Running with the Zebras, a tale of medical stripes

The day had finally come, the car was packed, and we were on the road. It would take just over five hours to arrive but it would change the course of our lives forever. We just didn't know it yet.

August 2nd, my dad's birthday, so it was easy to remember. I made sure to call him on our way out. I could tell by his voice that he wasn't feeling well, the strong winds and gloomy clouds weren't the only things dampening the day.

We stopped several times letting the kids run around and stretch their legs. I watched with gratitude as my little boy ran on his legs that had suddenly stopped working just weeks before. We tried to make it enjoyable, as we weren't sure what lied ahead, and the last thing we wanted was a five-hour drive filled with misery.

We turned up the music and rocked out, we stopped at our favorite fast food place for lunch, played one too many games of I-Spy, and the A,B,C game before turning down the street our hotel was on.

We quickly got settled in, the kids tested the beds for bounciness, and hubby tested it for comfort. I was too nervous to do much else other than keep my mind busy with mindless tasks. I double-checked the paperwork and my notes, I made sure we had ID cards, and looked over everything at least ten more times.

After dinner, we put the kids to bed, and hubby and I tried to relax by watching our favorite movie together. It would take him minutes to fall asleep and hours for my mind to shut down enough to drift off.

The next morning after a breakfast of pre-cooked bacon, scrambled eggs, and a variety of pastry options, we headed to the hospital.

My stomach felt like I swallowed a thousand butterflies. I kept thinking what if I forgot to ask something, what if I forgot to mention something important. So many thoughts ran through my head and they wouldn't stop, the thoughts were so loud I didn't even hear the nurse call us back. My husband tapped my leg and it startled me out of my panicked trance.

We were pulled back into a room, not unlike most of the offices we had been in recently. The nurse asked us several questions and took a complete history of not just my son and his symptoms but of everyone.

We told her how three weeks ago my son suddenly couldn't stand. The day before he was sword fighting with his friends in the backyard and then the next morning, unable to get out of bed. Even tempting him with bike riding or playing video games with daddy was turned down and replaced with tears.

She heard how the previous weeks we went from doctor to doctor looking for answers, and they had ran test after test, only to come up with hypotheses and no answers.

Jotting down the notes and details of our story, she remained fairly quiet. I would catch a glimpse of a smile and a slight nod, it would give me hope that perhaps this time we were on to something.

She left the room and let us know the doctor would be in soon.

My husband and I quickly exchanged thoughts of hope and he reached for my hand. It was comforting to know that we had eachother.

The minutes that followed felt like forever. The kids' voices echoed in the room and then again in my ears. It was completely nerve-wracking. The door opened and in walked the doctor; a kind smile, soft voice, and welcoming hand shakes.

He spent so much time with us, he got the kids to laugh, got us to relax, which was so nice. He asked us more questions and took more notes. Looking at my son and asked him to touch his toes, put his arms out, lifted his legs one at a time, all normal kid things.

My son was able to tell him how his legs would pop and stop working, how he missed his favorite game of soccer because the pain was too much to bear.

He looked over his x-rays, his labs, his Ct scans, and the notes from the many doctors we had seen. Then he spoke words I had never heard before, Ehlers Danlos Syndrome.

I was confused as I had never heard of EDS, more questions raced through my mind.

What was it? What did it mean? How did he get it? What happens now? The thoughts and the questions just flooded in and didn't stop.

Then he started asking questions about my oldest son, I didn't understand. We were not here for him, just my youngest who had gone from this happy child who loved life to a child in daily pain, why on earth was he asking about my son who was fine?

On the spot, he also diagnosed my oldest son and my husband with Ehlers Danlos Syndrome. He explained that connective tissues make up a huge percent of your body and that their tissues had been affected. Each family member could present differently but it was often characterized by overly loose joints that move in and out of place on their own, chronic fatigue, joint pain, and other issues.

Why was this happening? A month ago we were throwing his fifth birthday party, where we dressed up as kings, queens, and knights. He won the tournament of knights against his friends and blew out the candles making a wish for a new bike.

After we were able to collect ourselves and ask some more questions, we found out that our lives would change forever with this diagnosis.

We walked away with a whole new outlook on life. Gratitude for things we had taken for granted and a team of doctors willing to help us navigate through the unknown. Medically known as a Zebra, we now belonged to a dazzle of medically unique cases.

The drive home was different, the sun was shining, the clouds had moved away, and we were headed home to start a whole new life. We didn't have all the answers but we had a direction to go in and my son had a family who refused to give up on him.