U.S. Markets closed

What Happened After We Were Told Our Daughter's Rare Condition Had No Cure

Kasey Edwards
the author and her family smiling

“Guy! Guy, help!”

I grin sheepishly at the kindly man sitting next to me, looking perplexed. My 5-year-old daughter with a disability is pretending I’m not here – or might be creating the perception that I am simply neglectful, thus needing assistance from this stranger. He smiles, responds to her, and they become fast friends.

Robbie cannot say much, but amusement typically ensues from what she accomplishes with her limited vocabulary, often to my chagrin. I revel in every situation her sweet words put me in, having once believed that Robbie would never talk at all.

Our years with Robbie have been riddled more with concern than not. As an infant, she struggled to feed from a bottle. We were not alarmed, though. Her adorable cheeks and thighs were a testament to her adept nursing. But her distress with bottle feeding seemed to stem from her inability to do so, rather than a personal stance. A subsequent assessment with the Massachusetts Early Intervention program when she was 4 months old startlingly informed me that my daughter was delayed in every category. Before the team left the room, they off-handedly mentioned not to Google her symptoms.

Related:Embracing the 'New You' After Illness Changes Your Body

Minutes later, I struggled to quell my tears as I called my husband, inexplicably wailing, “cerebral palsy! Everything fits. Robbie might have cerebral palsy.” I sniffled, wiped my eyes, and summarized Robbie’s visit. To my dismay, Chris, my pragmatic rock, was alarmed. We mused the cause of Robbie’s condition, harping on the delivery room. We had noticed a change in Robbie’s heart rate that we perceived as distress. We flagged a nurse. She didn’t seem alarmed, but things then happened fast. I heard reference to a short umbilical cord. My heart raced; a good friend had recently faced complications with her birth due to a short umbilical cord, each contraction depriving her son of oxygen.

The source of Robbie’s delays seemed evident. I berated myself for not seeking attention earlier. Complacent in my expectations of professionals, I’d assumed anything important would be addressed. I ached at the thought of my daughter’s struggles being from human error. Despite this, my husband and I clung desperately to the myriad of stories we heard about children who didn’t walk or talk for the longest time but, when they did, they made up for lost time. I couldn’t wait to revel in Robbie’s developmental surge.

Related:To the Parents of a Child With a Rare Disease – From an Adult Who Was Once 'That Child'

At 18 months, our sweet little girl was officially labeled as globally developmentally delayed (lacking in speech, cognition and fine and gross motor skills). Soon after, Robbie had a seizure. MRI results showed brain damage resembling periventricular leukomalacia (PVL), which is common in very premature, low birth weight babies. Babies with PVL have a higher risk of cerebral palsy. We were told this damage likely occurred around the 24th week of pregnancy, based on the size of Robbie’s adorable but disconcertingly microcephalic head. We were perplexed by this new information and I felt sickened, thinking the blame lay on me. I thought I had done something wrong during pregnancy.

Shortly thereafter, Robbie’s shrewd neurologist noted that the root of this damage was likely genetic and advised testing. Months later in our daughter’s geneticist’s office, Chris and I first heard of hereditary spastic paraplegia type 47 (SPG47), an autosomal recessive, neurodegenerative disorder caused by mutations in the AP4B1 gene. Only nine other patients, located in the Middle East, were known to have this diagnosis. They have lost mobility in some or all extremities, are non-verbal, severely intellectually disabled, and live with seizures. We grieved.

Related:The Parenting Clichés That Don't Apply When Your Child Has a Rare Disease

Told that there was no cure, no treatment to stop progression, and no research being done or expected to be done, my husband and I co-founded the non-profit Cure SPG47 (now Cure AP-4) along with the parents of a little girl named Molly with SPG47, whom we learned of shortly after Robbie’s diagnosis. Cure AP-4 has initiated and funded two separate proof-of-concept research projects dedicated to stopping or slowing the progression of SPG47: gene therapy and targeted drug screening that could lead to repurposing FDA-approved drugs for treatment.

We learned the AP4B1 gene works in tangent with three other AP-4 associated hereditary spastic paraplegia (AP-4-HSP) genes: AP4E1 (SPG51), AP4M1 (SPG50) and AP4S1 (SPG52). (Consider each AP-4 gene a tire on a car, simplified a molecular biologist. No matter which AP-4 tire “pops,” the result — presenting symptoms — is the same.) Last year, Dr. Ebrahimi-Fakhari soon established an international AP-4-HSP registry and natural history study, identifying patients worldwide. Distraught parents, in varying languages, began seeking us out for advice and support.

Significantly, most of the 156 newly registered individuals are children between 3 to 6 years old. And, because the brain abnormalities and presenting symptoms are nearly indistinguishable, many have been given a blanket diagnosis of cerebral palsy before genetic testing ascertains the heritable origin.

Excitingly, preliminary AP4B1 gene therapy and very-early-stage drug screening are showing promise towards therapeutic interventions for SPG47. Findings related to SPG47 could potentially pave the way to expedite treatment for the remaining AP-4-HSPs, once enough funding is raised to begin targeted proof-of-concept research.

First recognized in 2011, AP-4-HSP is a newly discovered disease, but it is not a new disease. None of these are. A few registered patients are in their forties, but most are young children. Where then, are the patients between 6 to 50 years old, maybe older? I have my suspicions.

They may be under the care of parents who speculate about the one shattering, likely elusive, event that hampered their child’s life. They might struggle with mobility that came “easier” a short time ago, this latest setback attributed to a growth spurt from which they never fully recovered, their muscles refusing to relinquish spasticity.

They may be doted on by parents who pine for a life not dictated by disability, yet who indelibly adore them. I can’t tell you exactly where these individuals are, but I feel certain their parents live for them and seek any available option to alleviate their adversity. These children, teenagers and adults may not be able to verbalize their need for help, as Robbie does, but I imagine their parents, their heroes, can innately perceive it.

At this very moment, their heroes’ senses are tingling.
A geneticist can help. This research may help.

And our kids and these loved ones, are definitely in need of it. 

Kasey Edwards is Co-Founder of AP-4. Learn more about
the organization and support its mission by visiting cureap4.org.

Read more stories like this on The Mighty:

What 'I'm Tired' Means When You Have a Rare Disease

A Day in the Life Parenting a Child With an Invisible Illness

What It's Like to Live With a Progressive Chronic Illness