Something isn't right: How i knew my child was Ill

The following is a special post describing how a parent realized something isn't right --  and how that parent knew her child was ill and suffering from a health condition she had never heard of before. This is the first post of a series of posts written by Laura, Kelly's Mom, sharing her perspective as a caregiver and parent.

One year around the holidays, my family and I took a vacation to Disney World. On one of our last evenings, my daughter Kelly (who was 14 at the time) asked if she could stay in the room instead of going out with us for dinner. She wanted to order room service and watch television in bed -- rather than run around the most magical place on earth.

It was at this point that I suspected something wasn't quite right.

As I started to reflect on the last couple of months, I realized Kelly had spent most of the Fall fighting a swollen gland, several different colds and left shoulder pain.  Kelly, a year-round competitive swimmer since the age of 8, was like the Energizer Bunny.  She usually went from early morning to night without any cares in the world. Suddenly she wasn't making it through the day without a nap. She had trouble finishing swim practices.  I even found out much later on that Kelly stayed behind on a ride in Epcot because she saw a sign that read “if you are experiencing chest pain, please do not ride”. 

Putting these clues together, I knew something wasn't right. I started to wonder if my child was ill -- and, if so, from what. Once we made it home from our trip to Disney World, I took Kelly to one of our primary care providers. 

At this appointment, we were alarmed to find that Kelly weighed 82 lbs... down 5 lbs. from her yearly physical just 6 weeks prior.  Blood work was quickly ordered and we realized that Kelly was anemic and her SED and CRP rates were extremely high.  This was my first (but certainly not last) encounter with SED and CRP rates, which are both inflammation markers. 

These tests told us that there was inflammation somewhere in Kelly’s body. The problem was that nobody knew where. We had to figure out just what was causing the inflammation, as it could be anything from stress, to autoimmune disease, to cancer.
 
After a repeat of blood work a few weeks later (ordered and read through our primary care doctor), Kelly continued to experience high levels of inflammation in the body. Because of this, Kelly’s primary doctor called to say she had ascertained appointments at Johns Hopkins with a Hematologist and a Rheumatologist on the same day.  The appointments were scheduled for the following week. 

My first thought was that Kelly has midterm finals next week! She can't go to two appointments in another city.  My second thought was that appointments made with Hopkins doctors so quickly must mean things are serious.

Something wasn't right. It couldn't be right. Was Kelly ill? 

It was less than a week that we waited for our appointment date at Hopkins, but it seemed like much longer.  When I shared my anxiousness about getting appointments with two doctors at Hopkins so quickly (thinking Kelly’s primary must believe something is really wrong), my sister gave me another way to look at it.  She said how fortunate we were to be able to get in so quickly as some patients wait much longer or never get in to see a Hopkins doctor at all. Looking at the situation like this helped me make it through until we actually went to see the Hematologist and Rheumatologist.

Both doctors at Hopkins were wonderful.  They took their time examining Kelly, taking tubes of blood, talking to Kelly and to her father and me.  Kelly was thin, but on the surface looked like an ordinary 14-year old in her first year of high school. I remember at one point the word cancer was brought up and Kelly, looking straight at the doctor, asked if that's what she had.  The response “it’s possible, but not probable” is one I will never forget... nor will I forget the look on Kelly’s face as she pondered that answer. It’s been more than 13 years since that first double appointment at Hopkins, but I remember it so vividly. I desperately wanted to protect Kelly - but how and from what? 

We left Hopkins that day feeling better that we now had two more doctors in Kelly’s corner, but totally without answers as to why Kelly’s inflammation markers were so high.  The testing and waiting continued. That evening, we received a call from the Hematologist saying he looked at Kelly’s blood under the microscope and all appeared normal. A few days later, more blood results came in and we were told her blood count was rock solid, remarkably stable. The doctor told us that he has seen a lot of Leukemia and did not suspect that in Kelly’s case.  I felt like we dodged a bullet, but something still was not quite right.

After conferring, the doctors decided to start Kelly on Naprosyn 3 times a day in hopes of bringing the inflammation down and helping Kelly feel better.  At least that was the plan! This plan of action went on for a month with no relief to Kelly. In fact, the chest pain increased and back pain started. Kelly could not get comfortable to sleep at night and then she struggled to stay awake in school. Swim practices were almost impossible. Our little Energizer Bunny had practically disappeared. Yes, we knew something was wrong, but what? We felt helpless at a time when our child needed us most. 
 
After a month of Naprosyn and with no improvement, the doctors continued to order tests in hopes of finding the cause of the inflammation. One such test was a CT scan of the abdomen and chest. On a Friday at 6:00 pm, just a few hours after Kelly had the CT scan, we received a call from the primary doctor on call.  Preliminary results of the CT scan showed some thickening of the wall of the blood vessels (one or more including Aorta) in her chest. His thought on the next 3 steps were (1) alert all involved; (2) proceed with echo cardiogram of heart (maybe on Monday at Hopkins); and (3) give thought to use of steroids to bring down inflammation.  When I asked the doctor if I should feel better about these findings, he said absolutely. He said it was reassuring that the CT did not show a mass, which was something they wanted to rule out. 

It was a very long weekend of searching on the internet and trying to make sense of what thickening of the Aorta blood vessels might mean.  Everything seemed to point to something called Takayasu’s Arteritis, but that mostly affected Asian women in their twenties or thirties. On top of that, only 2 to 3 cases occurred each year per million people.  Could this possibly be the something not quite right that we were searching to find?

After two months of waiting to find out what was causing Kelly’s pain, tiredness and inflammation, we only had to wait a couple more days.  On Monday, we took the CT scan to Hopkins and had the chance to speak with the Hematologist. After conferring with the radiologist at Hopkins, the doctors confirmed Kelly had Takayasu’s Arteritis (TA).  At that point, she became the youngest at Hopkins Pediatric Rheumatology to be treated with TA. 

Kelly's "not quite right" was Takayasu’s Arteritis.  There was relief at finally having at least one answer, but then the diagnosis questions began to mount.  What exactly is Takayasu’s Arteritis?  Is it curable?  How is it treated?  The course of Kelly’s life changed that February, and so did mine.