Column 6 min read

Extreme Parenting

How the mothers and fathers of children with ultra rare disorders spearhead their own support and research strategies.

By Kasey Edwards featured image Thanasis Zovoilis / Getty Images

Almost all parents can relate to the intense and sometimes overwhelming compulsion to protect their children. Some parents focus on providing their children with the best nutrition, along with a regimented reapplication of sunscreen just in case. Others let their kids eat dirt to gain immunity or play in the sun (without sunscreen) for the vitamin D. But each of these parents follows particular guidelines in hopes of preparing their child for a successful future.

But what do you do if your child is given a future that offers very little hope of flourishing? What if your child has a disease so rare that there are no therapies on the horizon, and no one is even researching it?

That’s where “extreme parenting” kicks in. As the news spread that we were considering initiating and funding our own research to treat our daughter Robbie’s rare disease called spastic paraplegia- 47 (SPG47) — a genetic disorder that resembles cerebral palsy — a friend introduced me to Andrés Treviño, a pioneer of parent-driven research. Sixteen years ago, Treviño and his wife made the highly controversial and emotional decision to try to save their son, Andy, who suffered from a fatal auto-immune disease. Using cord blood stem cells derived from an embryo selected using pre-implantation genetic diagnosis (PGD), a procedure used to identify genetic defects in an embryo before it is implanted, their efforts proved successful. Their son was given a future he never would have had and their daughter, Sofia, who donated those cord blood stem cells to her older brother, was a hero at conception.

Treviño offhandedly called this “extreme parenting.” Those two words resonated with me because they perfectly describe the moment when, given a diagnosis that can deflate a parent and leave them faltering, a parent ups the ante. After receiving the crushing blow of a devastating diagnosis, they choose to sacrifice their time, their current priorities, and their future financial comforts for the sake of their child. If a parent is driven enough, desperate enough, or only aspires to face oneself proudly when things are at their worst with the knowledge that they did everything they could to prevent this, they embrace the extremes.

When it was first suggested that our daughter, Robbie, might have a genetic disorder, I read an article in People magazine chronicling Kristen and Gordon Gray’s struggle to find a therapy for their daughters’ fatal brain disorder. Both girls were diagnosed with Batten disease, an extremely rare neurodegenerative disorder that begins in childhood. Between sobs, I learnt that the Grays immediately began raising funds for their own research to find a cure, and I promptly donated to their cause myself. Their efforts helped fast-track the development of a cutting-edge gene therapy for Batten disease. In less than two years, the Grays have gotten treatments into human clinical trials.

Unlike the Grays, we needed more time to decide if we wanted to pursue new research. The Grays’ daughters were given a very definitive and terrifying timeline; with Robbie’s diagnosis of SPG47, we were told the trajectory of her disorder was impossible to predict due to its rarity.

Of the few people known to have this disorder, the reports showed non-verbal, severely intellectually disabled paraplegic or quadriplegic children and young adults. Our daughter could be much debilitated, but she was not expected to die.

After hearing this diagnosis, I vehemently cried to my husband that I wished we’d never done the testing. I longed for ignorance — for a few more months or years of unwitting bliss. Calmly and confidently, my husband refuted me saying, “This is something we needed to know. Now we know what we have to fight.” Of course, immediately after, there was depression and grief. Mornings brought an almost tangible weight upon my chest when I awoke. But there was something else creeping in. My husband’s words kept resonating in my head: We have to fight.

Having signed up to follow the Grays’ journey, I received an update a couple months after Robbie’s diagnosis that the Grays had funded encouraging research, suggesting real hope. After treatment, their older daughter, Charlotte, seemed to be getting better. She became more engaged, and her vocabulary had increased. This was progress I never knew was possible. I wanted to learn more about the science behind the therapy. I dared to dream. I had found my guideline for nudging my child toward a healthy future.

In November 2016, together with another couple, my husband and I started Cure SPG47. We raise funds for revolutionary treatments for our daughters. Our search has led us to several other parents who had been isolated just like us. One mother in England, Carina, has a daughter, Maddi, with a stunningly rare form of spastic paraplegia, known as SPG15. Carina has fought alone against this diagnosis. Despite posting on every conceivable rare disease outlet, she was unable to find any families coping with SPG15.

Carina travelled all over the world in search of a treatment but left each appointment feeling dejected. She resolved to fundraise and create her own. The gene therapy research she has started is many months in. She also works tirelessly to both raise funds to complete research and to find more cases of SPG15 out there. Her determination is indefatigable. She inspires me.

As our own research options narrowed, we learned of Talia Duff, just minutes from our town, fighting her own ultra-rare demon, CMT 4J. The Duff family had just started their journey when I contacted Talia’s mom, Jocelyn. I was grasping for knowledge and wanted to know as much as I could about gene therapy. Though incredibly busy trying to save her own child, Jocelyn wrote extensive responses to help guide me. Their website mentioned a book, The Forever Fix, and I promptly relinquished my monthly book club book and engrossed myself in the pros and cons of gene therapy. I was terrified, and transfixed.

I realized that gene therapy research required a staggering amount of money. And it all had to be collected in a short period of time. We sought out advice from Glenn O’Neill, whose daughter’s story went viral, raising a stunning amount of money for the nonprofit they created, and helped fund a Sanfilippo Syndrome clinical trial. Preparing for Eliza’s potential therapy to stop this vexing disease in its path and willing to take no chances, they took extreme parenting to its highest level, living in isolation so as not to risk Eliza’s chance at joining a clinical trial. Eliza received her treatment and has started first grade. She is trying to regain lost skills, and her parents remain hopeful. Eliza expresses happiness and well-being.

Each conversation I had with these extreme parent warriors gave me new strength. They also gradually led me to an unexpected clarity. Children diagnosed with ultra-rare diseases are the underdogs. They don’t have the global recognition that comes with a large patient population. But we, the parents of children affected by very rare disorders, are definitely not underdogs. We are strong. We are tenacious. Our commitment is unwavering. We may not have scientific articles or parenting blogs to definitively guide us, but we have resources. The support and encouragement is there, as friends, family, and strangers have proven to us time and again. Our goal, like every parent, is to see our children succeed. Our measures to get there, however, are extreme.