National Urea Cycle Disorders Foundation

I have three children, all of whom live with chronic illnesses. It is truly amazing to have an organization like this, filled with individuals who possess deep knowledge about these conditions and who have also experienced them personally. Medical diagnoses can often feel overwhelming, frightening, and isolating, but this organization changes that narrative.

NUCDF is committed to raising awareness, providing stellar support to affected families, leading the way in research initiatives, and generally working tirelessly toward a cure for UCDs.

NUCDF is a vital resource for families with urea cycle disorders. Their commitment to raising awareness, funding critical research, and providing resources for those affected is commendable. They offer comprehensive resources, invaluable community support, and access to life-changing research.

This organization is amazing, they put patients first. Their work has made an amazing difference in my nephew’s life.

When we found NUCDF almost 30 years ago it was a light in the darkness. Having a child with a rare disease is a lonely, bewildering experience. NUCDF connected us with others and it was like coming home. Their guidance and support through the years is the main reason our son is alive and thriving today.

NUCDF helped my family when we felt like we were in way over our heads with our newly diagnosed baby. We have the best care now and the community is amazing, always ready to help each other and come to together to learn and drive change.

Amazing support for families going through the diagnosis process and for those newly diagnosed with a urea cycle disorder!

NUCDF literally saves lives. Who they are and what they do has changed our lives and given hope, insight and instruction when it was so needed! When my father died unexpectedly and was then diagnosed with OTC deficiency, NUCDF came alongside and supported us, educated us, put us in touch with experts to make sure we were getting proper care , getting the genetic testing needed and even resulted in educating our physicians. The website provides lifesaving and hope inspiring information. The conferences are not to be missed! The information and networking can truly change your life. Thank you NUCDF for all you do, for raising awareness and support for research that leads to treatment options and someday a cure!

A few years ago I got a genetics exam done and came up with a urea cycle disorders I am just a carrier until a couple of months ago that I had my baby boy who is affected. I was lost since all this was so new to us we really didn’t have any hope so I started seeking for help I knew there had to be someone else that could help us , and for us that someone was ,Tresa Warner . She completely changed our life since the moment I contacted the NUCDF she has always been a great support to our family, since the moment I first talked to her she has always helped us , she has given us the hope we never thought we could have. Going to the NUCDF conferences has given me and my husband knowledge, confidence , and hope ! We would be lost without this amazing team and without Tresa that she has been our angel in this journey! ♥️������

Nucdf is there when no one else is.. diagnosis of a ucd is very difficult and lonely, but having NUCDFmakes those hard days just a little easier .

The National Urea Cycle Disorders Foundation is the main voice worldwide for patients with urea cycle disorders. They provide essential support and information for families around the globe who have loved ones with these very rare disorders. They also are key partners in numerous research projects aiming to improve the lives of patients with UCD. As a collaborator in several projects that I lead, the NUCDF has provided valuable insight regarding the patient and family experience. The NUCDF has also worked closely with me to find and enroll participants for clinical studies. Additionally, the NUCDF has referred patients to me who had symptoms of UCD and needed more diagnostic testing.
Thank you to the hardworking NUCDF team for all you do!

As a parent you want the best possible life for your child.

But when you receive the devastating news that your child has an incurable, devastating metabolic disorder; all you want - or need is to find someone who can relate.

Someone who knows your struggle, who can talk you through the medication, the diet, the routine, someone to support you and your child, to listen, to provide advice on doctors and treatments. But most importantly you need someone to give you hope…hope there is a path forward.

When my family received the news that our child had OTC, we yearned for anything or anyone that could help. After days and days of pouring through medical journals, talking with local medical professionals, and scouring the internet, we found the NUCDF!

That was 2 decades ago, and I can honestly say that if it were not for the NUCDF, their staff and the amazing network of doctors and medical professionals, our child would not be here today. Not only is she alive, but with the unwavering support of the NUCDF, she’s thriving!

My great-nice was born with Citrullinemia ( one of the UCD disorder) and the foundation was super important to us to go this difficult time. As soon as I called the foundation I had an immediate response from the president Mrs Tresa Warner and it was our best support! She connected my niece Laura to the bests doctors in the time USA and we start to see the light in the tunnel. Today Laura is doing super well after the liver transplant. With the help of the foundation we could go through this rare genetic condition path. Forever grateful for the support we got from the NUCDF.

Parents & family members can both get connected through this life-changing foundation!

