Cracking the Code of Genetic Disorders

By Alicia Renck, MD

Pediatric Resident at The University of Texas at Austin Dell Medical School

Member, Texas Medical Association

Have you ever heard the phrase, “It’s in your genes?” You probably believe it refers to a personality trait or an activity at which you are particularly talented and likely share with other family members. Genes are more than that: They are an essential part of you that help determine almost all aspects of who you are, including a myriad of possible genetic disorders.

What are genes?

You might remember from biology class that humans are made up of millions of cells. Each cell’s nucleus contains chromosomes, which are made up of tightly wound strands of DNA. Most of us have 23 pairs of chromosomes; one set from mom, and one set from dad. Segments of DNA put together make up your genes. These genes make up the recipe for making you. We all have DNA, so we all have genes. As with DNA, you inherit half of your genes from your mother and half from your father. The reason you and your siblings are not exactly alike is that when your mother’s and father’s genes come together into one cell, and it divides over and over again, the genes develop changes called mutations that alter the recipe slightly.  This is why no two people are exactly alike, even identical twins!

What is a genetic disorder?

A genetic disorder is a medical condition caused by mutations that lead to more than just a slight change. These mutations are enough to alter the function of the product of the gene. Take cystic fibrosis (CF), for example – a progressive, hereditary disease that causes persistent lung infections and complicates breathing. In CF, a mutation makes abnormal proteins used to transport chloride that lead to problems with lung and pancreatic function, among other things.

A genetic disorder also can be a change in the number of chromosomes or the shape of the chromosomes. For example, people with Down syndrome have three copies of chromosome No. 21 instead of two copies. Scientists have identified more than 6,000 genetic disorders, and more disorders are discovered and described every year. Each one of these disorders is different.  

How do you know if you have a genetic disorder?

Doctors evaluate all people for signs of genetic disorders, beginning with the first physical exam at birth. Pediatricians follow patients’ growth and development. They also get a good family history to screen for conditions that might run in your family. It is best to see your doctor if you have concerns that you might have a genetic disorder.

How do you support someone with a genetic disorder?

1.      Do not make assumptions. It can be incredibly frustrating to people and their families when others make assumptions about their conditions. It is best to ask polite questions and to read up on a condition than to assume what someone is or is not capable of based on his or her appearance.

2.      Be kind. People with genetic disorders are just that – people! Treat them the same way that you would treat anyone else you meet. People with genetic disorders often are targets of bullying. Do not participate in acts of bullying, and do not laugh at people when they bully another person. Be kind to all people, no matter how different from you they may be.

3.      Use sensitive language. The appropriate phrasing to use is “a person with X,” commonly known as people-first language. For example, say “She is a person with Down syndrome.” It is very hurtful and insensitive to say “the Down’s kid,” or similar phrases. The person you’re talking about is not defined only by his or her disorder!

4.      Know that not all genetic disorders are visible. Many people with genetic disorders look typical, or “normal,” such as those with cystic fibrosis and phenylketonuria (PKU). (PKU is a condition in which the body is unable to break down an amino acid called phenylalanine. It can cause health problems if left untreated.) It is important to be aware that not all genetic disorders are readily apparent.

5.      Be understanding. For the family of a person with a genetic disorder, everyday tasks can sometimes be more challenging, especially if that genetic disorder causes physical or cognitive limitations. It might take a family longer to get ready, causing them to be late to events. They may need to know about events further in advance as well. Keep this in mind when making plans, and work to be understanding and accommodating.

Our genes are responsible for making each of us who we are, whether we have natural red or brown hair, or we possess a genetic disorder. It’s all part of the fascinating medical science of being human.