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Challenges in PH: Patient Perspective
The Patient Perspective on Navigating the Path of Rare Kidney Disease: Challenges, Impact, and Hope of New Therapies

Released: March 14, 2024

Expiration: March 14, 2025

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Key Takeaways
  • Connecting patients with diagnosed or suspected primary hyperoxaluria (PH) with organizations such as the Oxalosis and Hyperoxaluria Foundation is key to ensuring they receive both appropriate treatment and the support they require to thrive.
  • Enrollment in clinical trials can be instrumental in achieving stability for patients who have rare conditions, such as PH.
  • Shared decision-making and engaging patients in discussions about their care is just as important in pediatric and adolescent patients as it is in adult patients.

Primary hyperoxaluria (PH) is a chronic, rare disease that can lead to recurrent nephrolithiasis, nephrocalcinosis, and end-stage renal disease. PH is often overlooked because of its rarity, resulting in delayed diagnosis, and treatment options are lacking—but recent advances in recognition and treatment bring promise to patients. George Tidmore was diagnosed with PH type 1 (PH1) at a young age and shares his experiences and observations herein.

A Patient’s Diagnostic Journey With Primary Hyperoxaluria

George Tidmore:
I was diagnosed with PH1 when I was 8 years old. Even though I was only 8, I remember my initial kidney stone events pretty well because they were so unusual. I remember feeling pain in my sides on a car ride home after visiting family. We stopped at a local pharmacy to get some pain meds, which did not help at all, though the pain eventually went away. Later, on New Year's Eve, I passed a stone when we were at the beach, and I remember going to the hospital. Healthcare professionals (HCPs) there asked if I had used the bathroom in a while and I said “No, I haven't.” After using the bathroom, the pain went away, but we still did not realize it was a kidney stone at that point. A few months later, I had a similar event and went to the hospital, where I had my first stone surgically removed. Then I started to get more, and more, and more.

I remember undergoing a string of procedures before getting a diagnosis. In my memory, I was not very scared because I was lucky enough to be surrounded by very caring people who I trusted; my parents were there with me the entire way and all the doctors were so kind to me. I also had no understanding of what this could lead to. I had no idea that this could be a lifelong issue, which I think was probably a good thing at that age.

Luckily, I was connected with the Mayo Clinic in Rochester, Minnesota, and they were able to get me diagnosed after a couple months and several kidney stone episodes.

Experience With the Healthcare Team

George Tidmore:
I am from a rural area in the United States, and before connecting with the Mayo Clinic I had a few negative experiences with the healthcare team. At times, HCPs would only speak to my mother, not make eye contact with me during the discussion, or make an effort to explain things to me directly, which left me feeling very confused.

My parents later mentioned that the healthcare team did not trust in my ability to drink the required amount of water, which I ended up successfully doing for many years. Thankfully, my experience was much different at the Mayo Clinic.

John C. Lieske, MD:
In some younger children, getting them to meet the necessary fluid intake goals can be a big challenge in managing PH. Sometimes, a more invasive procedure, such as a gastrostomy tube placement, is necessary to ensure adequate water intake is achieved. However, I think now that the healthcare community understands more about the different types of PH, it is easier to interpret tests and predict if patients have a PH type that is more likely to be responsive to therapy, such as RNAi treatment. It is not any harder to use one of these newer RNAi agents in children than in adults, so this is a great step towards ensuring treatment is well tolerated and less burdensome or invasive.

George Tidmore:
When I traveled to the Mayo Clinic, they were finally able to diagnose me. I remember being greatly impacted by my doctor there, who I saw for many years after she diagnosed me, before she later retired. She prioritized conversing with me and made a point of helping me understand. I remember feeling inspired by her and seeing her as a role model.

John C. Lieske, MD:
Unfortunately, the time it takes to receive a PH diagnosis can really depend on where the patient lives and who their healthcare providers are. For rare conditions like PH, it is really important for patients and their caregivers to be their own advocates. If there is any question about PH and its diagnosis, I recommend providers reach out to the Oxalosis and Hyperoxaluria Foundation (OHF). This patient advocacy group gets a lot of referrals for patients that either have or are suspected to have this diagnosis. HCPs can help get patients in contact with one of the tertiary centers and providers that knows a lot about this disease. I think a lot of times that is the quickest way for people and providers to get to the right answer.

