Twenty-eight years ago, Rick Kimble was diagnosed with Alpha-1 antitrypsin deficiency. At the time, there was no information about this rare disease in Canada so Rick, and his wife, Lesley, looked to the United States for information. As time went on, the couple found other families struggling with the disease and in 2001, they helped form Alpha-1 Canada to educate patients, caregivers, doctors, nurses, and other healthcare professionals about this disease.
Alpha-1 is an inherited disorder in which persons do not have sufficient levels of alpha-1 antitrypsin (AAT) in the blood while simultaneously having too much of it in the liver. The main function of AAT is to protect the lungs from inflammation so the main symptoms of Alpha-1 are either chronic respiratory problems and/or chronic liver damage.
Since the symptoms are slow to appear and mimic more common ailments, the prevalence of Alpha-1 is not well known. In fact, it may not even be a rare disease. In an exclusive interview with Zeal Access, Lesley Kimble, President and Chairperson of the Alpha-1 Canada said, “It’s really not so much rare as rarely diagnosed.”
Kimble said that a diagnosis of Alpha-1 should be considered in a person if there is a history of COPD in the family, especially if it develops at an early age. “And it is easy to test for Alpha-1. It can be done with a simple blood test,” said Kimble.
Alpha-1 may also be a diagnosis possibility in a person with unexplained liver disease. “If you have cirrhosis of the liver but you are not a heavy drinker, that would be an indication that you should be tested for Alpha-1. Or if you have a history of liver disease in the family.”
Fortunately, groups like Alpha-1 Canada are educating health professionals about this condition.
“Many more Canadians have become aware of Alpha-1, primarily because of the birth of Alpha-1 Canada. Also, it is now in the curriculum. Medical students now learn about it in their first or second year of med school,” said, Kimble, adding, “but we still have a long way to go to connect with family physicians, respirologists, and respiratory therapists. These are often the first to be in contact with a person with suspected COPD.”
When asked how they educate doctors, Kimble said they use a number of ways to ‘get the word out’, including speaking at medical schools, attending respiratory conferences, sending information packets to hospitals and respiratory clinics, and working with the Alpha-1 registry. Kimble said, “we try to connect with as many people, and by whatever means, as possible.”
Kimble also noted that they understand physicians are busy and just want the information they need to better manage their patients. To that end, Alpha-1 Canada recently created a physicians’ component to their website that provides doctors with the information they need as well as the relevant provincial-specific requisitions to test for Alpha-1 (via a link to Grifols Canada).
Is Treatment Available?
“Augmentation therapy (Prolastin-C) is available for some Canadians patients. It’s a 40-minute infusion about once a week,” said Kimble, adding, “It is extremely expensive and only covered in British Columbia, Alberta, and some parts of Manitoba.” Patients in other parts of the Country, unless they have a private drug plan, do not have access to the therapy. “So a good number of our patients do not have access to the drug,” noted Kimble, adding that the cost of the treatment is about $2000 a week (on average, depending on the patient’s weight) so any patients without the proper insurance coverage usually cannot afford the treatment.
Alpha-1 Canada is working with patients in those provinces that do not have Prolastin-C in their formulary, to gain access. “The treatment is not a drug but a blood product. So we are working with Canadian blood services to help patients get access.”
Helping Patients Locally
In addition to advocating for patients at the National and Provincial level, the organization also provides assistance on a 1 on 1 basis. Very often new patients or caregivers need to talk to someone to understand how, or if, their lives will change with a new diagnosis. Alpha-1 Canada offers community support and ‘peer-to-peer’ programs where Alpha-1 families can get together and share experiences. Kimble said each ‘peer-to-peer’ exchange is different. “We often have new patients wanting advice. And we connect them with another patient with similar issues and can give them some sensible tips on how to manage their disease,” explained Kimble adding, “Some patients may use the peer-to-peer’ set up once while others use it a few times throughout the year. Each patient is different.”
In addition, patients in some areas, like those in British Columbia, have a conference call every 2 or 3 months to stay in touch and share tips on how to manage their condition. “There are not a lot of people they can talk to about their condition so it is important that the patients stay in touch,” added Kimble.
As a small advocacy group in a large country, Kimble acknowledges that it is difficult to get all of the patients together. “The cost of this disease is substantial and adding the cost of flying to Toronto from the East or West coast for a conference doesn’t work for everybody,” stated Kimble, but they do have a patient education day in November to coincide with that month being Alpha-1 awareness month. And since many patients cannot make the education day, the organization makes sure that those presentations are available on their website for the entire Alpha-1 population to see.
For more information about Alpha-1, visit alpha1canada.ca