According to a recent article, a Vietnam veteran is spreading awareness about the struggles of accessibility for treatments for his rare genetic disease alpha-1 antitrypsin deficiency (A1AD).

Alpha-1 Antitrypsin Deficiency (A1AD)

Alpha-1 antitrypsin deficiency (A1AD) is an inherited condition characterized by low blood levels of the protein alpha-1 antitrypsin (A1AT). The deficiency of this protein can lead to lung and liver disease as well as skin problems. A1AD is estimated to be found in 1 in 1,500-3,000 individuals of European ancestry. This condition is less prevalent in Asian and Black populations.

Symptoms:

The onset and severity of the symptoms of A1AD vary by the individual and areas affected. This condition can cause disease and damage in the lungs, liver, and skin. In terms of the lungs, the symptoms of A1AD lung disease usually appear between the ages of 20 and 50. These symptoms include:

• Shortness of breath
• Wheezing
• Activity intolerance and fatigue
• Repeated respiratory infections
• Unintentional weight loss
• Rapid heart rate upon standing
• Development of the advanced lung disease known as emphysema. This advanced disease leads to difficulty breathing, harsh/hacking cough and barrel-shaped chest.

When it comes to the liver, approximately 10 percent of infants and 15 percent of adults with A1AD develop liver disease. These symptoms include:

• Swollen/distended abdomen
• Yellowing of skin and eyes (jaundice)
• Elevated liver enzymes
• Dark urine
• Swollen hands and feet
• Chronic itching
• Development of cirrhosis
• Increased risk of liver cancer

Lastly are the effects on the skin. A rare symptom of A1AD is the skin condition known as panniculitis. Symptoms of this include:

• Hard, painful lumps under the skin
• Skin lesions

Sylvan Gerritsma’s Story

Sylvan Gerritsma is a 75-year-old resident at St. Catharine’s who deals with A1AD. The progressive genetic disease was worsened by the Agent Orange that he was exposed to in Vietnam. As a retired military intelligence officer, he has access to health insurance that allows him to travel for his treatments. Every week he goes to Buffalo for replacement/augmentation therapy that takes plasma from healthy blood donors to increase his levels of alpha-1. This therapy helps the symptoms that occur with A1AD, thus reducing the need for patients to need lung transplants.

The Fight for Accessibility

This kind of therapy is not covered by insurance in all of Canada, since it is not on the Canadian Blood Services formulary. Angela Diano, the executive director of the advocacy group Access for Alphas, has been working to fix this issue. In 2017, she presented to the Canadian Blood Services board of directors. Despite the board members agreeing with her, she ran into the issue of needing to the provinces and territories to also agree. To add to the issue, the treatment had previously been approved in British Colombia, meaning that it cannot be a part of the Canada Blood Services since it’s already in the healthcare system (even though the treatment is not available in the whole country).

Due to this complication, many of Diano’s patients have left their lives to live in British Colombia because they are desperate for the help.

Gerritsma and Diano are both hoping that the treatment will become covered by government insurance. This would mean that A1AD patients will not needlessly end up on the lung transplant list.

While Gerritsma’s symptoms are better due to his availability to treatment, he still is operating at 50 percent lung capacity as a 75-year-old. In Canada around 1 in every 5,000 people suffers from A1AD, so it is vitally important that this treatment becomes more accessible to everyone.