Managing a chronic disease is difficult. It’s a process of doctors’ visits, procedures, coping with flare-ups, and trying to get the best treatments to go back into remission. Unfortunately, some chronic diseases have no cure.
Paroxysmal nocturnal hemoglobinuria, also known as PNH, is a rare disease that is still without a cure. At least 400-500 cases are diagnosed annually in the country. Despite the lack of a cure, physicians and researchers continue to seek ways to defeat chronic diseases like PNH. They aspire to improve treatments for patients and improve their quality of life.
Below is everything you need to know about PNH, and what is currently being done for the disease today.
Paroxysmal Nocturnal Hemoglobinuria is a rare blood disease. The condition causes red blood cells to break apart or disintegrate, which is called hemolysis. Due to the lack of a specific protective protein, known as GPI-anchored proteins that coat and defend the surface of the red blood cells, the cells become weak and break to pieces, releasing the hemoglobin inside. It’s this release of hemoglobin that triggers a number of the symptoms of PNH. PNH can cause blood clots and impaired bone marrow function. The disease is associated with aplastic anemia.
The name references passing dark-colored urine, particularly at night. Though while some patients do have dark-colored urine because of the hemoglobin, a large percentage of those who have PNH do not.
PNH is seen as a disease stemming from bone marrow failure. When blood cells produced by bone marrow are damaged or defective, or if the marrow is unable to provide enough of them, it’s referred to as a bone marrow failure. This blood disease is also considered life-threatening.
Near the end of 2018, PNH gained greater awareness when the Food and Drug Administration officially approved the use of a new drug, ravulizumab-cwvz, or Ultomiris, as a treatment for the disease.
The drug is part of what is called complement therapeutics: it addresses the lack of complement-regulating protein cells that keep healthy cells from disintegrating. The medication works on the complement process to manage the symptoms of PNH and save lives. However, the drug can have side effects, including increased risk of meningococcal infections and sepsis.
Another treatment that is currently in development and has received attention is APL-2, or pegcetacoplan. It was fast-tracked as a novel treatment that could be used against PNH. APL-2 is designed to inhibit the complement cascade, and it even can potentially aid in the treatment of other complement-mediated diseases.
Danicopan is another treatment that has been given a Breakthrough Therapy designation by the FDA. Researchers have shown promise in its ability to improve anemia as measured by hemoglobin. Furthermore, trial subjects saw a reduction in blood transfusions and an increase in the hemoglobin of patients who completed the treatment for 24 weeks.
While there may still be no cure on the horizon for PNH, the breakthrough drugs that are now being fast-tracked or put into priority by the FDA show that there are big leaps and advancements in research towards the disease. With better treatments and improved drugs, there is hope that the quality of life of people afflicted with PNH may improve.
PicnicHealth also supports research on PNH by structuring real-world evidence datasets from anonymized medical records of real people living with PNH in the real world. Visit PicnicHealth.com to sign up for a free PicnicHealth account and contribute to research if you have PNH.
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List the names of all the doctors, hospitals, and other facilities your loved one visits regularly, along with those they have visited in the past. Try to go back as far as you can, striving for at least the last 5-10 years, but do your best. Even if you can’t remember them all, having a strong baseline can help you quickly identify gaps in records.
It is important to make sure that you are fully empowered to make decisions on behalf of your loved one with Alzheimer’s. Your relationship status with the patient may not be enough to legally give you access to your loved one's medical information. It is a good idea to talk to an expert about securing special legal status, such as Power of Attorney (POA), a legal document that allows an individual to name someone as their decision maker should they no longer be able to make decisions on their own.
It’s important to have all of your loved one’s medical records together in one spot. This makes it much easier for you and your loved one’s physicians to accurately map the patient’s medical journey and more easily share information between doctors. Fortunately, tools exist to make record management and access simple. A free resource like PicnicHealth helps you collect and organize all of this information. PicnicHealth’s intuitive timeline allows you to pinpoint data across the medical history, eliminating your need for keeping heavy binders filled with paper records or keeping track of multiple software portal logins.
The better you understand your loved one's medical history, the better you can advocate on their behalf. Access and understanding of this information will help you to ask informed questions with physicians. Through regular communication backed by the data in the medical records, you can help your loved one’s care team develop a more successful care plan.
Learn more about PicnicHealth’s commitment to the Alzheimer’s community and the Alzheimer’s Association
Learn MoreWhen you’re juggling appointment times and insurance claims, putting a robust support system together might not strike you as the most urgent task. Investing the time to cultivate relationships with people can turn to in times of need will pay dividends. The next time you need a last-minute ride or just someone to listen, you won’t be on your own.
There are many condition-specific support groups and support groups for caregivers generally in person or online. In addition to the encouragement and empathy they provide, support groups can be a helpful source of tips, resources, and recommendations for navigating caregiving.
The backbone of effective caregiving is organization. Keep medical information, appointment schedules, and medication lists in order. Use a planner or a digital service like PicnicHealth to stay on top of your responsibilities. This attention to detail can prevent future complications and reduce day-to-day stress.
We’ve seen incredible breakthroughs in treatment over the past couple of years, powered by patients and their caregivers participating in research. Stay in the loop about the latest in medical advancements and available resources that could benefit your loved one. Whether it’s a new therapy option or a community service that aids independence, being informed can make a world of difference in the quality of care you provide.
It may seem self-centered to focus on self-care—but when you feel good, you can be a better caregiver. Whether it’s exercise, a mindfulness practice, a soak in the bath, or just time to rest when you need it, carve out those moments in the day when you can unwind, reset, and stay healthy mentally and physically. Think of it as building up your reserves of kindness, patience, and understanding—which can only benefit your loved one. No one can pour from an empty cup.
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Learn More(from 13 patients with LC-FAOD)
38% Female
15 providers / patient
7.5 years of data / patient
(from 13 patients with LC-FAOD)
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