Today is Rare Disease Day. The main objective of this day is to raise awareness about rare diseases and their impacts on patients’ and their families’ lives. In the United States, a condition is considered “rare” if it affects fewer than 200,000 persons combined in a particular rare disease group, according to Global Genes.
Ian was born nine weeks early due to complications of a rare metabolic disorder called long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD), a rare condition that prevents the body from converting certain fats to energy.
To look at Ian, you would never imagine anything being wrong. He is a happy, energetic, and one of the funniest kids you will ever meet. For the first 8 years of his life, we felt completely blessed having Ian hospitalized only about four times with complications of the disorder. However, just 3 months after Ian turned 8 years old; he had to be hospitalized at our local hospital in Fort Worth, Texas. This hospitalization was nothing like the others. Ian wasn’t getting better with the intravenous (IV) fluids like he normally did.
We were at the hospital for over a week before his levels were low enough that we could come home. Sadly, a week later we had to return to the hospital for another week of fluids. We followed this same pattern over the next few months. With each admission, our fears and frustrations grew and it was especially difficult for Ian. We found it more difficult for Ian’s IV to last very long. Between his five admissions, he had over 10 IV fluids given. During the two months of being in and out of the hospital, his local metabolic doctor recommended him to be on a clinical trial led by Jerry Vockley, M.D., Ph.D., chief of Medical Genetics and director of the Center for Rare Disease Therapy at Children’s Hospital of Pittsburgh of UPMC.
We knew we had to do something to help Ian. We couldn’t let things continue as they were. We contacted Dr. Vockley’s office and got Ian enrolled in the trial.
When it was time to go to Pittsburgh, however, Ian was back in the hospital. Our doctor wanted Ian’s levels to be at a certain point in order to release him. We felt blessed once again because his levels came down enough just in the nick of time. We were released from the hospital around 5 a.m. and headed straight to the airport to catch our flight to Pittsburgh. Ian was still very weak and tired the day we arrived.
The next day, Ian woke up feeling nauseous and began throwing up. Once again we headed to the hospital. This time it was to Children’s Hospital of Pittsburgh of UPMC. Elizabeth, a genetic counselor and research coordinator at Children’s met us in the emergency department and helped us get situated and taken care of. Ian was admitted thinking he had a stomach bug or food poisoning. Yet another IV had to be placed, and we were back to living in a hospital room, only this time we were out of state, away from our two other children, and not having any family or friends nearby. Over the next few days, Ian did not get better. He was actually getting worse. The scariest moment of my life happened on that Saturday afternoon. The room we had been staying in was suddenly filled with nurses surrounding our son and we were rushed us down to the pediatric intensive care unit.
Ian was in cardiac arrest.
They immediately had to perform CPR. After they got somewhat of a heartbeat back, they told us they needed to put him on extracorporeal membrane oxygenation (ECMO). After hours in the waiting room, we were finally able to see him. He had tubes all over as he was on life support. After a week, they were not seeing any improvement on his heart function so they decided to realign the tubes that were going to his heart. After that surgery, Ian was transferred to the cardiac intensive care unit (CICU).
I have never met such amazing nurses as I have in the intensive care units. They took amazing care of our little boy. They answered our questions, wrangled up the doctors when they couldn’t answer a question, and made sure we had everything we needed.
Another week or so passed in the CICU and still no improvement on his heart. The doctors decided at that point to convert him from ECMO to a ventricular assist device (VAD).. This type of device would allow Ian to eventually wake up and move around. Given the high possibility of needing a heart transplant, this was the best option. Day after day, we sat next to our son hoping and praying for a miracle. But with each day, we were told there was no improvement in his heart. His lungs would seem to get better, and they would take out the breathing tube, only to see his lungs deteriorate and had to put the tube back in.
We have never prayed so fervently. We had friends and family – even people we had never met – praying for Ian. People literally from all over the world were praying for our little guy. It was a Sunday evening, 40 days of Ian being on life support, that my husband and I, along with people we met at our local church, came and prayed over Ian.
The next morning, the doctors did their daily echocardiogram of Ian’s heart; only this time they saw improvement. Not just a small improvement, but improvement so great they thought they could remove him from the heart machine completely! They ran a heart catherization to see how Ian’s heart would do when the heart machine was turned off. As they suspected, his heart was functioning enough that they could remove the device. The following day, he had surgery to remove it and his heart was at full, normal functioning level. The doctors had no answer as to how, or why his heart suddenly was healed. It was very unexpected. After listening to his heart and examining Ian, doctors said “this is truly amazing.”
At that point, we began the long road of recovery. Physical and occupational therapists came to work with Ian daily – sometimes twice a day. He amazed us with his progress. One of the greatest things to see was Ian back to his silly self, laughing, and making jokes with his brother and sister who came to visit.
What was supposed to be a three day visit, got turned into a three month stay. If it weren’t for the amazing support of family and friends, both near and far, as well as the support from everyone at Children’s, and the amazing generosity of Dr. Vockley and his staff, we were able to get through the most difficult trial our family has ever been through.
We were able to bring Ian home at the end of September 2015. He still has a long road of recovery but, we are grateful to be able to continue that progress at home with his brother and sister as well as other family and friends.
Facts on Rare Diseases from Global Genes
Globally, some 7,000 rare diseases have been identified, with more being discovered each day. Compared to widespread conditions that strike hundreds of millions of people, like cancer and heart disease, rare diseases can lack similar levels of interest amongst the general public and medical/research communities. Most of these individual diseases receive little attention because they affect only thousands – or sometimes only a handful – of patients worldwide.
Collectively, there are 30 million people in the United States living with rare diseases. This equates to 1 in 10 Americans or 10 percent of the United States population. Today is an important day to raise awareness about rare diseases.
Ian’s story helps to highlight some of the challenges that families face. Perhaps more importantly, Ian’s story gives hope to others fighting their rare disease. The Center for Rare Disease Therapy at Children’s Hospital of Pittsburgh of UPMC consists of international experts focused on treating children – like Ian – with rare diseases, defined by leading standards of care, pioneering protocols, and individualized services in a world-class environment.
For more information, please visit www.chp.edu/rarecare.