Now What? Jodi Kayler & Cheryl Biermann
Atypical HUS 101 (from a Parents’ Perspective)
So the doctors have diagnosed your child with Atypical HUS, now what?
So, you or your child's symptoms have led you to the doctor or straight to the hospital. Symptoms may have included extreme fatigue, puffiness, vomiting, paleness, fever, and perhaps some diarrhea. It is possible that you noticed swelling as well as dark or strong smelling urine. Your child's appetite may have completely vanished and you are struggling to get them to eat.
Now you are hearing terms like schistocytes, blood smears, red blood counts, white blood counts and protein in the urine! What does it all really mean?
Types of Hemolytic Uremic Syndrome (HUS)
There are two types of HUS; typical HUS (caused by Ecoli), and Atypical HUS (caused by an unknown reason, genetic mutation, or other illness).
> HUS (Typical HUS) Typical HUS, is can be triggered by exposure to Ecoli. Ecoli can cause an immune system response that causes hemolysis (shattering of blood cells) and kidney failure. In typical HUS, most cases will not reoccur after initial occurrence (typically lasting 4-6weeks). Cases can see long-term kidney damage and issues with high blood pressure.
> atypical HUS Atypical HUS can be triggered for a variety of reasons such as a genetic mutations, pneumonia, gastro-intestinal illness—as well as unknown reasons. The biggest difference from typical HUS is that this form of the disease is unpredictable and can and will relapse or reoccur frequently. Each case is different. Some cases will relapse intermittently--triggered by a virus--while others never truly reach remission. Some relapses are relatively mild and easily controlled while others come on devastatingly quick.
What is happening to the body during the attack?
The blood cells are breaking apart making tiny microscopic clots and cell fragments that travel to the kidneys and cause severe anemia and kidney failure. When the kidneys fail to work, the body fails to rid itself of toxins, the urine output declines, and the amount of protein in the urine will increase. This process can permanently damage the kidneys. Poor functioning kidneys also lead to high blood pressure and swelling which can stress the heart and lungs. In rare cases, blood clots may develop somewhere else in the body.
About the Doctors
Atypical HUS is a very rare disease. Having knowledgeable specialists is critical for successful treatment. Most likely other doctors and specialists will be consulted with but typically these are the doctors that will be primarily involved in a aHUS case:
> Nephrologists are experts of kidney diseases. This doctor will monitor kidney function, electrolytes, blood pressure, disease activity, and dialysis (when necessary). Kidneys are very sensitive and difficult to manage. This doctor should be heavily involved in a patient’s treatment.
> Hemotologists is an expert in blood diseases. This doctor will closely monitor HUS activity and the function of the body’s blood. This doctor is also often an Oncologist which specializes in cancers and other blood diseases.
Treament Types
> Blood Transfusions: Some kind of blood product transfusion is almost always the first line of treatment. Typically, patients are admitted with low red blood cell and platelet levels. Depending on a doctor’s decision, a patient may receive packed red blood cells, whole blood, and/or platelets in order to stabilize their current situation. These products help return the blood to a reasonable level but do not treat the disease. When blood products are given, doctors have to closely manage fluid levels in the body. If the kidneys are not properly working, the extra fluid can cause stress on the heart and lungs.
> Plasma Therapies including Plasmapheresis (Plasma Exchange) and FFP (Fresh Frozen Plasma). Plasma therapy is the most traditional way to treat aHUS. By transfusing healthy plasma (FFP) into a patient, it can help supplement what the patient’s body is missing. Plasma can be thought of as “the glue that holds the blood together and prevents the blood from shattering.” Some cases do not respond or are sensitive to extra fluid, so “Plasma Exchange or Plasma Pheresis” is used. This process filters out all of the body’s original plasma and replaces it with healthy donor plasma. This process is more invasive but also can help to get control of the disease faster. Patients with genetic mutations respond especially well to plasma therapies.
> Soliris--Eculizumab
For the first time, there is a new treatment for the disease called Soliris. Soliris is an IV medication, given intravenously on a routine basis. Even though this drug is not yet FDA approved for treatment of the disease, many case are currently being treated very successfully with this medicine. Some are seeing a long-term remission for the first time as well as increased quality of life and kidney function.
See the Soliris forum and read more about the miraculous effect this drug is having on patients, especially if given soon, can prevent long-term damage to the kidneys. Soliris is a very new medication and not many doctors know much about it. Ask if it is a potential for your case.
