Tuesday, January 4, 2011

What was said

Here is what I said with the presentation.

Introduction- Slide 1


Hello, my name is Ellen Dreier and thank you for having me here today. I am here to speak about a disease that had largely affected both my life and that of my family. Tumor Necrosis Factor Receptor Associated Periodic Syndrome is a rare genetic disease that I have had to deal with sense the age of 10 when I started to have symptoms. That was originally diagnosed as JRA. 15 years later, after my son Lucas became very ill. I found out that what I have, what he has is actually something very different; TRAPS. Throughout this presentation I will attempt to explain this disease and just how it has affected me and my growing family.

Slide 2-

So many of you are probably asking the same question I did when I heard this diagnosis. What exactly is TRAPS? Let me tell you, I found out the answer to this question is not so easy to answer. I have spent many hours and sleepless nights to come up with the few answers I do have. So now I have made it my personal mission to help others learn about this disease, reach out to others in the same situation, and to help other find the answers they are looking for. Tumor Necrosis Factor Receptor Associated Periodic Syndrome or TRAPS as it is commonly referred to is a genetic defect that is located in Chromosome 21. This mutation creates a defect in a protein known as Tumor Necrosis Factor Receptor (TNFR). This protein is one that causes inflammation in the body.

There are many different symptoms that can be caused by TRAPS. These range from rashes to joint and muscle pain. All of these symptoms come and go, and in many cases it is not the same every time. One week a person can have a rash and the next week it could be done, and then the following week if could be a series of fevers. This is a very unpredictable disease to live with. Most of these symptoms are considered viral or bacterial infections and are treated as such. Thus it makes this disease extremely hard to diagnose.

Slide 3- History

The history of TRAPS is short and without detail. Sense TRAPS is rare and has just recently been discovered it is hard to find definitive information on the history of it. What I have learned is the first cases of TRAPS were reported in patients form Irish-Scottish ancestry; however the disease has also been identified in other populations such as French, Italians, Americans, and Arabs. For many years TRAPS has been identified by many other names such as Familial Hibernian Fever and Benign autosomal dominant familial periodic fever. To date there are minimal studies on the effectiveness of treatments in a large group of participants. At this time there is not treatment or cure for the disease, there are only treatments or drugs to help relieve the symptoms caused by the disorder.

Slide 4- Etiology

So then what causes this disease? The etiology of TRAPS could be considered unknown. However, specialists do know that TRAPS is caused by a mutation of a specific gene. It is still unknown why this gene mutates to cause this disease, even thought there has been research done on this matter. The gene mutation that causes TRAPS is located within Chromosome 21. Chromosome 21 is made up of two different parts, on that comes from the mother and on that comes for the father.

TRAPS is an Autosomal dominant Disorder, unlike more commonly heard about genetic mutations such as Cystic Fibrosis and Sickle Cell Anemia. This means that only one damaged gene is required to inherit this disorder. If an individual is diagnosed with the disease, they have either inherited a defective gene from one of his or her parents, or the defective gene was created in the child. In the genetic mutation that causes TRAPS, if one parent has this mutated gene, their children have a 50% chance of having the same genetic mutation.

Slide 5- Symptoms

So now know a little bit about the disease the next question that comes to mind is how does a person know if they have TRAPS? There are various symptoms that are associated with TRAPS, however many of these are associated with other illnesses and diseases as well. This is what makes TRAPS so hard to diagnose. Another thing that makes this hard to diagnose is the fact that a person may not have all of these symptoms, they may only have one or two of them. The main symptoms that are present with TRAPS are fevers and rashes, these can show up and last anywhere from 4 to 21 days. Besides these two main symptoms that are many more that can occur in an episode of TRAPS these include conjunctivitis, Periobital edema, Abdominal pain, Myalgia, Arthralgia, Pleuritic chest pain, and headache. Along with these symptoms there are many different infections that can occur do to a compromised immune system. These can become worrisome when they seem to be strange infections such as Scarlett Fever and abnormal amounts of the same infection like Strep Throat and Pneumonia.

