The Road to Diagnosis

IG Living Advocate Podcast Episode 7

Published: Nov. 30, 2022 @ 10AM

Listen on these podcast directories:

Listen on Apple PodcastsListen on Google PodcastsListen on SpotifyListen on CastboxListen on BuzzsproutWatch on YouTube

Listen to the episode The Road to Diagnosis hosted by patient advocate Abbie Cornett.

Want information and notifications about upcoming podcast episodes?
Subscribe to IG Living Magazine.

If you have any concerns, comments or questions,
please email or call (800) 843-7477 ext. 1366.

Episode 7 Transcript

The Road to Diagnosis: It Begins with Your Primary Care Physician

Hello, and thank you for joining us today. My name is Abbie Cornett, and I am the patient advocate for IG Living magazine. This podcast is brought to you by IG Living magazine to give readers an opportunity to hear from healthcare experts on topics important to them. In this episode, we will be talking about one of the most important steps in patients' journeys to diagnosis: their primary care doctor!

Today, we have guest speaker Dr. Lisa Allen-Khalil. Dr. Khalil received her medical degree from the University of Nebraska College of Medicine. She's a board-certified internal medicine doctor. Dr. Khalil has been in private practice for more than 30 years.

Abbie: Good morning, Dr. Khalil. Thank you for joining us today. Dr. Khalil, as you know, many patients with rare diseases experience a diagnostic delay. In fact, a recent study found that one of the most important factors related to the prolonged undiagnosed period is the lack of suspicion of rare diseases by patients and their medical professionals. Doctors frequently are taught, "When you hear hoofbeats, think horses, not zebras," meaning a doctor should first think about what is a more common and potentially more likely diagnosis. That is why patients with rare diseases frequently refer to themselves as zebras and use the zebra pattern for their ribbon. Unfortunately, though, if a clinician isn't familiar with rare conditions, they may spend too much time looking for the proverbial horse and can miss the individual zebra, which can lead to significant delays in diagnosis.

The diagnostic delay for a rare disease can vary from months to decades. The average time for the accurate diagnosis of a rare disease in the United States is between four to five years. This extended time to diagnosis is one of the greatest challenges affecting the health survival and well-being of people with rare diseases. Also, a delay in diagnosis can lead to inappropriate disease management and disease progression.

Dr. Khalil, I asked you to be my guest speaker today because you have more than 30 years of experience on the frontline of patient care. And I know from our past conversations, you are one of the primary care doctors who know when to look for zebras. Can you please tell me what you look for when deciding whether a patient may have a rare condition?

Dr. Khalil: As an internist, I'm used to taking care of patients who have multiple medical problems. I'm kind of like an expert in complex patients, and being in practice for 30 years, I've come across an occasional rare disease or two. When a patient presents to me with a constellation of different complaints, signs and symptoms, the first thing we try to do is obtain a full history, perform a physical exam and then proceed with obtaining any labs or imaging as indicated by their presentation and their complaints. Once that is done, a lot of times, their diagnosis is still elusive, so then I start delving into family history — especially if this condition has occurred in multiple family members. That'll help guide us to the diagnosis.

Now, if they're presenting early in their disease process, sometimes it's still a little elusive. But, like you mentioned earlier, having that high index of suspicion helps lead us to the diagnosis of the condition. One thing I want to mention, though, when it comes to delay in diagnosis is that in some cases, there are also issues with the patient being uninsured or underinsured or the patient living in a geographic location where they're not close to a tertiary referral center. Because sometimes these patients need to be referred to a big research center or university setting. And also, the patient doesn't realize how important it is to get checked out sooner rather than later when they become sick. Now, I'm very fortunate. Even though I practice in a rural community, I am close to the University of South Florida and the University of Florida, and in many cases, I can refer these patients for further in-depth testing. It's not unusual that a new patient will come to me early in their symptoms, and the diagnosis still can be elusive. But if they come in later and I have the access to previous workup, then that helps me toward the diagnosis.

Abbie: You know, Dr. Khalil, you brought up something so important. Actually, two points. The first is a lack of insurance or underinsurance. I frequently have patients contact me about what insurance plan they should pick. And, particularly if they have multiple conditions or chronic conditions, I always say, "You're better to spend money on the better insurance plan, because at the back end, it's going to save you so much money." The other point, and I hadn't really thought about it in regard to this call, but I know in a number of states, a lot of my patients sometimes travel an entire day to get treatment because they are eight to 10 hours away from a major medical facility. I have one patient in Australia who it actually takes them almost two full days to get to their doctor. There are only a couple of centers in the entire country that treat their disease state.

