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With (Fragile X) Children The National Fragilequarterly X Foundation A Journal for Families and Professionals Inside: columns Readers Respond... 1 From the Executive Director 2 Being Fair Public Policy Update 3 It’s Time to TEAM Up for Our Kids Braden on Behavior 4 Navigating the Road to Inclusion With Support 6 Guardianship for Your Child (Fragile X) Fragile X syndrome (FXs) Children Sleep in Children With Fragile X Syndrome: 8 Pg. 12 A Bio-Psycho-Social Approach Cover Story 12 Married...With (Fragile X) Children Therapy In Action 14 Doggone It, Mantras Are Great for Learning!! research, reports and announcements Focus on Volunteers 10 Four Who (Continue to) Step Up mGluR5: A Primer 16 Employment First! 18 Employment First! NFXF Joins Growing Chorus on Job Rights for People With Disabilities Self-Determination Movement Focus on ‘Fun’draising 22 Gains Traction Spring Fragile X Fundraising Fun Pg. 18 New Board Members 24 Join Us in Celebrating! See page 23 Issue 41 n June 2011 What Is Fragile X? The term “Fragile X” represents a group of genetic The National Fragile X Foundation disorders, referred to as “Fragile X-associated PO Box 37 n Walnut Creek, California 94597 Disorders,” that have a variety of impacts on affected Phone: (925) 938-9300 Email: [email protected] individuals and their families. The disorders include: Toll free: (800) 688-8765 Web: www.FragileX.org n Fragile X syndrome (FXS)—Caused by the Fax: (925) 938-9315 full mutation of the Fragile X gene, FXS is the most common cause of inherited mental impairment. the nFXF staff: Its effects range from learning disabilities to severe Robert Miller Joshua Prasad mental retardation and autism. Symptoms often Executive Director Shipping Clerk include unique physical characteristics, behavioral Liane Abrams, MS, CGC David Salomon disorders, and delays in speech and language Genetic Specialist Meeting & Technology Coordinator development. Phil Campbell Linda Sorensen, MS Administrative & Program Assistant Associate Director n Fragile X-associated tremor/ataxia syndrome Jeffrey Cohen Meghan McMurray (FXTAS)—A condition affecting some male (and Director of Government Affairs & Development Coordinator in rare cases, female) carriers of the premutation Advocacy Jayne Dixon Weber over age 50, causing balance, tremor and memory Sam Jacob Coordinator of Support Services problems. Assistant Shipping Clerk n Fragile X-associated primary ovarian insuffi- Teddy Palmer ciency (FXPOI, or early menopause)—A condition Database Specialist affecting some female carriers of the premutation. services offered: Fragile X can be passed on in a family by Telephone consultation and basic informational packet—free individuals with no apparent sign of the condition. Educational resources (books, videotapes, CD)—fee In some families, multiple generations are affected, Local, national, and international conference sponsorship while in others, it may cause problems in only one Referral to medical, genetic and support services—free Legislative advocacy person. Research grants Since 1984, The National Fragile X Foundation Membership with quarterly journal—fee (NFXF) has been helping individuals with Fragile X, services offered to: their families, and the professionals who work with Individuals, families, professionals, institutions, and students them. As research into Fragile X continues, our involved with or impacted by Fragile X understanding of who it affects and how it affects service referral: Self or professional them will grow. The NFXF is committed to: eligibility: All 1) supporting and funding all efforts that will increase service area: National and international awareness, 2) improving education, 3) advancing dues-paying members: Over 1,100 phone, email and postal contacts: Approximately 10,000 annually research toward improved treatments and an ultimate unique Website Visitors: Over 600,000 annually cure, and 4) keeping the Fragile X community always Founded: 1984 as a public non-profit 501(c)(3) charitable organization well-informed about the progress of these efforts. Federal tax id number: 84-0960471 Funding: Individual contributions, family and corporate foundations, government grants The Fragile X Quarterly is published four times annually by The National Fragile X Foundation. The journal is mission statement distributed to members and others by request. Please The National Fragile X Foundation unites the Fragile X community to: contact the foundation regarding content or distribution. n Enrich lives through educational and emotional support Managing Editor: Andrew Hidas n Promote public and professional awareness n [email protected] Advance research toward improved treatments and a cure for Fragile X. Executive Editor: Robert Miller Contributing Editor: Linda Sorensen Design: Karen Ashton The National Fragile X Foundation readers RESPOND… quarterly We get many thoughtful letters from readers affected by something they read in the Fragile X Quarterly. So it is a pleasure