> IVIG (Intravenous immune globulin) and steroids. Some patients who do not respond to plasma products may respond to treatments that target the immune system. Sometimes IVIG is used in conjunction or instead of plasma products. It is an intravenous man-made blood product that can help to regulate the immune system.
Steriods, such as Predisone, is also sometimes effective but can lead to increased blood pressure in HUS patients. Use of Steriods should be used under very close care.
> Blood Pressure Medications. Because of damage of the kidneys, nearly all HUS patients will need some kind of blood pressure medication. Managing the blood pressure is critical to keep the heart and kidneys from being stressed.
IVs and Lines Accessing a patient’s veins can be one of the most stressful times for the patients and the family. In order to treat the disease, doctors must have quality IV lines to use. There are a large variety of IV lines such as a standard IV, a pic line, or long-term central line. Some lines can be started from a simple vein prick to a surgical operation. The line type will be determined by the treatment needed, platelet level, patient health, and doctor preference.
No matter the type of IV line, it is imperative that STERILE PROCEDURES are implemented each and every time the line is accessed or de-accessed. A blood infection from a line is just as dangerous as the disease itself. Please see the Line Care Forum.
Labs (Bloodwork) Lab results can be confusing in the beginning, but it is important for parents and patients to learn what they mean. Ask lots of questions! The determining factors on starting, slowing down, or stopping treatments depend on lab work.
These are some of the most common lab values that are monitored with atypical HUS patients:
Hemoglobin, Hematacrit (H&H) and Red blood count (RBC): These measure the amount and quality of the red blood cells. Low values mean anemia.
White blood count (WBC) High values can mean there is an infection.
LDH and/or Haptoglobin: Determines if the blood cells are being destroyed.
Platelets: Measures the blood’s ability to clot.
Creatinine: Creatiinine is a toxin that the kidneys help clear from the body. High creatinine levels mean the kidneys are not functioning normally. Children’s creatinine should be under or at the low end of the normal range.
Blood Urine Nitrogen (BUN): Measurement for how well the kidneys are functioning. Lower is better.
Protein in the urine: Measurement of kidney function. Poor functioning kidneys spill out to much protein.
Going Home
aHUS relapses can be severe. You may very likely be hospitalized from weeks to months in order to get a handle on the disease. When the doctors feel you/your child is healthy enough, they will begin to train you to care for yourself/your child at home and set up follow-up appointments/treatments. Unfortunately, not all doctors are familiar with the ferocity of this disease. It is important, that regular blood tests are completed, especially after the first episode. Every case is different, and no one can know how quickly the disease may come back. Frequent labs can detect another episode and protect kidneys from a severe relapse. Treatment should be started at the first sign of disease in order to prevent the kidneys from going through an additional assault.
*In the beginning, it is NOT recommended that you go several weeks before having lab work drawn. Labs can often show activity BEFORE symptoms occur. BE VERY PROACTIVE! We cannot stress this enough. Even if it has only been 1 or 2 days out of the hospital and you notice your child symptoms are returning, call the ON CALL doctor immediately...or go directly back to your hospital's ER. Do not wait for the follow up appointment.
If you do need to go to the ER
The Emergency Room typically does not have a lot of experience with HUS patients. When going to the ER, give a full account of the last attack, treatment & time spent in the hospital and any medications. It is important to try and bring any medications with you, because hospital pharmacies are often very busy, but before you give a med, be sure and check with the medical professionals first.
Doctor Info
As you browse through the forums, you will see that the longer the battle with this disease, the more complications that occur. Every attack can be potentially life threatening which is why we recommend you talk extensively with the doctors about all aspects of AHUS, refer them to this site and the other informational site. They can talk directly to doctors experienced in the disease on the doctor-to-doctor directory, we hope to include more doctors soon.
Genetic Testing
When blood levels are high enough, your doctors will want to send the patients blood away for genetic testing to find the cause of the disease, it may be one of several different genetic causes or may even include several genetic deficiencies and do not be surprised if no genetic abnormalities are found as around 50% of AHUS patients are idiopathic, (unknown). Genetic testing can take weeks to months. Treatment should not be held until testing is complete.
We recommend they send the blood work to the University of Iowa under the direction of Dr. Smith. This lab currently does the most comprehensive testing availiable.
