Introducing Jamie Sue
Jamie Sue Turner of Runnells, Iowa is 8 years old and in the second grade. She’s somewhat of a girly-girl favoring the color pink, singing and dancing, and Disney TV fare such as “Hannah Montana.” Her beauty is certainly more than skin deep, yet her wide smile and large, expressive eyes no doubt added to the "total package" that won her a tiara in a children's beauty pageant at the Iowa State Fair in 2009. But little girls are made of sugar AND spice, are they not? In addition to hobbies like scrapbooking, Jamie Sue is a tough cookie who plays on a youth softball team in the summer.
Until recently, Jamie Sue has enjoyed the kind of idyllic childhood that we all cherish. Her life has revolved around her large family, many friends, pet dogs, hobbies, school and social activities. Due to circumstances beyond her control, Jamie has spent much more of her time at the University of Iowa Hospital in Iowa City than she has at home over the past 10 weeks. You could say Jamie has added another dimension to her active life, and she’s proving that in addition to everything else, she is a tenacious fighter.
Jamie Sue was the picture of robust health until something alarming occurred on December 15, 2009. That evening her ankles were unaccountably swollen. The next day Jamie Sue was at her doctor's office where it was revealed that her kidneys were responsible for the fluid retention. Early treatment and intervention didn't resolve the symptoms, and her journey within the medical system was well underway . . . A kidney biopsy early in the course of her illness established a diagnosis of Dense Deposit Disease, a rare autoimmune condition that affects the kidneys.
Dense Deposit Disease (DDD) is the second, and more serious, type of Membranoproliferative Glomerulonephritis. DDD usually leads to chronic kidney failure and the need for regular kidney dialysis. Typically there is a window of time (8-10 years) before the disease damages the kidneys to that extent. Unfortunately, Jamie Sue is an exception to the rule. Her experience with DDD has been rapid and unrelenting so that she is already battling imminent chronic kidney failure as physicians strive to slow the progression of the disease. At the moment, Jamie Sue is receiving a combination of plasmapheresis and occasional renal dialysis for two purposes: to prevent her immune system from continually damaging her kidneys by removing the certain "bad" proteins from her blood, and to cleanse her blood of toxic waste products and excess fluids. Soon Jamie expects to begin clinical trials to determine whether a hopeful new medication may better spare her kidneys from continued damage by her immune system.
About Dense Deposit Disease
It’s been written that Dense Deposit Disease (DDD) is rare even among rare diseases. DDD makes its appearance in childhood, usually between the ages of 5 and 15 years of age. Experts have estimated that DDD occurs in only two to three people out of 1 million. We can do the math to demonstrate how DDD is “rare among rare” diseases. Taking a rough estimate of 304 million U.S. citizens and expecting to find 2 to 3 cases of DDD per 1 million, we can estimate that significantly less than 1,000 Americans would be afflicted with Dense Deposit Disease. To gain even more perspective, keep in mind that in the U.S. diseases are officially designated as “rare” when less than 200,000 Americans are affected. (So even if there were 200 times more cases of DDD in the U.S., this condition would still fall into the “rare” category.)
Basic Information about Dense Deposit Disease
A lot of great scientific articles have been written about Dense Deposit Disease. This blog entry doesn’t pretend to be one of them. Instead, this piece intends to take a complicated disease and break some of the key features into understandable concepts in order to help parents, family, and friends be better informed about this condition. When a serious illness affects a child that we love, we want to learn as much as we can in order to be helpful and supportive. As parents we want to know as much as possible in order to advocate for our children. Scientific literature is written in a language all its own and often with explanations that may include unfamiliar and confusing terms. (It’s always best to jot down specific questions as you think of them to ask your child’s physicians). For a great website written by experts who manage and study Dense Deposit Disease, visit the University of Iowa’s website devoted to DDD, it's called Kidneeds, and if you are affected by DDD in some way, you will want to check it out.
