Rare, and Precious

Rare Disease Day

Today is Rare Disease Day. February 29 is on our calendar only once every four years. Rare diseases strike much more often, considerably more often that you might think.

The US defines a rare disease as a disease that affects less than 200,000 people at any given time. The average Facebook user has 130-150 friends (depending on source). To put this in terms you might understand, every one of your FB friends represents about 1350 people with just one rare disease. There are about 7,000 diseases categorized as rare by the USCDC. Half of those affected by rare diseases are children.

Lots of money and awareness are raised for heart disease and breast cancer. But what about funding for all those rare diseases that claim the lives of thousands of people every year? Those diseases that, when mentioned, produce a vague nod and raised eyebrow in conversation. Pulmonary Hypertension is one of those diseases. Over 15,000 people die from PH and its effects each year. 66% of those with PH are over age 65. Pediatric Pulmonary Hypertension is extremely rare. I am all-too familiar with this one, very rare disease.

Pulmonary Hypertension Association

Pulmonary Hypertension is high blood pressure in the arteries of the lungs that lead to heart failure. My son, Jacob, was diagnosed with Primary Pulmonary Arterial Hypertension in November 2007, when he was 23 months old. In the few months leading up to the diagnosis, he grew more and more tired and lethargic. He coughed frequently and occasionally threw up when he was coughing. During an x-ray to see if he had pneumonia, Jacob's heart was discovered to be quite enlarged. We were sent to Vanderbilt Children's Hospital for more tests, including an echocardiogram. The technician spent a long time looking at Jacob's heart. A few minutes after the tech left the echo room, two doctors came in. They spent a long time looking at Jacob's heart, and then left. A few minutes later, one of those doctors came back in and escorted us to a room. He told me that Jacob had a very severe case of pulmonary hypertension. He also said that he wanted to admit Jacob into the pediatric intensive care unit right then. I was quickly becoming an expert on a disease about which, just hours earlier, I knew nothing.

Jacob, after he got his IV port. Lots of stuff
for such a little boy to carry around by himself.

Dr. Moore and Mary Beth, Jacob's PH team, were great. They provided information and support, tissues and lunch, and patiently answered our many questions. Jacob was completely comfortable with them and soon won over the ICU, and later, the cardiac unit nursing staff with his cheerfulness, wit, and charm. Jacob stayed in the PICU for six days and was released on his little brother's, Sammy's, first birthday. We returned to the hospital bright and early the following Monday morning to have the port inserted for continuous IV therapy. Jacob did well during the surgery and was admitted for recovery (and our training in the disease) for five more days. He suddenly had a healthy pink glow and had more energy than he had had in months. His medicine was working!

For the next two and a half years, we experienced many bumps and several really scary moments. We made many trips to Nashville for appointments and made far too many trips to Nashville in the backs of ambulances. Jacob was life flighted on Thanksgiving Day. He had a break in his line a few days before and had developed an infection. Scary does not begin to describe some of the emergencies. Terrifying would be a more accurate description.

Jacob, Easter Sunday 2010
Always wearing his backpack.

On May 25, 2010, we took Jacob in for his "routine" heart catheterization. He had trouble with the anesthesia and went into cardiac arrest. CPR was performed for 45 minutes to save Jacob's life. His heart was not responding, so he was hooked up to an ECMO machine and admitted to the pediatric critical care unit. That was on a Tuesday. His body began to shut down and he began experiencing a lot of pain. He did not wake back up. On Saturday, he died. He was four years old. I held my baby as his heart stopped beating. It was the most terrible and most precious moment of my life.

Jacob was an amazing little boy. Truly. He was an avid reader. He loved music, puzzles, Thomas the Train, Woody, and The Wiggles. His favorite color was red. He loved desserts, his guitar, and his little brother. He was cheerful even when he was sick. He had bright blue eyes, a sweet voice, and an infectious laugh. He found joy in every situation, strutted down the center hallway at church, and charmed the nurses out of their equipment in the hospital. I could write for days and not communicate everything Jacob was. Jacob. My sweet and wonderful and beautiful first-born son. Gone.

Support research and the search for better treatments. Pray for a cure. Help take the imminent death of a child out of the equation for even one family. Fight Pulmonary Hypertension. Jacob fought it for two and a half years. Don't let his fight be in vain.