The Supreme Court’s Decision: Impact on the Rare Genetic Disease Community
Part One
I am the father of a child suffering from a severe degenerative genetic disease; a disease which carries a constellation of medical complexities, a terrifying disease with no treatment or cure. I am so scared.
We worry about every medical piece of her genetic puzzle, each of which catastrophically collides into one little girl’s body and brain. My paternal heart breaks more and more with every moment that passes without treatment.
As I watch her get older the fear of Susannah’s future is completely overwhelming, and the mountain of change feels steeper and steeper with every setback. Birthdays become more of a relief than a celebration because time is as much our enemy as nature. While her level of cognition is stagnant, our amazingly brave and joyful eight-year-old grows into her female body.
Like many parents who share this uncertain reality, one of my two worst fears is that our daughter will outlive us. My other excruciating fear is that she will not outlive us.
Our daughter has severe intellectual disability and requires around-the-clock care. If we die, she could land in an assisted living facility without the constant protection of our watchful eyes and tight hugs. There are too many horrifying instances to cite where girls and women with severe disabilities are sexually assaulted in assisted living facilities. Too many situations where our daughter, and others like her, are susceptible to the most unthinkable experiences. Unable to speak, unable to move, unable to fight back.
We can never die because of the reality our children face; and that reality became even more frightening in these past few days.
When I let my mind wander into a future without life-changing treatment for Susannah, I close my eyes and see an older version of my wife, my son and me sitting by her bedside, still able to be with her twenty-four hours every day to keep her safe and hold her hand. But what if we die first? What if, while we’re driving to pick her up from therapy, our car flies off a cliff and we die? What if we get cancer and die? What if she is left to live alone in a care facility without us there to protect her. What if one of us is not sitting by her side every minute of every day? People like my daughter are unable to prevent situations that place them in the most dangerous circumstances; situations in which girls and women with severe medical, cognitive, and physical disabilities are horrifyingly vulnerable to.
I have never articulated that devastating fear I have for our daughter and others like her, so these are very hard words to write. But words we are now forced to write, and a conversation our community is now forced to have because of yesterday’s decision made by a group of primarily white, privileged policymakers who don’t have to rely on Medicaid. Who don’t have to take second mortgages on their homes to pay for special needs education and accessibility. A Supreme Court whose families don’t have to sacrifice everything to drive discovery of treatment for diseases that don’t have any. A decision made by a body of elected officials who refuse to be a voice for people living with rare and genetic diseases, diseases that have stolen the voice from patients in our community. This impossible discussion between families and physicians of individuals with severe medical problems and profound intellectual disabilities is now forced upon us. We are forced to have this conversation because it is painfully clear that we will never be able to trust our weapon wielding-rights-stealing public servants to protect our daughter and to ensure her medical needs are met, even in the most gruesome of circumstances; circumstances that happen daily in America and remain hidden under the veil of failing healthcare for people living with intellectual disabilities. I am so scared.
Our broken hearts will never heal from knowing she will not have children of her own, that our daughter will never know the bliss of parenthood. She physically will never endure pregnancy, and emotionally she cannot grasp the concept. Even if treatment comes tomorrow, KIF1A has stolen the joy of parenthood from her. Her body is too riddled with disease, her communication is too compromised, she is losing her vision, and her brain continues to atrophy. If one of my greatest fears becomes reality (the fear we are now forced to talk about, but I’m too scared and angry to articulate), a medical procedure needed to save our daughter’s life in the most unthinkable situation is no longer one of her fleeting rights as an individual with severe disabilities. Yesterday the decision every caregiver, girl, and woman is often forced to exercise (and the right so many pioneers fought to ensure), a life-saving medical decision that should be made with the sole consideration of her health has been ripped from her.
Today, parents of children who do not have the capacity to make decisions for themselves are saddled with another enormous burden: our children with significant intellectual and physical needs do not have access to a life-saving medical procedure. If I’m dancing around the words in this terrifying and critical conversation, I’m sorry. It hurts too much to type words our failing justice system is forcing me to write. Words of violence enacted on children and adults with rare diseases like our daughter’s. Gruesome words of silent rape and abuse. Words describing even more catastrophic events than those already in our rare disease lexicon. Words every family fears, and words that incite a violent streak of protection deep inside of me. The loss of a family’s right to access critical medical care in the most dire and brutal situation is atrocious and inhumane. These are words no parent -no human- should ever be forced to articulate because of an archaic decision made by an archaic Supreme Court.