Now that we know what you look for, can you give us an example of a case you've had and how you've handled it? You don't need to go into any in-depth detail. Just discuss some of the symptoms and how you determined that they had a rare disease and what the outcome of that was.

Dr. Khalil: Absolutely. One case that comes to mind is I had an elderly woman who I've been taking care of for a little while who complained of numbness in her feet. She didn't initially come to me with that complaint until she started noticing that it was progressing up to her legs, and it was starting to affect her ability to go about her activities of daily living. So when she presented with the complaint, I did an exam and a workup, and I ruled out some basic things like diabetes, vitamin deficiency and thyroid problems. I did an MRI of her back to make sure there wasn't any significant nerve impingement. She had a little bit of arthritis, but nothing that would explain what was going on. So, after that, I sent her to my local neurologist and we had some nerve testing done, and she was diagnosed with a peripheral neuropathy.

We couldn't explain why this was going on, so at that point, we decided that it would be best to send her to the University of South Florida neurology group to have more extensive testing done. And, lo and behold, she was diagnosed with chronic inflammatory demyelinating peripheral neuropathy. At that point, she was started on intravenous immune globulin (IVIG). What was really interesting is, when she came for her follow-up fairly recently, she told me that she was no longer having to go all the way down there to get her IVIG; she was able to give herself subcutaneous IG (SCIG) at home. So that was really enlightening, and I see that this is becoming a trend for some disease processes. Patients can continue their therapy in their own home and not have to travel so far. SCIG has been a blessing for so many patients. But one of the biggest obstacles we still face with SCIG is insurance approval at home, depending on the disease state.

Abbie: Thank you for discussing that case with us Dr. Khalil. Once a patient has been diagnosed with a rare disease, it's probably one of the most frightening times of their life. And when they see the specialist for the first time, they frequently leave the visit with more questions than they had when they went in. So they returned to their primary care doctor to answer some of those questions. How do you help them navigate their diagnosis?

Dr. Khalil: For example, in the case that we previously discussed, it was probably more frightening for her because, at her advanced age, she was still highly functional and able to go about and do the things she wanted to do. Just the thought of not being able to do that anymore was very disconcerting for her. So, the fact that once we found out what was going on and that there was a treatment option allayed a lot of her fears. Patients can sometimes wonder if they're going crazy. Knowing what the name of their condition is and the fact that they can be offered something that can help them feel better was even better than not really knowing if they didn't have a treatment option or even that there was no cure. So, at the end of the day, having a diagnosis and knowing that there's something that could be done to help them helps allay their fears a lot.

Abbie: You touched on something that our patients frequently face before diagnosis. They feel like they're hypochondriacs. They've been told they're not really sick. They've been referred to psychiatrists and they have trouble with employment because the doctors can't diagnose it. There is a lot of chronic depression and anxiety that goes along with chronic illness.

To build on that last question, can you describe your role with their care after diagnosis and how you directly work with their specialist in the management of their disease?

Dr. Khalil: That's such an important component a lot of times. Patients almost put their doctors in silos. They have their specialists, and then they have their primary care doctor. And a lot of times, the communication isn't what it should be. One thing that I tell my patients when they come in for their follow-up is, once we have the diagnosis and they have been started on their treatment, it's important for them to be compliant with their appointments with their specialists and take the medications as recommended. And I let them know that I am available as their primary care specialist, but they still do need to follow up with me. And I encourage them to let their specialists know to keep me in the loop and make sure that they send me the consultative notes so that if there are any concerns or questions when they come in for their follow-ups, I have that information available and I can answer any questions regarding the potential side effects or the rationale of why that they were opted for a kind of treatment. I also encourage them that they still need to manage their other disease processes or just do their healthcare maintenance because, sometimes, the medications that they're given or the treatment that they're given may have other potential interactions with some of the other medications they might be taking. It's my job as their primary doctor to take care of the whole person, not just the rare disease, and to make sure that the rest of them is doing OK.

Abbie: That's such a wonderful point because a lot of times the specialists don't look at the patient as a whole, which is a very important component to their care. Dr. Khalil, it's been such a pleasure to have you as our guest today. I want to thank you again for joining us to discuss the role of an internal medicine specialist on the road to diagnosing a rare disease.

Listeners, thank you again for joining us today. Additional information regarding this podcast can be found on our website at If listeners have a question that was not answered, please contact me at Look for the next IG Living Advocate podcast announcement on our website for the opportunity to submit your questions.

IG Living Advocate is a copyright production of IG Living magazine published by FFF Enterprises. It is the only magazine for the immune globulin community comprised of patients who suffer from chronic illness and their caregivers.