- Joy Beth Crownover's daughter, Mia, has lissencephaly, a rare, terminal condition.
- Mia is 9 months old, and most kids with her condition die before they're 10 years old.
This as-told-to essay is based on a conversation with Joy Beth Crownover. It has been edited for length and clarity.
Earlier this month, I was at a Panera with my husband and our 9-month-old daughter, Mia. As we ate, we started talking about Mia's first birthday, coming up in January. But before long the conversation shifted to Mia's funeral: Would we want her cremated? Did we want a public celebration or a private gathering?
These conversations seem at odds with each other but are the reality of parenting a child with a terminal illness. When Mia was 6 months old, she was diagnosed with lissencephaly, a rare genetic condition. Mia's brain is smooth, not ridged and rippled like a healthy brain, and her life expectancy is much shorter than a typical child. Most children with the condition die before they're 10 years old. Our doctors haven't given us a specific life expectancy for Mia, but we face the reality of her death every day.
I saw Mia's diagnosis online when I was home alone with her
My pregnancy and Mia's birth were perfectly normal — in fact, I daresay they were boring. But my husband and I quickly noticed her head was always tilted toward the right. We brought it up with our pediatrician, who thought it might be torticollis, a condition where the neck muscles cause the head to twist to one side. She recommended physical therapy. When that didn't help, the pediatrician sent us to a neurologist, who ordered a battery of tests. At that point, Mia was about 4 months old.
One Friday afternoon, I was at home when I checked Mia's online medical portal and saw her diagnosis of lissencephaly. No one from the neurologist's office had called me yet, and I couldn't reach Mia's pediatrician. I've since spoken with other people who have received shocking diagnoses this way without a call — it seems like a flaw with online medical portals that doctors' offices haven't yet addressed. I couldn't even talk to my husband: He was out getting takeout, so I sent him a screenshot and we each went down the Google rabbit hole on our own. It was a very dark place to be.
That night, we put Mia to bed and started to compare notes. We realized that our lives would change forever. On Monday morning, our pediatrician called us and pulled strings to get us in with a new neurologist since we weren't happy that the previous office never called us about Mia's results. When our new doctor met Mia the week after the diagnosis, the doctor started crying. That's when we knew this was even more serious than we had imagined.
Mia's condition is caused by an inherited genetic mutation
These days, Mia is about at the same developmental stage as a 3-month-old. She has low muscle tone, so carrying her is like carrying a 21-pound newborn: We need to support her head, neck, and body all the time. Baths are challenging because she's too big for the infant bath, but she's slippery in the water because she has no muscle control. It's a two-person job.
Feeding her is also scary. She has difficulty swallowing, and aspiration is a leading cause of death for children with lissencephaly.
My parenting journey looks so different from what I'd imagined. I thought Mia would be in day care by this point. Instead, she has only 12 hours of care each week in one of the few day-care facilities that can give her the attention she needs. I've become Mia's full-time caregiver, juggling three or four medical appointments each week on top of my full-time job.
Mia's diagnosis has even changed how we think about growing our family. Lissencephaly can be caused by trauma in the womb or happen spontaneously. But we've learned through genetic testing that Mia's is inherited. My husband and I both carry a gene that means any biological children we have together will have a 25% chance of the same condition. I would love for Mia to have a sibling, but we're still considering whether IVF — which could detect the genetic abnormality in an embryo — is right for us.
I've embraced my conflicting emotions
Before Mia, I thought special-needs parents were superheroes, but now I know we're just regular people. I have the same challenges other parents do: As I write this, Mia is supposed to be napping, but she's singing from her crib instead.
I recently learned the term "ambiguous loss," which means grief without the possibility of clear closure or understanding. It's so perfect for what I'm experiencing. I love Mia but I also know I will likely outlive her. We're having Mia undergo aggressive steroid treatments, even though they make her swollen, uncomfortable, and cranky. The steroids have stopped her from having seizures, which are a leading cause of death for people with lissencephaly.
Every day is full of pain and grief married with joy. I'm grieving the life I thought I'd have and the child I thought I'd be raising. But as I do that, I'm also celebrating my beautiful and special daughter.