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The Connection Corner Guide to MHE / MO / HME PDF File Link Table of Contents The MHE Research Foundation Dedication page 2 Pure White Wings page 3 What is MHE / MO / HME? pages 4-5 MHE / MO / HME Standards of Care Guide pages 6-26 Multiple Exostoses / Multiple Osteochondroma of the Lower Limb Guide pages 27-29 Fixator care guide pages 30-36 Multiple Exostoses / Multiple Osteochondroma of the Forearm Guide pages 37-38 When Your Child Needs Anesthesia pages 39-43 Physical Therapy for Patients with Multiple Hereditary Exostoses Guide pages 44-49 What is Chondrosarcoma ? Guide pages 50-63 2002 the World Health Organization (WHO) redefined the definition of Multiple Hereditary Exostoses (MHE) to Multiple Osteochondromas (MO) pages 64-65 Genetics of Multiple Hereditary Exostoses, “A Simplified Explanation” Guide pages 66-70 Genetics of Hereditary Multiple Exostoses Guide pages 71-77 Genetic Testing and Reproduction pages 78-79 A Guide to learning about your child’s special needs and how you as a parent can help with your child’s Education pages 80-87 Preparing for Your Next Medical Appointment pages 88-90 MHE / MO / HME CLINICAL INFORMATION FORM pages 91-92 Management of Chronic Pain pages 93-98 Pain Tracker pages 99 Keeping a Pain Diary pages 100 Additional Publications pages 101 Hereditary Multiple Exostoses: A Current Understanding of Clinical and Genetic Advances pages 102-111 Hereditary Multiple Exostoses: One Center’s Experience and Review of Etiology pages 112-122 Review Multiple Osteochondromas pages 123-129 Professional suggested reading list (MHE Scientific & Medical Advisory Board) Pages 130-131 Additional Resources page 132 The MHE Research Foundation listing of Board of Directors and Scientific & Medical Advisory Board listing page 133 1 Dedication The Connection Corner Guide book is dedicated to all people affected by MHE / MO / HME around the world. No family should need to face this disease and all the challenges that come along with it alone. No Physician should need to sit face to face with a family and not have the opportunity to provide a family the supportive information they require. The MHE Research Foundation would like to thank all the professionals who contributed their time, effort and energy that made it possible for this guide to be written. Sincerely The Board of Directors of the MHE Research Foundation The MHE Research Foundation is a nonprofit 501(c)(3) organization for the support of researchers, families and physicians dealing with (MHE) Multiple Hereditary Exostoses (MO) Multiple Osteochondroma a rare genetic bone disease. The MHE Research Foundation five point mission is to REACH, Advance & support the following. RESEARCH, to help researchers one day find a treatment / cure for MHE. Our foundation works hand in hand with researchers from around the world on this mission. EDUCATION, to provide clinical information, guides to help benefit both families and physicians. ADVOCACY, bring awareness about this disease throughout the world. CLINICAL, to help provide resources to families enabling them to find the medical care they need. HOPE, the research being conducted on MHE & the informational resources will bring a better quality of life to the families affected by this disease. 2 Pure White Wings All children are born as pure as small white doves with spirits eager to soar. With nurture and care, over time they spread their wings as they grow. With the warm summer breeze, parents take great joy in watching our kids learn to fly. Flying around the clear blue sky with endless amounts of energy. Darting gracefully between cotton cloud dreams as these little doves fly after one another while playing and chasing their dreams. You see our pure white doves were born with the same eager spirit, but also with BROKEN WINGS. Wings that are lame, bumpy and crooked, this hampers their ability to fly. Many times they simply watch through a window as others fly to follow their dreams. They can only imagine the feeling of boundless energies of freedom. Imagining what it would be like to dart at will between cotton cloud dreams, during the warm summer breeze. While their wings maybe broken, their SPIRITS SOAR, giving these kids the unmatched strength, courage and determination to overcome and wisdom far beyond their years. It is their SPIRIT! Gracing them to find other adventures in life and spotting joy that others over look or take for granted. Their energies are saved for times when it's needed for them to be able to overcome the challenges they face day in and day out. Their strength is used to endure the many surgeries and pain they face, trying to repair broken wings. Hoping that this surgery will be their last. The WINGS OF HOPE lead the way as we REACH for the CURE! In order to fix our children’s broken wings once and for all. To put an end to a life time of sitting on the side lines, watching others through the window. So they may also one day truly feel all the scenes of freedom others enjoy. WHO ARE THESE WINGS OF HOPE? YOU ASK !! THEY ARE EVERYONE OF US!!! For you see, we are the care takes of the future, so others may one day be able to fly amongst clear warm blue skies of cotton cloud dreams. Just the way life should be. The MHE / MO / HME Research and Education being conducted today around the world, will open the WINDOW in the future and allow our children not only to FLY LIKE THE PURE WHITE DOVES THEY ARE, BUT SOAR LIKE EAGLES!!!! 