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Lysostories™ a Publication from Your Healthcare Advocates This newsletter is sponsored by Genzyme Corporation. Genzyme by sponsored is newsletter This September 2007 LysoStories™ A Publication from your Healthcare Advocates What’s New Welcome Take a look at the updated MPSI website at We hope that you enjoy reading this issue of LysoStories, a newsletter designed by Health Care Advocates for patients www.mpsIdisease.com and families with lysosomal storage disease (LSDs). If you have a suggestion for an article or would like to tell your story, please contact a member of the Publications Committee. Don’t miss the National Gaucher Foundation • Karen Grinzaid, MS, CGC • Erin O’Rourke, MS, CGC • Lisa Sniderman King, M.Sc, CGC Conference in Atlanta on October 14 and 15, Emory University School of Medicine Genzyme Liaison University of Washington 2007. This year’s conference, “Science Evolv- (404) 778-8516 (412) 734-1534 (206) 987-1406 ing - Where It’s Taking Us - A Look into the Future [email protected] [email protected] [email protected] for Gaucher Disease” will be held at the Westin Peachtree Plaza, 210 Peachtree Street, Atlanta, • Nadene Henderson, MS, GCG • Nita Patel, RNC, BSN Georgia. To register, visit the NGF website University of Pittsburgh Saint Peter’s University Hospital at www.gaucherdisease.org or email: (800) 334-7980 (732) 745-6681 [email protected]. [email protected] [email protected] Center News Having invisible disabilities also has affected how A Publication from your Healthcare Advocates Healthcare your from Publication A Patient Story I relate to others. I know that I should not make Lysosomal Storage Disease Center Stories Lyso judgments based only on what I see. I recently met TM Emory University Invisible Disabilities the mother of a friend and she did not get off the couch to introduce herself. I might have thought she Please join us for our upcoming Annual MPS By Nathaniel Goldman was being rude, but instead, I wondered if she had Family Meeting on Sunday, September 23rd at A 19 year old with Fabry disease an invisible disability or other hidden reason that Maggiano’s Little Italy, 4400 Ashford Dunwoody prevented her from getting up. Additionally, I have Rd., Atlanta, GA 30346, phone 770-804-3313. I wish I had a cast on my arm, so people would see it (Note that this is the Perimeter Maggiano’s, become very sensitive to people’s feelings. I understand (continued from page 3) and ask, “How can I help?” My disabilities, however, that everyone’s pain is not visible, and that words and not the Buckhead location). The meeting will are invisible. I have two challenges: a learning 1. Parent Participation in Meetings: 3. After the Meeting: provide all local MPS patients and families an actions can cause wounds that are not seen. To establish and maintain an effective team atmosphere be positive. • Add documents from the conference to your files. disability, which makes it difficult to read and write; opportunity to visit with each other and share and an enzyme deficiency, called Fabry, which makes • Send a follow-up letter of your recollections about what happened information. Please RSVP to Heather Clark at I have also changed my philosophy about major • Don’t allow your emotions to interfere; be factual, prepared, and and a brief thank you letter. Include your understanding of what it almost impossible to walk long distances, play concepts in life. I know from personal experience that the Emory LSDC at 404-778-8536 or email sports, or be out on a hot day. These invisible disabili- ask for clarification. the school agreed to, and issues that went unresolved. [email protected]. something does not have to be seen to exist. Invisible • Know the philosophy of your principal. Does he/she truly believe • Keep written records, keep written records, oh, did I say keep ties have taught me to deal with many situations. I does not mean nonexistent. This has helped me accept all children can learn? written records. have learned about myself, about others, and about the existence of concepts that I believe are real, even • Educate the team on LSDs. This will give them more information • Take care of yourself or you will become exhausted and burn out. life in general. though I cannot offer visible proof, like prejudice, to plan your child’s educational program. Pace yourself. love, hate, faith, or God. • Learn about tests and measurements. These disabilities have taught me to take care of myself • Dress professionally. In closing I would like to extend encouragement to those families who have in several specific ways. First, I have to acknowledge My invisible disabilities have helped me look at life • Gather all your child’s medical and educational records that are children with disabilities. Having a child with special health care needs my disabilities. When