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educating every doctor who saw my son about Gaucher Disease while living with the hope that one day he would be treated by a specialist. It included maintaining a positive attitude, at the end of the day, when the endless calls and messages to the health insurers for funding Cerezyme remained unanswered. It meant looking beyond all the impossibilities to the unseen day when Mario would have infusions. It necessitated keeping a happy face around my husband to keep him strong when my world inside was caving. It meant educating Mario’s younger brother about Gaucher and getting him involved with the management of the disease to eliminate his jealousy about the additional attention “Mario’s health was now my top priority. Amidst the noise and confusion about the diagnosis in the combined families, I had to stay focused on a future for him and for the immediate family. Being focused was a huge challenge. It involved educating every doctor who saw my son about Gaucher Disease while living with the hope that one day he would be treated by a specialist....” given to Mario. Finding creative ways to keep my eldest son focused on his studies regardless of the impact of a Gaucher diagnosis on the family was also important. Keeping sight of a future, above all, meant finding a source of strength to energize me when I could no longer hold back the tears. This source was prayer. On my knees, I found strength and opportunities to explore in my search for a breakthrough for Mario. My first opportunity was an invitation to evaluate my son from a Professor at Mount Sinai Hospital in New York. He had been a prolific writer on genetic diseases and he confirmed the diagnosis and appealed to the company who made Cerezyme to donate the medication on a compassionate basis. There was jubilation in the church, school and combined families. Mario was getting better fast and my reservoir of tears was long dried when I observed new and frightening symptoms. This could not be true! Perhaps I had been reading too much about Gaucher. Perhaps these new symptoms were just imaginary! Were the symptoms evidence of neurological involvement? With the help of Genzyme, a specialist in Florida offered additional evaluations and got me connected to support groups. He also referred Mario to the Gaucher Clinic at the National Institutes of Health for further investigations. Did I say God came through for me? Yes, he did! Type 3 Gaucher was confirmed and my will to fight Gaucher Disease with every cell in my body was only strengthened. The presence of so many families caring for children with Gaucher Disease and the multiple specialists who followed up my son for two years gave him a better quality of life and had a therapeutic effect on me. The endless chatter of the support groups was ammunition against Gaucher. The constant presence of the Lead Investigator and his team to whom I could direct all my questions even when some sounded nonsensical helped me to face the “final frontier.” Mario had gone through so much but had never complained. He learned to throw a tan-trum to obtain and maintain my undivided attention and I was weak at discipline as I felt that having Gaucher was enough punishment. But he was becoming spoiled rotten and I had to read the riot act. For hello, he would give you a big smile and a big hug and you could not escape these even if you were a stranger. He had an obsession for sports and did not obey doctors and teachers’ 22 Advances in Gaucher Disease instructions to stay away from playing football and other hard sports. I was called in to school regularly after many sports days to discuss Mario’s lack of compliance. As a child, Mario had no taste for sweets, candies, cakes, ice-cream and the regular sweet tooth items which children love. He was so much happier with a well-balanced cooked meal. Like most children, he sometimes got into trouble especially for watching prohibited TV programs and fighting his sibling for the Remote Control. He usually punished his younger brother for reporting on him by pulling him to the floor and sitting on his back. As Mario was much heavier his brother had to scream for help. Mario usually got upset if someone his age tried to help him to get his pants on or tie his shoelace even though he put the pants on from bottom up. He was extraordinary gentle to children who were younger than him and he loved to sing. If you asked Mario to tell you about himself, he would say with a big smile “Mommy says I am the most handsome boy in the whole wide world.” While in treatment at the NIH he grew up quickly and was a happy teenager. One night in 2009 seizures made an appearance while he was sleeping. Mario was subsequently afraid of seizures, nights and poorly lit spaces. The medications also failed and he tried to avoid sleeping. I spent several nights staying awake with him but very soften sleep overpowered us and I woke by the sound of his shaking body. The attacks began to come at any time, day or night. They came at school, church, and home and in the car. As a family, we could no longer get up and go and Mario was no longer interested in the outside world. One early morning at 2:30 a.m. the seizures started. We could always expect an attack around that time but that morning there were multiple attacks at short intervals. The entire family was out of bed preparing him for hospital. My husband placed him in the wheelchair as over time his legs had become paralyzed. That day was his brother‘s turn to feed him so he held the cup of warm milk gently to Mario’s lips as he tried hard to fight back tears. Mario tried to hold the cup to help but as usual his arms jerked violently. Before long he was seated in the back of the car with his caregiver beside him to ensure that his drooling lips were kept dried. That day like many days before the entire family took a vacation from work and school. At the hospital, no one needed to ask his name or why he was there. They pulled his file and inquired about how many seizures he had this morning. As usual, the medical team evaluated him and decided whether for that visit he would go to the regular ward or to the Intensive Care Unit. “Mario,’’ the nurse was saying, ‘’your 15th birthday will be in another week. I have attended your last three birthdays at your hospital bedside and I will be dressing myself up again for your next party.” Mario gave her a big smile. We noticed that since the previous series of attacks he spoke very little. We did not know whether he had lost the capacity to speak.


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