to finally act on our long-held intention to institute a Letters section so those voices can be shared with a larger audience, and the dialogue on all things Fragile X can continue to enrich us all. Please: if you are intrigued, inspired, concerned, confused, overjoyed, or otherwise moved by something in these pages, we urge you not to stuff the feeling away or confine conversation about it to your spouse or friend. Instead, dash off an email to [email protected], or do it the old-fashioned-but-still-viable way of snail-mailing a note to: Editor, Fragile X Quarterly, 1615 Bonanza Street, Suite 202, Walnut Creek, CA 94596. —Andrew Hidas Managing Editor Thank you for your recent article by Carly Heyman in my opinion, under-diagnosed problem out of the closet of (“Living With FXPOI,” March, 2011), which highlighted her shame and taboo and into the light of research, optimism and experience with FXPOI and the effect it has had on her life. acceptance. As a 33-year-old woman with FXPOI, I understand completely My hope is that Ms. Heyman will be able to one day the author’s struggles and appreciate her honesty. conceive via egg donation (as I did), adopt, or find her child It is easy to think of FXPOI as the “least problematic” in another way, because she is right—FX is a part of us, but it effect of FX, because it is something that is not obvious, is not us. We need to work around it to achieve our goals of nor outwardly debilitating, nor easily discussed in everyday parenting and to work with it to live the active, healthy lives conversation. However, its impact is tremendous: not only do we deserve. sufferers usually lose the ability to have a genetic child, as I did, Abby Stillman Grayson but they are riddled with the symptoms of menopause at a very Belle Mead, NJ young age. This goes a long way to degrade one’s quality of life, especially if the FXPOI is not diagnosed or is not properly managed. And that said, once it is diagnosed, it is quite Thank you, Robert Miller, for your column (“Things You difficult to find doctors who are a) familiar with it, b) willing May Already Know”) in the March, 2011 Quarterly (No. 40). to think critically about it, c) sensitive to its unique issues and It made me tearful to hear the encouraging words that I need to challenges, and d) knowledgeable about how to approach listen to the experts but that I know my child best, and I am his its treatment. In today’s world of controversy over hormone expert. Also, that our children are lifelong learners. It can be so replacement therapy, the answers are not always so cut-and- discouraging as a parent when so many don’t believe in your dried, which makes knowledgeable and committed doctors child (especially during this time with IEP annual reviews). even more of an essential resource. Sadly, they are very few Thank you for your work with Fragile X. You are appreciated! and far between. Ginger Stringer As I imagine is the case for most women with FXPOI, Colorado Springs, CO I did not get a diagnosis until I tried to conceive on my own. And even once I got a diagnosis (POF), I did not get an explanation (due to my FX premutation) until I sought out a Last week I received the link for the latest Fragile X doctor who knew something about ovarian failure in general. Quarterly and I must say I was very impressed with Robert I hope that as your organization moves forward with its efforts Miller’s column (“Things You May Already Know,” March, to educate the public and the medical community, to support 2011). It made so much sense and is just so practical and relevant research, and to advocate for those of us impacted by applicable. His insight is something I can re-read in times of FX, this will change and knowledgeable doctors will become confusion. It surely gave me a lot of clarity. Thank you. a dime a dozen. In the meantime, I am heartened by stories Shakini N. Kedia like Ms. Heyman’s, which bring this often-overlooked and, Fragile X Society, Mumbai, India The National Fragile X Foundation Quarterly Issue 41 n June 2011 1 From the eXecutiVe director robert miller Being Fair We all talk about being fair. We accordingly. That’s why we update our strategic plan annually encourage our children, our political and why all major decisions are reviewed by board committees leaders and many others to be fair. before being brought to the full board. We probably all have a pretty good sense of what we mean by Fairness takes on increasing importance through the life “fair” when we say it ourselves, but our perspectives may not cycle of individuals with fragile X syndrome. Parents work hard always be so self-evident to others. So it is important that we be to assure their children’s equal access in the school setting, and clear about our notions of fairness, especially since fairness has as the children mature toward adulthood, it is equally important always been, and is becoming more so, an issue in the world of that fair and equal access and sup- Fragile X.
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