What’s in a Name . . . ?
In medical jargon, many diseases and conditions have more than one name. When you are looking for information about Dense Deposit Disease, you will also see it referred to as Membranoproliferative Glomerulonephritis Type II (or MPGN II). Scientists originally felt that Dense Deposit Disease was a variation of two similar types of kidney diseases, therefore it was differentiated by calling it “MPGN Type II.” However, in recent years scientific research has discovered that the unique features of this particular variation makes the name Dense Deposit Disease more appropriate. So although MPGN II is an “older” term, you will still see it in literature about this condition.
What are Dense Deposits?
Physical signs and symptoms are present when the kidneys are functioning poorly. Nephrotic Syndrome, is a term that refers to the combined signs and symptoms that occur when the kidneys are unhealthy. More information and test results may be necessary before the physician is able to pinpoint a specific reason for the kidney dysfunction.
A kidney biopsy is necessary to diagnose DDD. This procedure gathers evidence of the underlying reason for kidney damage and allows the physician to make a definite diagnosis. When the tissue from the biopsy is examined with an electron microscope, the unique features of Dense Deposit Disease are clear to the trained eye. As the body’s immune system has malfunctioned, certain proteins have "gone crazy" and started to attack an important membrane deep within the kidneys; bits and pieces of the rogue proteins end up "stuck" to the kidney’s membrane in thick ("dense") ribbon-like patches ("deposits").
An Autoimmune Disease
Dense Deposit Disease is an autoimmune disease. This means that the patient with DDD is suffering an attack from within; their kidneys are damaged by their own immune system.
In theory our immune system protects our bodies from outside invaders such as viruses and bacteria. Sometimes, for reasons that are not well understood, a “glitch” in the immune system causes it to go out of sync. The out-of-sync immune system triggers proteins that usually protect us to, instead, attack healthy tissues within our bodies by mistake. There are more than 80 different types of autoimmune disorders; each one has resulted from a glitch that is aimed at a specific organ or tissue type. Some well-known examples of autoimmune diseases and their specific targets include Multiple Sclerosis in which nerve sheaths are damaged; Lupus, which affects connective tissue throughout the body; Type 1 Diabetes in which insulin-producing cells of the pancreas are destroyed; and Crohn’s Disease and Ulcerative Colitis which both affect the lining of the digestive tract. Autoimmune disorders are chronic in nature meaning they are not reversible, but there are specific treatments for most autoimmune illnesses that can control or manage the condition.
Why an autoimmune illness affects one person and not another is still a mystery. Roughly 5% of the population is afflicted by some type of autoimmune condition. A number of theories have been introduced to try to explain what goes wrong. Heredity, environmental factors, viruses and certain drugs have been suggested. It may be that a combination of just the “right” factors is all it takes for the immune system to make a mistake that will spiral out of control and direct damage towards a specific tissue in our body. Much research is directed towards unlocking the secrets behind what really triggers an autoimmune disease. It’s intriguing (and frustrating) that over the years evidence shows that even with identical twins, one twin may be afflicted by an autoimmune disease while the other stays completely healthy.
Glomerular Basement Membrane
An anatomy and physiology reference is the best source for an in-depth understanding of the intricate and complex means in which the complement proteins of the immune system attack and damage the glomerular basement membrane (GB Membrane) in Dense Deposit Disease. However, I can give you a few key points in layman’s terms to provide a very basic understanding of what this illness entails.
The glomerular basement membrane is the part of the kidney that filters extra fluid and waste products out of the blood. On one side of the GB Membrane is the bloodstream, on the other side of the GB Membrane is urine. The fluid and waste that are filtered out of the blood cross the GB Membrane to become components in urine and are ultimately eliminated from the body in the usual way.
