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.
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