Rare Disease


by Lanmark360


June 11, 2019

After speaking with rare disease patients, you can sometimes develop a sense of guilt. At the end of each communication on my side, I’m able to hang up the phone or click the “X” on a video chat. On their side, it isn’t so simple because when patients end the call, they still have to go on and live with their conditions. Unfortunately, there isn’t a pause button for that.

As the interviewer, you really start to think about how fortunate you are to be on the “healthy side” of the conversation. But when you meet patients like Ilana with such determination to do better for herself, you set aside any feelings of guilt. Instead, you think about how you wouldn’t be able to walk a day in her shoes and suddenly she becomes an inspiration rather than a sad story.

From our discussion, I learned Ilana’s thoughts on pharmaceutical brands, education provided by physicians, patient support, and more. Here’s what she had to say:

Howard: Hi Ilana, It’s very nice to meet you. I appreciate you taking the time to speak with me today. Can you talk about the beginning of your journey, including your road to diagnosis and just after you were diagnosed?

Ilana: Hi Howard, nice to meet you, too. So, here’s how it all began: When I was born in South Florida in 1990, Primary Immunodeficiency Disease (PIDD) was not on the newborn screening panel. Because this is such a rare disease, and because it so easily mimics other conditions, I didn’t receive my official diagnosis until I was 19 years old. At that point there had already been so much damage done to my body that traditional treatments were largely ineffective for me.

My symptoms were a result of my broken immune system. I had severe asthma and allergies, rampant infections, pneumothorax, pneumonia, and it took me 10 times longer to recover from a little cold than it took any of my peers. I received a second diagnosis of dysautonomia when I was 22. This condition was far easier to identify because I was having cardiac problems, blacking out, and my circulation, digestion, and sleeping patterns were all over the place.

When I was first diagnosed with the immune deficiency I thought—This is it! We know what’s wrong and now we can fix it. But just like with my second diagnosis, it’s not that simple to “fix” a chronic illness. It’s a long road.

Howard: What information and resources were made available to you at diagnosis?

Ilana: The day I got my PIDD diagnosis I was basically clinging on. My doctor got the results, and then told me to go to the hospital immediately so I could get my first infusion of IVIG—Intravenous Immunoglobulin. We knew absolutely nothing about this disease, so the first time I got to sit down and research it was during my infusion that day.

We looked at websites like primaryimmune.org and I remember going into a chat room to talk with other patients who were young and sick just like me. I never received any resources/support from my physician outside basic treatment. It wouldn’t be until years later that I actually met/heard other people’s stories about dealing with PIDD.

With dysautonomia, I was a little more tech-savvy at the time and did a lot of my own research online. Again—my doctors had zero resources for me; it was all about finding support on my own.

Howard: How is your life different now as opposed to “pre-diagnosis?”

Ilana: Less terrifying. I feel more in control and I feel like now I can be my best advocate. I had doctors telling me I was crazy all of my life and I just knew what I was experiencing wasn’t normal. But when it was confirmed that I was as sick as I felt I was—it was easier to start demanding more information, better treatments, and asking my doctors to look harder, try harder, and be better. My diagnosis was like the moment I really started to be able to tell myself, “you know what’s happening, this is YOUR body.” I took responsibility and I wasn’t afraid that my issues were going to be labeled psychosomatic. They weren’t, this was a real genetic condition.

Howard: What medications are you on, if any?

Ilana: Atenolol, Florinef, Desipramine, Percocet, Protonix, Zantac, Colace, Plaquenil, Pilocarpine, AMITIZA, Toradol, Promethazine, and Flagyl. And I also take potassium, magnesium, and vitamin C supplements.

Howard: How did you feel about the support you received either from your doctor and/or brand(s) of medication you were put on after you were diagnosed?

Ilana: It was inadequate. The doctor who diagnosed me with PIDD was an infectious disease doctor and a great diagnostic physician, but he made it clear that he would not be able to manage my disease and that I would need to find another doctor closer to me to handle setting up my infusions. The only option he told me that I had was an inpatient infusion of IVIG. It wasn’t until after I’d visited several allergists that the option of at-home subcutaneous treatments was even announced.

I also had no one to explain to me how these treatments would affect me. I had to go online after my first dose and try to figure out why I had a crushing migraine for three days after the infusion. They’re supposed to infuse you while simultaneously giving you hydration. IVIG is extremely dehydrating and I didn’t know that.

With the dysautonomia, I had a little more guidance simply because there was no standard treatment. Ivabradine which is indicated for use in dysautonomia patients wasn’t made available to me just yet. I tried over 20 medications during the first year of my diagnosis to try and straighten out my tachycardia. I finally had a doctor of mine sit in on a phone consult with me with an autonomic expert. Her advice about switching up my medication (Propranolol to Atenolol plus the addition of Florinef) completely changed my life. But I had to search on my own to find her and research the drugs she suggested.

Howard: Do you feel there is personalized support from your doctor and/or brand(s) of medication you are on?

Ilana: I’m on so many medications and no; I don’t feel like I have any support. There was only one situation, one drug that I felt was really adequately monitored and that was XYREM. The dysautonomia caused hypersomnia and symptoms of narcolepsy with me. I failed the first line of medications and then my mother searched out and called XYREM and spoke to them on my behalf. XYREM officials then answered questions from my doctor and when the medication was prescribed for me, they gave me a class to take over the phone on how to take the medication correctly and gave me a hotline to call with questions. It was the most supported I ever felt with a new drug. I wish some of my other medications would offer a similar system of support.

Howard: What support system (if any) is currently offered by the medication you are on?

Ilana: There is zero support for any of my current medications that I’ve been introduced to. I get most of my questions answered through my doctor or patient support groups on Facebook.