When the immune system damages the GB Membrane, it no longer filters properly. Proteins that circulate in our blood have various important "jobs" to perform within the body so we certainly don't want to lose them. When our kidneys are healthy, there is very little chance of that happening. Proteins are simply too large to go across a healthy GB Membrane. Unfortunately, a damaged GB Membrane does allow those large proteins to be filtered through, and with terrible consequences. When these useful proteins cross the GB Membrane, they are eliminated with the urine. Because they are gone from the bloodstream, the specific jobs they are supposed to perform in the body are jeopardized.
(If you are having trouble visualizing this concept, imagine a trampoline--when the fabric is tight we can hit the surface and bounce back off without fear, but if we happen to bounce on a patch of fabric that is loose and frayed we may fall right through and hit the ground instead. Instead of "bouncing off" the GB Membrane as they normally would, the large proteins go right on through the weakened membrane and are lost to the body when they are expelled by urination.)
With kidney disease the loss of proteins in urine results in a “Catch 22 scenario.” The same proteins that leave the body when the kidneys are damaged have functions that include absorbing unneeded fluids in the bloodstream. Without these proteins to soak them up, the extra fluid in the blood seeps back into the tissues and causes swelling (edema). Importantly, in addition to fluid, dangerous waste products such as creatinine and urea are also retained in the bloodstream. These waste products eventually become toxic to tissue. If the kidneys become too diseased to handle removal of these substances, kidney dialysis is essential.
High Blood Pressure, too . . .
Along with fluid retention from poor kidney function comes sodium retention. Damage to the kidneys also causes an increase in a hormone the kidneys produce (called renin). These three factors combine to cause dangerously elevated blood pressure which must be treated by medication.
Signs and Symptoms of DDD
The early signs and symptoms of poor kidney function may be subtle. When the kidneys are unhealthy enough to allow protein to enter the urine, the urine that is voided is often fizzy or frothy looking. Red and white blood cells may also leak into the urine. White blood cells tend to make the urine cloudy, while red blood cells may cause a red or pinkish hue (or they may only be detected by a lab test and not visible to the naked eye.)
More dramatic and obvious signs of kidney problems include:
- “Puffiness” or swelling (called edema) around the eyes, feet and ankles, hands, and abdomen.
- A general inability to concentrate and mental confusion.
- Dark, "tea-colored" urine. Dark urine is a symptom of glomerular problems and it is related to the inability of the kidneys to properly filter the waste products from the blood.(But dark urine can also be caused by other conditions and can even result from eating certain foods.)
Treatment
Plasmapheresis is one way in which DDD is treated. Plasma is the “watery” part of our blood. Among other things, plasma carries the components of the immune system that cause damage to the "good cells” in people with autoimmune illnesses. In DDD the object is to preserve kidney function for as long as possible, removing the damaging immune components has proven to be a helpful means of doing so. This is done by plasmapheresis in which the patient’s blood is filtered through a machine that removes their plasma and replaces it with plasma from a donor. The donor plasma doesn’t contain the damaging autoimmune components, so the kidneys get a temporary break. With DDD, the patient's body will eventually produce more of the "bad" immune system proteins which will again be circulated in the bloodstream.
Back to Jamie Sue . . .
Lately, as Jamie Sue ponders the future she envisions a career in medicine. She wants to be a doctor. She can do that. She can do anything she wants to do. Individuals with autoimmune conditions learn to adapt and live life to the fullest while managing their illness and undergoing whatever specific treatments that their disease requires. Jamie Sue will do this . . .
How Can You Help?
Support research that aims at finding a cure for DDD. Participate in Fundraising via the Universtiy of Iowa's Kidneeds program which supports DDD research.
Donate Blood or Plasma. Plasma donation is a great way to contribute and it costs only your time. Learn more about the process in the article "Plasma Donation" from LifeShare Blood Centers.
To learn more about blood donation opportunities and find a location near you:
All rights reserved for written content, Carolyn Cooper, MPH, RN, March 2010.
Photos of Jamie Sue Turner used by permission of Misty Turner; photos copyright of Misty Turner.
For Additional Reading:
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