Q: How did you and your husband react to his diagnosis as an XLA patient?
A: First, we were relieved to learn that he did have XLA, and that there was a treatment, immunoglobulin replacement therapy (IG therapy), although in those days it was administered intramuscularly and very painful. Although it was devastating to be told that our son had an immunodeficiency, we knew his diagnosis was good news considering the alternative. We knew we had to learn to be parents who both protected him, while at the same time ensuring he would lead as normal a life as possible, and not be defined by his diagnosis. By the time he was three, John was attending nursery school. In the meantime, I had been doing research on patient and family educational information, and was distressed to learn there were no materials on PID, nor was there a patient advocacy organization in the United States. In 1980, I started to talk with John’s immunologist, Dr Jerry Winkelstein, met people from other patient advocacy organizations, and started efforts to create a national patient organization for all PIDs. In December 1980, my husband and I were joined by Dr Winkelstein and two other parents, and founded the Immune Deficiency Foundation (IDF) as the national patient advocacy organization for PID in the United States. Although we couldn’t do the medical research to improve our son’s condition, we felt we could help him by creating an organization that would help patients and families through education, advocacy and research. I’ve been very gratified to look back and see the many patient educational materials and programs, advocacy efforts and research that have been developed by IDF.
Q: What are in your view the main challenges ahead for the PID community?
A: PID represents a group of rare diseases, many of which require expensive therapies. We are fortunate that there have been many recent improvements in the understanding, diagnosis and treatment of these disorders. Newborn screening for SCID is saving lives in some countries, but not all. Bone marrow transplantation and gene therapy are improving dramatically and becoming increasingly effective for more PID diagnoses. Gene editing and other new and improved therapies offer hope for PIDs over time. And, IG therapy continues to improve and offer new forms of administration. At the same time, governments have to deal with increased demands for finite resources. Many PIDs are difficult to diagnose, not enough primary care clinicians are aware of them, and most people have never heard of them. Even in developed countries, access to specialists and the best therapies can be problematic. In many developing countries, the specialists are few and far between, and support for therapies can be non-existent. In such a scenario, the existence of strong national patient organizations and a strong IPOPI advocating for improved diagnosis and treatment is essential. The PID community cannot become complacent, either nationally or internationally, because without their advocacy, PID patients and families are at risk of not being a priority. Continued education of physicians, governments, patients, families and the general public about the importance of diagnosis and treatment for these rare diseases is essential.
The good news is that more people are being diagnosed worldwide with antibody deficiencies, many of whom can lead productive lives with appropriate therapy. At the same time, IG therapy is increasingly being used for other disorders. There is a real concern that the plasma supply will not be sufficient to meet the increased demand. The USA, as an example, supplies the majority of the world’s source plasma, but to cover increasing demand, all countries need to prioritize plasma availability and IG therapy for PID.