Slide 6- Misdiagnosis

With all of these symptoms and it is easy to understand just how easy this disease can be misdiagnosed. All of these symptoms can be explained by another illness or disease. TRAPS is frequently misdiagnosed. Many times it is diagnosed as Juvenile Rheumatoid Arthritis, because of the joint pain and swelling. It can also be diagnosed as viral or bacteria infections because of all the symptoms that can accompany this disease. Another way this can be misdiagnosed is as growing pains, as the muscle pain can mimic this type of pain.

Slide 7- Treatments

Now that we know what the disease is and how it can affect a person’s body, the next logical question is how is TRAPS treated? This again brings up another problem. There is no definitive treatment for the disease at this time, but TNF inhibitors have been known to successfully treat the disease. NSAIDS or nonsteroidal anti-inflammatory drugs can help to ease the symptoms, but are mainly effective in mild attacks. It is an anti-inflammatory drug that is beneficial in controlling fever, but not abdominal or musculoskeletal symptoms. TNF blockades or non-inhibitors are useful in treatment also when given at the start of an attack. Steroids can also be helpful but prolonged usage is not recommended. Etanercept is a class of medications called TNF inhibitors. It works by blocking the activity which causes inflammation in the body. It may decrease the ability to fight infection from bacteria, viruses, and fungi. Glucocorticoids are effective for inflammatory symptoms, however it does not prevent future attacks and the use of excalatory doses is limited by toxicity.

Slide 8-Living with TRAPS

To explain living with TRAPS to a person with no knowledge of this subject can be hard. It can involve many factors that can affect all areas of a person’s like. Imagine being the parent of a small child who has been sick since the day he was born. Going to and from the doctors weekly, sometimes daily to try and get him the help he needs, just to be sent home with the doctors telling you he has a cold, virus, or infection. Then returning again for more symptoms that arise. How would you as a parent react? Now after years of this and taking so many antibiotics that his teeth have started to rot out of his mouth, he receives genetic testing. After waiting six weeks for an answer you are told that your child has a rare genetic mutation that is the cause of all the problems. Tumor Necrosis Factor Receptor Associated Periodic Syndrome (TRAPS) is the name they have given you. So now what does this mean to you as a parent, and your son as a growing boy?

Controlling Medications are needed to help with the inflammation build up in his body. This can mean weekly injections of a drug called Enbrel. If this treatment is not given there is a chance that over the years the inflammation build up in his body can cause organ failure and lead to the possibility of death. This is a very scary possibility for a parent.

Frequent testing is needed to check for many different infections and also to check the immune system to see if the little boy will need to have vaccine boosters. Due to this disease and by taking Enbrel, which is an immune suppressant drug, infections are very likely and are worse for someone in this situation. This can prevent this child from having many of the experiences a normal child would have, including going to school, which many not be possible due to the many days of sickness and the exposure to all the germs brought into the school setting.

There is not cure for TRAPS, this can be a hard factor for all ages to deal with. This means that a person with TRAPS will have to be on medications for the rest of their lives.

As one gets older family planning will come into play. This genetic mutation is able to be passes on to a child, with only one parent having the disease. There is a 50% chance of having a child with the disease if you as a parent have it. This is something that will have to be considered when thinking about having a family, is this something you think you can deal with as a parent or not?

These are just some factors that a person has to deal with on a regular basis with this genetic mutation.

