A Patient's Journey With Sickle Cell Disease

Neil B. Minkoff, MD: I wanted to come back to the discussion we were just having, I didn’t want to leave that part out. You started to describe how there is a patient journey, which is accommodation of the patient’s symptoms and their diagnosis, then the complications, the clinical path they go through. And that includes the psychosocial parts of it. Can we have a conversation here based on what you see diagnostically in terms of presentation, age, and then some of the ways that the patients traverse the system?

Ahmar U. Zaidi, MD: Sure. From the clinical side, the patient’s journey for me starts with the newborn screen coming back positive and that first visit with a parent where we discuss what sickle cell disease is. Oftentimes we’re discussing this with parents who have never seen sickle cell disease. They know they have the trait, but they’ve never actually seen the disease.

That’s where the journey starts for us, and in pediatrics we’re fortunate where we do have some ability to administer preventative medicine in the form of antibiotics, in the form of vaccinations. We’re very lucky to have parents as clinical team members to keep a close eye on these individuals. And it makes a very big difference to have a parent who’s involved and present regarding the outcome that a child is going to have. The patient journey of course includes the setting at home. Really, I’m going to back up a little bit here and I’m going to say that oftentimes more important than your genetic code, unfortunately, with sickle cell disease is your zip code. And that is a tragedy in the United States of America where just because you were born in an area where you don’t have access to care, you are going to have a poor outcome, which is quite unfortunate, especially in a disease as complicated and complex as sickle cell disease.

We get to watch these children go through early life and fortunately, the majority of them don’t have terrible outcomes initially, but we do see the kids who have strokes and that affects their lives, ranging from a silent stroke to patients who I have who are paraplegic and unable to speak. So, of course each individual has a different journey, but every journey comes with its unique challenges.

John C. Stancil, RPh: I’ll add that especially for a child starting out, there’s a fear and anxiety of what lies ahead for that child, even from a parent. As that child starts to get older they are not able to participate in the same activities, or sports, or other school events that may go on, especially if there’s other complications, either infection or a stroke that occurs as that child begins to age.

Maria Lopes, MD, MS: I think another opportunity certainly in the realm of screening is genetic counseling, and prenatally, to be able to offer an amniocentesis. So preparing for what’s to come, hopefully getting into the system in terms of access, and understanding what’s going to be needed as their child grows in their lifelong journey.

Neil B. Minkoff, MD: And if you don’t have children, where is the initial starting point? Say they weren’t screened, or something got missed or what have you, at what age do you start to see symptoms, and if they aren’t picked up initially on the screening, how does that change their journey? What should trigger testing? What should parents look for?

Ahmar U. Zaidi, MD: The range of symptoms that you see is quite variable, but we know that our most severe patients generally present in the first year of life, generally between 6 months and 12 months, with what we call dactylitis most frequently, which is swelling and vaso-occlusion, pain in the hands and feet. Those individuals become high priority for clinicians because we’ve known from anecdotal and historical data that those are the children who will have a higher risk disease.

If you’re fortunate enough to make it through your first year of life without having these issues, in general, we don’t start seeing issues until generally between 6 and 10 years old. I would say that is really when patients become aware of pain and how the pain that they’re feeling might not be something that they should be feeling. And that would be the most common presentation, someone who comes in to your emergency department or to your office with pain, possibly an enlarged spleen, and potentially difficulty breathing. These would be the classic ways that a patient would present had you not known that they had sickle cell disease.