People always say to “look on the bright side,” but when you’re diagnosed with a rare disease, that can be easier said than done. I was diagnosed with primary hyperoxaluria type 1 (PH1) – a rare, inherited disorder that can lead to kidney damage – when I was just 4 years old. However, my family’s history with PH1 began not with me, but with my younger brother Colby. Right after he was born, he became really sick. He experienced flu-like symptoms for days, until the unthinkable happened – his kidneys failed. As a four-year-old, I did not know the gravity of the situation until later. But, even then, I knew that everything changed for our family that day. Colby received a kidney transplant before his doctors finally figured out what was making him sick – it was PH1. I remembered thinking that knowing his diagnosis would mean Colby wouldn’t be sick anymore. And while knowing his diagnosis helped my family better manage his health, it also meant that me and my siblings may also have it. The doctors told my parents to have my siblings and me genetically tested immediately, and that is when my journey with PH1 started. I was diagnosed with PH1 at four years old, about four weeks after Colby received his diagnosis. Four years later, my little sister was also diagnosed right after being born. Somehow, our older brother was the only one who was spared. Because of our experience as a family – with three kids living with the same rare disease – our story is featured in an upcoming episode of PBS Medical Stories. PH1 is caused by a defect in an enzyme in the liver, resulting in the overproduction of a substance called oxalate. This excess oxalate can combine with calcium and cause kidney stones and progressive damage to the kidneys, which ultimately happened to Colby. For Colby, although he had received a kidney transplant prior to his PH1 diagnosis, the overproduction of oxalate in his liver had remained an issue, and he eventually needed a liver transplant as well. Once I learned I had PH1, I was scared I would go through the same things as Colby and eventually, I did. However, I was able to find solace in the fact that we had lived through this experience before and inspiration in my brother who made it through, which gave me the hope and determination that I too could get through this. My PH1 diagnosis started to have an impact on my life around the time I was about 10 or 11 years old. I started experiencing nausea, but thought I probably just had a stomach bug. I rested at home waiting for it to pass, but when I didn’t get better, I went to the doctor and was told I had kidney stones. That was the first time I really felt I had PH1. And I mean I really felt it. The kidney stones were a painful, miserable experience that led me to finally accept that I had PH1 and that it was affecting my body. This realization was extremely difficult to come to terms with as a young fifth grader, but from then on, I began working with my doctor and family to manage the disease and persevere. After experiencing my first round of kidney stones, I began to appreciate just how important it was to drink water and stay hydrated, as it flushes toxins from the kidneys. My parents were also extremely helpful – they were constantly on top of me to drink more water! I was drinking water constantly, and although I knew I needed to do it to support my kidney health, as a kid, sometimes it was frustrating. Despite doing my best to avoid kidney stones by drinking liters of water each day and working with my doctor, I knew I could continue to get them, and it was a constant worry. Although I managed to avoid additional kidney stones for quite some time, they returned the summer before my senior year of high school. This time around, however, it was different. In addition to the pain and discomfort from the kidney stones, I was also experiencing extreme fatigue. The reason? My kidneys had suddenly started to fail, just like Colby’s did years ago. Within three months, my nephrologist decided that I needed to begin dialysis and get on a list to receive a dual liver-kidney transplant. I was devastated. It had already been challenging to manage my fatigue – I had stopped hanging out with my friends and doing other activities I enjoyed, like hiking and swimming – and now I had to get dialysis several times a week for hours at a time. Adjusting to the changes in my social life and separation from my friends was difficult, and even though dialysis helped with my energy levels, I still felt tired and run down all the time. That summer, after graduating from high school, I watched from the couch as my friends went on camping trips and hung out at the beach. Though I had supportive friends who would come over and do things like watch movies while I got dialysis, I eagerly awaited and remained hopeful that my transplant would come through so I no longer needed to schedule my life around dialysis treatments. I had imagined it would only be three or four months before I received my transplants. I was more stressed about the anticipation of the call telling me my transplant was available than I was about the surgery itself. After seeing my brother go through his transplants, I had a sense of hope and confidence, especially knowing that whenever my time finally came, I would go to the same hospital with the same doctors. After a year of waiting on the transplant list, we finally got the call. It was a Tuesday, I was with my family at the movie theater, and I instantly recognized the area code on the incoming call as the location of the hospital. I left in the middle of the movie to take the call and spoke to a nurse who