Empowered by Knowledge: Example Genetic Disorders with Manageable Treatment Options

In the United States, over 30 million people live with rare or undiagnosed diseases, often facing long wait times and high medical costs to find answers. But with FORESITE 360's genomic testing, you can eliminate the hassle and get peace of mind along with a plan of action. Learn about four genetic conditions (of hundreds tested with FORESITE 360) that can be revealed through genetic testing and have treatment plans available now.

Ataxia with Isolated Vitamin E Deficiency (AVED)

TTPA Gene

Ataxia with Isolated Vitamin E Deficiency (AVED) is a rare inherited disorder that typically appears in infancy or childhood. It is a progressive disease characterized by the inability to absorb and utilize vitamin E from food, leading to symptoms such as loss of muscle coordination, slurred speech, and difficulty walking and speaking.

AVED is caused by a genetic variation in the TTPA gene, which normally produces a protein called alpha-tocopherol transfer protein. This protein helps the body absorb and utilize vitamin E, an important antioxidant found in nuts, seeds, fruits, and vegetables that protects the body, including the brain's neurons, from damage caused by free radicals.

With genetic testing from FS360, you can detect AVED even before symptoms arise. Treatment is simple and involves extra vitamin E supplementation to replace what the body is unable to absorb. Supplements can be given orally or through an IV. Proper treatment can generally result in a good prognosis, with slowed progression of the disease and potential improvement in neurological symptoms.

Carnitine Palmitoyltransferase IA Deficiency 

CPT1A Gene

Carnitine palmitoyltransferase IA deficiency (CPT1A) is a metabolic disorder that impairs the body's ability to break down dietary fat, resulting in the accumulation of toxic substances. This condition typically manifests in the first six months of life and is characterized by symptoms such as poor feeding, inadequate growth, vomiting, low blood sugar, and an enlarged liver. If left untreated, CPT1A can lead to metabolic complications and damage to the liver and heart.

The underlying cause of CPT1A is a genetic variation in the CPT1A gene, which normally codes for a protein that facilitates the breakdown and utilization of fat for energy. CPT1A is a rare condition, estimated to affect approximately one in 17,000 individuals worldwide. It follows an autosomal recessive inheritance pattern, meaning that both copies of the gene must be affected for the disease to manifest, with each parent typically carrying one copy without showing symptoms.

Early detection of CPT1A through genetic testing using FORESITE 360 can enable prompt initiation of treatment even before symptoms appear. Treatment for CPT1A involves a combination of dietary and lifestyle modifications, including a low-fat diet and supplementation with carnitine and medium-chain triglycerides. With appropriate treatment, symptoms can be effectively controlled, and further complications can be prevented. The long-term prognosis for individuals with CPT1A is generally favorable with timely and adequate management.

Marfan Syndrome and Other FBN1-related Disorders (FBN1)

FBN1 Gene

Marfan syndrome is a disorder of connective tissue that affects many parts of the body, including the skeletal system, cardiovascular system, and eyes. Symptoms vary greatly and can include a tall, thin body type, flat feet, flexible joints, spine curvature, heart defects, skin stretch marks, dislocation of the eye lens, and a protruding or indented chest.

Marfan syndrome is caused by a mutation in the FBN1 gene. It is a dominant gene, meaning it can be passed by only one parent. The FBN1 gene provides instructions for making a protein called fibrillin-1, which is a component of connective tissue. When this gene is mutated, the body does not produce enough fibrillin-1, which leads to weak connective tissues and allows the body to stretch abnormally under stress.

Diagnosis of Marfan syndrome is often difficult since symptoms vary greatly, even within the same family. Genetic testing with FORESITE 360 can give timely answers and remove the long road to diagnosis. Treatment can include medication or surgery. The prognosis depends on the severity of the symptoms, but in general, people with Marfan syndrome can expect a normal lifespan if their condition is monitored and treated appropriately.

Lynch Syndrome 

MSH2 Gene

Lynch syndrome, also known as hereditary nonpolyposis colorectal cancer (HNPCC), is a genetic disorder that increases the risk of certain types of cancer, particularly colorectal cancer. People with Lynch syndrome may experience various gastrointestinal symptoms, such as abdominal pain and changes in bowel habits. Non-cancerous colon polyps are also common in people with Lynch syndrome. 

As cells divide, DNA is copied. Sometimes DNA copying mistakes are made, but certain genes provide mechanisms to repair the problem. Lynch syndrome is an inherited condition where you have a mutation in one of your DNA repair genes. This can allow mistakes to remain and cells to divide abnormally, which may result in the development of cancer. 

By finding a positive result for Lynch syndrome through FORESITE360, you can start screening for cancer before any symptoms arise. Treatment involves regular cancer screenings and constant monitoring. People with Lynch syndrome may also be advised to make lifestyle changes to reduce their cancer risk, such as quitting smoking and eating a healthy diet. With early detection and active surveillance, the prognosis for people with Lynch syndrome is generally good. 

Conclusion

The power of genetic testing with FORESITES360 goes beyond just providing peace of mind. It equips you with knowledge and a proactive plan of action, eliminating the need to wait for problems to arise. As we discussed four genetic disorders that can be effectively managed through medication, diet, lifestyle changes, or early surveillance, it's important to note that there are many more conditions that can benefit from early intervention. With FORESITES 360, you can skip the years of uncertainty and endless visits to specialists, and instead, take charge of your child's health by implementing a comprehensive plan for a healthy future.

Sources:

https://rarediseases.info.nih.gov/diseases/8595/ataxia-with-vitamin-e-deficiency

https://medlineplus.gov/genetics/gene/ttpa/

https://medlineplus.gov/genetics/condition/carnitine-palmitoyltransferase-i-deficiency/

https://rarediseases.org/rare-diseases/carnitine-palmitoyltransferase-1a-deficiency/

https://www.nhs.uk/conditions/marfan-syndrome/

https://medlineplus.gov/genetics/condition/lynch-syndrome/