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
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!