Recipient Stories

Lulu is a loving, curious 7-year-old girl who loves spending time with friends and family, being outside in any weather, and talking about her favorite Disney movies. At eight months old, she was diagnosed with CFC syndrome, a rare condition recognized in the late 1980s that affects 800-900 people worldwide. According to her parents, not much is known about older children living with CFC syndrome, which motivates them to help others battling rare diseases by advocating with NORD (National Organization for Rare Disorders). They do not want anyone to endure the same struggles.

The family’s story demonstrates the ripple effects that rare disease can have on family, emotionally and financially. Lucia was born the youngest of three children and within the first few months of her life, the family found themselves visiting multiple specialists, traveling from one appointment to another, on a costly and exhaustive journey to find a diagnosis and the right care. Finally, after a new doctor recommended genetic testing, they received a diagnosis which brought some but not all answers.

Lucia’s parents, Nik and Meghan, have been instrumental advocates working with NORD to fight for everyone in the rare disease community to have access to the right treatment and care. They help raise awareness of the journey of raising a rare child and the unmet needs in rare diseases. For instance, they have experienced difficulties getting insurance approvals for vital care and services, hardships navigating insurance denials, and financial burdens. From the time Lucia was a baby until she was 3 years old, Nik spent much of his time traveling the state to purchase specialty formula that insurance would not cover and seeking alternative ways through Medicaid and pharmacy assistance programs to get her the food she so desperately needed; in the absence of an autism diagnosis, it has been a huge battle to receive behavioral therapy covered by insurance.

Today, Lucia sees over 10 specialists and takes multiple medications daily, yet powers through it all with grace, which also happens to be her middle name – a providential thing, her parents say, as they did not know before birth that Lucia would have this syndrome. A family care unit, they are in near-constant caregiving mode, watching in case Lucia’s night-time seizures return, helping with fine motor tasks and speech therapy, and navigating behavioral, feeding, and sensory needs daily. LuLu's siblings even want to learn how to administer her injections and help with other medicines. Following Lucia’s example, they are committed to the present and making the most of every day together while doing the best they can to prepare for the future.

Nik and Megan dedicate their lives to helping others, not only through advocacy but participating in research and connecting with others to share about living with CFC syndrome and other rare diseases. Meghan is an elementary educator, but the challenges of Lucia's needs have meant that she has not been able to return to work in her field. Nik is the priest at the Greek Orthodox Assumption Church in Danbury, Connecticut, and a Chaplain for Regional Hospice. They live with their three children, Thomas, Kalliope, and Lucia in New Fairfield, Connecticut.

There are more than 7,000 rare diseases that together affect 1 in 10 Americans. Cardiofaciocutaneous (CFC) syndrome is rare genetic disorder and one of the RASopathies that is typically characterized by heart defects that are present at birth (congenital) or acquired later; intellectual disability; failure to thrive; short stature and skin abnormalities; a relatively large head (relative macrocephaly) and narrowing of the sides of the forehead (bi-temporal narrowing); and unusually sparse, brittle, curly hair. CFC syndrome is a dominant disorder often caused by de novo (new) mutations in one of four genes called BRAF, MAP2K1 (MEK1), MAP2K2 (MEK2), and KRAS. Some affected individuals do not have a mutation in one of these genes, suggesting that other genes are also associated. Treatment is directed toward the specific symptoms that are apparent in each individual and may require the coordinated efforts of a team of specialists, including surgeries. Early intervention may be beneficial and special services that may be of assistance may include special remedial education, speech therapy, occupational therapy, physical therapy, and/or other medical, social, and/or vocational services.

NORD is dedicated to improving the health and well-being of people with rare diseases by driving advances in care, research, and policy. To learn more: rarediseases.org.