Embracing a Community

George Tidmore:
Immediately after I was diagnosed, the HCPs at the Mayo Clinic connected me with the OHF, which continues to be a huge source of support and community for me on this journey with my disease. The OHF is connected to the Mayo Clinic since they are the leading institution for this rare disease.

My first interface with OHF was through an email buddy who, at the time, was training to become a nephrologist. That relationship had a really big impact on how I saw this disease and myself because I had a role model in this person who was older than I was and doing this really cool thing in studying to be a nephrologist to help people like us. He represented the ideal of success and showed me that this disease could be more than just an isolating experience, or something to cause my parents worry. It could be a launching pad for career interests and a way to bridge my own interests with my personal experiences.

Connecting with organizations like OHF has introduced me to a much wider community. In addition to OHF, I have been involved with a group called Young Adult Rare Representatives (YARR), which is part of the EveryLife Foundation for Rare Diseases. Engaging with these organizations means connecting with other individuals with rare diseases, researchers, and scientists. A few years after my diagnosis, I went to my first international OHF meeting and got to meet other children with PH1. Meeting researchers and scientists was a way to color my experience with something fun and exciting. This helped me from an early age to see the positive potential of having this disease, to use it as a way to learn about myself and about the world. My experience working with these organizations has shown me that systems (eg, healthcare delivery, policy, and insurance) overall are not built for people on the margins in society, or for people whose diseases are less well-known among the wider population.

Living With PH

George Tidmore:
A day in the life as a patient with PH1 involves taking a lot of medications, mostly vitamins and over-the-counter drugs. I drink about 4 liters of fluid a day, which is probably the biggest challenge of this disease; just meeting the daily fluid intake goals every day can be difficult.

Fortunately, there are now 2 FDA-approved drugs for this disease. I was in a clinical trial for one for several years. I am currently in the post-trial period and still receiving the drug, which has had a huge impact on my health. Although there is still a lot of room for improvement with my condition, I am very lucky that I have been stable for quite some time and I have not had any major kidney stone events since being on this clinical trial drug.

I know other people who have needed very different kinds of care because of their genetics, how this disease has impacted their life, or the timing of their diagnosis. I know some people who have had kidney and kidney-liver transplants. I think I am fortunate to be somewhere toward the milder end of the PH1 spectrum since I am responsive to the medications.

Experiences With PH Medication and Clinical Trial Participation

George Tidmore:
Being able to be in this clinical trial was instrumental in helping me remain stable. It is hard to imagine what my trajectory would have been without it. For patients with rare diseases specifically, achieving stability can be very difficult because there are not that many treatment options. Sometimes, clinical trials are the only option available.

I participated in the trial for 6 years, and as I live quite far away from the Mayo Clinic, I had to leave school every month to travel to the study site. Even now, post-trial, the drug has to be administered by someone registered with the trial. This can create logistical problems to accessing therapy, but fortunately, the drug I am on is now injected only every 3 months. Aside from some burning sensations from the injection solution, I have not had any adverse effects.

Burdens and Future Concerns

George Tidmore:
The costs of managing a rare disease, especially one that requires many over-the-counter medications, can really add up. For example, I was previously able to get my vitamin B6 via prescription so it was covered on my insurance, but my pharmacy recently changed so that I can only get it over the counter. If situations like this continue to happen, that financial burden could become difficult for patients and families dealing with rare diseases.

There is also a real concern about having access to my therapy once this 1- or 2-year post-trial period is complete. I am unsure whether my insurance will cover it, and the market prices for approved therapies are prohibitively high for most people. I worry it is just a matter of time before a potential fight with insurance.

Message to HCPs

George Tidmore:
Overall, my providers have played a key role in my care in many ways. It is really important for providers to remember to engage patients of all ages in their care and to center them in discussions. Providers are also key in advocating for patients and connecting them with clinical trials and organizations. The organizations may have knowledge that some providers do not, especially if they are not an expert in the condition. I know for a lot of patients with my disease, connecting with the OHF was instrumental in finding the kind of care they need.

Your Thoughts?
In your clinical practice, what have your patients with PH1 shared about their experiences? Join the conversation by answering the polling question and posting a comment below.

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