Thankful our family found this group 25 years ago when our niece was only 1 yrs old. NUCDF believes in walking alongside families to educate & advocate for loved ones affected by a Urea Cycle Disorder.

NUCDF was our lifeline after diagnosis many years ago. Their commitment to the community is constant. I know the NUCDF will have the trusted resources families need to make treatment decisions. Thank you NUCDF.

NUCDF’s leadership in helping patients and driving research forward has made a huge difference to the urea cycle disorder patient community. Their support has saved my nephew’s life more than once. Thank you for all you do.

The NUCDF was my first point of contact after my son was born with a rare and almost fatal Urea Cycle Disorder. The organization was instrumental in providing me with information regarding his specific condition, the very best doctors to contact and how to care for my son and recognize the invisible symptoms of a UCD.

Prior to social media, the NUCDF was also the hub of all contact information, which provided every UCD family with the wonderful opportunity to connect and share experiences and knowledge amongst each other. To this day, it continues to do so.

It is only through the hard work and diligent efforts of the NUCDF that necessary things such as: medical symposiums were sponsored, the Urea Cycle Disorders Consortium was founded, it was advocated that UCD’s were mandated on state newborn screening tests, critical research was conducted to understand and manage UCD’s, new and life saving UCD drugs were developed and FDA approved and so much more. In addition, the NUCDF, and the families associated with the organization, is the one and only driving force for raising awareness for this rare condition.

The NUCDF is the only organization, in the world, solely dedicated to Urea Cycle Disorders and is the lifeline to the UCD community.

My son was born with OTC in 1981. Those were the dark ages of urea cycle disorders. One of the first things I asked was to communicate with another parent. I thought & still do that that is crucial. A few years later a few parents, myself included, were invited to attend a NORD meeting in VA. At that time we started the NUCDF . We all thought families needed a place for communication & information. I am a past President of NUCDF& consider it to be one of my best accomplishments. My hope is that I live long enough to see a cure.
NUCDF has provided help & inspiration for many. Hopefully, that will continue .

NUCDF has been a vital part of our lives since receiving our OTC Deficiency diagnosis. The foundation has provided resources to any and everything we have ever needed. They are truly a comfort and always willing to help. Literally, one call or email away and always have the best care, patience, and support. I have received help with understanding our urea cycle disorder, help with meal plans, help finding physicians locally and out of state, and help with medications. NUCDF is not only a foundation for us but family. They have truly been with us every step of the way and their support is invaluable.

My Experience with the NUCDF has been exhilarating. About 3 years ago my eyes were opened in a way that promoted so much awe and growth. I was not the only one affected by UCDs, other people were too and In fact there are experts in the field. Everyone is very great and welcoming. I have never told my story with such a willingness as when I am around individuals in this organization. Meeting people is so easy, and playing a supporting role in their journey is a privilege. The annual events are always so well coordinated with an true and open dialogue. I plan to be involved in this organization for many years to come!

My sweet baby girl, Mary Dabney. We had been to the hospital so many times. She slept more than a baby should. Every time she closed her eyes to sleep we were scared. Would she wake up? She was so pale, sometimes grey even. She was so small—“failure to thrive”, “infant not gaining weight”. There were five episodes over two years where she slept for days; once she slept four days and nights straight. She didn’t eat. At all. They said it was food allergies. Then concluded her commas were migraines. No.
Doctors were "not optimistic" and not sure what was wrong. Until finally we had a diagnosis just after her second birthday. OTC Deficiency. That gave us a path.

But it looked so grim from everything we could find. We cried and cried and didn't sleep, desperate for answers and hungry for hope. To the exclusion of almost everything, I searched the internet endlessly for any shred of optimism. I stumbled across the NUCDF.

Cindi responded immediately. Our angel. She said You Can Manage This. No one else had said that. Our shoulders dropped, our breaths became deeper and we no longer felt like we were suffocating with paralyzing despair always fearing the worst.

Mary Dabney is now three. She has a feeding tube, the right medicines, and a diet we can manage. And a new NUCDF family. This year, she’s gained 20 lbs. She’s happy! She has energy! She sings and dances! We are so lucky and fortunate to have found the NUCDF.

The dedication, responsiveness, resources, and knowledge of Cindi and the NUCDF is unparalleled. As is the hope they provide. NUCDF gave us such hope. What a powerful, priceless gift. NUCDF gave us empowerment. There were times and will be times ahead I have to fight for my daughter. How phenomenal it is that I don’t have to do it alone. I have the gift of Cindi and the NUCDF. And I am forever grateful.

