This is what being a “rare” caregiver is like.
Our daughter, Jane, turns one today, and it’s a giant celebration in our house because of the journey our family has been on with her. During the past year+ I’ve been slowly peeling back the layers of what it means to be a caregiver to a little one with a rare disorder. I hope if you find yourself on a similar journey that our story will resonate and you’ll know that you aren’t alone.
It took a while to realize I was experiencing grief.
Early in the pregnancy, we discovered there was only a 1-2% chance that Jane would ever make it to term because she had a rare disorder. I experienced so many uncomfortable feelings, with anger at the center of most of it. I tend to be an even-keeled person, and I was snapping at my family and locking myself in our tiny bathroom to sit on the toilet and weep. There wasn’t a “right” decision to make, and I felt a deep helplessness. I was also trying to process this huge, life-altering event while caring for a two and four-year-old in a pandemic. Toward the end of the pregnancy, I was fortunate enough to find an incredible therapist who granted me enormous freedom by teaching me about grief. I don’t know why, but I needed permission internally to be ok with some of the hard feelings. Putting it under the umbrella of grief gave me that permission.
The best specialists may not have encountered someone like your child.
The pregnancy progressed in an unexpected way at the 6 month mark, at least according to statistics. Our OB specialist was speechless at the drastic improvements that had happened in utero, but there were questions about Jane’s heart. We established care with Boston Children’s cardiology team and found out she would need heart surgery soon after birth.
Jane on her way to Boston Children’s Hospital the evening she was born.
The night Jane was born, she went directly to the NICU at BCH. We were with a world-renowned pediatric cardiology team at one of the best children’s hospitals in the world. BCH’s tagline is “Where the world comes for answers.” At one point we had a roommate from Dubai who had traveled all the way to Boston looking for answers. Let me emphasize that the care we received was amazing - the point I want to make is that when it comes to rare disease, even the best physicians in the world may not have encountered a child like yours.
My husband, Adam, and I sat down pre-op, Jane just 3 days old, with one of the cardiac surgeons to learn about some potential risks of heart surgery, including chylous effusion. Chylous effusion is an accumulation of lymphatic fluid in the chest cavity and is an uncommon side effect of cardiac surgery. When I asked the surgeon if our daughter was at greater risk due to potential lymphatic differences from her disorder, he reassured us that it was incredibly rare.
This was a pivotal moment in our journey. What I did not know then that I know now: Incredibly rare things happen to those with rare disorders. My caregiver's intuition about this potential risk was 100% accurate, and I will never quiet that intuitive voice again.
Jane and I - the mask is a reminder of the pandemic backdrop to this story.
When your child doesn’t respond to the standard course of treatment
While Jane’s cardiac surgery was uneventful and successful, she did develop a life-threatening and intractable case of chylous effusion in the days following. The flow chart of standard treatment wasn’t working so I sat by Jane’s bedside at Boston Children’s searching the literature, trying to find an answer. I quickly realized that Jane’s physicians were also digging through the tiny handful of case studies because they did not know how to fix this. They were trying to figure out what to do next.
We requested a formal review of Jane’s case at Children’s Hospital of Philadelphia, which has the leading innovative team on lymphatics in the US. I felt a little guilty - our care team was truly incredible, and I didn’t want to offend them by asking for a second opinion. But our daughter’s life was at stake and that overrode any sense of politeness. I was also starting to realize that our daughter needed SOMEONE in her life who would be the expert on HER as a rare patient, and that was going to become us, her parents.
Adam with Jane at BCH.
Learning to say AND
Jane had a 10-week stay at BCH, bouncing between the NICU, cardiac step-down and cardiac ICU. There were many people there for much shorter stays. There were many there for much longer stays. Throughout everything, I learned to stop saying “but”. As in, “Jane is in serious condition, BUT she’s in the best children’s hospital in the world” or “This is really hard, BUT we are lucky to have family support.”
Instead I started saying AND. “I’m angry that Jane’s roommate is already going home today AND I’m so happy for them to have had an easier experience than us.” “I experienced a panic attack today AND I have coping skills that allowed me to deal with it.” Saying “and” meant that I didn’t diminish the hard feelings. Saying “and” meant that I could hold two seemingly opposing feelings and be ok with it.
The hospital stay may not be the most grueling part of your child’s care
In the end Jane responded to the last line of treatment. We are humbled to say that she improved and she came home.
Across the sky bridge, leaving BCH with Jane for the first time.
But then came the feeding and medication schedule (no more of those incredible nurses to share the burden with). Jane came home on a feeding tube and needed to be fed every 3 hours around the clock, with feeds a duration of 1.5 hours. You can imagine how much sleep Adam and I got.
In my sleep-deprived state I was mentally keeping track of feeds, weights, meds, vomits, potential skin infections from the feeding tube, 15 specialists and their appointments, and the list goes on. I was also taking care of a 2-year old and 4-year old as Adam returned to work. When I first learned about Folia, I saw what an amazing gift it could be to caregivers who have such a heavy mental burden.
As a new-ish rare caregiver, I have learned that when you think you have absolutely nothing left in you, you can dig deep and find more. The depth of strength I have found during this past season came as a surprise. But digging deeper time and time again comes at a cost, and eventually there is a crash. Caregivers MUST find ways to rest and gain stamina for another day.
Contributing to rare research is life-giving
Several months after Jane’s discharge, I exchanged emails with one of Jane’s many physicians at BCH, who shared, “Our team learned so much from your daughter and it is already helping us in such positive ways with other babies who have chylous effusions!”
Adam and I sat reading this email and cried. I’ll lean into that concept of “AND” from earlier to say this: We cried because of how hard the journey had been for our family. And we cried because maybe this new knowledge, this new case study about our Jane, could make the journey a little easier for another family.
This is another reason I’m passionate about supporting Folia’s mission. Opportunities to contribute to the knowledge base for rare disease are … well… rare. Folia is empowering patients to both advocate for their own personal care and to advance broader knowledge in the community.
Your child is both rare and ordinary
This idea that our children are both rare and ordinary is borrowed from a book called The Blessing of a Skinned Knee.
Lucky for Jane, she’s the youngest of three. Our five-year old is a wild, rambunctious little boy who accidentally knocks Jane over, tickles her too roughly, gets loud in her face - all to her absolute delight. He is her favorite person in the world. It’s a helpful and constant reminder that while Jane IS rare and has needs that are outside of the norm, we shouldn’t be too precious with her. She is also just an ordinary baby and she deserves to experience being ordinary in all its glory. So happy birthday to our rare and ordinary little one-year old!