Dear NUCDF,

We just wanted to let all of you know how much our family enjoyed the NUCDF Conference in Houston. This was the fourth conference that I have attended, and it still amazes me how much progress the researchers and doctors accomplish each year! 

We are still in awe at the success of Dr. Tuchman and his team from Children’s National Medical Center, with their ‘Carbaglu’ breakthrough in the treatment of NAGS deficiency. I can’t even imagine how many obstacles their research had to overcome before such a successful solution to the NAGS Deficiency was found. The testimony of the 57-year-old patient NAGS patient at the conference who experienced total relief of hyperammonemic symptoms as a direct result of Carbaglu is living proof that the NUCDF and these dedicated teams of doctors and researchers can dramatically improve the lives of UCD patients.

At the 2005 NUCDF Conference in Houston and over the past five years, we have learned so much about UCDs and acquired many great strategies from the NUCDF team that continually help us with our son, Andrew, who has Citrullinemia.

My son’s teachers are always asking me about what are the TYPICAL developmental problems with UCDs. Dr. Gibbs’ neuropsychological presentation, focusing on his work showing the relationship between high ammonia levels and deterioration of the brain’s white matter (the communication system of the brain), was a huge insight into these issues affecting UCD patients. The idea that executive function is impaired by this type of brain damage is key to understanding the impediments of UCD patients with developmental delays. This fundamental understanding can give much-needed direction for appropriate, successful treatment strategies. Likewise, Dr. Andrea Gropman’s investigations in neuroimaging could help show the extent of neuronal damage in patients with UCDs, thus gaining a more thorough understanding of the long-term effects of hyperammonemia.

Thanks to the advice of Debra Geary-Hook, RD (metabolic dietician, UC Irvine) at the 2004 NUCDF conference, we now have a good plan for times when Andrew gets the flu. We asked our geneticist to write a prescription for a feeding pump and supplies to give Andrew constant, slow nutrition in the event that he gets the flu. Andrew’s dietician gave us a sick day formula protocol. Consequently, we now have a chance to help Andrew fight sickness at home.

This year we learned from Ms. Hook the importance of careful attention to slowly/incrementally readjusting Andrew’s nutrition to meet the needs of his particular situation. This past month Andrew made it through a case of the flu at home largely because of the useful information passed on to us at the NUCDF conferences!

Another important insight stressed at the 2005 meeting was for parents to be vigilant with regard to their child’s development. An infant may be on track developmentally at one year of age, but may not continue to stay on track as they continue to grow. New developmental issues may surface with time, particularly in skills that are not normally manifested early on in life. For example, babies typically don’t start to demonstrate good executive function until they are toddlers.

Over the years Dr. Lee and Dr. Batshaw have stressed the importance of continual monitoring of Andrew’s amino acids ourselves, in addition to our doctor. Every time Andrew has his plasma amino acid levels drawn we request a copy of the results and we chart them to compare levels and notice any trends. Research shows that elevated or depleted levels of different amino acids can give us valuable information (i):

An elevated Glutamine level is an indication of ammonia toxicity in the brain (ii).

An elevated Alanine level is an indication of catabolism—the breakdown of muscle tissue to obtain needed amino acids and/or energy when not provided in the diet. Alanine is a reservoir for excess nitrogen (iii).

Branched Chain Amino Acids (Valine, Leucine and Isoleucine) tend to be low due to Buphenyl use. Using the prescribed amount of Essential Amino Acid Formula (like Cyclinex) can keep these amino acids close to normal. Also, if the BCAA are low, they can be increased by giving doses of just BCAA instead of all the other essential amino acids (iv).

Finally, the most exciting news to us is that Dr. Batshaw has spearheaded the Rare Disease Clinical Research Centers for UCD to collect information for research from all patients with UCDs. Coupled with the research already mentioned, this new Longitudinal Study will likely provide answers to many perplexities surrounding UCD patients and their symptoms, development and treatment. By tracking certain parameters in a large number of patients, researchers can more clearly understand UCDs and will be able to direct the research to areas of greatest need.  We are very excited to participate in the Longitudinal Study in hopes that it will help uncover information and solutions for all urea cycle disorder patients!

Thank you all for your resolute dedication to our cause. The impact of the NUCDF and the outstanding research teams has been indispensable to Andrew and our family. Hopefully our feedback can help you know the information that is valuable to us. Please share these insights with anyone who could benefit from them. I am certain the future will bring us more of the wonderful blessings we have enjoyed since Andrew was born.

In hope and gratitude,

Theresa, Robert, and Andrew Birlson

i.   Normal amino acid levels change for different ages:  under 2 yrs, 2-12 yrs and 12-up. The lab reports should indicate the normal ranges for the child’s age and whether each value falls within the normal range

ii.  Butterworth, J. Inher. Metab. Dis. 21(Suppl 1) (1998) 6-20 WWIEM and Kluwer Academic Publishers

iii.  Lee, Brendan, Advances in UCD treatment and management of UCDs, 2005 NUCDF Conference, Houston

iv.  Lee, Brendan, Advances in UCD treatment and management of UCDs, 2005 NUCDF Conference, Houston