friends go on a hike, I must use through more understanding eyes. I know who I pertinent to the meeting. Review your child’s records. What are means becoming his or her voice. Do not give up; there are many knowl- good judgment and stay behind, even if I want to go. am and what I must do for myself. I am careful not their strengths and weaknesses, what do you want them to achieve edgeable professional advocates that will assist you through this process and Admitting, especially to myself, that I cannot do what to prejudge others. I accept certain universal beliefs this year, what are your long-term goals for your child, how does ultimately improve the quality of life for your child. others do has been a hard lesson to learn. Second, I about life that can not be proven. Having disabilities your child’s disability affect his or her ability to learn? must be my own advocate. As Rabbi Hillel said, “If I that are not readily observed by others is not just a • Write down questions and concerns. The LSDC group at Emory (left to right): Karen Grinzaid, am not for myself, who will be for me?” For example, part of who I am, but has actually changed who I have Eleanor Botha, Dawn Laney, Dr. Paul Fernhoff, Heather I need to make arrangements for extended time to become. 2. During the Meeting: Clark, Erin Rooney and infusion nurse Trudi Holbrook. complete tests and assignments, and to plan ahead to • Sit next to the administrator or the person who will ultimately obtain recorded tapes of assigned text books. Third, make the decisions. I need to communicate the effects of my disabili- • Ask questions, define and describe issues, problems, and offer ties to others. This is especially difficult because my solutions. limitations are not apparent to other people. When • Stay on task. a coach, or teacher, or employer tells me to do some • Learn to be a negotiator. Prioritize important issues. physical activity that I cannot do, I have to explain that • Take notes. If it is not written down, it never happened! I am unable to do it. If he or she says, “no excuses,” I • If at all possible both parents should attend the meeting and have to continue to explain and not be intimidated. present a unified front. If not take a friend or advocate so you don’t feel vulnerable and can process the meeting together afterwards. • Do not sign the IEP at the meeting if unsure. Take it home and read it. Identifying a Dragon help explain the lack of sweating, fatigue, depression, and anxiety. Two excellent your child. This is the key that will unlock the door which is verified by a physician. Instructional services the student’s achievement, although there may be physicians at Emory Children’s Center, Dr. Lillian Meacham (endocrinology) for your child. I encourage all parents to obtain a are available to all qualified students during conva- changes in teaching materials used, testing materials, By Toby Director and Dr. Bess Schoen (gastroenterology), stood at an important crossroad, and copy of their states rules and regulation through the lescence or treatment time in a medical institution or even in the instructional environment. Once these guided us in the right direction. They each took that significant step beyond Department of Education. or therapeutic treatment center, or at the student’s changes are made, the standards of achievement “Why are you so invested in finding something wrong with your sons?” came the treating the symptoms in their own specialty and insisted that we look further for place of residence. The length of instruction for remain the same. For example, a child may be unable question from a close relative. “Something is wrong with them,” I answered, “I’m the underlying cause. Individual with Disabilities students in a full-day program is six hours per week; to read an assigned textbook; therefore the accom- just invested in trying to find out what it is.” That determination finally paid off. Education Act (IDEA) however, parents should know this time is not fixed modation would permit the student to listen to a After a long search, with several false detours, we finally did obtain the correct The search finally led us to the Mayo Clinic. An admitting doctor looked at The IDEA has six principles. The first four principles and can be increased through a team decision. taped version. Once the student has heard the story, diagnosis. We could, then, begin to knowledgeably address the problem. the angiokeratomas and said, “You need to see a dermatologist.” Within several reflect the actual processes that schools follow in order however, he or she must take part in all required hours, the dermatologist examined my sons and said, “You need to see the pedi- to provide each student with a disability, the benefits Some children with LSDs also receive enzyme testing and assigned work.
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