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.

The Presentation

This is the persentation that I did at Ridgeview Medical Center. I will add the speaker notes in the next post.

Presentation

On Dec. 16th I had the privilege to give a presentation to the staff of 2 medical at Ridgeview Medical Center about Lucas and TRAPS. It went very well and soon I hope to have it up online for others to read and learn from.

Going beck to September

In September Lucas was able to start preschool at Watertown Mayer. He seems to really like it and has not had to miss to may days due to illness. We decided to let him try school and see if his body would let him do it.
Lucas is receiving help at school through special ed and a group of wonderful people. They have set up a plan to help him throughout the year so that he can have all the experiences of a normal child. HE gets really upset when he has to miss a day, but it is going well.

Update

Okay so instead of trying to find time to get all of Lucas' medical history on here. I have decided that I need to just work on updating everyone about how he is doing currently. This way I will not fall further behind. We have been so busy that nothing is getting done.
So the first thing to update about is that Lucas experienced his first surgery in October. He has to have dental surgery. He now does not have his two front teeth and has many fillings and caps to get him through until his permanent teeth come in. Hopefully these teeth will be strong because he will not have to be on so many antibiotics anymore. He did well with this and now daddy has nicknamed him fang. He likes to show off his missing teeth.

                                                                           Before

                                                                      Right After Surgery

The New Look

Last week Lucas developed fevers of up to 105 again. We took him into the er and found out he had pneumonia. HE was put on antibiotics and sent home. It was a long had week of fevers and doctors visits but I think he has now turned the corner and is starting to feel better. He still is very tired and runs low grade fevers, but this is much better than a week ago.
We are busy getting ready for Christmas in our house so it is crazy like always. I will try to get a few more updates done about his last few months. I can make no promises though as everything is always so busy.

Lucas' Doctor

Lucas is being treated for his TRAPS at the Pediatric Specialty Clinic at the University of Minnesota. He sees Dr. Bryce Binstadt there. The following is a link to a page about Dr. Binstadt.
http://www.umphysicians.umn.edu/FindaPhysician/phys_4432.htm

TRAPS What is it?

TRAPS stands for Tumor Necrosis Factor Receptor-Associated Periodic Syndrome. It is a rare autosomal dominant disorder characterized by prolonged episodes of periodic fever and erythematous macules, patches, and edematous dermal plaques. The skin eruption usually lasts for 4-21 days (mean 13 days). There are numerous other systemic signs and symptoms associated with the syndrome including:




Conjunctivitis




Periorbital edema




Abdominal pain




Myalgia




Arthralgia




Pleuritic chest pain




Headache

This picture is how Lucas looked, when we first realized this was something more than him just getting sick all the time.