Support from the Board

The following members of the NUCDF Board of Directors are available to provide both urgent and non-urgent guidance and support:

Cindy Le Mons - Executive Director of NUCDF, RDCRN for UCD liaison:  Cindy has extensive knowledge of each Urea Cycle Disorder, treatment protocols and resources. Her nephew, Tyler, born in 1994, was one of the first male infants with zero enzyme neonatal-onset OTC deficiency to survive neonatal hyperammonemic coma.  By four months of age, he had met appropriate developmental milestones, but suffered severe brain damage after receiving the pertussis vaccine. Tyler beat the odds for seven years, but passed away in 2001 from complications after receiving an antibiotic. Cindy’s grandnephew, Matthew, was prenatally diagnosed in 2001 with the same severe zero enzyme OTC mutation. In an effort to save Matthew’s life, Cindy and her family assembled a team of UCD experts to formulate a pioneering treatment plan to be instituted at his birth, before elevations of ammonia could occur. The plan was successfully initiated within an hour of his birth, enabling Matthew to avoid suffering any hyperammonemia in the neonatal period.  He is now 3 1/2 years old and thriving, attributed to his optimal medical and nutritional management. He has never been hospitalized for hyperammonemia.  Cindy can help families contact UCD medical professionals and network their physicians with experts, provide information and guidance, treatment protocols and resources to families and professionals, aid in family awareness and education, and network families together for support. 

Eva Oseland Eva's son, Tyler, was born in 1994 with zero enzyme neonatal OTC deficiency, diagnosed at three days old, and survived an ammonia level of 1400.  He passed away in March 2001, just short of his seventh birthday from complications of a high sodium level after receiving antibiotic therapy.  Because of the severity of Tyler's disease, Eva became very knowledgeable about the nuances of dietary management and the medication regimens for OTCD.  Her grandson, prenatally diagnosed and born with the same mutation, was treated at birth and has never suffered hyperammonia due to his optimal medical and dietary management.  Eva can help families understand the rationale behind nutritional regimens, discuss feeding and developmental concerns.

Tresa Warner  NUCDF  President:  Tresa’s daughter, Lexi, is 8 years old and is affected by OTCD. Lexi was diagnosed at 14 months old after 5 months of doctor visits. Lexi has endured many hospital stays to finally be healthy and happy. Lexi has a G-tube and is active in school and weekly dance classes. Lexi's' 3 year old brother, Carson, is unaffected. Tresa can help with feeding and G-tube issues, insurance issues and is happy to discuss school and developmental topics. Tresa is committed to helping parents with urea cycle disorders. She says, "I hope to serve NUCDF like the angels there that helped us in the past."

Lori Shockey  Wayne and Lori have one son, Nathan, born in 1995, and a daughter, Sarah, born in 2001. Nate has Citrullinemia, and was diagnosed at 11 days of age. He is funny and loving and a joy to everyone that knows him. Nate suffered hyperammonemic coma before being diagnosed and has some resultant brain damage, characterized by developmental delay. Lori has become well versed on Early Intervention, IEPs and developmental issues. She serves on her community’s ARC board, and actively works with local universities to help future medical and educational professionals better understand the needs of children and families with special needs. She also founded a support group in her community for parents of children with special needs. Nate has a G-tube used only for his medication. Lori has also been actively advocating for comprehensive newborn screening in Ohio. She is happy to discuss any of these issues, or just lend an ear if someone needs some support.

Paula Susi  lost her eight-year-old daughter Marlaina in October 1999, when her first hyperammonemic crisis from late onset OTC deficiency proved to be fatal. Unfortunately, Marlaina was misdiagnosed and did not receive prompt appropriate treatment for her Urea Cycle Disorder. After Marlaina’s death, Paula (an RN) learned about partial OTC deficiency and was instrumental in pursuing testing to confirm her diagnosis. With hope to save other children, the Susi family is active in raising awareness about Urea Cycle Disorders through fundraising and medical education projects for the NUCDF.