2006 NUCDF Family Conference was a great success!
The NUCDF Family Conference was held July 7 - 9 at the Marriott Cleveland - Downtown at Key Center in Cleveland, OH.

2006 Family Conference Resource CD available for purchase

Read: Making Strides— Families and Researchers Share Knowledge

Making Strides

By Theresa Birlson (Citrullinemia Parent)

It is amazing the huge difference a year makes! It is always striking the strides that the NUCDF and their team of expert doctors, researchers and medical professionals make in one year’s time. July 2006 was no different as Dr. Douglas Kerr and his staff at Case Western Reserve University hosted the NUCDF Family Conference in Cleveland, OH.

Dr. Mark Batshaw opened the presentations with an invitation to all UCD patients to join the Urea Cycle Disorder Consortium (UCDC) Research Contact Registry. The studies that are currently open are:

• Longitudinal natural history study for UCD patients.
• Functional Neuroimaging—studying the effects of UCD on brain function.
• Role of cytokines in metabolic crisis–studying how inflammation in the body (infection, viral processes, etc.) may trigger crisis.

The success of this endeavor greatly depends on the participation of ALL UCD patients. Please help move research forward! Contact the NUCDF for the nearest research center and for information on how to join a study.

One of the most interesting and informative presentations at the conference was given by Daniel Urteaga, an OTCD adult who was diagnosed as a child and has struggled with UCD all of his life. Parents, kids and medical professionals were able to ask questions and to hear what Daniel feels like when his ammonia level is increasing. He also spoke about how he has dealt with dietary issues over the years. Several other adults with UCDs added their personal experiences to the discussion. It proved to be enlightening and encouraging for patients, parents and medical professionals alike.

One of the most common side effects of a hyperammonemic episode is damage to the white matter of the brain. Dr. Madison Berl, Neuropsychologist at Children’s National Medical Center (CNMC), spoke about the effects of UCD on brain function, including cognition and behavior, and how it can also affect learning and social functioning. Dr. Berl discussed the importance of the neuropsychological evaluation portion of the Longitudinal Study for UCDs.

Dr. Brendan Lee spoke on “Advances in UCD Treatments and Management.” Dr. Lee gives a talk every year at the conference, and it is ALWAYS full of new and exciting information. This year he spoke of the research focusing on long-term issues for UCD adult patients. As UCD patients live longer, there is a necessity to understand the long-term effects of the UCD treatments and the disorders themselves on overall health. One of the specific studies is to learn how Nitric Oxide (NO) production is affected in UCD patients because NO is critical to many other body functions, including blood pressure regulation. He also talked about the importance of branch-chained amino acids in UCDs, and that new research indicates that additional supplementation may be necessary if plasma amino acid levels indicate a deficiency. Branch-chained amino acids (BCAAs) can be low because of the diet, or as a secondary effect of Buphenyl usage and need to be monitored with blood tests.

Managing illnesses at home is not an easy task for patients, parents or physicians. Irma Payan, Certified Nurse Practitioner of Children’s Hospital of Philadelphia who specializes in metabolics, gave great advice on keys to preventing hospitalizations and ideas on when and what to do if forced to seek help in an emergency situation from a local facility. She stressed that having a PLAN is essential so that in pressure situations making important decisions becomes much more simple, because the choices have already been thought through ahead of time! If you have not yet made a medical emergency plan, review the ideas from Ms. Payan and be prepared for the next time you deal with a serious illness. Her helpful templates for use at the emergency room and during clinic visits are available on the NUCDF 2006 Conference Resource CD, which can be ordered for $7.50 on the NUCDF website at or by mail through the NUCDF office.

Dietary issues are always a concern for UCD patients and their families. Debra Geary-Hook, MPH, RD, metabolic nutritionist form UC Irvine, gave a very informative presentation on nutritional management of UCD patients. Debra’s presentations are always a favorite of our conference families because of the straightforward and practical information they provide (and always humorous!). We learned the theory behind sick-day diets, and she stressed several dietary issues that could easily be overlooked, including the importance of:

• Varied fats in the diet, especially the omega 3s and omega 6s, to support immune and cellular function.
• Antioxidants and Pytochemicals…”Eat your COLORS!” Because UCD diets are so restricted, it is even more important to pay attention to getting the critical pieces of nutrition, like trace minerals and vitamins found in colorful vegetables and fruits.
• Maintaining a healthy digestive tract with the use of live cultures containing lactobacillus acidophilus and bifidus. Proper bowel function is also critical, as ammonia can be produced in the bowel during constipation, and proper hydration is a must.

Although it might not be obvious at first, the reality is that people are plagued with UCDs around the world. We heard the first-hand challenges of a special guest from Sri Lanka, Dr. Mustafa Rayes, who gave us an eye-opening dose of reality from his personal clinical experiences in his poor island nation, trying to save an infant born with a UCD with the help of NUCDF. Many of the facilities, tests, and treatment options which are available in the United States and other well-developed nations are virtually unavailable to the Sri Lankan metabolic patients. Dr. Rayes shared his plans to change this tragic situation by being the first formally trained metabolic pediatrician in Sri Lanka. He just completed his fellowship in England and is returning to Sri Lanka where, with the full support of the NUCDF, he plans to increase the response capabilities at the children’s hospital there.

After reading about all of these outstanding and beneficial presentations from the 2006 NUCDF Annual Conference, make a commitment to attend the 2007 NUCDF Conference. You will certainly not be disappointed!