Handling a Rare Disease
- Katie O’Neil, Catawba County, North Carolina, donated her kidney to her toddler daughter Kenzlyn Brunelle, and now she’s raising awareness in hopes others will choose to become kidney donors.
- If you’re wondering whether you qualify to become a living kidney donor, the National Kidney Registry offers an introductory questionnaire on its website.
- The NIDDKD explains, “The kidneys are two bean-shaped organs. Each kidney is about the size of a fist. Your kidneys filter extra water and wastes out of your blood and make urine. Kidney disease means your kidneys are damaged and can’t filter blood the way they should.”
- Handling a rare disease can be very overwhelming and SurvivorNet’s experts have guidance on how to seek out specialized treatment providers.More common diseases might not require the same degree of specialized attention, but finding doctors with specific expertise may be necessary for rare ones. In that case, the most effective place to find a specialist is often at academic centers and comprehensive care centers.
- The SurvivorNet Clinical Trial Finder and websites called Clinicaltrials.gov and PubMed are great resources to use if you’re considering experimental treatment for your rare disease. These databases can also help you find doctors who specialize in your disease.
- Other options you may pursue include researching companies that are in the process of developing drugs to treat your specific disease and investigating the possibility of “compassionate use,” which makes drugs available to some patients before the drugs are officially approved.
Prior to the life-saving kidney donation, her daughter was diagnosed with a rare kidney disease called congenital nephrotic syndrome, which is described by John Hopkins Medicine as “an inherited disorder characterized by protein in the urine and swelling of the body, occurs primarily in families of Finnish origin and develops shortly after birth.” It’s a disorder that often results in infection, malnutrition and kidney failure, and can lead to children having a lifespan of only five years.
Read More“She was posted all over Facebook trying to find somebody. We did the testing and eventually, I was able to be her donor. So on May 1, she got her new kidney, and we’ve been crazy ever since.”
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According to Dr. Susan Massengill, who works at Levine’s Children’s Hospital in Charlotte, North Carolina, and also spoke with WBTV, the rare kidney disease Kenzlyn was diagnosed with “put her at risk for infections that could’ve led to severe illnesses.”
O’Neil continued explained further, “In the beginning, we were doing infusions three times a week, so we still have to drive an hour and a half or so three times a week for that.
“When she was on dialysis it was three or four times a week for four hours at a time. Now, we’re down to once a week just labs and we see the doctor and get her lab work done.”
Dr. Massengill also noted, “The average life [of a donated kidney] is 8-10 sometimes or 12 with these donors but our medicines are better and they’re doing better overall.
“So my hope is that she will be well into her adolescence or early adulthood before she would need another kidney.”
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O’Neil then pointed out the importance of people becoming donors, saying, “There’s still tons of our friends at the hospital, a lot of pediatric, a lot of adults that need Kidneys.
“And Kidneys are one of the organs that you can share while you’re still alive.”
Looking back on O’Neil’s push to find a donor, before she learned she could donate her kidney to her daughter, she often took to social media to inform others about her daughter’s health issue and need for a new kidney.
In March 2023, she wrote alongside a photo of her daughter, “I want to help raise awareness for kidney disease this month so I’ll be sharing info and graphics. As most of you know now, our baby Kenzlyn has a rare kidney disease known as Congenital Nephrotic Syndrome-Finnish Type. Basically her kidneys don’t function properly and let out too much of a type of protein that helps her blood stop from clotting too much (Among some other things).
“There’s no cure. She will eventually need a kidney transplant. She’s a little warrior, and she’ll be an amazing spokeswoman for this disease, If that’s what she chooses!”
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How To Become a Living Kidney Donor
The National Kidney Registry explains, “Many people do not realize that they may be medically qualified to donate a kidney to one of the more than 90,000 people in the United States currently waiting for a kidney.
“A kidney from a living donor not only allows the recipient to undergo a transplant much sooner, but also typically lasts longer than kidneys from deceased donors.”
If you’re wondering whether you qualify to become a living kidney donor, the National Kidney Registry offers an introductory questionnaire on its website.
If you’re in need of a kidney donor, check out the National Kidney Registry to find a match.
Meanwhile, in the future, artificial kidneys may be available for those in need of a kidney, as they are medical device that provide the same function as a kidney.
You can read more more about The Kidney Project’s artificial kidney, here. The Kidney Project is a national research project that has “a goal to create a small, surgically implanted, and free-standing bioartificial kidney to treat kidney failure.”
Understanding Kidney Disease
The type of rare kidney disease O’Neil’s daughter was diagnosed with is called congenital nephrotic syndrome, which MedlinePlus says is a kidney condition that begins in early childhood and usually leads to irreversible kidney failure (end-stage renal disease) at a young age. “Children with congenital nephrotic syndrome begin to have symptoms of the condition between birth and 3 months,” MedlinePlus notes.
“The features of congenital nephrotic syndrome are caused by failure of the kidneys to filter waste products from the blood and remove them in urine. Signs and symptoms of this condition are excessive protein in the urine (proteinuria), increased cholesterol in the blood (hypercholesterolemia), an abnormal buildup of fluid in the abdominal cavity (ascites), and swelling (edema),” the health database explains.
“Affected individuals may also have blood in the urine (hematuria), which can lead to a reduced number of red blood cells (anemia ) in the body, abnormal blood clotting, or reduced amounts of certain white blood cells. Low white blood cell counts can lead to a weakened immune system and frequent infections in people with congenital nephrotic syndrome.”
