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| Danielle |
| Since Elena was 5 months old when it became apparent that there was an underlying medical condition, the consensus was that if any of her siblings had ASA it would present itself the same way. Well after two days mother and child were discharged, and I was told to keep Danielle warm because she was a cold baby. This didn�t send any red flags up at the time because I didn�t know that a metabolic disorder could present with a decrease in body temperature. We were only home one day when Danielle showed difficulty in her ability to suck and she appeared to be lethargic. It was late in the evening, but the pediatrician met us at his office. Danielle�s temperature was down to 95 degrees. He wanted her admitted to the local hospital immediately. My husband and I had a very strong feeling that we should get Danielle to Elena�s metabolic specialist. We drove 45 minutes to New York City to find out that her doctor was out of town, but would be returning in the morning. The emergency room doctors did not suspect ASA. Danielle�s temperature was down to 92 degrees. She was going into shock. Among various tests ordered, a spinal tap was done to check for meningitis. Fortunately, Elena�s doctor arrived shortly and ordered a blood ammonia level. It came back at 450. Danielle was then very unresponsive. The chaplain was summoned and she received an emergency baptism. The prognosis was not good and much against my beliefs, the doctor convinced us to sign an order not to resuscitate if the need arose. Several days went by before Danielle miraculously responded to treatment. I firmly believe that if it were not for Elena, a diagnosis would not have been made in enough time to save her. Danielle was discharged on Christmas Eve and she truly was a gift. Sadly, she was readmitted the day after Christmas and over the next three months was hospitalized a total of 21 days before her diet, arginine dose and electrolytes were regulated. In the following years, Danielle was hospitalized several times due to high blood ammonia. When she was about 9 years old, she developed a seizure disorder. The seizures range from partial complex to grand mal. Her present seizure medications are tegretol-xr and zonegran. In the past year, she has had numerous seizures. In 1998 and 2003, it was assumed that a virus had attacked her liver and she did not respond to the emergency protocol. Dialysis was needed in 1998. We came very close to losing her during these two high ammonia episodes and we are grateful to God that she survived. Danielle is delayed in all areas and experiences tremors in her hands. Recently drooling has become a major issue. Danielle started an early intervention program when she was 11 months old and has attended several special education programs since then. She presently attends a special education school where she will remain until she is 21 years old. The academics are mostly functional, but Danielle is a very determined young lady and is quite willing to try new tasks. Her recreational activities include dance lessons, swimming lessons, baseball and basketball. She enjoys music, watching TV and the computer. She is extremely happy and adds a lot of joy to our lives and to the people that she meets. We pray that God continues to bless us with her presence and that Danielle continues to strive towards her true potential |
| Danielle Jean was born at a local hospital on 12/11/87 by natural childbirth. There was one strange aspect of the delivery that still stands out in my mind. At one point during my labor the doctor was pounding on my abdomen and telling the baby to wake up. A fetal monitor was inserted. But soon my fears were relieved, and Danielle arrived. I was told that I had a healthy baby girl. Danielle�s sisters; Elena (ASA), then 7 years old and Anne Marie, then 3 years old, were so excited. The plan was to have Danielle tested for ASA at 3 months of age, which was when Anne Marie had been evaluated. |
| Danielle's Information as of May 2005 Contact person: Annette DeFilippis E-mail: [email protected] Birthday: December 11, 1987 Home: Floral Park, NY Age at diagnosis: 1 week Other diagnoses: Seizures Siblings: AnnMarie (unaffected) Developmental Status: Delayed Elena (ASA) |
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| Elena (L) Danielle (R) |
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