Double Rare
Riley O'Brien of Magnolia, New Jersey was born with a rare genetic condition known as heterotaxy, which affects the position of the body’s organs during gestation. He also has a complex heart disease that meant regular caths and stents in his pulmonary veins starting when he was only 3 months old. Slowly he lost the use of his veins and was down to only one functional vein when he received a heart/lung transplant. While they waited for his transplant, the family and Riley’s medical providers were involved in an aggressive fight against the scar tissue that would build up as a result of his procedures.
Riley’s parents were told he’d need a heart and lung transplant to live past five years of age and he was fortunate to receive the new organs one month before his fifth birthday at Children's Hospital of Philadelphia (CHOP), where he still receives transplant care.
At age 13, eight years since his transplant, Riley also learned he has the SMAD2 mutation for Loeys-Dietz syndrome. Prior to this discovery, the family believed his heterotaxy was a spontaneous genetic mutation. Though the relationship is still unclear, Riley’s medical team now believes that his heterotaxy is part of his SMAD2 mutation, which he inherited from his father. The same gene mutations can look very different even within families and Riley’s dad has fewer symptoms of LDS than Riley.
With the Loeys-Dietz diagnosis, some of Riley’s past medical circumstances make a little more sense. But the O’Brien family is already familiar with living with a rare condition. They’ve connected with many people in the heterotaxy community to get and give support to other families facing similar challenges to Riley’s pediatric heart/lung transplant. The LDS diagnosis is new, but this is a family ready to view this double rare situation from a place of hope.
Carol O’Brien, Riley’s mom:
If you look at his pictures, Riley looks like an average kid (if his shirt is on). He’s small but you would never know that this child has been through all the things he’s been through and still goes through all he does. He sees ten specialists. He takes a dozen meds a day. He loves life! He loves school. He’s a social butterfly. He wants to be friends with everybody. He goes to camp. He’s into video games and loves watching professional wrestling. He would love to be a wrestler but because he physically can’t, he hopes to train to learn how to be a referee or commentator. He’s a busy kid, and as a parent, of course, I’m nervous, but the whole reason we did all this was for him to have a life.
There’s a lot of weighing out quality of life vs. protecting him from everything for us. He was homeschooled until he was seven, but we didn’t do all this for him to live his entire life in our living room. We did this for him to have friends and live life and be a kid and hopefully become an adult. And so our fingers are crossed and if something happens, we’ll deal with it.
We try to let him live because we don’t know what tomorrow holds. With Riley, today could be fantastic and tomorrow he could wake up with a fever and end up at CHOP. But then we come home and we go back to living again. We try not to let that keep him from living and having the best life he can have.
I want people to see Riley and see there is hope. As a parent of a child with a rare condition, you might see a statistic on a piece of paper and feel hopeless. But then I want you to see Riley, out here beating every statistic and every odd, every day.
We are proud to have you in our LDS community, O’Brien family! Riley’s family updates about his incredible story on Facebook, Instagram, and Twitter all at @Smile4Riley. You can also read his heart/lung transplant story here.
