I finished reading a memoir last night about parenting a child with a rare and fatal genetic disorder called Metachromatic Leukodystrophy. (It’s called Harnessing Grief by Maria Kefalas and it was a good read.) Her mom described being told very flatly by a doctor that her toddler daughter had a progressive degenerative disorder and she was going to die. It was a devastating experience for her that colored her entire experience of parenting, as I’m sure you can imagine.
Although Sarah also had a progressive degenerative disorder, from which she has now died, no one ever looked us in the face and told us what to expect from her illness. I know the reality is that no one knew what to expect, and that the data on her rare genetic disorder just wasn’t out there until she was about fourteen, but sometimes I feel like we were gaslighted. How many times did we ask questions about Sarah’s skill loss, regression, and failure to meet treatment and IEP goals? How many different answers did we get about her diagnosis and what it meant?
When Sarah first got a diagnosis of a genetic disorder at age seven, that diagnosis was called “Hereditary Spastic Paraplegia.” We were so confused. How could it be hereditary when neither Max nor I had the gene for it, and we were not carriers? How could it be paraplegia when her whole body was affected? How could it be spasticity when she had dystonia, not spasticity? So many times we were told, Sarah is just a unique presentation.
Now medical science recognizes that children with De Novo Complex Early Onset SPG-4 are a distinct subset of HSP sufferers with a unique presentation. And the parents of kids with SPG-4 in my Facebook group are so savvy. They know all about the presentation of the disease, the regression, the skill loss, the intellectual decline. They talk about these signs in such an educated way.
Sometimes I feel a simmering resentment that we couldn’t be among this group of savvy parents, educated by our doctors, instead of educating them. But after finishing the memoir I read, I felt relieved that no one told me when Sarah was a baby that she had a progressive degenerative diagnosis. Would it have affected my love for her? No. Of course not. But I don’t think I ever viewed her as a dying child, and I’m happy about that, even if I lived in a world of unknowing.
The First Year Without Sarah 