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That night the seizures returned and did not stop. I sat at his bedside and watched him take his last breath at 2 a.m. His body was still at last. Gaucher could never touch him again. I kissed his lifeless body and fainted. I now have the opportunity to work with families who are caring for children with rare diseases. My advice to each parent I meet has always been to arm yourself with information about the disease and put everything into each day as if it will be the last day you will see your child. At the end of the journey you will be satisfied that you have given all to your bundle of joy. Above all, find creative ways for self-preservation. Editor’s note: After Mario’s death in 2010, Ms. Howlett- Mason combatted her grief by completing an MBA in International Business. She was employed by Genzyme-Sanofi in 2013. Moreena is based in Jamaica and works in all the English speaking Caribbean Islands. 1. Mistry PK, Sadan S, Yang R, Yee J, Yang M. Consequences of diagnostic delays in type 1 Gaucher disease: the need for greater awareness among hematologists-oncologists and an opportunity for early diagnosis and intervention. Am J Hematol. 2007; Aug;82(8):697-701. AGD illness whether related or unrelated to Gaucher disease. Rarely, development of another complication of Gaucher disease, such as lymphoma can lead to increasing spleen size despite continued enzyme treatment. Multidisciplinary Care of Gaucher Disease The key Gaucher physician in an institution or practice often becomes the focal point around whom multidisciplinary expertise can develop to manage Involvement of many different organ systems that are involved in Gaucher disease. Many patients with uncomplicated Gaucher disease do not need to see these subspecialists. However, when unusual complications occur, to achieve optimal health care, it is important to have a team of doctors who complement each other’s expertise and are interested in Gaucher disease. This is exemplified when a small number of patients develop myeloma, other types of malignancies, pulmonary hypertension, advanced liver disease, osteoporosis with fractures, Parkinson disease/Lewy body dementia or development of specific complications of neuronopathic Gaucher disease such as severe vertebral abnormalities (so-called Gibbus formation) and intra-abdominal lymphadenopathy. Thus an ideal multidisciplinary team should consist of the primary Gaucher physician, geneticist, genetic counsellor, hematologist/ oncologist, orthopedist, neurologist, gastroenterologist and endocrinologist. It is also crucial that effective communication is established between the team and primary care physicians and any other health care professionals who are responsible for the patient’s general medical care. Most importantly, patients and their advocates should take charge and not hesitate to ask questions to which they receive clear and cogent replies. Articles of Interest 1. Gaucher disease: Progress and ongoing challenges. Mistry PK, Lopez G, Schiffmann R, Barton NW, Weinreb NJ, Sidransky E. Mol Genet Metab. 2017; Jan - Feb;120(1-2):8-21. 2. Glucosylsphingosine is a key biomarker of Gaucher disease. Murugesan V, Chuang WL, Liu J, Lischuk A, Kacena K, Lin H, Pastores GM, Yang R, Keutzer J, Zhang K, Mistry PK. Am J Hematol. 2016; Nov;91(11):1082- 1089. 3. Shiny Nair, Andrew Branagan, Jun Liu, Chandra Sekhar Boddupalli, Pramod K. Mistry, Madhav V. Dhodapkar Clonal Immunoglobulin against Lysolipids in the Origin of Myeloma. N Eng J Med. 2016; 274 (6): 555. 4. Mistry PK, Weinreb NJ, Kaplan P, Cole JA, Gwosdow AR, Hangartner T., Osteopenia in Gaucher disease develops early in life: response to imiglucerase enzyme therapy in children, adolescents and adults. Blood Cells Mol Dis. 2011; 46(1): p. 66-72. 5. Taddei TH, Kacena KA, Yang M, Yang R, Malhotra A, Boxer M, Aleck KA, Rennert G, Pastores GM, Mistry PK., The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients. Am J Hematol. 2009; 84(4): p. 208-14. 6. Type 1 Gaucher disease: significant disease manifestations in “asymptomatic” homozygotes. Balwani M, Fuerstman L, Kornreich R, Edelmann L, Desnick RJ. 7. The history and accomplishments of the ICGG Gaucher registry.Weinreb NJ, Kaplan P.Am J Hematol. 2015; Jul;90 Suppl 1:S2-5. 8. Gaucher disease: a comprehensive review.Rosenbloom BE, Weinreb NJ.Crit Rev Oncog. 2013;18(3):163-75. Review. 9. The Complicated Relationship between Gaucher Disease and Parkinsonism: Insights from a Rare Disease. Aflaki E, Westbroek W, Sidransky E. Neuron. 2017; Feb 22;93(4):737-746. 10. Gaucher disease types 1 and 3: Phenotypic characterization of large populations from the ICGG Gaucher Registry. Grabowski GA, Zimran A, Ida H. Am J Hematol. 2015; Jul;90 Suppl 1:S12-8. AGD A Personalized Approach to Management of Gaucher Disease (continued from page 6)


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