Slide 9- Diagnosing

Okay so now we know what the disease is, how it affects the body, and how to treat it. There is one more question that we need to answer and that is how can it be diagnosed? The testing procedure for TRAPS is actually fairly simple once a doctor has decided that TRAPS is a possibility. Unfortunately, because the disease is rare and shares symptoms with 10 other different diseases an individual may be hard to diagnose, so attempted treatment may not be administered timely. Thus, years may go by prior to an individual finally being diagnosed with the disease. After consulting with a specialist, they refer the patient to a genetic counselor, who then orders genetic testing. For a patient this is a matter of having blood drawn and waiting for the results from the lab. If the doctor’s are not sure which gene is mutated they will do a complete genetic blood work up, which will show any mutations that a person can have. It can take up to six weeks to receive the results of the initial genetic test.

Slide 10- Affected Population

So we have many answers to the most common questions that one would have, but there are a few yet that should be addressed. Who is the most at risk for this disease? Originally, TRAPS was found to affect individuals of Irish-Scottish descent, but more recent cases have found to affect individuals of various backgrounds.

Specifically, individuals who have been diagnosed with the disease either inherited the defective gene from either one of the individual’s parents. Since only one copy of the defective gene is needed to be passed on, or the defective gene was newly created at birth.

Slide 11- Reducing TRAPS Incidences

Due to the fact that TRAPS is a genetic mutation there is no cure for it. This means that there is no medical way to reduce the incidences of TRAPS. However the cases can be reduced with family planning. Genetic testing is available while the baby is in the womb, this would allow those parents to choose whether they want to raise a child with TRAPS or not, just as with other genetic mutations. This, as of right now, is the only way that TRAPS incidences can be reduced until the cause of this genetic mutation is discovered and a way to change the chromosome that causes it.

Slide 12- Economic Impact

TRAPS can cause large medical bills. The cost for genetic testing can range from $100 to more than $2,000 depending on the complexity of the tests.

The cost for treatment of TRAPS can be very high depending on the type of insurance a person has, and there are many drugs that may not be covered unless step therapy is completed. For many of the drugs that are needed to control the symptoms of TRAPS there are no generic forms available so that cost for the patients can be quite high even with insurance. For a 4 year old by weighing 30 pounds the cost of Enbrel without insurance is $970 at Target pharmacy. This is not including all the other medications that need to be taken when an infection arises or for the many doctor appointments that a person with TRAPS needs to go to.

Another impact of having TRAPS is missing out on work and school. There are many days, either school or work that a person with this disease can miss due to the different symptoms and illness associated with TRAPS. Parents with children that have TRAPS may miss a great deal of work as well, they have to stay home with their sick children and get them to all the doctor appoints that are required.

TRAPS no only affects the person that has this disease, but also their family and friends.

Slide 13- Lucas’s Story

Now that I have explained what TRAPS is I will show you just how it has affected my family, especially Lucas.

Lucas John Michael Dreier was born on March 16th, 2006. Everything went well and he was sent home. A few days later we noticed that he had become very yellow and brought him back to the doctor. He was then sent home with bili lights to help with the jaundice. From the day he was born Lucas has struggled with colds, coughs, full sinuses, and upper-respiratory infections. Over the course of Lucas’ 4 years of life he has had many infections, some of which have caused him to be in the hospital. The hardest one for him to deal with right now is strep throat, this almost always means being in the hospital for IV antibiotics.

Due to the infections and having TRAPS Lucas has had to do to the doctor a lot more than a normal kid. There are many times when he is getting what seems like a normal cold and it will develop into an infection. We have to take him to the doctor every time he seems sick to rule out infection. He also has to see his specialist once every three months currently. His name is Dr. Bryce Binstadt. This can change as Lucas’ symptoms do, but as of right now it is still every three months to evaluate him and make sure no changes need to be made to his medications.

Slide 14- His Eyes

Now I will go over a few key ways that Lucas’ body is affected by TRAPS and how you can see it affecting him. First up are his eyes. Lucas’ eyes can tell a great deal about how he is really feeling. It seems that this is the first area of his body affected when he becomes sick. The first sign is that he will get red around his eyes, they start to look as if he has been doing a great deal of rubbing them. This then turns into dark circles under and around his eyes. He looks like he has not been sleeping well when this happens.

