Breakthrough - Osteogenesis Imperfecta Foundation

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Q& A Respiratory Concerns Answers to Members’ Questions Respiratory Concerns for Children & Adults This article is based on information from the fact sheet, OI Issues: Maintaining Health During the Adult Years, and book, Osteogenesis Imperfecta: A Guide for Nurses, both published by the OI Foundation. What is the repiratory system? The respiratory system’s job is to bring oxygen into the body and remove carbon dioxide, the waste product of breathing, from the body. The respiratory system is made up of two parts: the upper respiratory tract includes the nose, ears, sinuses, mouth and the structures found in the throat, and the lower respiratory tract includes the trachea, bronchial tubes and the lungs. The ribs and diaphragm assist the lungs as they expand and contract with each breath. In the lungs, impurities from the air are filtered out and the oxygen is transferred to the blood system. Oxygen is the fuel that all cells and all organs in the human body need to function. Getting enough oxygen is important for good health. What are the common causes of upper respiratory problems? • Viral infections such as colds and flu. • Bacterial infections such as bronchitis and pneumonia. • Allergies. Who should be concerned about respiratory function? Respiratory health is a concern for children and adults with OI who: • Are short in stature. • Have scoliosis, kyphosis or both (kyphoscoliosis). • Have chest or rib cage deformities such as pectus carinatum or pectus excavatum. • Lead a sedentary life style. As a rule, the more severe the OI, the more susceptible the person will be to lung or breathing problems. Why does OI affect respiration? Deformities of the spine and ribs can limit the space available for the lungs to expand. This decreases the amount of air in the lungs, which means that less oxygen is available to the body and that the lungs cannot get rid of all of the carbon dioxide. Pulmonary (lung) complications can occur due to rib fractures, muscle weakness of the chest wall, heart valve disorders, chronic bronchitis and asthma. What problems will this cause? Breathing problems can lead to shortness of breath, tiredness, insomnia, migraine headaches, sleep apnea, and can make the person more susceptible to infections such as pneumonia. Restrictive pulmonary disorder, a reduction of lung capacity, is common in people with severe OI or any one who has decreased chest volume, chronic bronchitis or asthma. Respiratory complications leading to pneumonia or heart failure represent a significant cause of death for people with Type II or Type III OI. What can be done to prevent a serious respiratory problem? There are four things that every person with OI can do to protect themselves from serious respiratory problems. 1. Treat all respiratory infections, even colds and coughs, immediately. 2. Seek prompt treatment for any difficulty breathing. 3. Have your respiratory function tested. Adults with Type III or Type IV OI, or spine curvature, should see a pulmonologist every 1-2 years. 4. Exercise to promote deep breathing. Talk with your doctor about how to do this safely. What else can be done? • Children and adults should have any spine curvature monitored. In some cases surgery may be necessary. • Discuss with your doctor how you can exercise safely to develop muscle strength and lung capacity. • Talk with your doctor about whether you are a candidate for the flu shot or pneumonia vaccine. • Do not smoke, and avoid exposure to second-hand smoke. • Use of supplemental oxygen and use of BiPAP, a positive pressure breathing device, can help manage pulmonary function. • Asthma inhalers during the day are sometimes beneficial. People with chronic asthma may need additional medications. Breakthrough Winter 2004 Page 6
Article How do we estimate the number of people with OI? Available statistics regarding the number of people with OI are estimates, not exact figures. It is estimated that 30,000 to 50,000 people in the United States have OI. This estimate is an “educated guess” based in part on studies done in other countries, where smaller populations and the existence of centralized OI registries make it more feasible for researchers to count the number of people affected. OI Type I is by far the most common form of OI; researchers estimate that 50 to 60 percent of people with OI have this form of the disorder. Scientists who study diseases in populations use “incidence” and “prevalence” to measure how often a disease or disorder occurs. Incidence means the number of new cases of a disease or disorder in the population during a given period. For genetic disorders such as OI, incidence usually refers to the number of babies born each year with the disorder. Prevalence refers to the number of people of all ages who have a disease or disorder at a designated time. When people ask, “How many people in the U.S. have OI?” they are asking about the prevalence of OI, not the incidence. A more precise estimate of OI incidence or prevalence in the U.S. would require a comprehensive population study. Such a study would have to inquire about the number of cases of OI occurring in a large group of people who are representative of the wider population in terms of gender, race, ethnicity, geography, etc. This type of study has not been done in the United States due to health privacy issues and the immense cost. Alternatively, a study could attempt to locate—to actually count—every person in the country who has been diagnosed with OI. This type of study’s utility as a precise counting tool is limited. How does one reach everyone? Researchers could try to locate people with OI by contacting doctors, hospitals, and clinics where people might go for treatment, but health privacy laws would limit the physician’s response. It would also be extremely difficult to reach people with OI who are unaffiliated with any OIrelated organization or treatment facility, including those with very mild OI who remain undiagnosed their entire lifetime. Gathering data on the incidence or prevalence of OI is difficult because of the variable nature of OI. Though more severe cases of OI are usually apparent at (or before) birth, many people with OI are not diagnosed until later in life. When babies are stillborn as a result of the most severe type of OI, it may not be recorded as the official cause of death. Therefore, even if a comprehensive effort was made to determine how many babies are born with OI, many cases of OI would still be missed. Likewise, it is not uncommon for an adult with mild OI to be unaware of having the disorder. Even the most rigorous and far-reaching study might miss a significant number of people with OI. To try to estimate prevalence, based on incidence, a study would have to be MAKE new friends in the OI Community... created that would ensure the measurement of incidence was complete. You would then need to know the life expectancy of those born with the disorder, which varies greatly due to the variability of the disorder. It’s simply not possible to accurately measure the prevalence of OI in the U.S. Therefore we continue to use the 30,000 to 50,000 number, which is based on the most accurate incidence and prevalence figures from smaller countries with socialized medicine and current OI registries. That data is compared to U.S. population figures and the limited hard data we do have available about OI in the U.S. to extrapolate our current estimate. OI is often considered a rare disorder. The National Organization for Rare Disorders defines a rare disorder as one that affects fewer that 200,000 people in the United States. While OI certainly qualifies under their definition, it helps to put the estimated number into perspective by comparing it to recent estimates from other disorders. It is estimated that: · 200,000 to 250,000 people in the U.S. have multiple sclerosis, a progressive neurological disorder (source: National Multiple Sclerosis Society), · 40,000 people in the U.S. have Marfan Syndrome, a connective tissue disorder affecting the heart and other organs (source: National Marfan Foundation), and · Cystic Fibrosis affects approximately 30,000 children and young adults in the U.S. (Source: Cystic Fibrosis Foundation). ...by joining us each Sunday at 8 p.m. EST on www.oif.org for the OI Foundation’s online chats. MEET new friends at the National Conference June 24-26,2004, in Dallas, TX! Page 7 Breakthrough Winter 2004
Page 1 and 2: B reakthrough The Newsletter of the
Page 3 and 4: Dear Friends, President’s Message
Page 5: UPS Delivers Continued from page 1
Page 9 and 10: For more details, go to www.oif.org
Page 11 and 12: 2004 Conference Information Confere
Page 13 and 14: metabolic research Center Continued
Page 15 and 16: 2004 Conference Information Remembe
Page 17 and 18: Honorary & Memorial Donations In Ho
Page 19 and 20: Article Understanding medical resea

Breakthrough - Osteogenesis Imperfecta Foundation

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