I have been working with NUCDF for the last several years on a collaborative, patient-centered research project funded through the Patient-Centered Outcomes Research Institute (PCORI). The project aims to describe the parent experience in making difficult and complex treatment choices for children affected by UCD. Their consistent engagement and leadership in this project has been at the crux of our success as a research team. They have helped us, as researchers, better understand the needs, priorities, and concerns of the patients and families they represent. Patients and families affected by UCD have also been eager and willing to participate with us in our research efforts, which has strengthened our ability to conduct a rigorous and meaningful study. I credit much of this to NUCDF and the work it has done over the years to build both credibility and trust within the UCD community. Many of the families we interviewed as a part of this project pointed to NUCDF as a life-saving resource. Through our collaboration, I have witnessed the invaluable role NUCDF plays in the lives of patients and families and feel lucky to have had an opportunity to work alongside this organization in an effort to improve the lives of those affected by UCD.

NUCDF has impacted my life in a way that words cannot really convey.

My first contact was shortly after the death of my father. He died in 1999, at the age of 62, after short, unexpected illness. He was traveling, thought he had food poisoning, lapsed into a coma and died 3 days later. As a part of his autopsy, liver tissue was sent to Dr Mendel Tuchman, who diagnosed OTC deficiency. Genetic testing revealed that my youngest son also has OTC deficiency. While searching for answers, I found the NUCDF website.

Cindy Le Mons responded to my email not with a sentence, or a link or with a reference to general informational sources. She responded with a very long email, asking questions, offering empathy, giving me much needed information and linking me with others who have walked this path. We also talked on the phone. I know she has done this for hundreds of others, but, it was if she had all the time in the world, to help me in any way I needed.

A year or so into this journey, my son’s geneticist recommended invasive testing because he doubted that my father really died of the OTC. Subjecting my 2-year-old autistic son to a liver biopsy and spinal tap were not on the top of my list, but I also didn’t want to go against medical advice. Conflicted, I once again reached out to NUCDF. Shortly after talking to Cindy, I received a personal phone call from Dr Mendal Tuchman! In no uncertain terms, he explained why my son absolutely did not need this testing, and why the diagnosis was indeed accurate. He even communicated this to my son’s doctors at a later date when they were at a conference together.

Many years later, another call to NUCDF on a holiday weekend helped my sister get connected with a geneticist across the country for her son who was incarcerated and had been hospitalized and was receiving inadequate treatment for his OTC / seizures.

Most recently, my call for help went to NUCDF for another sister who was preparing for treatment for cancer. She had never met with a geneticist or metabolic specialist. Cindy arranged for a phone conference with Dr Brendon Lee. He educated my sister and her husband regarding OTC / Chemotherapy. He advised and expedited a consultation with a geneticist in Denver within the week.

Through NUCDF my son and I got connected with the Longitudinal Urea Cycle research study. We get to directly contribute to the research that is working to improve quality of life and indeed save lives. In addition, we have gained personally from our participation in the study. We are healthier and safer and more knowledgeable. The study coordinators Jan, Christine and Audrey have been directly involved in helping extended family get tested, even when family physicians did not understand the need for testing

And then there are the family conferences. Sitting down with families who walk this same journey and with specialists who treat, advocate for and protect our loves ones simple has no price tag. The teaching at these conferences give a greater understanding of the disease, the testing and the treatment. Participation at the conferences empowers us to take this disorder in stride, to fight hard, remain positive, support each other and to participate together to find best treatment and dream for a cure.

NUCDF is a gift and a treasure. NUCDF saves lives, improves lives and gives us hope for the future! We love you and would be as such a loss without all you do!

As a medical professional who treats individuals with Urea Cycle disorders, this foundation has been immeasurably valuable not only to myself as a physician, but also to the families affected by these conditions. They provide medical and academic support and resources as well as emotional encouragement to parents and family members. They are well-organized, responsive, and passionate!

The national urea cycle disorder is foundation truly exist to help families deal with the deadly your recycle genetic disorder that affects young children, many of whom would not survive out of infancy without diagnosis in part made possible the ongoing help of this organization. Most importantly, the urea cycle disorders foundation supports families and managing their child’s disability until the time when they can get a liver transplant. I cannot recommend them highly enough in terms of the number of caring doctors medical professionals and families who are wish to support those most in need to have the urea cyc most importantly, the urea cycle disorder‘s foundation supports families and managing their child’s disability until the time when they can get a liver transplant. I cannot recommend them highly enough in terms of the number of caring doctors, medical professionals and families who support those most in need correct information medical options, eating plans and ongoing research to cure urea Cycle disorders.

