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!
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!!!
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!!!
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 ♡♡♡
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)
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!
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, Croy, was born with a urea cycle disorder, OTC Deficiency. We didn't know about this until Feb. of 1999 where he was diagnosed by an amazing metabolic specialist in Atlanta. Once we knew what we were dealing with, we were told to contact the NUCDF.org and we immediately felt the love and help from Cindy LeMons, the executive director. Anytime we have a question, a need, a thought, Cindy is there for us! We attending the 2004 conference in San Diego and our family had a wonderful time. We learned more about this disease, had the opportunity to meet with many doctors and talk with families dealing with the same issues that we were dealing with. My son was doing so well. He was on a low protien, high calorie diet; he was checked quarterly by our amazing doctor, Dr. Kendall and he was only hospitalized 5 times in 9 years. In the summer of 2008, Croy got sick and was taken to Egleston Hospital. He was put on dialysis and was getting well. But on the 9th day, a pharmaceutical error took my son's life. Once again, the NUCDF was there for us. Cindy put us in touch with great doctors during the ordeal and now that we are going thorugh mediation with the hospital, she has been a huge help in making sure that we have the information we need so that this error will never happen again. The NUCDF is like a family to us and we love and appreciate them more than we can ever express.
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.