Blog 3: Quality of Care for Rare Disease Patients

Hello everyone! For those of you just joining in, my name is Jonna Crocker. I am a high school senior who is making a series of blogs for my philosophy class, discussing the injustices for rare disease patients and what we can do to help. This is my third blog, so make sure to read my other 2 blog posts as well to learn more!!

Today, I will be talking about the quality of care that rare disease patients receive. This section will be a mix of perspectives from the doctors, to the patient, to the overall quality of life.

A fact that not many people know about rare diseases is that on average, it takes a patient 8 years and 10 specialists to receive an accurate diagnosis of a rare disease. This means that patients are “frequent flyers” in doctors' offices and emergency departments, and often are searching for a doctor who understands the complexities of their condition. 

Many doctors who do not have experience with rare diseases can actually end up saying the wrong thing, or not building the trust needed with their patients. This can be in so many ways. A lot of times, if your heart rate or blood pressure is high, the nurses and doctors will say that it is because you are nervous about the appointment. While sometimes this may be the case, most rare disease patients are extremely used to appointments and actually have high blood pressure due to their condition, an underlying health issue, when they are experiencing high levels of pain, or even because of the medications they are on. 

This is just one example, but it is a way that the doctor’s office lacks the quality of care for rare patients. Part of the goal of this is to raise awareness, and how would the doctors or nurses ever know there was something wrong with this if it hasn’t been said before? These little pieces of the journey are important to note when dealing with a patient with a complex medical history, or years of hospital treatment.

This is not the only piece of the quality of care. As mentioned in prior posts, most rare diseases do not have a proven treatment, which oftentimes leads to experimentation with medications, procedures, and devices. A doctor of a rare disease patient needs to listen, truly grasp the symptoms, and frequently attempt to treat the symptoms versus the root of the cause. For a lot of patients, the key to success in treatment is not getting rid of the disease or the illness, but instead managing it in a way that relieves most of the symptoms and allows the patient a better quality of life. 

The NIH has actually outlined some of the ways to make a doctor’s visit more beneficial when dealing with rare disease patients. They recommend scheduling longer appointment times for those patients, providing a brochure explaining the complexities of the disease, helping the patient gain confidence and control of their treatment, and allowing the patient to make choices through the course of their treatment plan. A lot of times, rare disease patients can feel that there are no choices and that they are stuck to the next thing. While sometimes that can be the case, having an option and being able to make a choice about how you want to treat your symptoms can give confidence and control in their life, making for a better experience. This person is not someone who you will never see again after 6 months or a year. Most rare disease patients will see their doctors for their entire lives to manage their condition. 

If you are a doctor or medical professional, please keep these things in mind the next time you see a rare disease patient. If you are a friend or family member of someone with a rare disease, make sure they know that there are some options available, and that hope is never lost. There is always another path you can follow, and better days are ahead if you keep working towards them!