There’s no cure for primary hyperoxaluria, but early treatment can help slow down the progression to kidney disease
Shannon Shelton Miller is an award-winning writer and journalist who specializes in education, parenting, culture and diversity, sports, and health and beauty articles. She has been published in the New York Times, the Washington Post, ESPN.
com, Slate, InStyle and the Huffington Post.Many more would come during the next four decades of her life — along with multiple infections and bladder issues — despite Reid’s efforts to follow her healthcare providers’ advice to drink more water or change her diet. It wasn’t until she was an adult and in kidney failure that she got referred to a kidney specialist , a rare genetic disorder that produces too much oxalate, which leads to kidney stones, kidney damage and, potentially, kidney failure.PH causes too much oxalate to build up in the kidneys and other parts of the body. The excess oxalate eventually contributes to the development of kidney stones, which are extremely painful, and can progress to organ disease and failure. People living with PH either cannot make the enzyme needed to prevent oxalate from building up or they don’t make enough of it. And PH is categorized into three types: PH1, PH2 and PH3. “The three types of PH are based on abnormalities of three different genes, all of which result in increased production and urinary of oxalate,” saidpatients will go on to develop kidney failure if they are not diagnosed and treated early. But effective treatment may slow down the disease. Many people living with PH2 can maintain normal kidney function, but for up to 1 in 3 people, it can progress to kidney failure. Early detection and treatment can make a difference. PH3 is the least common and mildest form of PH and rarely causes kidney failure.Diagnoses of PH often take place when a healthcare provider notices certain symptoms — like recurrent kidney stones — and investigates further. HCPs can order an ultrasound to detect calcification of the kidneys. But a definitive diagnosis takes place through genetic testing or by finding oxalate in urine or plasma.PH can indirectly affect other areas of a person’s overall health. For example, PH doesn’t directly affect a person’s ability to conceive or give birth, but patients with PH can have trouble conceiving if they develop kidney disease or other organ failures.. The pain, infections and other symptoms people experience can affect overall quality of life since the fatigue and pain can force people living with PH to miss time from school, work, socializing and other activities they enjoy. This was Reid’s experience. Because she was often in pain, she had trouble keeping a regular job, and she couldn’t always attend activities and events with her children. The mental toll of not knowing what was wrong and feeling she must be doing something wrong —– perhaps not eating correctly or drinking enough water —– nearly led to a mental breakdown, she said.The main recommendation for controlling symptoms and pain for people with PH is to focus on significant fluid intake to lower oxalate levels in the body and prevent crystallization in the kidneys and other organs. Water is needed to dilute the oxalate that ends up in urine, helping decrease the risk of painful kidney stones forming.. Patients can experience disrupted sleep and interruptions at school and work due to frequent bathroom trips. Support groups for people with PH suggest patients work with schools and employers to get accommodations for their bathroom breaks and liquid intake.Dietary changes can help some patients, and some healthcare providers might suggest avoiding foods with a high oxalate content, like chocolate, nuts and spinach, and limiting animal protein, which can increase oxalate. Reducing salt intake can also help.Because living with PH symptoms can take a toll on patients’ mental health, Warady said patients should work with their care team to find mental and behavioral health providers who can provide support. Patients can also benefit from support groups, such as ones found through the Because of advances in genetic testing, the average age at diagnosis for PH has come down significantly, but the disease can still take a long time to diagnose. Early diagnosis and treatment are extremely important because it can help hold off or prevent the progression of PH. Those diagnosed later in life can face worse outcomes because of the long-term effects of kidney stones, infections and other stresses on the body like bone disease and anemia that result from oxalate buildup. Reid didn’t have the benefit of early diagnosis and treatment, but three years into knowing how to manage her PH1 as best as possible, she has a better outlook on her future. Today, Reid is an advocate for patients with PH through the Oxalosis and Hyperoxaluria Foundation, the organization that supported her through her diagnosis and treatment plan. Receiving kidney and liver transplants and learning how to effectively manage her PH1 for the first time in her life has improved both her physical and mental health. While PH has no cure, getting diagnosed as early as possible, understanding your PH type and working with a healthcare team to determine the best plan of care can make life with the condition easier.When My Son Was Diagnosed With EoE, Our Family’s World Was Turned Upside Downcom, Slate, InStyle and the Huffington Post.
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