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.

Strong Like a Mother: How Judy Has Remained Steadfast Through Her IgAN Journey

In 2018, Judy began experiencing a multitude of concerning health symptoms. She had pain in different areas of her body and seemed to be experiencing sleep apnea. Although she tried to lose weight, the scale wouldn’t budge. Eventually, Judy pursued care from her doctor. Through her own research, she thought that she might have Hashimoto’s disease. The doctor disagreed, saying that losing weight would make the symptoms go away, even though her body seemed unwilling to do so.

But that was the cause, the doctor insisted. After all, her lab work seemed normal. So Judy tried to put aside her concern. At the time, she was working full-time and had a toddler; her life was busy and stressful. Maybe she just wasn’t coping well with the stress.

In August 2019, Judy still wasn’t feeling entirely like herself. She decided to make an appointment with her primary care physician. And in the office, her PCP had concerns. Judy’s blood pressure was too high. After running lab work, the doctor determined that Judy has stage III chronic kidney disease (CKD). A later biopsy discovered that she also had IgA nephropathy (IgAN).

Although her journey has not been easy, Judy has worked tirelessly not just to improve her health, but to become an advocate for others within the IgAN community.

Understanding the Facts of IgA Nephropathy (IgAN)

Also known as: Berger’s disease

IgA nephropathy is a rare and chronic kidney disease. Normally, our body has a protein/antibody called IgA that protects against germs and foreign invaders. In IgAN, the immune system mistakenly sends this protein to the kidneys. As IgA builds up in the kidneys, and attacks the glomeruli (the filtering system), the kidneys stop functioning properly. Waste builds up and the kidneys leak protein and blood into the urine. Doctors believe that IgAN is immune-mediated; this condition often follows a viral illness in the upper respiratory or gastrointestinal tract. Shares Judy:

I had shingles in 2018 and my immunity crashed. That started my issues with blood pressure and brain fog to the point where I once got into a car accident. All of these little things clicked once I got diagnosed.

In a majority of cases, symptoms of IgAN first manifest between early teens and 30s. IgAN is also more common in Caucasian or Asian males; in fact, this condition occurs twice as often in men than in women.

Symptoms of IgAN may include:

• Hematuria (blood in the urine) that may appear as tea or rust-colored urine
• Proteinuria (excess protein in the urine)
• Swelling of the hands and feet
• High blood pressure
• Pain below the ribs or in the loin area
• Nausea and vomiting
• Fatigue and weakness
• Kidney failure

There is no cure for IgAN but the condition can be managed with medications or transplants.

Coming to Terms with the Diagnosis

When she first learned about her diagnosis, Judy was thankful to have her nephrologist giving her the news. He explained that IgAN is rare and has no cure, and he sent her home with a treatment plan and plan of action moving forward. Says Judy:

I did a ton of research on my own, and my nephrologist and I continue to compare notes. He says he has learned so much about IgAN from listening to me. And I’m fortunate enough to have a doctor that let me do my own research and bring it back to him. He has really allowed me to be my own advocate, look for treatment ideas, and bounce these off of him: is this something we should look into or need to talk about?

While her nephrologist has been a great help during this time, Judy has also had to grapple with what life with a rare disease means. Right after she was diagnosed, she was on high doses of prednisone. She never felt full and, even with the action she was taking, she wasn’t seeing a change in her kidney function.

The potential treatment plan? Dialysis. But Judy looked at her husband and her son, and she wanted to make a change. For them. To be with them longer. And to her, that meant staying off dialysis for as long as she could.

A class on living with CKD offered a potential path forward: dietary and nutritional changes. One of the big messages in the class was that plant-based, low-sodium, and heart-healthy diets could mitigate some of the symptoms and negative health impacts of her conditions. Judy immediately told her husband that she was going to change her diet and he agreed. She shares:

It was kind of a funny moment. My husband was a chef and I worked in catering. We had dealt with dietary restrictions before, so it was a weird little turnaround moment for us when we realized that these dietary restrictions can really be huge for controlling your health. And I was about to jump in. Since then, my husband has always made a point to be there for me—nutrition or not. He even eats what I eat, even though he’s not on a plant-based diet.

For two years following diagnosis, Judy’s kidney function stayed at a baseline of 40-45%. However, her kidney function has started to fall and her creatinine levels are rising. For the time being, Judy continues to advocate for herself as her doctors work to identify if this is a result of her IgAN or something else.

Strong as a Mother

Throughout her journey, Judy has been immeasurably thankful for the support of her husband and her son. She wants to see her son grow up and to experience all that she can with him. So she continues to fight. Judy shares:

My son keeps me in check. He’s so great when I’m having my low moments. He always offers love and support when I’m feeling down, or cuddles, or jokes to make me laugh. That’s probably one of the most amazing things about having a child while managing a chronic illness: great distractions.

Having the family support means the world to her, especially as Judy continues to face challenges associated with her condition. Because her symptoms aren’t always visible, some people don’t understand what she is dealing with. She explains:

I have friends that tell me I’m fine, that I can still hike or swim. I admit, I look fine. I seem like I can walk up a hill and sometimes I can. But is someone going to carry me down if I can’t? If I fall and cut myself, or swim with a cut on my foot, I’m at a greater risk of infection. People tell me that I can do things, and I can still do a lot, but there are many ways that living with a chronic illness makes these harder. Similarly, sometimes people don’t believe that I should have a handicap placard.

But despite these challenges, Judy continues to push forward: to advocate and encourage not just herself, but others living with this condition. Her goal is to educate people on what life is like with a chronic illness: whether by raising awareness through the greater public or sharing her experience and explaining the treatment process to people who are newly diagnosed. She says:

That’s the biggest way that I advocate: making sure people know what IgAN is and how it affects us. I also think it’s important to look at policies and understand how it will affect us as a community. One example is telehealth. Living in Hawaii, we don’t have access to many specialists. So increasing access without having to leave the island is huge, and I’m glad that more policies are being implemented to allow this to happen.

For people who are newly diagnosed or looking for more information, Judy recommends reaching out to organizations like IgAN Connect or the IgA Nephropathy Foundation. Having worked with both organizations, Judy recognizes their wealth of resources and depth of community support, as well as their focus on research. In the end, she shares:

Having treatment is great. But we don’t want to live with this. If we can cure it, that would be amazing. It may not happen in my lifetime, but if what I’m doing now helps gain more interest and research into IgAN, it’s worth it. And until we reach that point, I will continue my outreach and find ways to make sure that everyone in this community knows that they are not alone.