A personal aHUS journey shared by guest contributor Sarah Staffiere, who provides insight into their family’s search for a new version of ‘normal’ after her young son was diagnosed with the rare disease atypical HUS.
As a first time mom, I dotted every “i” and crossed every “t”. I always followed every recommendation and warning since my five year old son Gabe was born- breastfeed, no co-sleeping, no jackets in a car seat, vaccinate, tie up the cords to your blinds, kids can drown in an inch of water, no honey before 1, no blankets in the crib. Learning to relinquish control when he started daycare at 3 months was hard but I subconsciously believed if we followed all the rules, we’d be safe. A coping mechanism for all the scary things out there, though certainly an illusion.
That all changed when my son developed concerning symptoms following a high fever virus in late August 2017. The virus was one of what seemed like a hundred he had since starting daycare. The fever only lasted 36 hours but when it broke, new concerning symptoms started to appear in the morning- dark urine, constant vomiting and a yellowish tinge to his skin. Within five hours of taking him back to the pediatrician that same day, we were in an ambulance transporting him from the local ER to the children’s hospital after his platelets came back at <5,000. One thing I’m grateful for was how naive I was while he was going through this initially. It wasn’t until his diagnosis three days later that my bottom really fell out. I had googled ahus after a lengthy discussion with his doctor to learn more about what he was facing. Of course, there was no “You’ve got ahus, now what?” pamphlet. Instead there was the vast internet filled with outdated information and statistics. And almost all of it was bad. Wikipedia described a “very poor prognosis”. I broke down to his nephrologist who tried to explain about Soliris and how Gabe would be okay, but the damage was done. I could not unread those words. It was in my head and now I had retreated into my racing thoughts. We were discharged five days after the ER trip, with the next Soliris infusion set for the following week.
As a biologist who teaches at a college, I’m familiar with reading primary literature and scientific journals and so I dove in. Paper after paper. I had this icy feeling as I read patients’ symptoms, blood work numbers and outcomes described. I took notes. Made long lists of questions. I thought that finding data would comfort me but there was so little info other than pre-drug studies with a handful of patients. I went into the first few doctor’s appointments with my lists of questions that there was really no answers to and articles that the doctors had never seen or read. For an information driven scientist who wanted to understand everything, an ultra rare disease was my worst nightmare. There were at least a few days where I barely came up for air. In hindsight, I was likely battling PTSD.
One of the harder parts of a chronic illness like this is that now instead of being out of the hospital and “through it”, we were thrust in a whole new world of treating an ultra rare disease indefinitely. An isolating and lonely place. I knew and understood so much more than my husband about what could have happened to Gabe and what has happened to others that this made me even lonelier. It was like I was speaking a foreign language to him – ldh, tma, pathogenic mutation, autosomal dominant, menactra, antibiotics prophylaxis. Don’t get me wrong, I’m grateful my knowledge of biology and medicine put me in a better position to understand his illness but around me no one else understood. His nephrologists had treated a few other ahus patients in the past but even still, my communication with them was a bit of a dance. They would tell me their plan and I would push back with questions and statistics from articles. They certainly always respected my need to go through the details of his treatment but a lot of the answers I was looking for were just not there, simply because the patient pool is so small in numbers and diverse in course that it makes predicting something merely a guess.
Meanwhile I returned to working full time ten days after his hospital stay after burning through an entire year’s vacation. I was holding down a demanding teaching position, caring for my younger daughter who was a 10 month old nursing baby, and sending Gabe back to daycare where I imagined he would get sick constantly. My semester was punctuated with all these new doctor’s visits, second opinions out of state and trips to the infusion clinic. Fortunately my schedule in academia is flexible but at the end of the day the work needs to get done even if that means you’re up all hours of the night to make up for a lost day at work. The pressure was enormous.
I wanted to put him in a bubble but I also wanted him to have a normal childhood so we made the decision to continue with all the plans we had for him- preschool, soccer, trips to the playground- and I would just need to swallow that anxiety rather than isolate him to keep my fears at bay. Luckily, we had amazing childcare with teachers that instituted all the accommodations I asked for (extra hand washing, notification of sick classmates to name a few) and cried with me when I told them what we had been through. I prepared simplified handouts with explanations of his illness. I’m not confident if everyone working there “gets it” but as long as they call me if he seems off and gets him to wash his hands, that’s the best I can ask for. Illness is a part of life when your kids are at a daycare center. But now a peer getting sent home with a fever is more than a potential inconvenience to our schedules. There are no more innocent viruses.
I started counseling almost immediately and that was one of the best things I could have done for me and my family. I was told of this “new normal” I would get to but that seemed so far away. Over the three months following diagnosis, the genetic tests would come back positive for a known mutation, screening for my younger daughter would also show she had the same mutation, and even more testing would reveal my husband does as well. Each new finding would send me into a tailspin of worry and anxiety. We would visit his pediatrician and the dentist, where I’d have to explain what his illness was. He developed a fever and off to ER we went where I calmly explained ahus and the risks with Soliris while I dug my fingernails into my hand and swallowed the lump in my throat. I lived in a world of ‘before’ and ‘after’. Old pictures of him pre-diagnosis would make me sad. I longed to be worried about small things again. Reading accounts of other’s struggles stirred up new anxieties. I dreaded trips to the infusion clinic where we were reminded of Gabe’s illness and watched others battle with theirs.
I think I began to turn a corner around nine months out. I don’t even know how but perhaps I made my way through much of the grieving process of my old life. Today, I sometimes think about what our lives would be like if he became ill without Soliris. I’m not sure why I do that to myself but maybe it feels like penance for the guilt I feel when I resent that he needs these infusions and that we have to worry about infection, constantly washing his hands and slathering sanitizer all over ourselves. We attended ahus conferences about a year after his diagnosis at just the right time. They brought my husband to the table after hearing first hand all that I had read. I met families who just “got it” and the researchers at Iowa who have done so much for us. I could finally hear others’ stories without so much fear and guilt. Visits to his nephrologists have gotten shorter and I am more grateful now that they have a very patient-centered approach to treating Gabe’s ahus when I originally wanted everything to go “by the book”. They watch how his body responds to infusions with complement tests and make decision from there about frequency and dosing. We’ve talked about stopping treatment down the road after they read a recently published study and I may be ready to consider this in the coming years.
We look toward the future with all kinds of new questions- does he stay on Soliris or trial off? Are there new drugs that will be better options? What will kindergarten be like with all new teachers? Will my daughter develop ahus? How will Gabe do as he matures and begins to realize not everyone gets infusions? This is a hard road. We all have to turn to what helps us be the best parents and caregivers and I think for many with small children, this is a shift of enormous proportions. For anyone reading this that is new to this journey, I can confirm you do find that “new normal” my therapist spoke of although I’d go back to my “old normal” in a heartbeat.
So what have I missed about our story – oh yes, my son. Through all of this he has done so well. His ahus is under control, kidneys are A+, takes his infusions like a champ. It took me a while to “see” my son again without thinking about ahus but I think we are there. I continue to read new studies, follow the drug pipeline and for me knowledge is powerful and a comfort, at least in small doses.
The author Sarah Staffiere lives in Maine USA with her husband and two children where she teaches Biology at a small liberal arts college. Her son was diagnosed with aHUS in August of 2017 at 3 years old.