It can be very hard to tell when Lucas is actually getting sick or if he is having an episode of his TRAPS. After watching him deal with this so long, it has become a little easier, though it is hard to explain, his eyes do look different when he is sick verses when he is having an episode.

Lucas also get frequent swelling of his eyes, this is not usually caused by an infection, but usually a symptom of his TRAPS, however when this does happen, we usually bring him into the doctor to make sure. When this happens the inside of his eyes also get red and he will complain that his eyes itch. We try very hard to keep him from doing this because it seems to make it worse.

Slide 15- Fever

Next up we have fever. This is the big one for Lucas, especially when it comes to attending school. One of the main symptoms of TRAPS is a fever. These fevers can last for many days and in some cases can be quite high. Lucas has personally had fevers up to 105 degrees. This is not common for him, he had an infection with this as well. However it is normal for him to run fevers up to 101 degrees with this disorder. We have been told by the doctors that if it gets above this we should bring him to the doctor to rule out infection. When he has a fever, it is not contagious it is just the way his body reacts. If does not mean that he is sick and for the most part he will continue on with his days like there is nothing wrong.

For normal people a fever is a sign that their body is trying to fight off an illness. For Lucas it can be very hard to tell the difference, it is a matter of knowing him and listening to him to find out if he is getting sick or if it is just his normal episode cycle.

Slide 16- Muscle and Joint Pain

Then we have muscle and joint pain. TRAPS affects a person’s muscles and joints, it acts a great deal like Rheumatoid Arthritis. Due to this Lucas does have trouble walking some days and complains that his legs or arms hurt. There are sometimes when the pain does not stop him, but other days he cannot seem to work through it.

Slide 17- Headaches

Lucas also gets headaches from his TRAPS. Some of this is from the muscle and joint pain in his neck. This is also a symptom of TRPAS so he can get them because of this. I truly believe that some of Lucas’ headaches can also be caused by stress, it is not easy to be sick and it will take a toll on the body. These are some days when Lucas just cries and says his head hurts and nothing can help him, and there are even some times when he cannot tell you want exactly is wrong.

Slide 18- Swelling

Lucas gets frequent swelling that is most of the time due to his TRAPS. This can happen in his face, hands, and any of his joints. He has had frequent swelling of his face and eyes lately that we have been told is most likely due to the TRAPS. It also does not seem to bother him, he just keeps on with his day. Lucas also has a lot of swelling dues to bug bites. He also get infections a lot from these , so we have to be careful when playing outside.

Slide 19- Rash

Lucas frequently gets a rash on many different areas of his body. When saw many doctors for this and tried many different treatments, going as far as lotion 15-20 times a day and then applying Vaseline at night before bed time. This dry is dry and scaly and looks a great deal like that of eczema. It can affect his truck, arms and legs. It is very itchy and can at some points get so bad that it can bleed. Since starting the Enbrel this rash does not seem to be to as extreme as it was before.

Slide 20- Infection

Infections are a major problem for Lucas and they can be dangerous for him as well. He can get them very easily from others that have viral or bacterial infections .this means we need to know right away if he has been exposed to an infection so we can get him treated quickly. These infections also last longer for him, this is because of the TRAPS and the medication he is on, his immune system cannot fight them off as well as a normal child can. Infections like strep throat and pneumonia can cause him to have to be hospitalized for IV antibiotics because the oral are just not enough to get him over it.

Slide 21- Heart Murmur

Earlier this year Lucas’ lips started to get a bluish tint to them, so while visiting Dr. Binstadt we talked to him about this. He listened to him closely and said that he could hear a murmur. He then sent Lucas for and Echocardiogram. We then found out that he currently has a slight murmur caused by inflammation in his heart. They have assured us that this is not currently anything to worry about, but that they will keep an eye on it. However on some occasions his lips will get a bluish tint and he will be tired.