The NUCDF has greatly helped my family!

My daughter's life saving amino acid was denied coverage by my new jobs' insurance, Blue Cross Blue Shield of Alabama. I always struggled to get her Medicaid disability insurance to cover it also. Further, the manufacturers of it, as prescribed by the IU RILEY Hospital, have several times stopped making it, forcing us to scramble by finding small qtys in stock at various distributors or compounding pharmacies. Several times, we had to buy non pure kinds of it from GNC, even though the doctor said she would have to take huge amounts that way.
NUCDF told me of several sources of the amino acid, L-Arginine. These were pure, and reasonably priced also! So my cost went from over a thousand dollars for 3 months worth to less than a hundred dollars! Plus her health is better than ever!
So please consider donating to NUCDF, I certainly am!

While I am not an individual with OTC my wife has had this disorder since she was born. As I am sure you can imagine I knew little of the disorder. I sought out information so I could be conscious about what to expect and what do in case of crisis. The information that the NUCDF provided me was invaluable. I can’t say enough how the NUCDF and its members/families have been so supportive throughout the years. This is a great resource for families!

I'm one of the oldest individuals with a UCD that was diagnosed within the first few years of my life. For most of my life, I didn't know others like me. Then in my 20s, my health took a turn for the worse. My family reached out to the NUCDF and they were there with education and support. Eventually my health improved and today I am living a happy and full life. I've had the opportunity to attend some of the family conferences and chat online with others like me. It has been a blessing to know I'm not alone. This organization is more than a community of people, it's a family. They work with doctors, patients, and lawmakers to advocate for patients. They have helped contribute to medical advances for patients and funds to help those in need.

NUCDF is not your regular organization that helps families .It's core of their mission-vision is family centred. I have a daughter who was afflicted with OTC and for the last 11 years or so and in those years when I need more than the usual help to make a sound decision, NUCDF was always in our midst. Time and geographical location does not come into play even as they were always there when I was in dire need of help. And with my daughter it was always the odd times when she got into crisis . Cindy Le Mons was always there to help . In my opinion she has done so much to the NUCDF family as she treats everyone as her own. Her wealth of resources both info and people have really helped us all. In my family's 11 years of this disorder, I am so happy to inform that my daughter is happy as a "regular" 14 year old 4.5 months post liver transplant. But all this because NUCDF have been there for my family through our ups and downs, laughter's and tears. Thank You Cindy and to all the Doctors and families without all those conferences we won't be as empowered as we are today. We learn so much from you guys...thank you.

Our families experience of NUCDF has been as close to a miracle as we've ever seen. The information and level of support that we have received has been nothing short of outstanding! We have called many times from overseas,desperately looking for advice and clarification of what to do in our child's best interest. Sarah was diagnosed with neonatal CPS1. Through times of intense suffering and despair, crucial information, advice and support was offered to us from NUCDF, in receiving this kind of help we gained a broader understanding of the illness itself and became more assertive in how to try and keep our child as safe as possible. We were also pointed in the right direction to access useful videos and resources. We made the hardest decision of our lives that our child would receive a liver transplant. We are pleased to say that things went well. It has been a life changing experience for our family. We are 100% sure that if it wasn't for the hard work, kindness and selfless dedication of those working at NUCDF, we would not be where we are today. This organisation is worth it's weight in gold!!!! I would recommend them time and time again to any family struggling with a UCD. This organisation gave us hope when hope had gone. It empowered our family to make the best decisions for our daughter! The information NUCDF provided to us was priceless! We are still in contact with them and we sincerely hope that they get the well deserved recognition for what they do and the number of families they reach out to in some way and touch their lives. We know for sure that NUCDF saves people's lives! What could be greater than this? To say how grateful we are, words are not enough!!!

My son Finn was diagnosed with neonatal onset ASA when he was 5 days old. Months later I found the NUCDF through a Facebook Support group. The NUCDF has provided me and family so much knowledge and support. I wish I had found them earlier!

This foundation is so amazing. They held the national conference in Ohio and we attended. This conference literally changed our lives. We learned so much from the doctors, NUCDF staff as well as other parents. Because of this conference it led us to make some huge decisions for our son.

