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Living beyond a rare disease

Welcome to my web page-This is my home for writing on my life with MPS, weekly ERT infusions and as an advocate for Pain Awareness with the American Pain Foundation Action Network. I have been diagnosed with MPS I-Scheie S yndrome since February 2005. Support received from family, friends and medical providers has been a blessing. Without this I know some days may be a struggle to get up and move forward towards accomplishing my goals. I started Enzyme Replacement Treatments May 20th, 2005 and on 5/20/10 I will have reached 5 years having made it through many trials and errors for sure in many circumstances related to ERT. ERT is not always an easy road for me as there are alot of struggles but I am grateful for being able to receive these infusions and for what it has done to help my body. . No matter what my struggles seem, I always will know another individual f acing the same thing or similar as myself and there is always one person who has a much rougher road than I to travel. I only hope I remain strong enough to help and support others as they venture through the MPS world as well and that together we can ALL make a difference. I hope that in the struggles ahead I can always stay strong, positive and kind. I hope that I can take all of the knowledge I have gained and will gain over the past 5 (and much longer) yrs. as I continue to advocate for myself by learning to speak up and express myself to my Drs and to be honest about my feelings when I am upset about a decision about anything with my care or ERT treatment. I continue to hope I will always be a great support to my fellow friends in the fight for a cure for all MPS/ML disorders and in the work I am able to do around Pain to raise awareness both locally and on a National level. I have been given many opportunities and feel very blessed for all that the MPS Society, my Family and as well as APF have done for me. MPS I (historically known as Hurler, Hurler-Scheie, and Scheie Syndromes) is an inherited lysosomal storage disorder caused by the deficiency of an enzyme called alpha-L-iduronidase. This enzyme is required for the breakdown of certain substances in the body known as glycosaminoglycans (commonly referred to as GAGs). Glycosaminoglycans are complex substances produced by the body that are found in all types of connective tissue. Connective tissue provides structural support to organs and tissues and makes up the cartilage of growing bones, joints, and heart valves. Without sufficient quantities of this enzyme, GAGs accumulate in virtually all organs of the body, causing progressive disease. Aldurazyme a synthetic enzyme replacement works by reducing GAG (glycosaminoglycan) levels, Aldurazyme may help slow the underlying disease process of MPS I, and may thereby help reduce damage to several of the body�s organs and improve some physical capabilities. What are Lysosomal Storage Disorders? Lysosomal storage disorders (LSDs) are inherited disorders caused by a deficiency of specific enzymes that are normally required for the breakdown of certain complex carbohydrates known as glycosaminoglycans (GAGs). If a specific lysosomal enzyme is not present in sufficient quantities, the normal breakdown of GAGs is incomplete or blocked. The cell is then unable to excrete the carbohydrate residues and they accumulate in the lysosomes of the cell. This accumulation disrupts the cell's normal functioning and gives rise to the clinical manifestations of LSDs. MPS I is inherited in an autosomal recessive manner (both parents must be carriers of the abnormal gene). The highly variable clinical presentation and the rareness of each individual disorder frequently contribute to missed or delayed diagnosis. Diagnosis of an lysosomal disease is usually the result of a physician recognizing a pattern of the various presenting symptoms; a definitive diagnosis may take many years during which other possible conditions are assessed and excluded. Specialized laboratories offer the specific enzyme assays or mutation analyses, which confirm or rule out the diagnosis of a Lysosomal disease. The National MPS Society and Genzyme provide support for people living with MPS I. These organizations are support networks for those affected by MPS I, providing disease and treatment information, public awareness, and a connection with other people facing similar challenges. The Natonal MPS Society is a non-profit organization that raises awareness for all MPS/ML disorders, and funds on-going research and trials by many Specialists in the Lysosomal Storage disease and mucopolysaccharide family. The MPS Society offers Yearly Conferences around the U.S and recently held one in Vancouver, B.C. (08) and one at Disney (09) as well as funds smaller regional family get togethers. www.mpssociety.org. Genzyme provides treatment support and Case Management help with Insurance issues related to Once Weekly Aldurazyme infusions and holds Patient meetings to provide a chance for patients, doctors and staff to learn together. Genzyme offers free help through this program and a Case Manager to help with any questions or concerns and to coordinate ERT set-up and maintenance. Through Children's Hospital, Froedtert and several specialists in private practice I am able to work with a group of specialists who although not MPS 'experts' try to be supportive and are knowledgeable on other Areas which MPS affects. . Aldurazyme� (laronidase) is an enzyme replacement therapy for the treatment of mucopolysaccharidosis I (MPS I), an inherited, often life-threatening disease.BR>In April 2003, Aldurazyme received marketing approval from the U.S. Food and Drug Administration making it the first specific therapy for the treatment of this progressive and debilitating disease. Shortly thereafter, in June 2003, the European Commission granted marketing authorization for Aldurazyme in the European Union. Aldurazyme has been designated orphan drug status in both the United States and European Union, which grants the therapy market exclusivity for seven and 10 years, respectively. Aldurazyme has since been approved in numerous other countries around the world. Genzyme *Aldurazyme (laronidase) is indicated for patients with Hurler and Hurler-Scheie forms of MPS I and for patients with the Scheie form who have moderate to severe symptoms. The risks and benefits of treating mildly affected patients with the Scheie form have not been established. Aldurazyme has been shown to improve pulmonary function and walking capacity. Aldurazyme has not been evaluated for effects on central nervous system manifestations of the disorder. Genzyme Therapeutics / BioMarin Pharmaceutical Genzyme therapuetics and BioMarin Pharm. have worked to fund a clinical study at the Harbor-UCLA research center looking at the use of Intrathecal enzyme replacement with Aldurazyme. This study assesses the use of IT Aldurazyme injected in the spinal canal as a possible treatment for spinal compression, Hydrocehaplus, and cognitive decline. I had previously participated in this study and received these IT injections once monhtly over a 6 month period under the care of a research team at Harbor. Ultimately in my case it was decided to go forth with spinal decomrpession and laminoplasty but the study continues after a set back this past year and looks for MPS I individuals to participate. I have a team of Specialists at Children's Hosp. of WI and Froedert Hosp. located in Milwaukee, WI as well as several drs outside of the system in private practice and as well as a group of several specialists in MN at the U. I basically have several 'primary' drs in that they all contribute from their given specialty and help to contribute vastly to my overall care and coordination. The drs I see include Genetics, Adult Congenital Cardiology, NeuroSurgery, Pulmonary, Pain Mngmt., Eye, Hearing, Internist, Pain Psychologist, Ortho-Spine dr and PT. My main team has become somewhat divided b/c of specialist switches and one dr taking on alot to help create a more optimal team. This now includes My Primary Physician,(Internist and Pain dr) my local Neurologist and on a limited basis basically because of infusions my Geneticist, my Genetics Counselor remains involved. ***Enzyme Replacement Therapy is used in Hurler Scheie and Scheie indiv. and is given via IV infusion Once weekly for Life. American Pain Foundation-Action Network WI www.painfoundation.org Article on Pain Management and Co-Leader role Juneau Empire http://juneauempire.com/stories/082309/nei_485064128.shtml Pain Management and MPS Article http://www.associatedcontent.com/article/1696922/mucopolysaccharidoses_mps_pain_care_pg2.html?cat=5 The incidence of MPS I-S is estimated at 1 in 1.3 million births. see: MPSIDisease.com

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