Now, Welcome to the Family of The Foundation for Children with Atypical HUS...it can be a scary, bumpy ride, but we are here for you, we will be the first people whose eyes won't glaze over when asked how is the patient and you begin to talk about LDH, RBC, WBC, ect.!
Please remember, this article was written by parents—not doctors. We are not trained medical professionals. There are many things we have not covered or included. These are only meant to give you a base of knowledge as you begin your journey.
So the doctors have diagnosed your child with Atypical HUS, now what?
So, you or your child's symptoms have led you to the doctor or straight to the hospital. Symptoms may have included extreme fatigue, puffiness, vomiting, paleness, fever, and perhaps some diarrhea. It is possible that you noticed swelling as well as dark or strong smelling urine. Your child's appetite may have completely vanished and you are struggling to get them to eat.
Now you are hearing terms like schistocytes, blood smears, red blood counts, white blood counts and protein in the urine! What does it all really mean?
Types of Hemolytic Uremic Syndrome (HUS)
There are two types of HUS; typical HUS (caused by Ecoli), and Atypical HUS (caused by an unknown reason, genetic mutation, or other illness).
> HUS (Typical HUS) Typical HUS, is can be triggered by exposure to Ecoli. Ecoli can cause an immune system response that causes hemolysis (shattering of blood cells) and kidney failure. In typical HUS, most cases will not reoccur after initial occurrence (typically lasting 4-6weeks). Cases can see long-term kidney damage and issues with high blood pressure.
> atypical HUS Atypical HUS can be triggered for a variety of reasons such as a genetic mutations, pneumonia, gastro-intestinal illness—as well as unknown reasons. The biggest difference from typical HUS is that this form of the disease is unpredictable and can and will relapse or reoccur frequently. Each case is different. Some cases will relapse intermittently--triggered by a virus--while others never truly reach remission. Some relapses are relatively mild and easily controlled while others come on devastatingly quick.
What is happening to the body during the attack?
The blood cells are breaking apart making tiny microscopic clots and cell fragments that travel to the kidneys and cause severe anemia and kidney failure. When the kidneys fail to work, the body fails to rid itself of toxins, the urine output declines, and the amount of protein in the urine will increase. This process can permanently damage the kidneys. Poor functioning kidneys also lead to high blood pressure and swelling which can stress the heart and lungs. In rare cases, blood clots may develop somewhere else in the body.
About the Doctors
Atypical HUS is a very rare disease. Having knowledgeable specialists is critical for successful treatment. Most likely other doctors and specialists will be consulted with but typically these are the doctors that will be primarily involved in a aHUS case:
> Nephrologists are experts of kidney diseases. This doctor will monitor kidney function, electrolytes, blood pressure, disease activity, and dialysis (when necessary). Kidneys are very sensitive and difficult to manage. This doctor should be heavily involved in a patient’s treatment.
> Hemotologists is an expert in blood diseases. This doctor will closely monitor HUS activity and the function of the body’s blood. This doctor is also often an Oncologist which specializes in cancers and other blood diseases.
Treament Types
> Blood Transfusions: Some kind of blood product transfusion is almost always the first line of treatment. Typically, patients are admitted with low red blood cell and platelet levels. Depending on a doctor’s decision, a patient may receive packed red blood cells, whole blood, and/or platelets in order to stabilize their current situation. These products help return the blood to a reasonable level but do not treat the disease. When blood products are given, doctors have to closely manage fluid levels in the body. If the kidneys are not properly working, the extra fluid can cause stress on the heart and lungs.
> Plasma Therapies including Plasmapheresis (Plasma Exchange) and FFP (Fresh Frozen Plasma). Plasma therapy is the most traditional way to treat aHUS. By transfusing healthy plasma (FFP) into a patient, it can help supplement what the patient’s body is missing. Plasma can be thought of as “the glue that holds the blood together and prevents the blood from shattering.” Some cases do not respond or are sensitive to extra fluid, so “Plasma Exchange or Plasma Pheresis” is used. This process filters out all of the body’s original plasma and replaces it with healthy donor plasma. This process is more invasive but also can help to get control of the disease faster. Patients with genetic mutations respond especially well to plasma therapies.