Cynthia LeMons, Is an amazing woman. She has spent hours with me discussing my son and his needs. Talking on the phone with me multiple times and listening to my concerns. She is very knowledgable and so helpful. I am so thankful to have her support then and even now.

I owe so much to Cynthia and the NUCDF. :-)

Nucdf has been such a lifesaver for my family. The knowledge the staff has about OTC and the day to day issues that arise is not only impressive, it makes a real difference in our lives. Cindy has always gone above and beyond to share studies, medication and updated information to us...and in times of real despair, she was the light that gave me hope of being a mother again. Words can not explain how truly amazing she is and how thankful I am to have this family that can relate to what we have experienced.

Not only is the NUCDF an outstanding resource for so many of us but a wonderful support network. They've always been there to answer any of our questions or concerns, put any of our fears to rest, be our champion and advocate and so much more!!! Thank you NUCDF!!!

As one of the original members of NUCDF back more than 20 years ago, I can hardly believe the organization that it has become. From a tiny grassroots organization with a handful of families that could barely make it through the day because their children were so sick, never mind run an organization - NUCDF has become a thriving, educational, research organization of the highest caliber. The quality of care that it gives to afflicted families is bar none and I fully attribute this to its director Cindy Le Mons. Her passion and commitment is unequaled at all levels as exemplified in the hours spent helping family members get the help they need, to her intelligence, diplomacy, and executive business skills. I do not believe that any one individual knows as much as she does about this disease. This leadership has attracted the highest caliber medical professionals. The results speak for themselves. The treatment options available today, are sophisticated and successful to the point that one could say that the survival rate of a child diagnosed with this disease would have almost 100% survival rate. As a family, we know that if we are ever in trouble, any where in the world, that Cindy will answer the phone day or night and get us in touch with the medical professional or treatment we need. We know that the organization is strong and well supported financially, professionally and the interaction between families and the professionals is solid and consistent. This has resulted in new research design, discovery and growth far beyond our tiny numbers.

Nucdf is a godsend! As a mother your world stops turning and you are so scared and lost when your child is fighting for his life in nicu. And then you get a diagnosis you have never heard of, rare disease, life thretening. You try and google, but can't find much, except for old literature wich talk about braindamage, death and disabilities. Then we found nucdf, thank heavens! The support we got was amazing and heartfeelt, it was the latest reserch and a virtual hug that never stops. We still after 4 years living in this ucd world find support, love, advice, the latest research and new friends that might live far away, but are right in our hearts.
I don't even want to think about what our lifes would be without the nucdf ♡♡♡

Hello my name is Christine and I was diagnosed with OTC at the age of 3 1/2 when I ended up in a coma on my mother and now 33 years later I find an organization and people who are just like me and to know that there is someone who understands what we as UCD patients are going through is great. I have been to 2 conferences in the past and learned about a medication that I have been taking almost 4 years now called Ravicti and I am so grateful to all the information I have received. I am a member and will continue to be one and help find a cure for this disease

I would like to thank NUCDF for their great help in a difficult moment for me and my girlfriend's family when we had to deal with cases of OTC disorders. Cynthia was absolutely fantastic, competent and patient to answer all the questions and provide us many useful suggestions to deal with this problem

My daughter was diagnosed with a UCD at 6 months old. In m country, NOBODY knew very well what this was or how to treat it. I contacted NUCDF to learn a bit more about UCD´s, and now, I cannot imagine what it would be of my daughter and me without their support. NUCDF gave us all the info we needed about my daughter´s defficiency and recommended us to doctors who are currently treating her. But the most important thing, NUCDF gave me personally: SUPPORT. Somebody who not only understands, but also informs and cares about you and your family. I would be lost without them and without their lovely Cindy :) //// Ximena Gorostiza, MexIco City, Mexico. (mother of Nicole Vinay, affected with OTC since birth)

I first heard about NUCDF 12 years ago when my son was diagnosed with a different rare disorder that also has hyperammonemia. The executive director was very helpful in explaining hyperammonemia to me and sending us in the right direction. A couple years later, I started a non-profit with other families for my son's disorder. NUCDF has mentored our organization and partnered with us on a number of projects. I am thankful for their advice, support, partnership and friendship. I am a more informed parent as well as a better leader because of NUCDF and would recommend them for 2012 Top-Rated Awards.

