in Life

February 25, 2016

by Michelle Padilla

I was born with a congenital heart disease called Severe Tetralogy of Fallot.

According to the NIH:

Tetralogy (teh-TRAL-o-je) of Fallot (fah-LO) is a congenital heart defect. This is a problem with the heart’s structure that’s present at birth. Congenital heart defects change the normal flow of blood through the heart. Tetralogy of Fallot is a rare, complex heart defect. It occurs in about 5 out of every 10,000 babies. The defect affects boys and girls equally.

To understand tetralogy of Fallot, it helps to know how a healthy heart works. The Health Topics How the Heart Works article describes the structure and function of a healthy heart. The article also has animations that show how your heart pumps blood and how your heart’s electrical system works.

Tetralogy of Fallot involves four heart defects:

  • A large ventricular septal defect (VSD)

  • Pulmonary (PULL-mun-ary) stenosis

  • Right ventricular hypertrophy (hi-PER-tro-fe)

  • An overriding aorta

I was born a month late. I was supposed to be born on March 18th, but didn’t arrive until April 15th 1976. It was a scary birth because I came out a blue baby from a lack of oxygen that went to the brain.

Since then, I have three open heart surgeries ,two sinuses surgeries,one mouth surgery, one ear surgery. I had aGrand map seizure at the age of eighteen, and because of that, I suffered brain damage. I was in a comma for about a week.

At the age of 35 I was diagnosis with a rare syndrome called 22q-11 and no one in my family has it.

Despite the challenges of my disease, I’ve been able to have a full life. I have gotten my AA degree at Los Harbor College. I am now a student at Cal State Dominguize , where I am a DJ for my local radio station called KDHR. I hope to have my BA in human services by next year. I want to be advocating for those that need a voice, especially those with rare diseases and other disabilities . This my story.

Stay Connected

Sign up for updates straight to your inbox.