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Living with PIDD
“We will prepare him for the worst, but pray for the best." - NAME OF SOMEONE
Sean hates the prick of needles, like many eleven-year olds, despite the fact that he is regularly forced to endure them. Honestly, he prefers the accidental prick of a loosely dangling fishing hook, to the looming pain he experiences during his weekly injections. It means he gets to be outside on a summer’s day. “It’s relaxing,” says Sean. “You just get to sit here and wait for fish.” Sean has spent much of his life like a fish out of water, battling a rare medical condition, but thanks to improved treatments and a supportive family, he is learning to swim again.
Unlike most eleven-year-olds, Sean has no immune system. He struggles with Common Variable Immunodeficiency (CVID), a type of Primary Immunodeficiency (PIDD) since he was born. PIDD is estimated to affect at least 250,000 people in the United States, although still not much about what causes it.
“When I think about it, I don’t mind getting stuck [by a needle] at all,” Sean admits. “I’m happy that I have a treatment because not too many people in this world have a treatment. It allows me to stay alive.”
Sean’s body is deficient in key immune-antibodies that most people are born with. These weekly infusions contain some of the necessary immunoglobulins (specifically IGGs) that Sean needs. “This gives him some protection against life-threatening infections,” says his mother, Amy. “It helps him fight off infections similar to someone with a normal immune system.”
Many people who receive this treatment are required to go to the hospital to receive intravenous immunoglobulin treatment or IVig, because of a high risk of anaphylactic shock, but Sean and a growing number of patients are able to do the injections at home with subcutaneous immunoglobulin treatment or SCig (or Subcu). Unlike the monthly IVig treatments, which allow IGG levels to taper off by the end of the month, the regular SCig injections keep a more consistent level of immunoglobulins in Sean’s blood, helping him stay healthier more consistently while allowing for a more normal life. “It feels nice to be at home,” says Sean. “Because then I can lay in my own bed, play with my own stuff, sit around the fire…”
The at-home SCig treatments have been a gift to a family that has spent an exorbitant amount of time in the hospital. From almost the moment Sean was born, he was hospitalized and put on antibiotics because his body simply couldn’t fight off any bacterial infection or virus. “He was getting sick all the time,” describes Amy. “We were at the pediatrician in the first year of life—there’s 52 weeks in a year—we had 104 visits… He caught almost every childhood virus known to man.”
Despite this startling figure, it took some time to get the diagnosis of CVID. “The field is only about 40 years old,” says Amy. “I needed to get to the bottom of why my child was so sick… So I got fed up.” She took Sean to an immunology clinic where full screens were run of his blood. Eventually he was diagnosed with hypogammaglobulinenia, but was told he would “outgrow” it. “They told us to, ‘hurry up and wait.’”
Meanwhile, Sean was struggling to learn in school, as he missed so many days due to infection. “He missed 60-70 days of preschool,” says Amy. “I mean he didn’t learn anything.” This pattern continued until now, the family decided to pull Sean out of school. “It’s one of the toughest decisions we’ve ever made, but I said we’re going to homeschool the boy.”
With much prodding Amy was able to eventually ascertain a clearer diagnosis: CVID. The news shook his parents considerably: “For two weeks we cried every night, because we thought we were going to outlive this child. It’s like going through all the stages of grief. You go through that, because everything you knew, and all your hopes and dreams for your child have completely changed. You’re now in this medical community that you know nothing about. You’re relying on doctors to give you the right advice, but you find out very quickly that doctors are not infallible.”
The challenges that lay ahead for the family were immense, but so was Sean’s and his family’s will to survive this. Amy, a veteran Marine, was determined to fight her way through the medical system until she found the doctors that gave what she saw as the adequate amount of care to her son. “Before I had a sick kid, I put doctors on pedestals; I thought they were like god. I learned real quick… Now they know I’m in charge.” Her dedication to her son’s health has meant the family switched physicians frequently, and certainly her persistence left a few with bruised egos.
The challenges of navigating the hospital system have been greatly eased with the families productive relationship with Orsini, their healthcare provider. “Orsini is not just a pharmacy, they also have provided us with a nurse, initially to train us how to give infusions, and they also provide us with all of our supplies,” says Amy.
The company has also relieved the pressure caused by the costs of Sean’s medication. Each dose of immunoglobulin takes 3,000-10,000 blood donors for each of Sean’s weekly infusions. “His dose is about $30,000 a month.” Yet, with Orsini, the family has received an incredible amount of relief. “Orisini is one of the first pharmaceutical companies that I have dealt with where I don’t have to do any of the billing,” says Amy. This means, “one less headache for mommy” and one step in the right direction for Sean. “Orisini is putting a face to our disease—to primary immunodeficiency—to other rare diseases.”
Sean is also a participant in several programs designed to help kids with life-threatening diseases including Make-A-Wish and Beads of Courage. He now has a service dog, Max, who has helped him immensely. “We were able to get Sean off of high-dose narcotics because of Max,” reports Amy. Max is trained in “positive pressure” therapy and applies pressure to his joints to relieve the pain caused by Juvenile Rheumatoid Arthritis, which Sean also suffers from.
Most importantly, getting adequate care has allowed Sean’s family to grow despite the relentless uphill battles that come with CVID. “Sean begged us for a brother or sister,” recalls Amy. Chris, Sean’s brother was born when Sean was five-and-a-half years old, and also struggles with a milder form of PIDD. This has given Sean some companionship and someone else to struggle and hope with. “I don’t want my brother to have to feel the pain that I have to feel every single week,” says Sean.
Incredibly, Sean and his family are hopeful about transitioning off of therapy in the near future. “When Sean hits puberty we’re going to attempt to trial off,” says Amy. There is still hope that Sean can “outgrow” his PIDD, but Amy isn’t easily convinced. “We will prepare him for the worst, but pray for the best.”
She maintains a positive attitude despite over a decade of setbacks. “The good news is that Sean has never been healthier. The news is that our children have never been healthier, so we look at that every day as a blessing, the days that they are healthy, because there are families out there that are burying their children right now.”
Sean is battling everyday to get back the immune system he deserved to be born with. Really he just wants to be a normal kid and have some fun now and then. “I’m praying for a positive immune system… It just stinks having all this stuff happening. It’s just not fun.” He wants the best for himself and also for others who struggle with PIDD. “I look forward to having a life. And I look forward to all these people out there with sick kids, hoping those kids have a good life.”