confirmed that there was a liver and kidney available and that I needed to get to the hospital as soon as possible to go into surgery. I ran back in and told my mom we had to get up and go – now! I felt a rush of both nervousness and excitement. This was everything I had hoped for, and it was happening just in time for me to be able to start college the following January. I felt so much relief that I was going to potentially be done with dialysis and I could finally move on with my life. Post-surgery, the doctors said my dual transplant was a success, and for a moment, I was relieved. I thought it meant I could go back to my life before PH1 and live my life to the fullest again. While it’s true that I no longer have PH1 symptoms as a result of my dual liver-kidney transplant, my life has been profoundly affected by the disease and I still see its impact in so many facets of my life. Because of my transplant, I need regular blood tests and take a host of medications, mostly immunosuppressant drugs to prevent my body from rejecting my donated organs. The most important lesson I’ve learned from my experience with PH1 is to have hope and remain positive. While it was challenging to experience kidney stones and to go through dialysis everything turned out OK – really, better than OK. I credit this to my family’s experience with the disease, my great care team and having a hopeful and positive outlook about the future. My experience with PH1 has driven my will to live and to think positively, despite obstacles that are thrown at me. I am able to find peace, joy and happiness living the life I want to live. I’m even able to go camping, hiking and rock climbing – and yes, I still pack extra water! Being able to do all the things I love brings me so much happiness, and I hope that by sharing my story, others with PH1 may see that, despite the toll PH1 had on my health, things got better for me. It was possible for me to find a way to live a life that brings me joy. To learn more about PH1, talk to your doctor and visit TakeOnPH1.com . You can also find additional resources and support through organizations like the Oxalosis & Hyperoxaluria Foundation , American Kidney Fund , National Kidney Foundation or National Organization for Rare Disorders . To hear more about my family’s story, stay tuned for our episode of PBS Medical Stories, coming soon.
Hello, everybody! I'm new here!
My name is jennifercramermiller and I'm happy to be a part of the Mighty community. I've had four kidney transplants over the past thirty-plus years due to an autoimmune kidney disease. I love the Mighty's mission to make health about people, and I'm here for motivation, inspiration, and understanding. I'm also a contributing writer and believe all of our stories matter.#ChronicIllness #KidneyDisease #AutoimmuneDisease
How do you know if a doctor is a good fit?
Supporting my dear friend
Does anybody have groups for end stage kidney disease? My friend was just diagnosed at only 45 with fibrillary glomerulonephritis. She has 2 children to support. #KidneyDisease
I'm new here!
Hi, my name is HopePrincess12. I'm here because I am a fairy new CKD patient. I went from being mildly ill to being critically I’ll and hospitalized for over 100 days. I am slowly learning to navigate the waters of this Spoonie life, but want to build a circle of confidantes and friends who understand what it feels like to constantly be fighting to live everyday.
I have trust issues. And amazingly, they don’t stem from one too many “trust falls” gone wrong from my younger years (though maybe that contributed). My trust issues center around bigger things: trusting my body, trusting my doctors, and trusting… life. I was diagnosed with atypical cystic fibrosis (CF) one month and eight days before I turned 20. I had been complaining to doctors for as long as I can remember about having trouble breathing, being tired all the time, getting sick if I ate “normal” kid food, and of course, my bi-monthly “asthma attacks” that left me unable to talk, breathe, or swallow for up to a week. “It’s asthma,” my pediatrician would say. “She’ll grow out of it.” When my chronic digestive symptoms worsened around age 13, I was told to drink prune juice. When that didn’t work, it was medication. Nothing worked. My diet became more and more restricted to the five things I knew wouldn’t make me sick: lettuce, cucumbers, frozen strawberries, bananas, and protein powder. I got sicker and sicker, and it was clear that I wasn’t healthy. I started figure skating when I was 8 years old and quickly knew I had found my heart’s passion. I fell in love with it and trained to the best of my body’s ability — withholding from my coaches the pain it caused. I felt like figure skating seemed to wear me out and be a lot harder for me than for my training partners. Skating isn’t a sport that welcomes showing “weakness,” and since I was being told by all of my doctors I was “fine,” why would I say anything? After graduating high school, I moved and started training at an Olympic training center with renowned coaches from all over the world. I was living my dream—but trying to ignore the so-obvious fact that my body was breaking down. Just from my appearance, it was hard for anyone to ignore it — including my coaches. After only five months of professional training, I had a serious fall that took me off the ice and also led to my getting diagnosed with osteoporosis at only 18 years of age. I was terrified and heartbroken — being told I needed to stop skating because it was too risky for my bones was hard. I was no longer able to train or skate at all, so I moved home feeling