> Soliris--Eculizumab
For the first time, there is a new treatment for the disease called Soliris. Soliris is an IV medication, given intravenously on a routine basis. Even though this drug is not yet FDA approved for treatment of the disease, many case are currently being treated very successfully with this medicine. Some are seeing a long-term remission for the first time as well as increased quality of life and kidney function.
See the Soliris forum and read more about the miraculous effect this drug is having on patients, especially if given soon, can prevent long-term damage to the kidneys. Soliris is a very new medication and not many doctors know much about it. Ask if it is a potential for your case.
> IVIG (Intravenous immune globulin) and steroids. Some patients who do not respond to plasma products may respond to treatments that target the immune system. Sometimes IVIG is used in conjunction or instead of plasma products. It is an intravenous man-made blood product that can help to regulate the immune system.
Steriods, such as Predisone, is also sometimes effective but can lead to increased blood pressure in HUS patients. Use of Steriods should be used under very close care.
> Blood Pressure Medications. Because of damage of the kidneys, nearly all HUS patients will need some kind of blood pressure medication. Managing the blood pressure is critical to keep the heart and kidneys from being stressed.
IVs and Lines Accessing a patient’s veins can be one of the most stressful times for the patients and the family. In order to treat the disease, doctors must have quality IV lines to use. There are a large variety of IV lines such as a standard IV, a pic line, or long-term central line. Some lines can be started from a simple vein prick to a surgical operation. The line type will be determined by the treatment needed, platelet level, patient health, and doctor preference.
No matter the type of IV line, it is imperative that STERILE PROCEDURES are implemented each and every time the line is accessed or de-accessed. A blood infection from a line is just as dangerous as the disease itself. Please see the Line Care Forum.
Labs (Bloodwork) Lab results can be confusing in the beginning, but it is important for parents and patients to learn what they mean. Ask lots of questions! The determining factors on starting, slowing down, or stopping treatments depend on lab work.
These are some of the most common lab values that are monitored with atypical HUS patients:
Hemoglobin, Hematacrit (H&H) and Red blood count (RBC): These measure the amount and quality of the red blood cells. Low values mean anemia.
White blood count (WBC) High values can mean there is an infection.
LDH and/or Haptoglobin: Determines if the blood cells are being destroyed.
Platelets: Measures the blood’s ability to clot.
Creatinine: Creatiinine is a toxin that the kidneys help clear from the body. High creatinine levels mean the kidneys are not functioning normally. Children’s creatinine should be under or at the low end of the normal range.
Blood Urine Nitrogen (BUN): Measurement for how well the kidneys are functioning. Lower is better.
Protein in the urine: Measurement of kidney function. Poor functioning kidneys spill out to much protein.
Going Home
aHUS relapses can be severe. You may very likely be hospitalized from weeks to months in order to get a handle on the disease. When the doctors feel you/your child is healthy enough, they will begin to train you to care for yourself/your child at home and set up follow-up appointments/treatments. Unfortunately, not all doctors are familiar with the ferocity of this disease. It is important, that regular blood tests are completed, especially after the first episode. Every case is different, and no one can know how quickly the disease may come back. Frequent labs can detect another episode and protect kidneys from a severe relapse. Treatment should be started at the first sign of disease in order to prevent the kidneys from going through an additional assault.
*In the beginning, it is NOT recommended that you go several weeks before having lab work drawn. Labs can often show activity BEFORE symptoms occur. BE VERY PROACTIVE! We cannot stress this enough. Even if it has only been 1 or 2 days out of the hospital and you notice your child symptoms are returning, call the ON CALL doctor immediately...or go directly back to your hospital's ER. Do not wait for the follow up appointment.
If you do need to go to the ER
The Emergency Room typically does not have a lot of experience with HUS patients. When going to the ER, give a full account of the last attack, treatment & time spent in the hospital and any medications. It is important to try and bring any medications with you, because hospital pharmacies are often very busy, but before you give a med, be sure and check with the medical professionals first.
Doctor Info
As you browse through the forums, you will see that the longer the battle with this disease, the more complications that occur. Every attack can be potentially life threatening which is why we recommend you talk extensively with the doctors about all aspects of AHUS, refer them to this site and the other informational site. They can talk directly to doctors experienced in the disease on the doctor-to-doctor directory, we hope to include more doctors soon.
