Rare Community Profiles

Rare Community Profiles is a new Patient Worthy article series of long-form interviews featuring various stakeholders in the rare disease community, such as patients, their families, advocates, scientists, and more.

Casting a Light on the Intersection of Mental Health and Chronic Illness: How Elle’s IgAN Journey Inspired Her to Help Others

Elle loves life. To live means to go out and experience everything that there is to offer. To drive through the thick green forests of the West Coast. To talk to people she may have never met otherwise, making connections wherever she goes. Elle lives this dream every day with her husband as they explore the United States in their converted school bus, which they have transformed into an innovative mobile living space.

But for Elle, her journey to find peace and happiness regardless of her surroundings (or situation!) began on a much bumpier road after she was diagnosed with IgA nephropathy, or IgAN, in 2009. Her diagnosis left her with gnawing questions and concerns about her future.

In learning how to combat the negative thoughts and fight through the mental health burden that so many people with chronic illness face, Elle came out stronger and more assured than ever. Through sharing her story and experiences, she hopes to remind others not just that they’re not alone, but that sometimes it’s okay to not be okay.

What is IgA Nephropathy (IgAN)?

Also known as Berger’s disease, IgA nephropathy is a chronic kidney disease that occurs when a protein called IgA accumulates in the kidneys. Normally, IgA helps protect the body against “foreign invaders.” But in IgAN, this buildup causes the kidneys to become inflamed. The glomeruli, which filter waste from the kidneys, become damaged, causing the kidneys to leak blood and protein into the urine. Doctors are still determining the underlying cause of IgAN, but it often appears after a viral upper respiratory or gastrointestinal tract infection.

Symptoms of IgAN typically manifest between early teens and 30s. This condition is 2x more common in men than women. Symptoms can include:

• Proteinuria (excess protein levels in the urine)
• Fatigue and general weakness
• Tea- or rust-colored urine
• Hematuria (blood in the urine)
• High blood pressure
• Pain in the sides below the ribs
• Swollen hands and feet
• Loin pain
• Kidney failure

While there is no cure for IgAN, there are medications that can help to manage this condition.

Elle’s Story

In 2009, Elle was living a healthy and—for all intents and purposes—relatively normal life. She loved getting out of the house and staying active; after all, there is still so much of the world she had yet to discover!

But over the course of a month, her health suddenly took a downward spiral. At the end of the month, she ended up in the emergency room. Doctors ran a multitude of tests which determined that Elle’s kidneys had failed; she needed to immediately begin dialysis. She was also diagnosed with IgAN. Elle was kind of surprised at how casually the doctors offered the diagnosis. How little information she received.

So she began diving into research, discovering information on her own. As she read the list of symptoms, and began to reflect on her experience, she was shocked. She shares:

“Once I read the symptoms, it all made sense to me. I had been struggling with these symptoms for a few years before my diagnosis, but I never knew they were part of a bigger picture. I had been really fatigued and didn’t understand why, but it was debilitating. I could sleep for hours. I had lots of headaches, even though they have gotten better. Lower back pain. A lot of swelling in my hands and feet. I even remember always having blood in my urine, which I was frustrated about because doctors told me it wasn’t a big deal.”

As she looks back on her experience, Elle wishes that doctors had communicated to her that IgAN was an autoimmune disease, that it was rare, and that there was no cure. She would’ve wanted to ask questions: what IS IgAN? How do you manage it? What did this diagnosis mean about the rest of her life? How would this affect her life?

Elle urges all physicians to consider providing more in-depth education and emotional support when providing a diagnosis.

Transplant Time

After grappling with her diagnosis, Elle was placed on hemodialysis for a few months. She later transitioned to peritoneal dialysis, which lasted for a few years. Then it was time to receive her kidney transplant.

It has now been eleven years since her transplant, but Elle explains that getting a transplant doesn’t mean that the care plan is over. There are still many considerations and potential complications that can come with the transplant. She says:

“I have to closely monitor my condition because the transplant, while helpful, is not a cure. It’s a treatment. There is still a chance of the IgA recurring. I have to do regular bi-monthly urine tests and monitor my protein levels closely. I visit a nephrologist regularly. Any signs of it elevating mean we have to look at other options. While I still have a lot of fear about it returning, I feel empowered and in control the more I speak about it with my doctor.”

Because she’s traveling around the country in her skoolie, it can be challenging sometimes to keep up on monitoring. She still has labs done every two months. With planning and communication with her health team, she has made it work. But sometimes it necessitates checking where she’ll be traveling and what local health facilities will be available.

Since receiving her transplant, Elle pursued (and graduated with) a Master’s degree in social work. She later became a licensed therapist to help others with chronic illnesses manage the mental burden that often comes alongside a rare disease diagnosis.

The Importance of Caring for your Mental Health

Mental health is important at every stage in your life. How you feel affects how you act, engage with others, think, work, and more. People with rare conditions often face scrutiny, worry about their health, and other stressors. Unfortunately, there remains a lack of mental health awareness and support in the rare disease and chronic illness sphere.

Elle definitely struggled with her mental health at the time of diagnosis, during dialysis, and during the pre- and post-transplant phases. She shares:

“I experienced really difficult levels of anxiety and depression, which were not really addressed by my team. When I mentioned these feelings during quick check-ins, I was often asked if I wanted medication. During my journey, it would have been helpful to have a discussion on how important mental health is, and I really wish there was more emphasis on that in care plans. Mental health is just as important as our physical health in establishing quality-of-life and helping us to move forward. That really motivated me to improve access to mental health services, and raise mental health awareness, within the chronic illness space.”

One of the specific challenges that Elle has noticed is that “invisible” illnesses can bring an entirely new set of challenges. For example, she shares, many people can be quick to judge someone for not feeling well even if they seemingly look okay on the outside. During her own journey, she’s dealt with friends and family members thinking that she was so tired or unmotivated, even though she was more fatigued than she could explain.

On top of that, there is a general lack of understanding about rare conditions, which makes it difficult to strike up conversations with others.

So how can we change the landscape to include better mental health support? The first step, says Elle, is normalizing mental health as part of care plans and discussions on quality-of-life. If someone has diabetes or cancer, you wouldn’t say, “Don’t tell people you have this. We don’t want you to look weak.” Mental health concerns are still valid health issues and should be treated as such. When someone is diagnosed, mental health information needs to be incorporated. The key is acceptance and normalization.

For those who feel comfortable, they can also pursue working with a professional like Elle, who can provide support and perspective. But, she shares:

“Some people might not feel comfortable with this, and that’s okay! Just try to find an outlet to get perspective, whether that’s joining a support group or getting involved with organizations like NephCure. It helps with feeling seen and heard, and you can hear from others what has helped them.”

Ultimately, Elle recognizes that this journey is tough, frustrating, and sometimes extremely sad. There are many ups-and-downs, and it can feel disheartening or hopeless when you’re not getting the answers, hope, and support you need. But she wants everyone to remember one thing:

“You are not alone. There is support. Don’t give up and don’t be afraid to ask for help. Move forward and live a good, meaningful life. You can do this.”