ALESSANDRO NEEDS HELP
TO ALL DOCTORS AND RESEARCHERS WILLING TO HELP A SERIOUSLY ILL BOY WHO HAS BEEN WAITING 22 YEARS FOR A REAL DIAGNOSIS
Alessandro is a 22 years-old young man who suffers through two-three seizures a week and depends completely upon round the clock assistance from family and friends. In 1994 he fell into a come and his condition worsened to the point that even his doctors were losing hope to save him. Luckily he pulled through and after two months he was able to return home. His general conditions, however, are not improving.
It was not always like this. At the beginning of primary school (six years old), Alessandro was a lively and seemingly healthy child, he loved to ride horses, to cycle and to play with other children. Then his ordeal started. To this day we have not found a treatment that would improve or stabilize Alessandro’s deteriorating health.
CLINICAL SUMMARY Alessandro Di Domenico was born in Rome, Italy, 16 April 1977. His first six years passed almost normally, even though in his very early days he had had occasional episodes of tremors and of minor seizures in association with episodes of high fever and of (supposedly) sensitivity to maternal milk (soon replaced by artificial milk). The pediatricians we consulted after these initial episodes reassured us, but decided to prescribe, to be on the safe side, an anti-seizure treatment based on phenobarbital. This treatment was stopped when Alessandro was four, after he had not had any more seizures. At the beginning of primary school (six years old), Alessandro was a lively and seemingly healthy child, he loved to horse ride, to cycle and to play with other children. His speech was slightly delayed, but the specialists we consulted attributed these problems to psychological factors and reassured us that they would disappeared in time. In December 1983, while apparently making progress, Alessandro loss consciousness during a Christmas party. He was immediately taken to the hospital and admitted. From that day on, our son started having very serious TONIC-CLONIC SEIZURES (up to 10 a day). His doctors gave him increasing doses of anti-seizure medications that however did not yield the expected results. As of today the only diagnosis for Alessandro is "DRUG RESISTANT SEIZURE DISORDER (EPILEPSY)", although seizures are not the only clinical problems he has. From 1983, his ability to communicate and move have progressively deteriorated to the point that Alessandro has now completely lost the ability to speak and to be autonomous. In addition, his physical condition has seriously deteriorated. Alessandro suffers from a serious form of ASTHENIA (weakness) and very frequently has MIGRAINE HEADACHES. He also manifests various psychomotor signs and symptoms, including APRAXIA, verbal and motor STEREOTYPES. In addition, he is losing his teeth, and practically all his vital functions have been altered by this nameless disease. Our peregrination to neurologists and gastroenterologists gave few results. Some thought that he may have a metabolic disorder, though a diagnosis was never established and the use of mineral and vitamin supplements, as well as following several types of diets did not improve the overall clinical picture. In 1994 his condition was so bad that he fell into a coma. The doctors of Rome University Clinic told us that there were only very few chances of saving him. Luckily, the treatment given (based on FREAMINE after some analyses showed a slight shortage of SARCOSINE) managed to bring him back to a more stable physical condition and after two months he was dismissed and returned home. Today Alessandro is in a very poor condition, has two-three epileptic seizures a week, and is completely dependent upon others needing assistance around the clock. For the last two years Alessandro communicates by computer thanks to the FACILITATED COMMUNICATION technique. His language is very simple and child-like, memory and attention are poor, yet he manages to express thoughts, emotions and feelings.
We realize that going back to normality may not be possible, however we won’t give up looking for some cure that could diminish his daily suffering. We thank you, also on behalf of Alessandro, for the attention given to this case.