Thursday, June 28, 2012

How Did We Get Here? June's Story, Part I (By Whitney)

PART I: February 2010-June, 8 months old.

It all started as a cold.

One morning, as I was getting June out of her crib, I noticed she had bad breath. That was weird, because normally her breath didn't smell like anything! As the day progressed, I noticed she was having difficulty breathing and was only breathing out of her mouth. And because she was still on the bottle at the time, June could only take a few big sucks and then she would gasp for air. Her temperature had also risen steadily for 24 hours, up to 104 degrees. We were doing what the nurses were telling us to do to treat her cold and fever.

The following morning, June's fever had dropped slightly so I felt a bit of relief. I sat down with her in my lap to give her a bottle. Soon after, she vomited it all back up. I called the nurse again and she thought it would be a smart thing to take June to the ER to treat her for dehydration. June was getting very weak. I drove her to the ER, and at every stoplight turned around to shake the carseat to make sure she was okay. She was barely moving or making any noise and it terrified me.

June was hooked up to an IV, given a chest x-ray, and tested for a urinary tract infection. Everything looked clear, and after some fluids she was able to sit up again. After 4 hours, we were sent home.

Soon after we got home, June vomited again. And it did not stop. We were instructed to give her teaspoons of Pedialyte using a medicine dropper. She kept some down so I felt better, then after several hours, it all came back up again. Called the nurse back. June was growing weak again, and she didn't even have the strength to sit up when vomiting. We were told to go back to the ER. It was midnight, I didn't want to go back and put June through that again. It had been a stressful morning, a long day, she just needed to get some sleep. So I was thinking, "we have to drive back there, hook up the IV again, more poor baby just needs to sleep." I truly thought she could keep a little liquid down and sleep it off, I didn't want to bother her; she was just so worn out. So I said to Tony, "Ok, if she throws up this teaspoon, we'll go." June threw it up, and off we went.

Her glucose had dropped to 23 (which we did not understand at the time, but later learned that one can lose brain function with a glucose level below 40). She was lifeless. I was fortunate enough to know the chief of the emergency room at our Children's Hospital, and he happened to have the midnight shift. We got VIP care. She had several tests done (what tests, I couldn't tell you, I was in a state of shock as nurses were running back and forth from our room). I was well aware, however, of our doctor administering a spinal tap on June. I bent over and cried my eyes out at the mention of meningitis. June barely made a noise when that huge needle went into her tiny spine, and that only told us how weak she truly had become. She had wires attached everywhere, and the sound of that damn blood pressure machine beeping still haunts us to this day!

June was admitted and we stayed at Children's Hospital for 3 days. The team of doctors could not figure out why she had gotten so ill, and so they boiled it down to a nasty stomach virus. All tests had come back negative (phew!).
When we got home, June had acted like nothing ever happened! Mommy and Daddy, on the other hand, needed about a week's worth of rest! went on.

How Did We Get Here? June's Story, Part II (By Whitney)

Part II: Spring/Summer of 2010

June was about 10 or 11 months old when, one morning while changing her diaper, I noticed that her tummy seemed darker. I didn't really think anything of it. My mom has a darker skin tone, so I thought she could be taking after her. (Tony and I are fair). Towards the end of April, her legs were starting to get dark. Pittsburgh in April is still pretty cool, so I knew this was not from the sun. Getting into May, her legs were getting darker, tummy still a little dark, and her arms were now getting dark. Everywhere we went, and I mean e.v.e.r.y.w.h.e.r.e I would hear either, "Wow, she is so tan!" or "I guess you were just at the beach!" I am not exaggerating when I tell you that I probably heard this at least three times a day. I was close to making a t-shirt stating, "She is NOT tan!" and save myself the explanation.

As we got into the month of June, June's legs were even darker. As she sat in my lap in her onesie, her legs against mine, I just stared in complete awe of her skin tone. People had asked me if we spent a lot of time in the sun, or if the sun was hitting her legs while in the stroller. I think what they really wanted to say was, "don't you put sunscreen on your baby?" (One person asked me if she was eating a lot of carrots!)

In July was June's check-up with her pediatrician. I always go in with a list of questions, no matter how silly they seem. My mom kept asking me whether or not I was going to mention her skin at the appointment. I mean, yes I was going to, but I felt kind of silly doing so. Afterall, it was July 1, and we had just gotten home from a week in Phoenix. This doctor is going to look at me like I have two heads!

