Health
Sickle cell disease and newborn screening
Transscript:
Ifeyinwa Osunkwo, MD: It’s a very good segue for Dr. Shah. Can you tell us a little bit about newborn screening? Knowing that you have sickle cell disease is a good step, but knowing that your child has sickle cell disease is the first step. Connecting them to comprehensive care is the second step. Once completed, the third step is what is the role of the primary care provider in sickle cell disease? I would like Dr. Shah to explain about newborn screening, how the system works, and the benefits of the system.
Nirmish Ramesh Shah, MD:I’m really lucky because newborn screening is mandatory throughout the United States. All babies are screened for many things, but they contain sickle cells. Often you go to a pediatrician after giving birth to a baby. They will look at the results and say, “It looks like you’ve picked up sickle cell disease.” Then a family comes to us who are so scared that we don’t understand what sickle cells are. They are looking at Google and trying to understand what this means for their babies. Our job is to keep things in mind and go through the entire conversation about what sickle cells are, what they mean, and how all children and patients are different.
Not long ago, it was very important that we made the big decision to screen all babies.Doctor [Wally] Smith raised this, but it’s exactly correct. In the 1970s, only 50% of children survived to the age of 18, but now it is over 95%. In the conversation raised, I would like to emphasize that the way we talk about death is to talk about how we are progressing. The way to make progress is to continue much of what we are trying to do. Try research, get patients to come to health visits, and get them to understand how to take advantage of these disease modifiers. But that will require us to keep track of the patient carefully.
How can I get my patient to take medicine? As you said, it’s hard for teenagers to get them to do it. I got it in sight. Patients taking hydroxyurea, for which we have the most data, live longer. There is data that the mortality rate is excellent. I say it hanging in front of the patient. “I know you don’t want to take hand medicine, but that’s one thing I know is related to long-lived patients. When you put it out there, it’s it The outlook: Certainly mortality has improved over the years. We want to continue that trend, but your role is to comply with what we want from you. It’s a big problem that we have newborn screening because it’s done in. We can treat patients early in the clinic, so talk about them and start this journey together early. can do.
Ifeyinwa Osunkwo, MD: As we are blessed with the United States and the United Kingdom, there are many initiatives around the world to conduct newborn screening in other resource-poor countries. However, newborn screening is not done in many countries, so the first step is to make sure you are doing newborn screening and then connect to the provider who got the design shot and they will be yours. It’s about taking care and working together as a team to investigate. What are your goals, and to make sure we are helping you reach those goals.
I edited the transcript for clarity.
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