patients often find themselves learning a lot about different medical conditions as a result of their efforts to learn more about their disease. There’s little the doctors can really tell you about fibromyalgia since we don’t really know that much about it. But a lot of the conditions you end up reading about are genetic disorders.
These types of disorders have a lot in common with fibromyalgia. They’re often rare and often there’s no cure, just like fibromyalgia. And learning about these conditions can help you understand more about how your body works. So here are some things you should know about genetic disorders.
What Are Genetic Disorders?
Genetic disorders can vary widely in terms of symptoms. But they all share the same root cause. Genes. Our genes are traits that affect our DNA based along from parents to child. Your genes determine everything from your eye or hair color to how tall you are. In addition, they can have less obvious effects on your body. Your genes influence things like how likely you are to gain weight or your vulnerability to certain diseases.
But sometimes, you can inherit genes that lead to devastating disorders. These kinds of disorders are present from birth, though they often don’t become noticeable until symptoms start a few years later. Although, this is not always true. And you can often inherit conditions from your parents when they themselves don’t suffer from it.
That’s because some of the genes that cause these conditions are recessive. These genes are different than dominant genes. While you need a set of two recessive genes to see the effect, you only need one dominant gene. So, it’s possible to carry the recessive genes that lead to a disease and be completely unaware. When two people who carry these recessive genes have a child, the child can end up developing that disease. But it’s also possible for these same people to have a child without it.
Not only that, but it’s also possible for genes to mutate within a single generation, leading to a child developing a disease when they’re parents don’t have the necessary genes. The role of genetics is incredibly complicated, which complicated the ability of doctors to treat these diseases.
How Are They Treated?
One of the worst aspects of diseases like these, besides the devastating impact they can have on a child’s life, is the fact that most don’t have cures. Because it is the genes that are responsible, it’s impossible to cure them by simply treating an underlying condition as you would with a condition like high blood pressure.
Most treatments for genetic disorders rely on treating the symptoms and complications rather than the underlying cause. But the huge range of different genetic disorders means the way they are treated varies as well. Some conditions, like Down Syndrome, can’t really be treated. Instead, parents of people with these kinds of conditions tend to focus on helping their children live a normal, productive life. And it’s important to remember that people who suffer from these kinds of conditions can live a normal life. They sometimes just require things like speech therapy or extra help with school work.
For conditions that do create life-threatening physical symptoms, like cystic fibrosis, treatment focuses on managing those symptoms. For cystic fibrosis, this involves finding ways to remove the build up of mucus in the lungs or clear blockages in the intestines which result from these conditions.
Until we have more effective ways of treating genetic disorders, these kinds of treatments focused on symptoms are the best we can hope for.
Luckily, there is a lot of exciting research currently being conducted to find ways to cure the underlying gene mutations that lead to these conditions. Gene therapy is an experimental treatment that aims to change someone’s genetic makeup. Essentially, researchers use an artificially mutated virus to carry new genes into the patient’s cells. These genes then replace the defective genes, hopefully curing the underlying disorder.
Sounds like science fiction, doesn’t it? And that’s why we are still likely to be a decade or more away from effective gene therapy treatments. But the research is very real and has been quite promising. Recent studies into using gene therapy to treat conditions like Parkinson’s have shown good results.
So, do you suffer from a genetic disorder? What is life like for you? What treatment works best for you? Are there any treatments you’re excited about seeing developed? Tell us in the comments.