Walking alone – trailing my feet through the sand – feeling the sun on my back – letting the ocean lull me, calm me.
Alone with my thoughts – pensive. Taking a moment in time – this unexpected, unplanned, unanticipated, unwanted time – to breathe, consider, exhale.
Enjoying the solitude, and then realizing. I am alone.
As you may know from reading this blog, Kate has a rare form of mitochondrial disease called SIFD, which stands for sideroblastic anemia, immune deficiency, fever, and developmental delay. At the time of diagnosis, after an incredible diagnostic odyssey, Kate was N=1. Within several months of sharing the information about the recessive genetic disorder that causes this disease, 14 more cases were found, spanning the last 20 years. Only 4 of those children are alive, including Kate and none are in Canada.
Although mitochondrial disease is the broader diagnosis for Kate. Being diagnosed with a mitochondrial disease is similar to being diagnosed with ‘a type of cancer’. There are many different types of the disease under this very broad disease definition. Finding out who you are and what your mito is within that broad description is something only few mito families ever achieve.
When you are a parent, whether of a disabled child, a child with an acute illness, or a typical child, you seek out community. You naturally gravitate toward the park, playgroups, coffee shop seeking the moms like you – getting little sleep, carrying a baby, worrying about typical baby and toddler issues. Parents of children with medical conditions need this community even more, and support groups and very strong advocacy groups have started out of necessity to get important services in place, but also as a means for families to connect, share their stories, support one another in navigating the health care system, and support one another in navigating and understanding their child’s disease. It is group think. It is parallel thinking rather than going it on your own, and it is important to families survival and ability to get through the ‘dark’ times they will inevitably have.
I remember the early days with Kate, the first 2-3 years of feeling absolutely isolated. Struggling with her health issues, navigating the beast of our medical system – mainly alone, trying to stay on top of her ever evolving medical conditions in the absence of a unifying diagnosis. I wanted and needed a community to connect with. I wanted to share with another mom the struggles I was going through, to get advice, to learn from what they had learned, and to have a shoulder to lean on if it was there. Within the first 18 months and into her second year we had a social worker assigned to us, but it was clear her role was mainly to assist with funding related questions and less about supporting us. The isolation I felt was difficult for me. I am not an introverted person, I still hung around with my mom friends in the school yard, and would share what was happening with Kate, but none of them could relate. They were sympathetic and offered words of support, but they were not living it, and could not understand what I was going through. (To be honest, I wasn’t even sure what I was going through).
What I really wanted was another mom (or dad) whose child had the same disease as mine and not knowing what disease my child had, I felt that would never happen for us.
When Kate was finally diagnosed with SIFD, I was excited. We had crossed a threshold and there was now possibility of better understanding how to treat her acute episodes, research could get started to look for treatments, a cure might even be possible at some point since the gene that causes SIFD had been identified. I was looking forward to connecting with other families, hearing their stories, reaching out, and sharing information about how their child’s disease was managed. For many reasons, this did not happen. None of these children were in Canada, the one other child who was died within a short time of being diagnosed. Some of the families did not want to connect, and physicians weren’t always great at facilitating families getting in contact. This all changed for me in April 2013 when I received a phone call from a Canadian doctor. He had a child he had been treating, who has SIFD, and he wanted to speak to us.
I was stunned, and excited, and hopeful. This was the first time a doctor had reached out to us personally, and not through our medical team. He explained to us that this child had suffered undiagnosed for over a year, the child had been sent to the NIH (National Institute of Health Rare Disease Program in the US) for further investigation. At the very end of the visit, just before returning home, a doctor who was aware of Kate’s case saw similarities and considered the same diagnosis for this child. After genetic testing, it was confirmed that this child also had SIFD.
What then transpired was what I had been searching for, a family to connect with. The family wanted to connect with us, they wanted to share stories. We emailed several times and had one long phone conversation, sharing our experiences about our children, remarking on similarities and noting differences. Their child’s disease was more severe than Kate’s and as a result different interventions were being tried. Our medical team learned from those experiences and as a result Kate’s acute treatments changed. I could now say, “the other SIFD family”, and even though we were now only 5 families worldwide, I somehow felt like we were part of a group.
A few weeks ago, after a brief email silence, I heard from the mom. Her child had passed away due to complications from SIFD.
I was stunned. Heartbroken for her and the enormity of the loss of her child.
I rationalized that her child had a more severe form of SIFD, but nonetheless I can’t help but think of how and when this disease will further impact Kate’s life. I felt fear and shock and a deep sadness.
I feel alone again. At the same time, I feel even more determined to reach out to the other 3 SIFD families try again to share with them and establish some connection. Not a connection about mitochondrial disease, hospital navigation, special needs, medical fragility, schooling, therapy, deafness, funding, special equipment etc. I have built up that community in spades, and am grateful to the friends I have in those communities.
I am grateful for the gap they fill for me, for the frank understanding they have of the life we lead, and the compassion they have for the things still to come. For what they share with me. Thank you to those reading this – you know who you are.
I still feel the need to have that connection to SIFD, for others who have Kate’s disease. Who can talk about the treatments they have tried, the research underway, and the uncertainty of this disease. To see myself reflected in their journey. To share that bond no matter how tenuous.