Hemophilia: Organizing a Community in Mexico to Face an Ancient Disease
In solidifying PanAmerican’s 2020 planning, the organization reaffirmed its commitment to partnering clinical research with public health to build healthier communities. One of these very communities is located in the state of Hidalgo, next to San Juan del Río, Querétaro. The leadership team joined its medical staff in visiting this community to learn more about its very high incidence of hemophilia and limited resources in addressing this challenging disease.
We approached this community through one of its leaders (Mr. F), a middle-aged man with hemophilia who has dedicated years of his life to advocating for hemophilia patients and to supporting those in his community with the disease. He welcomed us into his house where we met his warm and inviting family. He shared his history with us, which is truly amazing. Mr. F showed us what a kind and brilliant mind can do to organize a community, help others, and fulfill an unmet medical need in the face of limited resources.
Hemophilia is a rare disease (1 of every 5,000 male births) in which the blood does not clot normally because of a deficiency in one of the clotting factors (Type A: factor VIII or Type B: factor IX). It is a genetic disease, almost always occurs in boys, and is passed from mother to son through one of the mother´s genes. The severity of hemophilia is determined by the amount of factor in the blood. Hemophilia can lead to spontaneous bleeding as well as bleeding following injuries or surgery, and patients can bleed to death if they do not receive the appropriate treatment. Treatment has changed over the past decades and currently there is the option for prophylaxis: regular intravenous infusion of the missing blood clotting factor. Yet, some patients without access to healthcare services and resources only get the treatment on demand. For example, after an injury or before a surgery. Without prophylaxis, hemophiliacs are at a higher risk of spontaneous bleeding and general complications from injury. One feared complication of the treatment with infusion of factors is the development of inhibitors, antibodies that interfere with the action of the clotting factor. These inhibitors present in 2-30% of patients, depending of the type of hemophilia and appear during the first 50 infusions of the clotting factor. This problem further complicates the treatment of the disease. Current options for these patients are activated forms of the clotting factors, which are really expensive and unreachable for most of them. In Mexico, there are currently 6,000 hemophiliac patients registered in the Federal Association of Hemophilia.
Mr. F was diagnosed with hemophilia when he was 5 years old. He cut his finger and lost the distal phalange due to severe bleeding. He later lost sight in his left eye after minor trauma, also due to complications from bleeding. He comes from a family of 4 sons. One other brother had hemophilia, but is no longer living due to complications from the disease. Hemophilia has not only impacted Mr. F’s life and that of his family, but also his entire community. There are currently 90 individuals in Mr. F’s small town who suffer from hemophilia (78 with type A and 12 with type B). This is why he began a care network within his community, began educating about hemophilia, and now leads the Querétaro hemophilia association, which is affiliated with the larger hemophilia association throughout Mexico.
Of the 90 individuals with hemophilia, 60% are children under 18 years of age. Most have access to healthcare through some of the social security programs in Mexico. Nonetheless, this care is removed from the community due to its location outside of a major city and, the care does not provide access to incredibly expensive prophylaxis medications.
Mr. F has a bank of the factor for infusions in his house. It is a refrigerator with a log in the door where all the factors are registered with lot numbers and expiring dates. A repository of sorts for not just himself, but also those in the community. Whenever one of the members of his association needs factor on demand due to unexpected injury, they call Mr. F. He becomes their lifeline. In Mr. F’s words, “we have said NO, to death several times”. Unfortunately, they have lost loved individuals too when they cannot deliver the factor in time or when the factor is not enough to stop the bleeding. “Ideally, all patients with hemophilia should be on a prophylaxis regimen, but this is not a reality in our country”, Mr. F explains.
Mr. F receives the factor from donations from various associations, hospitals, companies and even from other patients with hemophilia. Due to the incredible importance of medication to treat hemophilia, Mr. F spends a lot of his time spreading the voice about the disease and community needs to raise awareness, but also to receive more donations. He also organizes educational workshops for his association. For example, they have taught children as little as 10 years old to infuse themselves with the factor. They also train the parents of infants with the disease, so that they can take care of them on a daily basis to the extent possible with limited resources.
Hemophilia is not the only bleeding disorder. In fact, Von Willebrand disease, a genetic disorder caused by missing or defective von Willebrand factor (a clotting protein) is the most common bleeding disorder. It affects 1% of the total population, is carried on chromosome 12 and occurs equally in men and women. The most common type of the disease presents with mild symptoms like frequent nosebleeds, easy bruising or excessive bleeding after invasive procedures. Mr. F told us he wants to focus on searching and identifying these patients and making them part of his Association, as these patients also need specific treatments.
After our meeting with Mr. F we spent the afternoon at the local baseball field to interact with children and teenagers from the community. Baseball is one of the town’s favorite activities and they have a very good team! With the pickup game underway, part of the PanAmerican team joined in the game while PanAmerican physicians established a mobile medical screening and education station. There are a number of reasons why PanAmerican utilizes these stations in communities like Mr. F’s. While a community may be aware of one condition, like hemophilia, they may not know of other conditions, like diabetes and hypertension. The screenings help diagnose and are coupled with education and physician referrals for follow up care. For more rare conditions, PanAmerican is able to recommend and provide logistical support for clinical trials that provide access to medication where no other treatment options exist.
Finally, armed with information from these screenings and health education events, PanAmerican is able to advocate on behalf of communities and, where possible, direct clinical trials to these communities for products that will ultimately benefit their populations. For Mr. F’s community, clinical trials for new factor products may ultimately create more affordable medication. This may enable prophylaxis administration rather than on-demand treatment, which is very precarious for any hemophiliac patient, no matter the severity of their disease.
After the baseball game we went back to Mr. F’s home where his lovely wife was waiting for us with delicious “Enmoladas” (tortillas filled with chicken and covered with “mole”) and puff pastry filled with the same. “Mole” is a traditional Mexican dish and comes from a family of sauces prepared throughout the Oaxaca and Puebla regions of Mexico. The sauce is characterized by a complex, layered flavor derived from intricate blends of dried chilis, spices, fruits, seasonings, cocoa and seeds. After enjoying this fantastic meal we said goodbye to Mr. F and his family.
During our ride back to our corporate office we couldn’t feel more thankful at having shared this day with Mr. F and his community. A need exists in this group of hemophilia patients for better, simpler and more accessible treatment options. We agreed too with Mr. F. that we need to spread the word about his association and its patients, the medical gap to be filled, and his desire to support clinical research that will benefit the next generation in his community.
Currently there are more than 15 products in the pipeline for hemophilia. These include Factor concentrates, By-passing therapies for patients with inhibitors, Non-factor coagulation products and even Gene therapies. Goals for this disease are more potent and extended half-life products, so therapies with novel mechanisms of action are being developed. In countries like Mexico where health care and treatment options are very limited, research can fulfill one of the needs of these communities.
With the leadership team now dispersed back through Latin America and in the U.S., PanAmerican’s job in 2020 has only begun. Mr. F’s community is just one in which PanAmerican seeks to help. This is what makes us unique. We understand clinical research, but we also understand what it takes for communities and individuals to participate in these trials. And, it is not just about the trial. It is about building healthier communities and a network of patients and physicians who will help lead those future trials in Latin America, which are so vital to the development of new innovative drugs and vaccines.
