Answer to Question #2569 Submitted to "Ask the Experts"

Q

I am a mother of two boys. The first was born 27 July 1993. He was conceived after my husband returned home from Desert Storm. I had a problem-free pregnancy. I had an ultrasound at seven months and everything seemed fine. I was 33 years old when I gave birth. Our son was diagnosed at five weeks old with Tetrasomy 18p.

The doctors performed all genetic testing on everyone in my family and there is no reason for this. Except what they said to me "he is an accident of nature." When he was three years old, he was diagnosed with Hirshprung's disease. My other son was born in April 1995 and is very healthy. Our first son is almost 10 years old now and every single day is a struggle. He is one of 30 case studies in the world with this disorder, and none quite like him, which makes him only one in the world that we know of.

My question is: Was he born this way because of the exposure my husband received to toxic clouds of smoke and bombs when he was in Desert Storm? He was in the Air Force and flew on C-5s. He was in Dahran when the bombing began. He stayed over there almost the whole time.

A

I am sorry that you have this serious medical problem with your first born. There is no question that this has placed a serious burden on your son and all the members of your family. The chromosome abnormality that your son has is not the most common of the chromosome abnormalities. You did not tell me whether your son was a mosaic or that all his cells manifested this abnormality. Nor did you tell me whether you and your husband have been tested for a balanced translocation with this abnormality. If you answer no to both these questions then the genetic abnormality occurred during the development of your egg or your husband's sperm or at the time of fertilization.

There have been a number of human studies performed to determine whether there was an increase in genetic disease or birth defects in the families parented by veterans returning from Desert Storm compared to the troops who never went overseas. There was no difference between the two groups. Furthermore, although many of the medications and pollution were irritating and caused symptoms, none of them were mutagenic, that is have the capacity to cause an increase in genetic disease.

The most likely explanation for your son's chromosome defect is that it was, unfortunately, a spontaneous error during cell division—a spontaneous mutation. I cannot say with 100% assurance that there was not anything in Iraq that your husband was exposed to that caused this problem, but the data do not support that hypothesis.

Robert L. Brent, MD, PhD, DSc