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Advances in Gaucher Disease 21 A Journey with Gaucher Disease r Forbes sat at his desk reviewing the results of the last clinical examination. He had been turning the pages of the file for the last five minutes but it felt as if a day had passed since he opened that file. My husband was pacing the floor again and the familiar iron arm of anxiety was tightening its grip on me. Mario’s voice rang out from the other side of the room. The pediatric nurse had just cleaned up his last nosebleed and was observing the fresh bruises he suffered from falling frequently. He had found another opportunity to sing his newly learned song and this time the entire pediatric clinic was being entertained: I am a Promise, I am a Possibility, I am a promise with a capital “P”: I am a great big bundle of Potentiality! And I am learning to hear God’s voice, I am trying to make the right choice; I am a promise to be anything God wants me to be. He had become a fixture in this pediatric clinic for the past 18 months and the greatly anticipated meetings with Dr Forbes to discuss the “last series of tests” were unending. “Okay”, Dr Forbes was saying, “please close the door and let us discuss the diagnosis”. “The diagnosis,” my husband and I shouted together. “Yes,” said Dr Forbes,” the results of the liver and lymph node biopsies are here and we finally have a diagnosis. It is Gaucher Disease, spelt G-a-u-c-h-e-r but pronounced Goshay”. 1 An hour later we emerged from the meeting with a new reality. The unknown monster which had been ravishing our son’s body had been identified but our newest challenge was to tame it. At first I rejected the diagnosis. Then I was angry with my husband for carrying a recessive gene for Gaucher and with myself for marrying him. I was angry with God too who allowed this to happen and I plunged into hopelessness and despair, at least temporarily. I remember the moment I began to conquer this disease. While introducing Mario to his team, the Chief Hematologist wrote his diagnosis on a sheet of paper which was passed on to each member of the team. The diagnosis was treated as a guarded secret and I left the clinic with question signs swirling in my head but too confused or timid to raise questions. This was 1998 when a computer was a rare luxury in Jamaica but I got access to one and did long hours of reading on Gaucher Disease. I came across a word in the literature called consanguinity and looked up the meaning. Immediately I made the connection between the word and what had happened in the Hematology Clinic. My husband and I came from rural parishes, Trelawny and Clarendon respectively. We met and got married in Kingston, the capital city of Jamaica where we had been living and raising a family. Curiosity about consanguinity landed us on our parents’ doorsteps in search of answers. They traced their genealogy to the fourth generation and found the surname, Bernard, common to both our mothers’ side of the families. We found that my husband’s mother’s maiden name and my maternal grandmother’s maiden name was Bernard but no blood relationship could be established between them. We also discovered that many of our ancestors on both sides of the family originated from another rural parish called St. Ann. The discussions about consanguinity reached fever pitch in the combined families. There were frequent heated discussions and everyone had a theory either for or against it. To date some relatives still believe that the Gaucher diagnosis is a hoax hatched by frustrated doctors who could not find a diagnosis. However, as Mario’s liver and spleen became larger and his general health began to deteriorate, interest in exploring consanguinity waned in the light of more pressing issues. 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 Moreena Howlett-Mason Sales Manager, West Indies & Caribbean Sanofi Genzyme Central America & Caribbean D Mario Mason


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