Family Support for Urea Cycle Disorders


Urea Cycle Disorder Support Services

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, Leadership member of Urea Cycle Disorders Research Consortium:  Cindy has extensive knowledge of each Urea Cycle Disorder, nutritional and treatment protocols, current research and UCD medications. Her family is also affected with neonatal-onset OTC deficiency and she understands day-to-day and acute management issues and other concerns that UCD families face.  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 12 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."

 

Thank you all for your resolute dedication to our cause.  The impacts of the NUCDF and its outstanding research teams have been indispensable our family.  Hopefully our feedback can help you know the information that is valuable to us.

T.B., USA

We were scared and lost before we contacted NUCDF. Cindy spent hours on the phone with us answering our questions. My husband and I learned more from her about UCD in our first conversation than we learned from our doctors in eight months. Thank you for always being there for us and giving us the knowledge we need to help our daughter live every day with UCD.

N.N., Michigan