| When Elena was 5 months old, she was diagnosed as failure to thrive. She was in a local hospital for 15 days undergoing what I thought at the time was extensive testing. Well a few weeks later, a diagnosis of glycogen storage disease was made. This had been determined supposedly from a closed liver biopsy. The doctors told us that there were about 9 different types of the disorder and that they couldn't rule out two of the types which could be fatal by age 2. The treatment for GSD is a high protein diet. Elena had a very poor appetite. Thank God I never agreed to tube feeding. We would have killed her. The next step was to either do a muscle biopsy or an open liver biopsy to determine which type Elena had. We opted for the muscle biopsy since that was less invasive. They were going to take a sample from her arm and send it to a hospital in NYC. So, we decided to take Elena to the hospital in NYC. This took place when she was 8 months old. We expected to see her arm bandaged when she came out. Instead they took a biopsy from the front lower thigh of her left leg. Till this day she still has a nasty scar. You can actually see the outline of all the stitches. We believe that she must have moved during the procedure. Well the biopsy actually showed that Elena did not have GSD. But at the time we didn't know that the doctors there ran additional amino acid testing. About 4 months later we got a call from the doctor that the amino acid testing showed a strange unidentified substance. The doctor didn't believe that the results were Elena's because she didn't have episodes of vomiting or unconsciousness. She was lethargic. But that is a symptom of many disorders. So he asked us to come in and have the tests repeated. He said the reason they ran the amino acid tests in the first place was because Elena was "floppy" and had peculiar looking hair. Her hair was very close to the scalp and patchy. It was dry and coarse. The results came back the same. She had some type of a metabolic disorder, but the amino acid could not be identified. The doctor advised me to keep Elena on a low-protein diet and continue nursing her until the proper diagnosis was made. Well it wasn't until Elena was 22 months that the diagnosis of ASA was made. Back then the treatment was very conservative. Elena was placed on 1/8 tsp of arginine hydrochloride a day (that's about 1/3 gram) and only 8 grams of protein a day. We were really starving her brain. Her blood ammonia more often than not was over 150. Past 200 she would wind up in the hospital for observation and/or an arginine IV. Elena�s episodes of high blood ammonia occurred more frequently. The local doctor and the doctor in NYC did not agree on the treatment. My doctor from NYC was very conservative. The local doctor wanted to give Elena more arginine. The NYC doctor was afraid to do this because he said that autopsies of babies with ASA showed an accumulation of argininosuccinate in the brain. The other doctor believed that it was passed in the urine. We had to make a decision as to which doctor we were going to follow. We stayed with the NYC doctor. When Elena was almost 7 yrs old, she had a crisis which put her in the hospital. And just when the doctors thought that her blood ammonia was stable, it was around 80, she went into a metabolic coma. She was in a coma for 4 days. The doctors did not think that she would wake up. They didn't know why it had happened. Other than a mild sore throat there was nothing wrong with her. Her symptoms were similar to Reyes syndrome. They had put a bolt in her skull to monitor the pressure on her brain. I never left the hospital. It was all up to God. On the fourth day, we had a TV next to Elena. Sesame Street was on. They had told us to keep talking to her. The doctor believed that even though she was in a coma, she could still hear voices. Miraculously she woke up and started singing one of the songs on Sesame Street. After the coma, Elena�s treatment was much more aggressive. The arginine was significantly increased; though I don�t remember the amount. Shortly after the coma episode, Elena developed seizures and till this day is on medication. For about 8 yrs Elena took Phenobarbitol. For the past 9 years, she has been taking Tegretol. In the past year, she has been hospitalized for Tegretol toxicity so the Tegretol dosage has been slightly decreased and Zonegran has been added to the drug regimen. The seizures range from partial complex to grand mal. She has not had an episode of high blood ammonia since 1995. Elena started special education school when she was about 2 1/2 years old. She is developmentally delayed in all areas. Elena graduated with an IEP (Individualized Education Plan) diploma when she was 21 years old. She currently attends a day habilitation program in which the emphasis is on learning new skills, socializing, and achieving greater independence. There, she receives a small stipend for her volunteer work in the community. Elena is a very happy, sociable, loving adult. Her recreational activities include dance lessons, bowling and swimming lessons. She enjoys TV, music and computer. Our prayer is that she stays happy, healthy and continues to gain a little more knowledge every day. Elena's Information as of April 2004 Contact person: Annette DeFilippis E-mail: [email protected] Birthday: March 5, 1981 Home: Floral Park, NY Age at diagnosis: 22 months Other diagnoses: Seizures Siblings: AnnMarie (unaffected) Protein Allowance: 50 grams per day Danielle, age 16 (ASA) Weight: 137 pounds Medications: L-Arginine, Tegretol-XR, Liver Status: Liver not palpable, enzymes elevated Zonegran, Multi-vitamin, Vitamin E, Iron, Developmental Status: Delayed Calcium |
| Elena DeFilippis |
 |
 |