Kara, the mother of a child with an autoinflammatory disease, describes her family’s experiences with diagnosing, managing, and living with an autoinflammatory disease.
This talk was presented as part of the “Managing your Autoinflammatory Disease: Lifestyle and Wellness Workshop,” which took place on April 28, 2018, at Boston Children’s Hospital in Waltham, MA.
Watch the video or read the transcript below. You can find other videos from our workshop, but also stay tuned for more presentations over the next few days!
Transcript has been edited for clarity.
Julia was a beautiful baby with a full head of curly black hair. Her first couple of years were filled with sweetness and love, but also many unexplained fevers we chalked up to exposure to her two older brothers, who had persistent asthma, migraines, and, of course, normal frequent childhood illnesses.
One morning when I was six months pregnant with her younger brother, she woke up with high fever and a neck swollen as if she had swallowed a whole apple. She was sent for blood work, a CT scan, and eventually a lymph node biopsy. Overwhelmingly relieved she did not have lymphoma, we were not too concerned when her fevers continued, until a few months later when she started with what we had originally thought were night terrors–she would wake up screaming, without explanation. Eventually, she told us her head hurt.
Around this same time, we had been referred to rheumatology at Children’s Hospital. By the grace of a scheduling blunder for which we are forever grateful, we were matched with Dr. MaryBeth Son, one of our “brilliant angels. “ Dr. Son is kind and compassionate; she wanted to get answers and more importantly, get Julia feeling better. She referred us to neurologist Mark Gorman, who asked me to page him next time she had a fever and overnight headache. I asked to clarify if this should only be done during business hours? “No,” he said, “day or night.”
I paged Dr. Gorman just after 6 am the next time it happened and was told us to bring her right to the emergency room for a spinal tap, which showed elevated intracranial pressure, and that changed everything. It was the day Dr. Sundel mentioned the NIH, which we had a lot to learn about. He told us: “It’s in Bethesda, Maryland. You will road trip!”
The NIH is where we got Julia’s first prescription for anakinra, and where she won this pink bear named Valentine at Bingo at the Children’s Inn. We were terrified to give our little girl shots at home but hoped for the best. We took the family to the zoo two days after her first shot, and as always had Julia in the double stroller with her baby brother. We will never forget the moment she jumped out of the stroller to walk! We emailed her doctors the good news, wondering if these dramatic and immediate results could really have been from the medication. The answer was, and still is “yes!”
Since that day, we have seen dose increases, some more hospital admissions, a switch to canakinumab and the world of the Center for Ambulatory Treatment and Clinical Research is (CAT/CR) for infusions, but also our girl being able to live her life! We have cried happy tears at dance recitals and school performances, birthday parties, and even the day she learned to read. Through it all, her doctors at Children’s Hospital have been there for us with continuous communication, genuine concern, and the determination to help Julia and kids like her. We are so thankful.
Through it all, Julia has shown incredible strength and resilience. One time she was admitted to the hospital at age two after a long night in the ER, she snuggled into the bed, looked up at the Red Sox game on TV and asked, “who’s pitching, mom?” That’s our girl. One October when she was admitted with an angry-looking cellulitis of her eyelid, she joked that she would just be a zombie for Halloween!
She has somehow always managed to distract herself from the burdens of her life’s challenges and think of herself first as a dancer, a friend, a sister, a hard-working student. She has coped with the difficulties of injections with ritual–in the early years, she would shop with me and carefully choose the band-aids for after her injections. She would give Valentine the bear her shot and band-aid, then allow us to give her her own, although there were many days it was heartbreakingly not without kicking and screaming.
Right away, though, Julia saw the connection between the shot and feeling well. These days, she participates in the scheduling of CAT/CR appointments, and her ritual in the CAT/CR is choosing which arm for the shot, and which arm for labs and grabbing a handful of Skittles (minus the green) with each. Even now, I ask her what helps her deal with getting the shot: “it makes me feel better.” She has always been very rational and straightforward. we tell her that she could have a great future in medicine since she is so knowledgeable from her own experience.
The older she gets there is an ongoing effort to maintain balance–encouraging her to participate in medical discussions and decision- making, coping with all of these additional burdens of chronic illness, with living fully and participating in “typical” middle schooler activities. There is less kicking and screaming now, but there are still tough moments and days. our family rule has always been you can swear about your health challenges, and even when you are at the hospital, just not in front of the doctors and nurses! My kids have always found this helpful! Julia also will stick her tongue out, assuring me “that’s not for you, mama, it’s for this!”.
As is appropriate, she has her pre-teen moments of “breathing fire,” and we encourage her to express her frustrations. That being said, I am truly in awe of her strength and have told her so. I have also asked her if she minds when I tell her that she is the strongest girl I know. “No!” he says,“because it’s true!” It really is.
One of the most difficult parts of all of this has been the uncertainty of it all. Julia is considered to have an “IL-1 mediated autoinflammatory condition,” which is obviously not a simple answer. Early on, we learned to become less focused on diagnosis, and more focused on feeling better, and how this would impact Julia, short and long-term. I remember asking very early on whether Julia might be able to carry a child if she is on these medications indefinitely, and found great comfort and hope that the answer is yes. Julia chooses to be extremely private about it all, except with her closest of friends, saying “long story–it’s complicated!”
For all of us, it can be exhausting. For my husband and I, we have found that some people can be more supportive and helpful than others. For us, the friends who “get it” are friends whose husband had a brain tumor, and another whose child is a pediatric cancer survivor. I had a dance teacher tell me how “stressful” it is for other dancers to not know if Julia will be at dance class so the whole dance team will be together to rehearse. She was quickly enlightened on how stressful it might be to grow up with a chronic illness, never knowing when she might not feel well enough to dance with her friends.
We were lucky early on in this process to stumble upon the autoinflammatory alliance. Their founder and president Karen Durrant is a mom and nurse who has been a fierce advocate for families with autoinflammatory conditions. They have a phenomenal website with resources for advocacy for dealing with schools, tips for injections, school advocacy/504 plans, also a Facebook community.
Julia’s situation has certainly impacted our family, and our perspective. Julia’s brothers are incredibly sensitive young men, and used to instinctively take her blankets to the heater and then to her when she was feeling unwell. Her oldest brother has type 1 diabetes, diagnosed 3 months after Julia began daily anakinra. They would take their morning injections at the same time, and called themselves “the shotters.” We have a skewed perspective on what is truly stressful (only things that are potentially life-threatening), and what is a blessing (a day when all 4 kids are feeling well). We truly seize each “good” day, trying to appreciate and enjoy each healthy moment.
Years into this experience, there are still some answers we may not ever have. But overall, Julia is happy; she is able to dance, giggle with friends, go to sleepovers, and fully live her life. She experiences–and indeed spreads–much joy. that is all we can hope for, and all that we are thankful for.
Thank you Boston Children’s Hospital!