According to National Institute of Diabetes and Digestive and Kidney Diseases (NIDDKD), “You are at greater risk for kidney disease if you have diabetes or high blood pressure, if you experience kidney failure, treatments include kidney transplant or dialysis, or suffer from other kidney problems include acute kidney injury, kidney cysts, kidney stones, and kidney infections.”
The NIDDKD explains, “The kidneys are two bean-shaped organs. Each kidney is about the size of a fist. Your kidneys filter extra water and wastes out of your blood and make urine.
“Kidney disease means your kidneys are damaged and can’t filter blood the way they should.”
According to the National Kidney Foundation, the following are signs of kidney cancer:
- Fatigue
- Trouble Sleeping
- Dry or itchy skin
- Urgency to urinate more often
- Blood in urine
- Foamy urine
- Swollenness around eyes, feet, or ankles.
- Diminished appetite
- Muscle cramps
Have a Rare Disease? Here are Some Resources
All sorts of feelings of anxiety, fear, and loneliness can come with the diagnosis of a rare disease. But it’s important to know you’re not alone. Below are some helpful resources for the many people affected by lesser-known or less-researched diseases.
Academic Centers and Comprehensive Care Centers
For some rare disease warriors, community centers provide great treatment options. But for people with rare conditions, cancer or otherwise, more specialized care may be required. In that case, the most effective place to find a specialist is often at academic centers and comprehensive care centers.
In a previous conversation with SurvivorNet, Dr. Kenneth Miller, director of outpatient oncology at the University of Maryland’s comprehensive cancer center, explained what differentiates a “comprehensive cancer center” from other treatment providers.
Seeking Care at a Comprehensive Cancer Center
“Pretty much automatically, there’s going to be a team approach [to your care],” Dr. Miller said. “Surgical oncology, medical oncology, radiation oncology, and all the support services, and also wonderful pathology and radiology.”
Dr. Miller added that at a comprehensive cancer center, all of these different specialists work together as a team to help you find the best course of treatment for your specific kind of cancer.
“We call it a tumor board, a group to go through all the details of your case so you get a group of very smart people coming up with a plan together that is hopefully optimal and gives you the best chance of doing well.”
Clinicaltrials.gov and the SurvivorNet Clinical Trial Finder
Another place to turn to when you’ve been diagnosed with a rare disease and you’re considering experimental treatment ) or trying to find specialists) is clinicaltrials.gov, a database maintained by the U.S. government that compiles privately and publicly funded clinical trials conducted around the world.
Clinical trials themselves are research studies that compare the most effective known treatment for a specific type or stage of a disease with a new approach.
Clinical Trials Can be Life-Saving for Some
Clinicaltrials.gov can help you explore possible treatment options by looking at trials that are actively recruiting. The site also provides the information of some of the most specialized doctors in a specific field since they often end up leading clinical trials that advance our understanding of diseases.
By searching your disease on Clinicaltrials.gov, you will usually come across a list of many studies. The lead researcher will be listed under the heading, “Investigators.” Lead researchers in studies on rare diseases are typically doctors who have specialized in the study of that condition.
And if you’d prefer to search for clinical trials on a more user-friendly site, try SurvivorNet’s new A.I. driven tool built on top of clinicaltrials.gov: the SurvivorNet Clinical Trial Finder. This tool is updated daily and gives users access to more than 100,000+ individual clinical trials to help them find treatment options.
To use the SurvivorNet Clinical Trial Finder, simply answer some basic questions using our custom-designed chat feature and we’ll send clinical trial options within your region right to your email. In simplifying the search, we hope to offer multiple opportunities for clinical trial sponsors and clinical research organizations to engage with patients.
“Clinical trials are critical to the development of new therapies, and as we live through this extraordinary revolution in genomics, immunotherapy and targeted therapy, it’s clear that one of the most pressing needs for patients, clinical trials sponsors, and researchers is simply a better way to find patients,” SurvivorNet CEO Steve Alperin said. “Even one percent more people successfully enrolled in clinical trials can change the world.”
PubMed
Similar to clinicaltrials.gov, PubMed is another place to turn if you’re looking to research your rare disease. This website includes more than 33 million citations for biomedical literature from MEDLINE, life science journals, and online books.
If you type in your disease, you’ll see a list of studies and articles about the condition. You can even add a filter to only look at clinical trial information. By looking at the doctors associated with the published clinical trial results and other articles, you may be able to find doctors that specialize in research for your disease.
Newly-Developed Drugs
For those who’ve been recently diagnosed with a rare disease, we also want to highlight reasons for hope since there is something of a revolution going on in the development of drugs for rare diseases.
The sequencing of the human genome has enabled doctors to take new approaches to treating some of these uncommon conditions. One step you may take after being diagnosed with a rare disease is looking into the drug companies developing drugs to treat your condition.
Compassionate Use and Off-Label Use
Drug companies may be able to help patients enroll in clinical trials, and in some rare cases, they may even be able to offer “compassionate use.” Compassionate drug use makes a new drug that has not been fully approved available to a patient facing a serious illness. This only typically happens when a patient has exhausted all other treatment options, but it is an important option to understand.
Similarly, researching drug companies may be a path to “off-label” drug use. Off-label drug use involves taking a drug that has been approved for treating one condition in the hopes that it may treat another condition that it has not yet been approved for.
Contributing: SurvivorNet Staff
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