My experience with the National Urea Cycle Disorders Foundation has been an absolute godsend! My son has been recently diagnosed with OTC and I had never heard about OTC. The dietitian at the Children's Hospital suggested this site to me and I thank God that she did! It has absolutely been the worst year of our lives! I have learned more from this site than I have from my son's specialist. I don't know where we would be without the support, teaching and kindness from Cindy and the members on this site. This site also keeps us up to date with any new medication and research on OTC. Cindy is very knowledgeable and helpful. Even though I have never met her in person, I truly appreciate and trust her. We truly feel part of the NUCDF family!

The NUCDF has been extremely helpful to our family. We are so lucky to have them as a great resource. I don't know what the families would do with out them. They are there for any questions or concerns you may have and they keep us up to date on the lastest advances being made in the urea cycle disorders. Their conference is family oriented and very informative. Having a child with a rare disease I feel blessed knowing we have the NUCDF.

This foundation has impacted the lives of my daughters and so many children in this world. It has given us so much information and hope throughout the years. The foundation is a gift for GOD for the families who suffer from these horrifice disorders. They helped save our daughters lives.

We celebrated our daughter Cora’s 9th birthday recently and couldn’t help but reflect upon how fortunate she has been. For her, it was not an easy start in life. She came to us as a foster child, along with her two brothers, unsettled and afraid. They were used to being moved from place to place. We soon learned that 4-year old Cora was used to being sick all of the time too. Her behavior was erratic, and she was vomiting daily. Her tantrums were so frightening that we questioned whether we could commit to becoming her adoptive parents. Social Services informed us that they would take all three kids from us if we couldn’t handle caring for Cora. We asked ourselves, “If not us, then who?”
Cora became progressively sicker. She was uncontrollable and inconsolable. When we looked into her sad eyes, they seemed to be full of questions, and we had no answers. Feeling helpless, we rushed her to the local hospital. Before long, she was transported to Children’s National Medical Center in Washington, DC, slipping into a coma and clinging to life. Within less than 24 hours, she was saved by a team led by Dr. Uta-Lichter Konecki and cared for by the most knowledgeable, compassionate medical professionals we had ever met.
Cora had been suffering from hyperammonemia, described to us as a dangerously high level of ammonia in the blood, which is toxic to the body. The condition was caused by a defect in her metabolism known as “OTC” (an acronym for Ornithine transcarbamylse deficiency). OTC is a urea cycle disorder (“UCD”) that, if left untreated, could lead to brain damage or even death. We were told that Cora should be monitored closely on a daily basis, follow a strict low protein diet, and take several medications, as well as supplements.
We were overwhelmed with the awesome responsibility we had to accept in order to keep Cora alive and healthy. Throughout the weeks, then months and years that followed, however, we came to realize that caring for Cora, and others afflicted with UCDs, is a team effort that goes well beyond the walls of our home and the hospitals. Through Children’s National Medical Center, we were introduced to the National Urea Cycle Disorders Foundation (“NUCDF”) and UCD families. Cindy Le Mons is the Executive Director of NUCDF and truly a team leader.
UCD families are faced with many obstacles, and the learning curve is steep. We found ourselves in the precarious position of having to educate others, when we understood so little. Since Cora was still in foster care, we had practically no control over the management of her care. We had to persuade Social Services that she is medically fragile. Despite providing them with proof of Cora’s illness and immediate needs, my employer would not extend my leave, and I was forced to quit my job. Without my income, we had to research funding and programs for which Cora could qualify. When she began having behavioral and learning problems, we had to address those, as well as the diet restrictions and difficulties with administering medications that were unfamiliar to our family and friends, Cora’s pediatricians, and the school.
There were other challenges, and as we prepared to face each one, Cindy Le Mons and NUCDF provided us with a wealth of information and guidance. When we were uncertain, confused or frightened, they were just a phone call or e-mail away. We’ll be forever grateful for each and every answer, shared resource, returned phone call and e-mail, as well as the networking opportunities NUCDF has made possible for us to connect with others in the UCD community.
At our first NUCDF conference, our family unexpectedly shared a table at breakfast with two doctors who were visiting from different countries. They were there to teach and to learn. This time, we were answering the experts' questions since obviously Cora was healthy and happy. At one of the roundtable sessions, we witnessed some of Cora’s doctors and their colleagues sharing their knowledge with others who travelled from around the globe. And we found ourselves sharing our experiences freely and openly throughout the weekend, just as the other attendees did. It was a very emotional experience. At one point, a doctor pulled us aside and thanked us for being there and giving others hope. We had never looked it that way because we were too busy being thankful of others. But, the comment left us with a wonderful feeling that we were making a contribution. It was then that we realized that our family is an integral part of NUCDF’s team effort to save lives, which clearly stretches far and wide.
When we look into Cora’s eyes today, we see beauty and lots of promise, thanks in large part to NUCDF. Just this month, she was promoted to the 4th grade; happily celebrated “bridging over” from Brownie to Junior with her Girl Scout friends; and took 1st place in the first swim meet of the season – in all four races she competed in! Her brothers were teasing her afterwards: “You can’t say you never win anymore, Cora!” Indeed, she can’t.

