At birth, Don Smith was diagnosed with hemophilia A, a bleeding disorder. At that time, treatment options for the illness were limited. Most patients were not expected to live much beyond their early adulthood. However, over the decades, treatments evolved and developed rapidly and gave Don a chance to live a fulfilling life while still managing his hemophilia effectively. Recently, Patient Worthy spoke with him to learn more.

About Hemophilia

Hemophilia is a genetic disorder which affects the ability of the blood to form clots, a process that is vital for stopping bleeding after a wound is sustained. The severity of symptoms can vary widely. The disorder is caused by a mutation found on the X chromosome. Symptoms include bleeding for a long time after an injury, risk of bleeding in the brain and joints, and easy bruising. Bleeding in the joints can cause permanent damage and brain bleeding can lead to headaches, decreased consciousness, and seizures. There are multiple types of hemophilia, with the most common types being type A and type B, which are distinguished by having deficiencies in different clotting factors. Treatment involves replacing the missing clotting factor. Drugs that thin the blood should be avoided. To learn more about hemophilia, click here.

Don’s Story

In Don’s childhood days, hemophilia was often treated only when a bleed occurred using blood transfusions:

“They would be transfused with blood and isolated, and basically immobile for a period of time until hopefully the bleeding stopped. Treatments then advanced into separating the components of the blood responsible for clotting.” – Don

This approach to management, using clotting factors from donated blood, continued for several decades until the next advancement came in the late 80s:

“Recombinant technology allowed for synthetic factors to be made. All treatments were delivered with intravenous infusion.”

These infusions were administered as much as three or four times a week, placing a substantial burden on the patient. The biggest advancement showed up in just the last few years: emicizumab-kxwh (marketed as Hemlibra) is a bispecific antibody that was first approved in 2017 by the US Food and Drug Administration (FDA). It binds to coagulation factors IX and X, which is normally the function of factor VIII, which is absent or deficient in hemophilia A patients. This therapy is administered subcutaneously and only needs to be dosed once a week, once every 2 weeks, or once a month. It’s also possible for patients to administer this treatment on their own.

“Basically it takes me from having severe hemophilia to dealing with a very mild case…I can basically function like anyone else would in society.”

Don is from Wichita, Kansas, which is known for its aircraft industry, and the university there offered aerospace engineering. He chose this path for his career, partially because it would allow him to have the insurance necessary to cover costly hemophilia treatments. It’s also not a physically demanding field, which is another benefit for someone with a bleeding disorder.

Don began to love his career as an engineer and is currently contracted with NASA.

“My disease has never been an issue, but my employers tend to know about my condition in case an accident were to occur.”

Nevertheless, there were some times when hemophilia was a challenge. Repeated bleeds, particularly in his left ankle, caused arthritis to develop over time. Eventually, surgery was necessary if he was to retain his mobility. Don has some concerns about how his employer and coworkers would handle the situation since he would be out of work for a while.

When he returned, he had to use a knee scooter for some time while he recovered from the operation. Remarkably, when he returned to work, he found that the other technicians had taken it upon themselves to accommodate him:

“They had built little ramps and other access points that allowed me to navigate the wind tunnel without issue…it opened my eyes to how important it is to have good solid people around you.”

Don expressed his gratitude for the scientific advancements that allowed for improvements in his treatment throughout his life and emphasized how essential it is for those with chronic illness to seek community.