The Second Marlaina Memorial March
 
Raises Thousands of Dollars for the NUCDF

The second Marlaina Memorial March, was held on October 26, 2002, in remembrance of eight-year-old Marlaina Susi, who died on October 23, 1999 after lapsing into coma without warning. She was initially misdiagnosed and after her death was found to have partial OTC deficiency.

The benefit walk, organized by the Susi family of Pittsburgh, raises funds for the NUCDF, as well as awareness of Urea Cycle Disorders in the Pittsburgh area, while honoring the life of Marlaina. Much like the first event, which was held in October 2000, the 2002 event was a tremendous success resulting in a gift in excess of $16,000 to the NUCDF, with more donations continuing to arrive.

Over 700 people attended the event, and several hundred more participated by sending donations. For a $10 fee, attendees enjoyed a 2-mile walk along a wooded path at the beautiful Hartwood Acres, as well as complimentary refreshments, music, thirty-six Chinese Auction items and seven Silent Auction items.

The Susi family was once again overwhelmed by the community support as several companies provide corporate sponsorship, and more than 80 local business donated, food, drinks, gift certificates or merchandise. 

Marlaina’s Story

A Tragedy of Late Onset OTC Deficiency
A Urea Cycle Disorder

Marlaina Susi was an active, friendly, bright-eyed little girl who loved life and embraced everyone she encountered. Her genuine affection for people was consistently demonstrated by her natural affinity for anyone with whom we were acquainted. Positive energy flowed from her funny disposition and, like most children, she enjoyed swimming as well as organized activities that included dance, gymnastics, soccer and Brownies. Marlaina loved school and earned above average grades. She was best friend to her older brother Michael and a proud, motherly, big sister to her baby brother Gregory. After being most excited about his birth, she had only a few short months to spend with him.

As parents, Marlaina's friendly, free-spirited nature produced fears of 'stranger danger', which we constantly reinforced. In addition, assuring healthy nutrition proved to be a great challenge. Marlaina was labeled a "picky eater" from a very young age. Suffering from only minor colds, she seemed to be healthy, with no sick-day absences the previous school year. Even at eight years of age, her diet continued to be a challenge. Although fruits (she loved strawberries) were a steady part of her diet, Marlaina's favorite foods were french fries and chips. She did, however, consume some vegetables (fresh broccoli in particular) and received a daily intake of vitamin supplements, so we assumed that she was doing "okay". An aversion to protein then became increasingly evident-to the point of discussion with her pediatrician. On the outside, Marlaina appeared to be a petite, healthy child. Little did we know, Marlaina was born with a partial deficiency of an enzyme involved in protein metabolism-a potentially life-threatening ailment. Inherently knowing what her body could tolerate, Marlaina's protein aversion was a symptom of her disease-a Urea Cycle Disorder (UCD).

Marlaina was getting along as well as any 'normal' child, until she encountered her greatest physical challenge; a viral illness associated with a fever of 102-104F, which lasted three days, followed by croup-like symptoms and a very sore throat. After four days of viral illness, Marlaina awoke on the morning of September 21, 1999, disoriented, with poor balance and holding her head.

Hyperammonemia (elevated ammonia in the bloodstream) was discovered on the first hospital day, and was the stated cause of her neurological symptoms and progression to coma. As any parent would, our immediate request was to remove the ammonia any way possible. We were, instead, directed to "ride the course" and monitor ammonia levels daily. The possibility of a UCD was mentioned on the second day, and we were assured metabolic testing would confirm or rule out the diagnosis. Despite lack of proper diagnosis and testing, Marlaina fought to survive, finally succumbing after thirty-three days on October 23, 1999.

Overwhelmed with grief, we left the hospital without a diagnosis, and agreed to a limited autopsy to rule out a possible mitochondrial disease-as opposed to a UCD, which was discussed on day two. The autopsy was inconclusive for mitochondrial disease and the search for a UCD was never done. Based upon our own research through current, readily available medical literature, we were confident that Marlaina had partial OTC (ornithine transcarabamylase) deficiency, the most common UCD. This prompted our request for evaluation by Dr. Mendel Tuchman, a geneticist specializing in metabolic disease at Children's National Medical Center in Washington DC.

Dr. Tuchman confirmed the diagnosis of OTC deficiency as well as the mutation present on Marlaina's OTC gene; Marlaina's was a 'new' or spontaneous mutation. Subsequently, we (her parents and brothers) were all tested for the disorder, and none of us are affected. The severity of the disease is often related to the degree of enzyme deficiency ranging from total to partial deficiencies.

The urea cycle, a function of the liver, is vital in the metabolism of protein. Our bodies are unable to store nitrogen, an element found in protein; therefore, the excess nitrogen (that which our body doesn't use) must be excreted. The excess nitrogen is converted to urea in the urea cycle, and then transported via the bloodstream to the kidneys where it is excreted. When the body is deficient in an enzyme of the urea cycle, it cannot efficiently remove the accumulating nitrogen, which ultimately forms ammonia in the bloodstream (NH3). This explains Marlaina's aversion to high protein foods, and why she inherently knew to consume only what her body needed.

In addition to the protein aversion, many other children with OTC deficiency experience hyperactivity, or vomiting after a protein load. Some are diagnosed with ADHD or Autism prior to confirming the UCD. The danger in being undiagnosed or diagnostic delay is the potential for a crisis resulting in brain injury or death.
The human body requires calories (energy) to meet its metabolic demand (energy requirement)-due to Marlaina's high fever, her metabolic demand was very high, ultimately exceeding her intake. As her delicate metabolic balance shifted, she began to catabolize, (breakdown endogenous protein i.e. muscle for energy). This process is common to all people when the caloric intake does not meet the energy demand during physical stress or illness. Catabolism is reversed as the illness resolves and food calories are increased. Like a 'traffic jam' of excess nitrogen from the endogenous protein, her urea cycle could not convert it to urea quickly enough, resulting in the elevated ammonia in her bloodstream. Neuronal damage is only one of the many known toxic effects of hyperammonemia. Reversing the catabolism with high non-protein calories, accompanied by ammonia removal by medicine or dialysis would have reversed the process, preventing brain injury and death.

Sadly, Marlaina should have survived her crisis-the form of UCD she had was the most common, and she had only a partial deficiency. If diagnosed, most victims of this type lead normal productive lives well into adulthood. Nothing can ever fill the void or rid the pain of losing a child. However, by understanding and re-telling her story, we can help save another child. Please share her story!