Genetic Testing
When blood levels are high enough, your doctors will want to send the patients blood away for genetic testing to find the cause of the disease, it may be one of several different genetic causes or may even include several genetic deficiencies and do not be surprised if no genetic abnormalities are found as around 50% of AHUS patients are idiopathic, (unknown). Genetic testing can take weeks to months. Treatment should not be held until testing is complete.
We recommend they send the blood work to the University of Iowa under the direction of Dr. Smith. This lab currently does the most comprehensive testing availiable.
Now, Welcome to the Family of The Foundation for Children with Atypical HUS...it can be a scary, bumpy ride, but we are here for you, we will be the first people whose eyes won't glaze over when asked how is the patient and you begin to talk about LDH, RBC, WBC, ect.!
Please remember, this article was written by parents—not doctors. We are not trained medical professionals. There are many things we have not covered or included. These are only meant to give you a base of knowledge as you begin your journey.
Views: 26
Comment
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Comment by Christy on January 23, 2010 at 1:14am -
Very nicely done! :) Great info!
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Comment by Svetlana Finley on January 15, 2010 at 12:45pm -
Thanks for the overview!! It is awesome!!
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Comment by Jessica Olivia Frysz on January 14, 2010 at 12:46pm
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I would say that my mom would be saying "where was all this when Jess first got sick?" We didn't have a lot of this information, they just sort of pulled this disease out of mid-air if you, they thought I had one disease and then looked at my cells again, saw they were hemolyzing....so, that gave a very distinct clue. A lot of this mumbo jumbo I knew right off the bat, because I actually had to perform a CBC (complete blood count) on animal blood and sometimes saw schistocytes which are little fragmented blood cells. In little amounts it's not harmful to any patient animal or human, but in large amounts it means inflammation is happening somewhere in the body :) It helps to be medically smart in both spectrums :D
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Comment by Phyllis Ann Talbot on January 14, 2010 at 8:42am -
This is FABULOUS!!! I SO wish I'd had this when we first got sick - but I'm excited to send this to several family and friends that I've never been able to explain all aspects to so well. I wonder if there's a way to have this posted a different way so that it won't get lost as people add new posts? Anything to make it easier for newly diagnosed kids/parents to find? Thanks again!
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Comment by Linda Burke on January 13, 2010 at 7:52pm -
A wonderful overview of some very important areas of concern- thanks for your concise and practical approach to the 'aHUS Basics for Parents' !
WELCOME - Friends, Family Members, Patients, and Researchers - JOIN US!
The Foundation for Children with Atypical HUS encourages patients and investigators to share information and explore options/resources as we work together to gain insight into this rare complement disorder. By increasing contact opportunities with researchers and medical personnel interested in helping the aHUS community, our stories foster a better understanding of atypical hemolytic uremic syndrome.
Sharing information, inspiration and support for one another, we seek to gather together people and knowledge as we strive to improve the lives of patients and families dealing with a diagnosis of aHUS.
NEW DIAGNOSIS OF aHUS?
Be proactive! Get the medical basics of aHUS, what lab values to monitor, and areas of concern...check out the "aHUS Bootcamp" and "About aHUS" tabs at the top of this page!
If your doctor has never treated a case of aHUS, please print out our 'Doc to Doc Registry' and ask him/her to contact a physician versed in the complexities of aHUS and new options for 2011 genetic testing and treatment.
************************
NOTE: Our 'Send a Message" function on each Member's page allows for private discussion of personal content. As with any social network, be cautious about giving personal contact information (home email info, phone number) until you have an established relationship with another person, organization, or associated website.
Did you know...
CFH (Serum Complement Factor H) is a regulatory protein. The secreted protein product of CFH consists of 20 repetitive units named "short consensus repeats" or SCRs (each approximately 60 amino acids). In patients with aHUS the last 5 "pearls" in the twenty pearl strand protein, SCR16 - SCR20, should bind to protect cells but do not- they are defective in one or more of the last 5 SCR locations. If they cannot bind or stick to the kidney to protect that tissue, the platelets clump into clots that affect the glomeruli of the kidney -potentially causing acute renal failure.
• • • • • • • • • • • •
It is estimated that there are about 300 cases of aHUS in the U.S., and it is most common with young children. The condition is life threatening and either can be chronic or can recur at intervals.
more factoids...
• • • • • • • • • • • •
It is estimated that there are about 300 cases of aHUS in the U.S., and it is most common with young children. The condition is life threatening and either can be chronic or can recur at intervals.
more factoids...
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