EDUCATION:

A recent survey of parents who have a child with a deletion syndrome revealed that greater than 70% of pediatricians were not familiar with deletion syndromes. While they are rare, it is imperative that professionals and the public alike are familiar with deletion syndromes. Not only does this build support and understanding for those grappling with the manifestations of a deletion syndrome, but it may lead to greater diagnosis and earlier intervention. While the only way to definitively know if someone has a deletion syndrome is through genetic testing, recognizing the array of symptoms that accompany these genetic disorders may encourage appropriate referrals to specialists in genetics. Another branch of our educational initiative is specifically for individuals already identified with a deletion syndrome and their families. We offer direct education in the form of information and referral so that people grappling with a new diagnosis may be connected to the appropriate resources. Lastly, we aim to integrate people with a deletion syndrome as much as possible into their communities. We want them to have lives like ours as much as possible and educating the community and opening doors for them is vital.

ADVOCACY:

Rare Resilience believes it has a vital role to play in advocating for expanded services, genetic testing, and research for deletion syndromes to combat medical isolation, bridge gaps in complex multidisciplinary care, and drive the development of targeted therapies.

A.Expanding Clinical Services
Deletion syndromes manifest in congenital heart defects, immune deficiencies, and affect multiple bodily systems such as cognitive, neurological, and endocrine, leaving serious challenges. Affected individuals require care from a complex, multidisciplinary team of specialists. Rare Resilience lobbies healthcare systems and policymakers to establish dedicated clinics, ensuring patients have access to coordinated, lifelong medical management under one roof.  We lobby for expanded services under Medicaid in every state so that every person who has a deletion syndrome has access to needed care.

B. Promoting Genetic Testing
Early and accurate genetic testing is critical for diagnosing conditions that vary wildly in severity, even within the same family. We are fighting to expand access to genetic testing and counseling to end diagnostic odysseys. This empowers families to get a handle on their healthcare, enables pediatricians to proactively monitor for complications, and helps expectant parents make informed reproductive decisions. It is vital that babies with a deletion syndrome have access to early intervention (EI) services as soon as possible. Research shows that these services are crucial for improving cognitive, motor, and speech outcomes. Because the brain is most receptive to development early in life, starting therapies in infancy significantly maximizes a child’s developmental potential and school readiness. Early intervention maximizes neuroplasticity by promoting healthy brain development during the critical first few years of life, helping the brain adapt around areas affected by the genetic deletion. Furthermore, EI improves long-term outcomes. Studies indicate that children receiving consistent EI are more likely to achieve positive cognitive and behavioral functioning and may reduce the need for specialized education later in life.

C. Advancing Research
Advocacy groups act as the primary engine for rare disease research by funding studies and building patient registries. By collecting patient data, these organizations assist researchers in understanding the natural history of these conditions. The ultimate goal is to move from just managing symptoms to developing actual treatments for the wide variety of symptoms that may occur with a deletion syndrome, and maybe, someday, even cures. We partner with the Every Life Foundation for Rare Diseases to participate in Rare Disease Week on Capital Hill. This is a free multi-day event hosted by the Rare Disease Legislative Advocates (a program of the Foundation) where advocates for rare diseases of all types can come together and make their voices heard. People diagnosed with rare diseases are encouraged to participate in a variety of different educational and advocacy opportunities, and the sharing of personal stories. For those who cannot communicate for themselves, family members, friends, and others with rare a disease advocate on their behalf. By advocating in this area, we are advancing the idea that delays in research lead to a decline of quality of life.

SUPPORT:

The glaring lack of specific support for families facing a new diagnosis, or struggling with an ongoing one, is the reason for this initiative. Our program has a strong educational component as families are often lost and overwhelmed in the beginning. We have personally heard countless stories of parents who were not aware of the benefits or services in which they could partake to improve their child’s life and development. We have heard absolute despair in parent’s voices as they look up their child’s diagnosis and see that they will be facing a life of hardship and struggle, or even a shortened life expectancy due to complications from their child’s particular array and severity of symptoms. Instead of just turning to the internet in desperation, we offer personalized, compassionate, and human connection focused on providing resources for support, education, and direct care for their loved ones.

There are several core therapies for children with a deletion syndrome including speech and language therapy, occupational and physical therapy, and feeding and nutrition therapy. Speech and Language Therapy is essential for addressing delays caused by low muscle tone (hypotonia) or structural differences (like cleft palate), helping children communicate their needs more effectively. Occupational and Physical Therapy focus on improving fine and gross motor skills, like crawling, sitting, and grasping toys, as well as addressing sensory processing issues. Lastly, Feeding and Nutrition Therapy help infants and toddlers who suffer from oral-motor weaknesses or swallowing difficulties so that they can take in enough nutrition to grow and thrive. Some of these types of treatments offer a specialized, condensed, and focused program that accelerates progress, breaks through plateaus, or provides a “tune-up” to prevent regressions. These may or may not be covered by insurance, and the costs of traveling to the locations and staying in rented housing or hotels where these intensives are located, can be cost prohibitive for many families. We offer financial assistance to families so that these treatments are accessible to those in need.

In our ongoing effort to not duplicate services, programs, or efforts of other organizations, we work with other rare disease or deletion syndrome groups as well as specific ones like the 1p36 Deletion Syndrome Support and Awareness. Some of these organizations offer opportunities that we do not offer, like national conferences and opportunities to come together to advocate for policy and research advancement. Our fundraising efforts are aimed at helping support families financially so that they can attend and participate in all types of gatherings for support, education, and change, including national conferences and Rare Disease Week on Capital Hill.

Lastly, a sad, but common reality of deletion syndromes is the aforementioned, shortened life expectancy. Losing a loved one is heartbreaking and so we aim to be a safe, soft, space for bereaved families to land. We will walk with family members as their loved one nears the end of life. We will be with them as they grieve and navigate the landscape of this profound loss. We offer a bereavement program where they may connect with others who have also lost a loved one. We also offer financial assistance to offset first the cost of caring for someone at the end of life, and secondly, the additional burden of financing a funeral, memorial, and final disposition of the beloved one.