The National Urea Cycle Disorders Foundation has been a great resource in learning all news regarding Urea Cycle Disorders and meeting other families afflicted with the disorder as well. This past summer our family was able to attend the annual National Urea Cycle Disorders Foundation Conference in San Diego, CA. It was such a well organized and informative event. We are looking forward to attending more NUCDF events in the future! God bless you for being such a great resource in helping families going through this scary medical condition.
Below is our son Liam's UCD story:
For awhile I thought about whether or not I should write about this. Then I thought that I should to help bring awareness about it. Last month I experienced the worst days of my life.
During the wee hours of Friday the 13th last month, Liam’s level of awareness/consciousness had changed. The first sign that I knew something was wrong was that he didn’t want to breastfeed. That in itself was a red flag to me since he is always ready to nurse regardless of what hour it is. His overall appearance just looked off. He wasn’t fussy and was still opening his eyes but something just didn’t feel right to me. His breathing was labored , I thought to myself maybe he is working on a bowel movement or having gas. He didn’t feel right in my arms, he wasn’t as active as he usually was. I attempted to clean his nose with a qtip, which when I do he usually makes a big fuss about...but that night..not flinch, not a peep. I tried giving him a bath..just him staring around not moving much. I felt that I should call 911 as a nurse but I am also a mother who tends to over analyze what her child needs at times. I called KP nurse advice just to confirm what my next step should be. All of Liam’s symptoms happened quickly, within a few hours. Based on everything described above, the KP nurse agreed that I should call 911.
I called 911 and the ambulance picked up Liam and I. Fons was at work and luckily JC was over at Grandma’s. At this point Liam was still intermittently opening and closing his eyes, breathing but labored, otherwise his vital signs were stable. No interventions were done, just continuous monitoring. Again, I was questioning myself whether or not the ambulance was necessary. As soon as we arrived at the Emergency Room, my uncertainty disappeared. Lots of ER staff were present in his room waiting for his arrival..I’m sure it’s not too often that 6 week old babies come to ER. Liam was transferred from the Ambulance gurney to the Emergency room gurney...no reaction. IV was initiated, blood was drawn, straight catheter was initiated for urine collection, respiratory nasopharynx culture...all invasive and at times painful procedures..still no response. At this point I was losing it. I was a wreck. I didn’t know what was going on with our baby boy. Fons was just getting off his shift and I told him to come to the ER immediately.
All his labwork was coming back normal. Head CT was negative for abnormalities. He did not present with sepsis signs/symptoms or even respiratory congestion so I knew those were out of the question. Neurology was consulted and then drawing an ammonia blood level was suggested. I would have never thought of ordering that lab for Liam. In my experience as a nurse, Ammonia is usually ordered for liver failure patients or alcohol withdrawal patients. To our surprise, Liam’s ammonia level resulted extremely high, 400+, normal range is usually 90-150 for newborns. High ammonia level in the blood is called hyperammonemia. That would explain his change in consciousness and his rapid breathing. The ER Doctor told us that it is possible that Liam may have a metabolic disorder, more specifically a Urea Cycle Disorder. In my ten years as a nurse, I had never heard of the disorder. He was given medication specific to help bring down his ammonia level. I felt so helpless..possibly the worst feeling in the world when the one that needs help is your child. Liam needed to be transferred to a hospital that specialized in metabolic disorders and had more medication specific to his condition, so we had to transfer from KP Riverside to KP Los Angeles.
As soon as we arrived at KP Los Angeles, we were told that Liam had to be transferred yet again because his ammonia had climbed up to 500+. Liam needed emergency hemodialysis to bring his ammonia level down. KP Los Angeles did not have hemodialysis capability for infants. Some consequences of having a sustained high ammonia level can be brain damage and even death. The Pediatric ICU team at first tried to coordinate a transfer to Children’s Hospital Los Angeles, since it’s the closest hospital from KP LA with hemodialysis capability on an infant. Unfortunately, we were told that CHLA was completely full and did not have a bed available. I was losing it. Liam needed the hemodialysis treatment fast. Thank God for Fons, if he wasn’t with me I would have completely broke down. Fortunately, the Pediatric ICU team was able to coordinate a transfer to an infant hemodialysis capable facility which was still nearby, UCLA Ronald Reagan.