3 What is MHE / MO / HME ? Multiple Hereditary Exostoses (MHE) Often referred to as Hereditary Multiple Exostoses (HME) Multiple Osteochondroma is the preferred term used by the World Health Organization "WHO" Authored by the MHE Research Foundation MHE / MO / HME is a genetic bone disorder in which benign cartilage-capped bone tumors grow outward from the metaphyses of long bones, growth plates or from the surface of flat bones throughout the body. The severity of this disease varies widely. Some patients may have as few as two tumors, but most patients develop many more and the numbers of tumors can run into the hundreds. These cartilage-capped bone tumors are called Exostoses / Osteochondroma and may be sessile or pedunculated and vary widely in size and shape. Pedunculated Exostoses / Osteochondroma is when a stalk is present, the structure is called pedunculated. These have a Broccoli like appearance with stalk and growth towards the end of the stalk. Sessile Exostoses / Osteochondroma have a broad-base attachment to the outer bone, called the "cortex". These have a lumpy / bumpy appearance (When no stalk is present, these are called sessile) These Exostoses / Osteochondromas can cause numerous problems, including: compression of peripheral nerves or blood vessels; irritation of tendons and muscles resulting in pain and loss of motion; skeletal deformity; short stature; limb length discrepancy; chronic pain and fatigue; mobility issues; early onset arthritis; and an increased risk of developing malignant tumor transformation (chondro-sarcoma) reported risk of 2%-5% over life time. It is not uncommon for MHE / MO / HME patients to undergo numerous surgical procedures throughout their lives to remove painful or deforming Exostoses / Osteochondromas and or to correct limb length discrepancies and improve range of motion. Surgery, physical therapy and pain management are currently the only options available to MHE / MO / HME patients, but their success varies from patient to patient and many struggle with chronic pain, fatigue and mobility problems throughout their lives. 4 MHE / MO / HME is a genetic autosomal dominant hereditary disorder. This means that a patient with MHE / MO / MHE has a 50% chance of transmitting this disorder to his / her children. Approximately 10% -20% of individuals with MHE / MO / HME have the condition as a result of a spontaneous mutation are thus the first person in their family to be affected. There are two known genes found to cause MHE / MO / HME they are EXT1 located on chromosome 8q23-q24 and EXT2 located on chromosome 11p11-p12. Approximately 60 to 70 %are located EXT1 gene and 20 to 30% are located EXT2 mutation. In 10 to 20% of the patients, no mutation is found. 5 MHE / MO / HME Standards of Care Guide There is an accompanying video presentation on the MHE Research Foundation website Authored by Harish Hosalkar, MD., MBMS,FCPS,DNB Pediatric Orthopedic Surgeon, Clinical Instructor, University of Pennsylvania School of Medicine, Philadelphia, PA John Dormans, MD. The Children's Hospital of Philadelphia, PA Diagnostic Tools Important features of orthopedic exam: It is important to follow each step of the exam during every office assessment of MHE Patient should be comfortable with adequate exposure and well-lit surroundings (lest some important physical finding is missed.) It is important to assess how the patient moves about in the room before and during the examination as well as during various maneuvers. Balance, posture and gait pattern should also be checked. General exam findings should look for any lumps and bumps that can be felt on any anatomical sites that can be easily palpated. Chest wall, abdominal and deep pelvic exam should be performed in all cases. Sessile or pedunculated nature of the bumps should be ascertained if possible. General body habitus, including developmental milestones should be noted. It is important to note any obvious spinal asymmetry, deformities, trunk decompensation, and evidence of para-spinal muscle spasm or elevation suggestive of spinal lesions. The patient’s height should be measured and monitored on subsequent visits. Individuals with MHE are frequently of short stature, with most having heights 0.5 to 1.0 SD below the mean. (The lesions tend to enlarge while the physes are open proportionate to the overall growth of the patient, and the growth of the osteochondroma usually ceases at skeletal maturity).
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