Howard: Do you think support could be better?

Ilana: Yes! 100% it could be better. Hotlines… information booklets, FAQs in packaging, even brochures at my doctor’s office. Why doesn’t my doctor ever hand me brochures? I always have to hunt for them on my own in waiting rooms.

Howard: Do you have any needs, as a patient, you feel are not currently being met?

Ilana: Well, I’ll put it this way. During my first few years after my diagnosis I hired a concierge doctor. I kept ending up in the ER for issues that were completely preventable, but I couldn’t get a doctor to prescribe and monitor the treatment for me. I had to hire a doctor who would put in the extra legwork to make sure I got what I needed and who would reach out to other experts when he failed to understand what was wrong and how things could be improved in my situation. I have a lot of questions about side effects and half-life and interactions. I have to rely on my pharmacist quite a lot to answer questions my doctor should have known.

Howard: If on a medication specific to your disease, do you feel there has been involvement by your brand of medication to ensure your maintenance and progression with treatment?

Ilana: Like I mentioned above, XYREM was the only medication that really seemed to have a real system in place for how to use a certain drug. Maybe this is because some of my meds are generic?

Howard: Do you think more could be provided by brand/pharma company in regard to side effects?

Ilana: Yes. I always read the pharmacy packaging on each medication but that is not enough to answer all of my questions. A hotline or a program that could educate my doctor so I could turn to them would be a great improvement.

Howard: Do you feel there is attention paid to your overall health and lifestyle by your medication brand?

Ilana: No. Absolutely not.

Howard: Do you think you are on the best treatment possible? Have you ever experienced barriers to preferred treatment?

Ilana: Definitely not on the best treatment, but then again my conditions are very difficult to treat and they conflict with each other. What I’ve learned is that this disease is progressive. Treatments may work to improve my condition for several months but then it will plateau. I have had insurance coverage issues with Blue Cross and Aetna and have had to submit multiple prior-auths. I also have an absorption problem and my medications would be best digested through my port. But it’s been impossible to get liquid versions covered.

Howard: Are you connected with any patient advocacy groups? Are they specific to your disease?

Ilana: Yes. I volunteer for Dysautonomia International and worked for five years as a contractor for Global Genes. I also publish a column with IG Living magazine.

Howard: How important is being involved in the community to you?

Ilana: Extremely. I really believe that patients are the best resources we have. I turn to the patient community for reviews of doctors, prescriptions, natural and over-the-counter suggestions, diet, and lifestyle tips on living with a chronic disease.

Howard: Do you attend in person events/seminars in your disease category? How do you find out about them? If you attend, do you find them helpful?

Ilana: I have attended the Dysautonomia International Conference for the last two years. I found them through the main dysautonomia Facebook group with over 18,000 members. The event is overwhelmingly useful. There are lectures from the top doctors and it’s a great place to meet other patients.

Howard:< If you were just diagnosed and someone handed you a brochure on your condition, what is the most important thing that you would like to see in it?

Ilana: That I’m not alone and that there are treatment options coming soon.

Howard: What one piece of advice would you give to patients and caregivers of those newly diagnosed?

Ilana: Don’t feel committed to a doctor who doesn’t listen to you. Don’t be afraid to ask for whatever it is that you need to have a better quality of life.

Howard: What one piece of advice would you give to patients and caregivers who have been battling diseases for a few years?

Ilana: The exact same advice as above but I would add that our quality of life needs to be reevaluated all of the time and not just when we’re stable. Stable isn’t a good enough way to live.

Howard: Do you feel you are kept up to date by your medication/pharma company on progress in your disease area in general?

Ilana: Yes, but then I work as a patient advocate so it’s my job to read the news and network with pharma professionals.

Howard: Do you feel that your doctor(s) are being kept informed about the progress made by pharma companies in your disease category?

Ilana: Not at all. I almost always am the one to bring forward research studies and clinical trial results to my doctors, not the other way around.

Howard: Do you think medication-specific websites or patient HUB sites are good? If so, can you name which ones you like?

Ilana: Yes, they’re very useful. WEGO Health is one, but there are a multitude of patient magazines, such as Rare Revolution, IG Living, PainPathways, Neurology Today, that I stay updated on.

Howard: What do you like to see/what’s most helpful on a medication’s website?

Ilana: Patient testimonials.

Howard: Is there anything you’d like to see in testimonials that you don’t think is being addressed?

Ilana: A medication may work very well for a patient—but it may take a while to start working. I’d like to know what the time average was between taking the medication and getting the benefits from it. I would also like to know if they’re safe for pregnancy or if there are any major interactions with other medications.

Howard: Are there any places you wish your medication had a presence where they currently do not?

Ilana: Because there is not really a standard treatment for dysautonomia I’m not sure it makes much sense to advertise it specifically to those patients. Keep in mind; we use a lot of medications that are off-label. It’d be great if there were more information on the benefits of IVIG though.

Howard: What would you, as a patient, like to see from pharma companies to better support patients?

Ilana: Nurse hotlines! Also, a printout that I could take to my doctor with my symptoms on it, versus whether or not the treatment would help those symptoms, and links to any medical studies that have been done with that drug.

Howard: Is there anything else you’d like to share with us?

Ilana: Just that I’m available for follow-up questions and I appreciate that you’re doing your due diligence as far as seeing what patients need most!

According to Dysautonomia International, over 70 million people worldwide live with various forms of this condition. That means there are essentially countless stories just like Ilana’s out there. If reading what she has to say and finding out millions suffer from dysautonomia doesn’t make us realize the patient voice is alive and waiting to be heard, I’m not sure what will.

Thanks for tuning in this week—please keep an eye out for the next chapter of A Patient’s Voice.

Patient Voice
Howard Klein

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