So within a 12 hour span, we had arrived at 3 different hospitals. We were mentally and physically exhausted. As soon as Liam got to UCLA, he went to the Operating Room for emergent hemodialysis line placement and central IV line placement. I still couldn’t believe our boy was going through this. And with a disorder that is so rare. He experienced things that most people would not experience in their entire lifetime. Liam came back to the Pediatric ICU from OR and remained intubated and on sedation. Hemodialysis started not too long afterwards. Liam’s hemodialysis treatment was continuous over a period of two days. The hemodialysis treatment had to be done over a slow rate since he is still such a little guy. Those were the hardest two days during his whole hospital stay. In those two days, he had to be started on multiple IV infusion drips to maintain his blood pressure as well as to keep his electrolytes in balance. In addition to hemodialysis, he continued to be on continuous IV medication to bring down his ammonia level. He was on at least ten intravenous infusion drips at once. He had to receive multiple blood transfusion products because all his clotting/blood level labs were abnormal. His core temperature was dropping to hypothermic levels. He was a 1:1 patient his first night in the Pediatric ICU, meaning he had one nurse solely taking care of him. The next day, he became a 2:1 patient, yes...he had two nurses taking care of just him.
As an ICU nurse, it was a blessing and a curse to know and really understand exactly what was going on with Liam. When patients become a 2:1, you know what the possible outcome could be. But through God’s grace and an amazing medical/nursing/metabolic team-- Liam overcame the odds. Our boy fought his way back to us. His ammonia came down to acceptable levels, he was able to be removed from hemodialysis, and his alertness/awareness improved to even better than before his hyperammonemic crisis. He stayed in the hospital a couple more weeks until the right medication combo/diet was found that would keep his ammonia level at bay.
Liam is home now and we are so thankful to God that our boy is alive and well. Through further testing, it was determined that Liam indeed has a Urea Cycle Disorder, which means his body is lacking an enzyme to rid the body of ammonia, hence his hyperammonemia crisis. He will need to be on medication and a special protein restricted diet the rest of his life to keep his ammonia level normal. It’s an adjustment for our whole family right now but it’s nothing we aren’t able to handle as a team. And God would not ever give us anything we could not handle.
So, if you are to take away one thing from reading Liam’s story, when in doubt, check ammonia. Hyperammonemia is often misdiagnosed and not treated correctly, which can have fatal results..in the newborn period as well as during adulthood. The doctors tell us that there isn’t anything we could have done to know Liam was going to go through his hyperammonemia. It’s scary to know that but we are hoping through our experience we can help more families become aware of this rare condition and will know how to recognize the symptoms and/or know what lab to order if it is suspected.
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.
My daughter Zenia is 12 years old now ...
When she first admitted to the hospital she was only 2 months old just a baby ... and she stayed there 2-3 months .....
We leave the hospital feeling unhelpful alone with many questions....
That was the time I found a big family... NUCDF...
I contact with Cynthia Le Mons at first... and until today is the person who helped me find all the answers about ASA .... and not only that ... She and our Dr.Lee and his team helped me with Zenias exams and they always give me their advices.....and I will never forget the times I felt helpless....alone....frightening...Cynthia was there with the right words to make me feel that I’m not alone ...I have always someone to talk and give me a hug !
So I feel that Im not alone I have a big family called NUCDF and I want to thank them all...
Thank you ...God bless you all....
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.
It's only been a week since we had our diagnosis of CPS deficiency one of the urea cycle disorders that are rare and hard to diagnose. In that time we could help connecting with a physician who specializes in the treatment received encouragement from the national director of the organization and found a Facebook group where we could get more support. I can't say enough good things about this nonprofit except to say that they are worthy of many kudos and donations!
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