“A big part of the reason why pancreatic cancer is so deadly is that it’s difficult to detect early. By the time it’s diagnosed, the cancer is usually late stage and hard to treat.”

CBS News

“The exact cause of pancreatic cancer is still unknown, but there are known risk factors that increase the risk of developing the disease. Cigarette smoking, a family history of pancreatic cancer or hereditary cancer syndromes, and chronic pancreatitis are some of these factors. The most common form of pancreatic cancer is pancreatic adeno-carcinoma, an exocrine tumor arising from the cells lining the pancreatic duct.”

Columbia Presbyterian Hospital (columbiasurgery.org)

“Colorectal cancer is a cancer that starts in the colon or the rectum. These cancers can also be named colon cancer or rectal cancer, depending on where they start. Colon cancer and rectal cancer are often grouped together because they have many features in common.  Most colorectal cancers start as a growth on the inner lining of the colon or rectum. These growths are called polyps; where some of them can change into cancer.”

American Cancer Society

“Hemophilia is one of the more common inherited types of bleeding disorders. Currently, about 20,000 individuals in the United States have hemophilia. Although hemophilia most commonly occurs in men, it can also occur in women.”

National Hemophilia Foundation

“Von Willebrand disease (VWD) is almost always inherited. “Inherited” means that the disorder is passed from parents to children though genes. You can inherit type 1 or type 2 VWD if only one of your parents passes the gene on to you. You usually inherit type 3 VWD only if both of your parents pass the gene on to you. Your symptoms may be different from your parents’ symptoms.”

NIH-National Heart Lung and Blood Institute

“Most people with MS are diagnosed between the ages of 20 and 50, with at least two to three times more women than men being diagnosed with the disease.”

Multiple Sclerosis Foundation

“MS symptoms are variable and unpredictable. No two people have exactly the same symptoms, and each person’s symptoms can change or fluctuate over time. One person might experience only one or two of the possible symptoms while another person experiences many more.”

National Multiple Sclerosis Society

“Multiple sclerosis (MS) is a potentially disabling disease of the brain and spinal cord (central nervous system).  Signs and symptoms of MS vary widely and depend on the amount of nerve damage and which nerves are affected. Multiple sclerosis signs and symptoms can differ greatly from patient to patient.”

MAYO CLINIC

“The disease can cause long-term difficulties in the kidneys, heart, and nervous system. It can be fatal.”

National Fabry Disease Foundation

Diagnosis of Fabry Disease:

The doctor may suspect Fabry disease if the patient has the associated signs and symptoms. If one of the patient’s relatives is found to have the disease, the physician will order a blood test to measure a-GAL A activity.

Screening females for Fabry disease is less simple. The blood test can be misleading, due to the random nature of X-inactivation. X-inactivation means that the faulty gene may be switched off, so the enzyme a-GAL A won’t be affected.

A chromosomal analysis of the GLA gene is more accurate than a blood test.

If excessive GL-3 buildup is detected, a kidney biopsy may help.

Treatment of Fabry Disease:

Controlling or preventing symptoms and complications is the main aim of treatment.

Episodes of pain are nearly always linked to certain triggers, such as exposure to heat, temperature changes, sun exposure, exercise, and fever. The patient must learn to avoid these pain triggers.

For patients with severe and frequent episodes of pain, the doctor may prescribe an anticonvulsant, such as carbamazepine (Tegretol, Tegretol XR, Equetro, Carbatrol) or diphenylhydantoin (Dilantin). They should be taken daily.

Enzyme replacement therapy (ERT) is a medical treatment that replaces an enzyme which is either absent or deficient in patients. In Fabry disease patients’ cases, the missing enzyme is alpha-galactosidase A (a-GAL A).

In the United States, Fabrazyme is the only ERT treatment approved by the U.S. Food and Drug Administration (FDA) for Fabry disease.

The producers, Genzyme Corporate, write on their website “The lowering of GL-3 suggests that Fabrazyme may improve how Fabry disease affects your body; however a relationship of lower GL-3 to specific signs and symptoms of Fabry disease has not been proven.”

The treatment has passed all clinical trials and its safety and effectiveness have been demonstrated. It is, however, expensive.

The other complications related to Fabry disease, such as skin, heart, kidney, and psychological problems are treated separately as they occur, by specialist doctors. For example, heart symptoms will be treated by a cardiologist.