Madeline's Story   

Madeline Rose was born on December 29th a healthy baby girl weighing 8lbs 14 ounces. She was a sweet little girl, always happy. We were so blessed to this new addition to our family.

At around three months old, we realized there was something not quite right with our beautiful little girl.She began to experience wheezing, heavy chest congestion, weekly upper respiratory infections, lots of ear infections, high fevers, diarrhea, strange rashes, pale skin, fatigue and she would get these really puffy eyes with dark circles underneath them. She seemed to get every cough and cold that would go around. Something was wrong. No one seemed to have any great answers for us. Maybe she had allergies, maybe she will just grow out of it as she gets older and her immune system matures, they would say.

At one year of age she began to fall off of the growth chart and that is when we really began to search for some answers. We began seeing a great gastroenterologist who ran numerous tests on her from colonoscopy, endoscopy, barium swallow study and lots and lots of blood tests. The tests were off, but nothing really seemed to fit he would say.

Finally shortly after her second birthday while on the last day of an antibiotic for an ear infection, she spiked another fever of 103. That was it, something was wrong and I needed answers! I called the Children’s Hospital and asked if there was an immunologist on call. When I was told there was, I told the lady on the phone to expect me in about 30 minutes.

Upon arriving at the hospital, I gave the doctors a very detailed history of my daughter including all of her ER visits and long lists of specialists we have been to. I also gave her a packet of papers in which I had been keeping track of all her symptoms over the last two years.

That’s where things started to change. Upon leaving the hospital one week later due to her being very ill, her immune system was checked and again, more blood tests were performed. Two months later, we got the phone call from her immunologist. She has an autoimmune disease called TRAPS. Now I can see why it was abbreviated. He says this stands for Tumor Necrosis Factor Receptor Associated Periodic Disorder. He explains this means that the mechanism in her body that is supposed to regulate inflammation is broken causing too much inflammation in her tiny body. This caused all her frequent infections and stomach problems he says because 50% of her immune system is located in the stomach.  All the wheezing and upper respiratory symptoms were due to the inflammation in her tiny little lungs said her pulmonologist.

My husband and I were told that this is a very rare disease and currently there are fewer than 100 documented cases. There is no cure for TRAPS and the medications to treat the disease are all considered just trial.

The first medication we were given was called Colchicine. This I was told is pretty ineffective for the disease, but in a small number of cases does help. It didn’t help Maddy. Shortly after taking the medication, her fevers were higher than ever, and she had terrible stomach pains. She was miserable. Finally we got our appointment with the rheumatologist. They are the ones that can prescribe and properly dose out the Enbrel injections that seem to help the most for this disease. I am told it works by blocking Tumor Necrosis Factor which is what is causing her inflammation. This is a very serious thing they say, as it suppresses her immune system leaving her open to developing serious infections with her already compromised immune system and her being so little. With the doctor’s instruction, I begin to give the injections weekly in her upper leg. She hates them and cries all of the time. Finally I learn about Emla numbing cream. Things are going more smoothly now. In what seems to be only a few weeks, something strange happens. Madeline seems to wake up and come to life in a way in which we have never seen in her before. Her three week long episodes of high fevers, daily abdominal issues, rashes, puffy eyes and weekly infections have disappeared. I cannot explain how happy that moment was in our lives, to finally have her feeling good!

After being on the medication for four months, we did have to up her dosage, as her symptoms began to creep back in however; I have high hopes for this medication. I do hear that the disease changes over time as it is a polymorphism type disease. The medicine may not work for ever, but I am very optimistic that the doctors will find out much more about how to treat this rare disease and maybe even one day find a cure.