Slide 22- The Treatment Plan

Now we know how Lucas is affected by TRAPS. Now I will explain how we are treating him. Lucas takes many medications right now to try and help him. Currently he gets an Enbrel injection every five days, to help control the inflammation. It seems to help some and we hope that it continues to do so. He also takes 1 and a half teaspoons of ibuprofen twice a day. This is given to help control his joint and muscle pain as well as his fever. Lucas also on occasion takes Tylenol in between the doses of ibuprofen for help controlling his fever, especially when he is sick. At his last visit with Dr. Binstadt he was put on prednisone to give to him when and if he face starts to swell again. We thankfully have not had to give this to him yet. He also received an Epi-Pen Junior incase the facial swelling causes his tongue to swell in which case we would have to inject him with the medication and get him into the emergency room. Along with all of this medication that he normally has prescribed to him he is also on many different antibiotics throughout the year.

Slide 23 and 24- Helping Lucas

There are many people that have worked very hard to help Lucas control his symptoms and to help him feel better. Dr. Hackett, saw Lucas a few times before being diagnosed and decided that he needed to be evaluated at the University of Minnesota. Dr. Lindor is his normal doctor that he sees whenever he get sick. She is very good about fitting him in when it is needed and is willing to take the time to sit down and figure out what is going on. Dr. Binstadt is the specialist that sees Lucas at the U of M. He went over all of Lucas’ medical records and is the one that came up with testing Lucas for TRAPS and his been treating him for it since. He currently sees Lucas every three months to do a check up and make sure he does not need his medications adjusted. Dr. Hope is a chiropractor that has seen Lucas many times and treats him for the symptoms he has. When Lucas is running a fever Dr. Hope is able to make it break within a matter of minutes, he seems to work wonders for Lucas joint and muscle pains, as well as his fever. Not only are there doctors that help Lucas but our family and friends have done many things to help him and to help provide TRAPS awareness. They help in giving his medication, taking care of him when he is ill, and providing moral support for us all when we need it.

Slide 25- Affecting Everyone

In order to help Lucas, we all will be affected. We need to be notified anytime he is exposed to someone that is sick. This is very important so we can get him treatment right away. Knowledge is going to be the best power we have to keep him healthy and safe so he can continue to be a normal kid. There are many precautions that need to be taken, first one is about illness and the second thing is when it comes to the normal cuts and craps that children can acquire while playing. These need to be cleaned right away and need antibiotic ointment, which needs to be applied or he will most likely get an infection. It is also important to let Lucas do what he can. He has gotten very good at this as he is learning how to deal with what happens to him. Awareness it the best thing we can do for Lucas and others that have this. Knowledge is power and we are working to educate as many people as we can about this disorder and how it can affect someone like Lucas and all those around him.

Slide 26- Things To Remember

Lets recap on just a few points that I would like you to take away with you today. TRAPS is a rare genetic disorder, with a limited history. This seems to make it very hard to diagnose and many times, because it is not know about, it can be misdiagnosed. It causes a great deal of physical and emotions stress to those that have TRAPS and their family and friends. There are many different symptoms that accompany this disease, all of which can be associated with other disease as well. There are very few treatments, all of which help to control the symptoms, but none that will cure it. This impact is large not only in money and bills, but also on a person’s body and their emotional stress.

Lucas is a very active little boy that unfortunately has to deal with this disease on a daily basis. There are many areas of his body that are affected by this disease. He also has to take many controlling medications to counter act all the symptoms. This involves many doctor visits and blood tests. All we wish is to have understanding of his disease and to continue to provide all the knowledge we can about this disease in order to help Lucas and all those others that find they have this genetic mutation. Lucas just wants to be a normal boy and tries very hard to be one, my hope is that with all the time and research we have put into helping him and reaching out to others that someday maybe we can find a way to help him fulfill all his dreams and allow him to be pain and symptom free.

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