Are you predisposed to these genetic diseases?

July 27, 2017 Swedish Blogger

a mother and her adult daughter laugh and play the piano together


In this article:

  • We may be more susceptible to certain diseases based on genetics, ethnic background or other inherited factors.

  • While it may be hard to face a heightened risk for these common illnesses, early treatment and lifestyle changes may help prevent them or mitigate the symptoms.

  • Genetic counselors at Swedish can help you determine your risks.

Whether you are predisposed through your relatives or because of your ethnic background, the truth is that some diseases are impossible to avoid. While this might be tough to take, the good news is that medicine is an ever-changing field, so it's likely that treatments or programs are or will be available should you ever be confronted with genetic disease. There are many genetic diseases, though some are more common than others. Here's a glimpse into the most common genetic diseases today.

1. Cystic fibrosis

Over 30,000 Americans live with cystic fibrosis. A progressive disease, cystic fibrosis causes a thick buildup of mucus in the lungs that clogs the airways and makes it possible for bacteria to thrive — leading to extensive lung damage and in some cases, respiratory failure. In the United States alone, over 1,000 new cases of cystic fibrosis are diagnosed each year. Although the most common therapies include respiratory airway clearance, inhaled medicine and pancreatic supplements, patients who are diagnosed should speak to a medical professional to establish a customized treatment plan.

2. Sickle cell anemia

Sickle cell anemia is one of the most severe forms of sickle cell disease. Patients with sickle cell anemia don’t have enough healthy red blood cells to carry the necessary amount of oxygen throughout their bodies. While normal cells are round and can easily pass through your blood vessels, sickle cells are rigid and shaped like crescent moons. Because of their shape, they get stuck in the blood vessels and block blood flow to the rest of the body. Unfortunately, there is no cure for sickle cell anemia, but there are several treatments that can make the disease more bearable.

3. Down syndrome

Normally, each cell in our body houses a nucleus that contains 23 pairs of chromosomes. When someone has Down Syndrome, it means that their nucleus contains a full or partial extra copy of chromosome 21. The extra chromosome alters the patient’s development and causes several characteristics including weak muscle tone, slanted eyes and a flattened facial profile. Down syndrome is considered the most common chromosomal condition, and about 6,000 babies are born with the disease in the U.S. each year. Down syndrome isn’t linked to any specific race, although most cases occur when women aged 40 and older give birth.

4. Huntington’s disease

One of the most fatal genetic diseases, Huntington’s causes a breakdown of nerve cells in the brain. Depending on the stage of the disease, patients might experience involuntary movements and changes in thinking and reasoning abilities. More advanced symptoms include weight loss and an increased possibility of choking. Because every child of a parent with Huntington’s disease has a 50/50 chance of carrying the gene, it’s known as the most typical of the inherited diseases. There is no cure for Huntington’s disease, although there are certain tests you can take to determine if you or your child are at risk.

5. Hemophilia

People born with hemophilia experience little to no blood clotting. Because of this low clotting factor, wounds that normally should heal within a few hours take longer, resulting in more blood loss. Patients with hemophilia are also at risk of developing other complications, especially related to excessive internal bleeding. Although hemophilia is mostly an inherited disease, it’s possible to develop it throughout your lifetime.

6. Alzheimer’s

As the most common form of dementia, Alzheimer’s disease causes memory loss and diminished cognitive abilities such as disorientation, confusion and behavioral changes. Surprisingly, Alzheimer’s isn’t just linked to seniors. Almost 200,000 Americans under the age of 65 have early-onset Alzheimer’s disease. Although having a relative with the disease increases the likelihood of being affected, you don’t have to be predisposed to get it. Recent studies have suggested that head injuries and brain and heart health play a role in the disease. While there is no cure, a healthy lifestyle that includes exercising the body and mind can help.

7. Celiac disease

Patients who have a parent, child or sibling with celiac disease have a one-in-ten chance of developing it themselves. When someone has celiac disease, their body responds negatively to gluten, causing an immune response to attack the small intestine. This attack damages the part of the intestine that promotes nutrient absorption, making it difficult for the body to get the nutrition it needs to fend off future health problems. Most patients with celiac disease opt for a gluten-free lifestyle and avoid foods made from wheat, rye or barley.

8. Duchenne muscular dystrophy

Duchenne muscular dystrophy is a disorder characterized by progressive muscle weakness and is one of nine types of muscular dystrophy. This disease is normally passed on to the child from the mother and can begin affecting children as early as age 3. Symptoms typically include enlarged calves and weakened pelvis and hip muscles. Children and teenagers with Duchenne muscular dystrophy don’t usually feel pain, although they might feel muscle cramping at times. As with most progressive diseases, there isn’t a cure although several treatments are available that can ease your child’s symptoms and keep the disease from impacting their heart and lungs.

9. Polycystic kidney disease

Polycystic kidney disease is an inherited kidney disorder that causes fluid-filled cysts to form on the kidneys. While it is the fourth leading cause of kidney failure, most people don’t know they have it because they never experience any symptoms. It’s only until the cysts grow that patients normally start to show signs of frequent urination, fatigue, kidney stones and joint pain. If you are experiencing any of these symptoms, a medical professional will be able to perform a scan that will detect any cysts on your kidneys. Managing the symptoms of the disease is the most important thing for patients, and treatment options include antibiotics, pain medication and sometimes surgery.

10. Type 2 diabetes

Patients with type 2 diabetes experience high levels of insulin in their blood. This is because their body does not absorb sugar properly, so their pancreas produces high levels of insulin to make up for it. Most people who are diagnosed with type 2 diabetes have parents who also had the disease. In fact, if both of your parents have it then you have a 50 percent chance of also becoming affected. On the other hand, diabetes can also be developed over time due to unhealthy eating habits and weight gain. If you are predisposed to diabetes, consider changing your diet and developing an exercise regimen. There are also medical treatments that can help reduce diabetes including weight loss surgery.

These genetic disorders and diseases, among many others, are unfortunately something some people must eventually come to terms with. However, there are many research centers and clinics dedicated to finding treatments. To get a better idea of your risk factor for genetic disease and to explore treatment options, talk with your doctor.

Find a doctor

If you have questions about your risk for certain diseases, contact your primary care physician or genetic testing at Swedish. We can accommodate both in-person and virtual visits.

Whether you require an in-person visit or want to consult a doctor virtually, you have options. Swedish Virtual Care connects you face-to-face with a nurse practitioner who can review your symptoms, provide instruction and follow up as needed. If you need to find a doctor, you can use our provider directory.

Join our Patient and Family Advisory Council.

This information is not intended as a substitute for professional medical care. Always follow your health care professional's instructions.

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