utterly defeated. I knew something wasn’t right — everyone did — but I didn’t have any faith that doctors would finally be able to tell me what was wrong instead of just dismissing me as usual. Ironically, my saving grace came in the form of a lung infection — pseudomonas aeruginosa, to be exact. I woke up unable to speak or swallow, thinking my training-too-hard days were finally catching up with me — only to find out that my lungs were swimming with super-rare, hard-to-harbor bacteria. The urgent care doctor casually dealt me some medication and assured me I would be better in 10 days. Being the investigator — and skeptic — I am, I wasn’t convinced (or reassured), so I consulted “Dr. Google” to find out how in the world I came down with this rare infection. I learned that there are basically three conditions that can make you contract this bacteria — acquired immunodeficiency syndrome (AIDS), cancer or cancer treatment, or cystic fibrosis. I knew I didn’t have AIDS and I had not had chemotherapy or radiation, so all that remained was cystic fibrosis. “There’s no way I have that,” I said to my mom. “That’s that ‘baby disease!’ They would’ve caught that.” I pulled up an article about CF, reading through the symptoms just in case. As I did, my heart sank and tears flooded my face as I realized that everything made sense. All the puzzle pieces fit together. How in the world had the doctors missed this? I returned to my pediatrician — now no longer content to accept her prune juice and prescriptions. “I want you to test me for cystic fibrosis. I think I have it,” I insisted. She ceased her note-taking and looked up at me blankly. “I think you might be right,” she replied. I was referred to my nearest cystic fibrosis center for evaluation and testing. By the time of my appointment, I had struggled to eat and was so weak I could hardly walk. When the doctor at the cystic fibrosis clinic walked into my room, she took one look at me and immediately sent me down to the emergency room to be admitted. I had a complete abdominal obstruction, pancreatitis, four different lung infections, liver disease, and kidney disease. A few days later, I was also diagnosed with cystic fibrosis. A little less than a year after that, I got my genetic test results and was told it’s not “typical” CF, but a rare variant of it instead — one that doctors and researchers know absolutely nothing about. All they knew from clinical observations is that those of us with this form of CF fare no better than others with CF… and sometimes we’re even more affected. My initial shock-turned-sort-of-relief after actually having a diagnosis was smashed once I was told, “We don’t know how to help you.” The fact that my condition was getting more severe every month didn’t help. I started having one obstruction every week. I upgraded to GoLytely as my drink of choice — until even that stopped working. I did everything I knew to do, and my efforts did help — but only to keep things at bay. Eventually, the things I tried weren’t even readily doing that. In 2019, I had surgery for an ileostomy, which improved my quality of life and health tremendously… but not before I experienced literally every complication you can possibly have with an ostomy. One complication still lingers — prolapse — a common symptom in both CF patients and those with Ehlers Danlos syndrome (EDS), which I was also diagnosed with in 2020. Living with both cystic fibrosis and Ehlers Danlos syndrome is hard for me. The two diseases so often conflict with one another (Imagine a chronic cough with a hole in your abdomen and weak connective tissue!), and I honestly struggle to deal with them both. Most days, I feel terrified of when the other shoe will drop. I know I have more surgeries ahead — some of which will be harder than the ones I’ve already had. It’s another terrifying thought. So how can you trust that everything will be OK when nothing has been OK in a long time? I honestly don’t know. And after a long time of trying to figure it out, I’m not trying anymore. Trust is a brutal battle — just like an organ shutting down or an insurance pre-authorization. Sometimes trying to find the answer to unanswerable questions — like how to trust with a disease — isn’t necessarily the answer we maybe should be trying to find. Sometimes the only way to figure out how to keep going is to step back and realize we have been going — day after day, month after month, year after year. And even when it’s our bodies that so often betray us, we may need to step back and acknowledge that our bodies have enabled us to keep going. Sick or not, CF or not, EDS or not, it keeps surviving. And that body? The one that’s been through what it’s been through and still keeps on? That’s something we can trust.
What was your rare disease diagnosis journey like?
I'm new here!
Hi, my name is English_Rose49. I'm here because I fell in love with my Ex Husband 6 months ago. We met again for the first time, I was sorrowed by his condition. We were planning on moving in together and now I am having second thoughts about it. He has CHF, Chronic Pain, Kidney disease and a Miryad of other problems. he is not capable of having any kind of intimate relationship with me. I want one and need one. I suffer from Bi-polar 1, Severe Depression, anxiety, Diabetes, and CAD. and chronic pain. Is it possible to have any kind of loving relationship with each other? or as I suspect I will end up being his caregiver for the rest of his life?
Which area of your life does your rare disease impact the most?
Do you feel like you’re still searching for the "right" treatment for your rare disease?
Latest
