Connecticut prides itself on strong schools, world-class healthcare, and a commitment to caring for its most vulnerable residents. We are a state that values education, innovation, and community. Yet for families affected by rare disease and disability, that promise too often collapses at the point of need.
When I held my daughter for the first time, I didn’t yet know that advocating for her would become as necessary and instinctive as breathing. At age three, Lorelei was diagnosed with SYNGAP1-Related Disorders (SRD), an ultra-rare genetic neurological condition that affects every aspect of her development, learning, and behavior. Every day requires extraordinary effort from her just to move through the world, yet she meets each challenge with a joy that reminds everyone around her what courage truly looks like.
With her diagnosis came grief and chronic worry about her future. It also brought me into a community I never expected to join: parents who wake up every day fighting for their children’s right to exist fully in a world not designed for them.
In Connecticut, that fight means juggling multiple therapy appointments, navigating insurance denials, coordinating among specialists, attending hours-long PPT meetings, and advocating for accommodations in schools already stretched thin. We do this while working full-time, caring for other children or aging parents, and holding together our own health. The constant strain and chronic exhaustion families experience is not a failure of effort or love. It is the predictable result of systems that place the burden of survival on families rather than sharing it collectively.
To be clear: the individuals working within these systems are not the problem. Teachers, paraprofessionals, therapists, school administrators, and clinicians routinely go above and beyond for our children. Many are burned out precisely because they are trying to do the impossible within structures that deny them adequate staffing, funding, and support. The crisis facing rare disease and disability families in Connecticut is not caused by a lack of compassion or professionalism; it is caused by systemic underinvestment, administrative barriers, and policy choices that fail to match the complexity of real lives.
Nowhere is this more evident than in Connecticut’s special education system. Despite meeting federal compliance benchmarks, recent state-commissioned reports have made clear what families already know: special education in Connecticut is in crisis. Chronic staffing shortages, delays in services, weak oversight, and ineffective complaint processes mean that students with disabilities often do not receive the supports to which they are legally entitled. These failures are not the fault of educators; they are the result of a system that claims success on paper while families fight daily battles in practice.
As children with rare diseases grow, the cracks widen. Connecticut’s Department of Developmental Services relies on rigid eligibility criteria —often centered on IQ cutoffs — that exclude many individuals with profound functional needs. Families are left scrambling as their children approach adulthood, facing what many describe as a cliff at age 22, when school-based supports disappear and adult services are scarce or inaccessible.
Autism waiver programs meant to provide critical services such as respite, job coaching, and community supports sit with empty slots—not because families do not need them, but because administrative and workforce shortages prevent those resources from reaching the people they were funded to serve.
Against this backdrop, Connecticut has taken a modest but important step by establishing a permanent Rare Disease Advisory Council within the Department of Public Health. The council provides a forum for families and experts to share experiences and make recommendations. Acknowledgment matters. Listening matters. But advisory councils do not provide therapy hours now, staff classrooms now, shorten waitlists now, or fund research now. Without corresponding action, accountability, and investment, recognition alone risks becoming another way to postpone change.
While there is currently no cure for SYNGAP1-related disorders or most rare diseases, scientific progress is not a distant dream. It is a choice. Gene therapies, clinical trials, and natural history studies are already underway. Educational supports and community-based services can dramatically improve quality of life. But these advances require sustained investment and coordinated systems. When states fail to build that infrastructure, families pay the price now —and society pays it later, through crisis care, institutionalization, and preventable suffering.
We often say “it takes a village,” but villages do not function when responsibility is fragmented and accountability is diffuse. When systems are designed to ration care, delay services, and push families into constant advocacy, isolation replaces community. The more we tolerate these failures, the more we normalize a reality in which rarity becomes an excuse for neglect.
It is true that what feels morally urgent to a parent is shaped by love and fear. But moral obligations cannot rest on personal emotion alone. What makes my daughter’s rare disorder a moral imperative for Connecticut is not my love for her —it is the injustice embedded in systems that allocate fewer resources to children who are fewer in number. A just society does not distribute care based on headcount. It distributes care based on humanity.
Lorelei is one of approximately 1,707 people worldwide diagnosed with SYNGAP1-related disorders. She —and the 300,000 other people in Connecticut living with rare diseases and complex disabilities —deserve consistency, dignity, and the chance to reach their full potential. They deserve systems that work, not just people who care. Advocacy cannot remain optional or privatized. Collectively calling on our state government to strengthen special education, reform disability services, fully staff and fund programs, and invest in rare disease research is a responsibility we all share.
Connecticut has the expertise, the resources, and the values to lead. What it lacks is the political will to align its systems with its stated commitments. If we redirected even a fraction of our attention toward building equitable, functional supports for rare disease and disability communities, we could construct something far more enduring than reports or advisory councils. We could build a state worthy of every child who calls it home.
Rachel Milloy Jasiczek, Ph.D. is a professor of writing, rare-disease advocate and grant writer for CURE SYGNAP1, and mother to a five-year-old child with SYNGAP1-related disorders.