We can’t die. We can’t die because we can’t trust society to care for our daughter when we are no longer with her. That is one of my two greatest fears.
Part Two
A few years ago, our daughter was diagnosed with KIF1A Associated Neurological Disorder (KAND). After relentless and global searching, we found a very small group of parents with children affected by the same disease. We all galvanized to start a foundation and build a community. Our hope was (and our mission today remains) to find others and raise funds to accelerate research and discover treatments for our children. Our community, like our kids, is tough as nails and will never give up.
It never occurred to me that, as community leaders, newly diagnosed families would ask questions about planned parenthood and the difficult decision of terminating pregnancies.
Our daughter was born with a spontaneous, non-inherited mutation in her KIF1A gene. A mutation that causes a severe and neurodegenerative disease. The nature of her mutation is not a hereditary one; it is a de novo mutation which nobody in our family is affected by. When one thinks of the word “genetic” the first thought might be of a disease passed down by a parent. That’s not always the case, and it wasn’t the case for Susannah. She’s the only person in our family with this mutation, and it doesn’t affect her parents or her sibling. If my wife and I chose to conceive another child, the disease would not affect him or her. We quickly learned that within our community there are some families that have children with hereditary mutations; disease-causing changes in KIF1A passed down by one parent.
One family’s genetic origin of disease is not more profound than any other family’s, and the disease is not a result of any parent doing something “wrong.” People have no control over their genetic makeup, inherited or otherwise. However, families with hereditary mutations in KIF1A have an added burden to an already impossible situation. Some families in our small and remarkable community are faced with extremely difficult decisions surrounding pregnancy.
For families dealing with hereditary mutations in KIF1A, there is likely a 50% chance their child could be born with the disease; a disease that is often fatal early in life, and a disease that can be so severe with outcomes that drastically alter quality of life for every single member of a family. Knowing the countless heartbreaking medical complexities people born with KIF1A (and other genetic conditions) encounter, there are situations when families affected by a hereditary cause of disease face the private and difficult decision of terminating pregnancy. The decision to continue a pregnancy when a family learns there is a 50% chance the baby will be born with a degenerative, severe disease and possibly a short life filled with pain (and no available treatment or cure to change that fate) is not trivial. That private choice is a medical procedure parents absolutely have the right to freely consider with their physician and family.
The choice certain families in our community are forced to consider is a personal decision. A decision hopefully made with deeply informed medical guidance, genetic counseling, and community support. Regardless of circumstance, it is the family’s right to choose. It is that family’s decision to make.
To be very clear: our rare disease community of remarkable humans, physicians and advocates completely supports a family’s right to make informed, responsible decisions about health and family planning. Terminating a pregnancy is a medical procedure, full stop.
The Supreme Court’s decision to overturn Roe v. Wade has significant consequences for women and families living with hereditary genetic diseases. It is not a matter of policy. This decision has triggered myriad public health crises, and one of those crises immediately effects the genetic disease community. This crisis is compounded by the fact that diseases like KIF1A have no approved treatments or cures. Because of the significant medical need for treatments and equitable access to therapies, the future for children in our community is fraught with gut-wrenching decisions surrounding every element of life. Today, families in our community are not only faced with non-existent treatments and cures; however, a new element has been inflicted on women and families affected by hereditary diseases. These members of our community, these families we love, are entitled to be informed, supported, and counseled about their right to safely terminate a pregnancy.
As with most policy decisions, the rare and genetic disease population is an afterthought. Yesterday’s decision is unjust, has reversed 50 years of precedent, and adds a heavy burden on the shoulders of patients and caregivers. Shoulders that are already so tired, so scared, and barely holding it together just to keep hope alive and well. One more fight added to the long list of broken policy, social, and medical infrastructure that our patient community is tasked with fixing.
We have enough to worry about, and too many pioneers fought to take that burden off our shoulders.
We can’t die.