During the Q&A session of the appointment, I sheepishly asked, "Ok, her skin tone. She is really dark. Could I be missing something, or is this just her skin tone?" June's pediatrician did not look at me like I had two heads. Instead, he scribbled something down, told me not to Google it, and sent us to a pediatric dermatologist.

HA! Of course I Googled it! He had scribbled, "Addison's Disease." I skimmed the first article that I found, read the symptoms, and then saw that it could be fatal. I closed the page immediately and walked away saying, "He was right." But I did read those symptoms: nausea, weakness, fatigue, weight loss....June didn't have any of those. So she didn't have Addison's.

The dermatologist agreed with our pediatrician. She said that her skin was "definitely not normal." In fact, 5 other dermatologists from around the office came in to see June, and one asked to take pictures! They ordered bloodwork, and also made an appointment for us to see a pediatric endocrinologist in a couple weeks.

After two weeks we still had not heard the results. I was going to call on a Friday afternoon but we got caught up in a playdate, and I thought, "if it was bad, we would have heard by now." So I decided to call the following Monday. Well, I didn't get to make that call, and in the next section you will know why. (Side note: the dermatologist never got June's bloodwork from the lab, which not only infuriated the doctor for such a mistake, but also Tony and myself)

Lesson learned-call your doctor if you are waiting for results!

Three days before diagnosis.

How Did We Get Here? June's Story, Part III (By Whitney)

Part III: August 2010- June, 14 months.

I went to get June from her crib one morning. I picked her up and smelled bad breath. Uh-oh...we know what that led to last time! But that must have been just a fluke, that wouldn't happen again.

June was fine all day and spent a few hours with close family friends while Tony and I attended a wedding reception that evening. We picked her up and on the drive home, we could hear her breathing. She sounded a little stuffy, but did not worry too much about it.

The next morning, June had a full-blown cold. Heavy, labored breathing, congestion, and mild fever. A temperature of 101-102 did not mean a lot to us because we had already been in the 104s! She was very clingy and seemed weak, but I thought, "well of course she is weak, she is sick." I called the nurse to ask what we could give June for a cold, and she gave us the typical instructions: humidifier, tylenol, liquids, etc. She asked me to describe June's behavior. She paused, then said, "It is okay for a baby to have a cold. It is okay for a baby to have a mild fever...but she shouldn't be weak." Meanwhile, I'm whispering to Tony..."I don't know, do you think she is weak??" I had mentioned that we were waiting for the test results on Addison's, but remember-I had not read about Addison's at this point, so I had no idea what it was. Based on what had happened in February, the nurse said she would feel better if we took June to the ER at Children's Hospital. I hung up the phone and sighed in disbelief. I couldn't believe we were taking June to the ER for a cold!

When we got to the ER all I could think was, "Oh geez, they think I am that parent! Here we are with a child with a cold...wasting their time...they think I am overreacting..." I admit, I felt a little embarrassed. With the help of the tylenol, June's fever had even come down to 99! Grrreeeatt...even the nurses think I am being ridiculous!


When our ER doctor came to see us, I know he was thinking the same thing I was! He was oh-so-casual and hooked June up to an IV to hydrate her and said we would soon be taking her home. He left (probably rolling his eyes and wondering why we were taking up space in the ER). When he came back to check on June, I said, "I don't know if this has anything to do with it, but she is being tested for Addison's." Well, well, well...did HIS attitude change! He paused and said, "I'll be right back."

The doctor came back in, sat on the bed, and was much friendlier with us. He said he had spoken with Endocrinology (we were due to see them the following week) and that he would be admitting June.

We got the diagnosis the following morning. The endocrinologist overseeing our case was wonderful and really stressed the importance of understanding what all of this meant. She said that most likely, the February episode had been an Addisonian Crisis, and she was amazed that June had bounced back from it so well. She was also amazed at how well June had been ever since. Her cortisol level was below 1! Her ACTH was a whopping 3,006. And we would later find out that her aldosterone level was undetectable.


Just a month earlier, I had felt so silly asking our pediatrician about June's skin tone. In the hospital, our doctor looked me in the eye and said, "You asking about her skin saved her life." That statement took my breath away, and only at that moment did I finally understand what this all meant. I also tearfully thanked June's pediatrician for taking me seriously. He could have easily blown me off and said, "It's the middle of summer, you just got back from Phoenix, let's check her this winter." Everyone in the hospital told us how lucky we were, and now knowing more about this disease, I would have to say I agree.