At Alzein Pediatrics, we care for children that have their father’s beautiful brown eyes, or their mother’s gorgeous red hair. Sometimes, that red hair may seem to pop up out of nowhere, until an older relative says, “Oh, your great-grandpa was a red head!” Many families have an inherited trait that seems universal throughout all the siblings and cousins, like a crooked pinkie or extra long eyelashes.
Scientifically, these traits prove the theories of genetics. Gregor Mendel founded this field by experimenting with pea plants over 170 years ago. Further studies and scientific advancements have expanded our understanding of human genetics and how our genes impact our health. In many cases, we can now identify conditions in prenatal screenings or before symptoms develop. We understand many of the genetic mutations that cause particular conditions, and we can estimate the likelihood of passing the condition on to our children.
With the increase in genetic screening, as many as 20% of parents reported a child with a genetic disorder diagnosis in a recent C.S. Mott Children’s Hospital poll. Nearly half of all parents surveyed expressed concerns about their children developing a hereditary condition.
A genetic disorder exists when a mutation affects the expected functioning of the genes. Doctors distinguish genetic disorders based on their underlying cause. Some disorders are caused by mutations in the chromosome, like in Down Syndrome, or in a single gene, like in Cystic Fibrosis. There is also third category called complex or multifactorial disorders. These are conditions that have an identified genetic component that increases the risk for those diseases but involve other factors like diet and lifestyle choices to develop, such as Type 2 diabetes, coronary artery disease, and arthritis.
Research also catagorizes genetic disorders based on how they travel through the gene pool. Just like in Mendel’s pea plants, some disorders are dominant genetic traits and some are recessive. In an Autosomal Dominant disease, only one copy of the mutation needs to get passed on from a parent. In an Autosomal Recessive disease, both parents would need to contribute a mutated gene for the condition to be present in the child.
There are clear advantages to genetic and prenatal screening, even though we cannot cure most genetic disorders. Screening can help parents make informed choices about preparations and support. In many cases, a team of specialists, therapists and caregivers can be present and involved from the moment of a child’s birth. Parents can gather information and act to avoid exacerbating a genetic predisposition and to maximize function and capabilities before symptoms develop.
For instance, if parents have a family history of heart disease, they will want to establish healthy exercise and diet habits, and explain the why of these lifestyle choices with children. If either family has a history of struggling with depression, addiction or other mental health issues, it’s vital to properly monitor the child’s mental health, particularly as they near adolescence, and openly talk about the damage alcohol and other substances can do.
If you don’t know what runs in your family, ask your relatives – parents, grandparents, siblings, cousins, aunts and uncles.
Full and robust family medical histories are increasingly useful in your child’s medical record. Your Alzein Pediatrics provider can give you a better understanding of any genetic conditions existing in your families, how those diseases get passed along, and how we can help prevent symptoms from developing or manage symptoms for the highest possible quality of life for your child.
Do you have questions or concerns about your child’s family history? Just message your provider. We are always happy to help!