Our son, Anders, was born a healthy baby boy on 11/2/2010. 36 hours in to his new life, he took a turn for the worst. We were rushed to two different hospitals trying to determine what was wrong with our newborn baby. We finally the confirmation that he did have a urea cycle disorder, which meant absolutely nothing to us, but at least we knew the cause of his ammonia levels of 855 & his comatose state. Through all of this confusion, I'm not sure who, but someone gave us Cindy Le Mons's (president of the National Urea Cycle Disorder Foundation, number. What a relief and savior that had been, finally getting in touch with someone who could give us answers. Unfortunately, Anders only lived 18 short days, but during those chaotic, stressful days, we had someone on our side who had walked in our same shoes. Cindy has been a blessing in so many ways, we cannot even begin to express how much. Anders ended up having OTC and we knew without a doubt we would not go through this sad, painful process again with having another baby, whatever we had to do to not face this for us or another child, we were willing to do. In vitro fertilization was the answer and all we needed was Anders' molecular diagnosis. Luck was not on our side, as no mutation in his DNA was ever found. At this point, I had no idea if I was even a carrier or if his had been a spontaneous mutation with our baby. Even my genectist thought we were at a loss, but not Cindy, she urged us to do a urine test to determine my probable carrier status and low and behold, it was positive! One of the best resources is a support group through NUCDF that encompasses many of us mothers who lost our newborn children to these dreadful diseases. Through that group, I have met people who have shared so much insight & wisdom, including much information on IVF PGD. Due to meeting some of these women, Cindy and their resources, I have realized that there is hope at the end of the tunnel for us and we still are able to have a child of our own with IVF PGD and without OTC! Although it is almost certain that we will have a healthy, OTC free baby, we will still be in close contact with this foundation with testing once we hopefully have another baby to double check the OTC was blocked through the PGD. I am a carrier but also have partial OTC myself, and Cindy has been a tremendous help with advice and knowledge on keeping myself as healthy as possible, especially during pregnancy.
Like I said, there are not enough words in the English language to say enough wonderful things about NUCDF and Cindy! She is one of a kind and as unlucky we may have been in the last several months, we are that lucky to have met Cindy!

This foundation has truly been a beacon of light and hope for our family. Our grandson, Anders Ericson Leon, was born in November 2010 to our daughter, Amanda, and her husband, Eric. To our overwhelming sadness....Anders lived only 18 days. The diagnosis was OTC which none of us had ever heard of before. As you can imagine, we were all on our computers trying to find out as much information as we could possibly find out about this terrible disease and what we could do to save our grandson's life. In our research we got the name of Cynthia Le Mons and the NUCDF. Needless to say, we called her from the hospital and Cynthia spent hours talking to us and giving us information to help us try to understand this disease. Unfortunately we were not able to save the life of our darling angel, Anders, but at least we had found an organization that would continue to support us. My daughter and I have stayed in contact with Cynthia Le Mons and the NUCDF as we have had so many questions about OTC and what the implications were for our future. We know that when we call her....she will respond in a timely manner and when we email her....we know that she'll get back to us quickly. This has given me great comfort during the difficult days that have passed since we lost Anders. Thank you, Cynthia and NUCDF...please know how much you have meant to me!

My daughter has OTC...I suspected it when she was about 7 months of age when I started introducing solid foods to her and she was becoming failure to thrive. I have lost 2 sons to OTC so was very aware of the danger that could lie ahead of us. The thought of having to bury another child was heartbreaking. I was having a hard time finding a Dr who could help me with "Elle". After searching the internet I came across the NUCDF. I was amazed at all the information they had on UCD's. I filled out a contact information on their website and Im not kidding..it wasnt 5 minutes later I received a phone call from Cindy Le Mons...what an Angel!!! She gave me so much information and then came the most awesome question from her.."Are you happy with your Dr"..I replied NO. She then directed me to a Dr. who has been a Godsend! My daughte did a complete turnaround...he and his dietician helped us get Elle stable. I later started displaying symptoms of adult onset OTC, called Cindy about it and she encouraged me to get started on medication too. I feel so much better too. I can call her anytime and she is always there for us. She lets us know all the important information that we need to know concerning our meds, recalls, drug interactions...anything to do with our illness she is there...for the NUCDF is all about finding a cure and keeping us alive..that is their goal! Cindy really loves us all and wants to help us..we can always count of her. She has given us the best Dr. who gives us his 100% to us as does she. I believe in my heart we would not be alive today if it wasnt for Cindy Le Mons. We love you!

My son was in a coma at the age of 8 due to hyperammonia. We had no idea what was happening -- we were fortunate to have a Pediatric Neurologist recall from his early days of medical school training that it was not Meningitis or Reye's Syndrome. He suspected it was a Urea Cycle Disorder. Via Ammonul and 2 rounds of blood dialysis -- his life was spared -- and eventually he awoke from the coma. It was after we received our first shipment of Cyclinex-2 that we found out of the NUCDF and its annual family conference. We attended the San Diego NUDCF and were so thrilled to meet Cindy LeMons! She is a dynamo and so helpful to all families.

My daughter, Margaret, aka Doodle Bug, was born February 6,2003 as a normal delivery. On her first birthday our world began to change. We spent the next 3 months in and out of the hospital. May 5, 2004 Maggie was diagnosed with ASA by Dr. Darius Adams @ the Albany Medical Children's Hospital in Albany, NY. We learned about NUCDF from Albany Med. Cindi LeMons was my first contact. She was kind, reassuring, answered my questions and many emails. Cindi suggested I speak with Jaime, a parent, with an ASA child. Jaime and I have been in touch via phone calls and emails even today. I have attended 4 conferences since the diagnosis. Only once did I go without my family. NUCDF is all about the family and making sure everyone is included. I have written articles for the newsletter, hosted fund raising events thru Pampered Chef and Lia Sophia and help at conference whereever needed. Last year I did a powerpoint presentation at Maimonides Medical Center in Brooklyn, NY with Mark Korson, MD. Cindi, Tresa, the Lebays and other families are wonderful. We feel they are part of our extended family. I have emailed with families in Europe when they needed help and support. I have NUCDF listed as a beneficary on one of my life insurance policies so that I know someone will always be there looking out for Maggie. NUCDF is a wonderful, caring organization that has helped so many and with more funding the possibilites are endless.

My son was born with a very rare disorder. I learned about NUCDF before his first birthday. NUCDF provided a wealth of information, valuable resources and contacts within the UCD community. The first (of many) conference we attended was like coming home to a group of long lost friends. The immediate friendship and support we felt was invaluable. That was over 14 years ago, and that friendship and support continues today. I believe NUCDF is a leading support organization that saves lives, advocates for important changes in the medical community, and offers families dealing with a frustrating and scary disease information, support and a ray of sunshine and hope. Through their tireless work more babies are screened at birth for dozens of treatable disorders, medical staff receive life-saving training, new treatments and therapies are pursued and developed, families are put in touch with leaders in the medical community and each other.

As the former VP of Clinical Operations for a small biotech, I was introduced to the NUCDF in affiliation with my company's UCD research program. Cindy LeMons, as well as several members of the UCD Consortium provided critical input and expert advice to aid in designing feasible studies for this rare and very special patient population. Earlier this year, I stepped down from my executive position in order to devote more time to my personal endeavors including helping non-profits with high impact potential, like the NUCDF. When I attended my first NUCDF Family Conference in June 2008, I not only learned all the ways the NUCDF has supported UCD patients and their families through research, awareness and education, but I had the rare experience of meeting and listening to the testimonies of dozens of UCD patients, their families and the physicians and nurses who treat them. In my 25 yrs of working in clinical research, I had never witnessed such a collaborative and meaningful exchange of data and information with the sole purpose of finding a cure for UCD. That meeting as well as those before and after were made possible by the NUCDF, as well as the testimonies of how the long, loving arms of this special organization has and continues to reach out to the countless children and adults throughout the country who are affected by UCD. I am privileged and honored to be an active donor and volunteer for the NUCDF.