What Am I talking about?
In March of 2018, I was diagnosed with Osteogenesis Imperfecta. This is a brittle bone disease. In childhood, I was blessed to have only broken a few bones. In my left wrist I broke several bones when I was a teenager and then when I was a freshman in high school I broke my collar bone in a car accident. As an adult, I hate to say, as I am now middle-aged, I have at least 6 breaks in my right foot and a break in my left tibia of which I didn’t even know was broken until my doctor found a healed fracture on an x-ray. The same happened with 2 of the 6 fractures in my foot. That’s some strong pain tolerance to be able to walk on a broken leg, and 2 broken bones in your foot, the bones in my foot were broken at the same time. I can remember the day that I broke them, now that I know they were broken, because I stepped on my foot, I was just walking, but I remember feeling a very horrible pain that lasted a day or two. There was another time that I was standing by a chair to sit down and I slide my shoe off and when I placed, not even stepped, but just placed my foot on the ground, I broke a bone in my foot. I knew that I had broken that one because by that point I was beginning to recognize what broken bones feel like. It is a different feeling than dislocating a bone. Why I say this is because I dislocation a joint at least once a day if not more, so I already have a high pain tolerance. I’m learning that I no longer need to try and walk off the pain or just try to work it out because now that I know that I have OI, I need to pay more attention to the fact that if I have pain, especially in my feet or hands, I most likely have broken a bone. The type of OI that I have affects your hands/wrists and feet more than anything once you reach middle age. And that’s right where I am. Vanity may play a small part in being sad about being middle-aged but more so just knowing how fast life is going by and know how much of it that I miss because of the rare genetic disorders that I have that causes me to have to live my life in a manner that most people never have to consider.
About my disorders, well, really they are called Syndromes because they involve many different issues whereas a disorder can be more focused on just a few or one issue, at least that’s how I understand it. So, one of the syndromes that I have, and I have lots of them, is called Ehlers Danlos Syndrome which causes you to have many many symptoms and issues, but the main one for me is dislocation of joints. These Syndromes that I have are genetic disorder which means that I was born with them and because as of now Science has not found a cure then I will deal with these for the rest of my life and the two that I’m going to tell you about today are progressive which means that right now, it’s as good as it’s going to be for me and trust me it’s not good now. I used to notice that about once a year to every 8 months that I would have some type of problem that my body would not be able to recover from like it used to and then it became about every 6 months this would happen and now it’s sometimes as much as once a month that I will get sick or have an issued or an injury happen and I am not recovering from them. This is proof just how progressive these can be. What scares me about this is that although I could certainly die from complications of the major heart issues that I have that is part of the EDS and OI, or a ruptured organ, or artery, these syndromes do not kill you. I guess that is good news, but it’s also bad news for me because the people in my family tend to live well into their 90’s and I am on 51. I do know in my family my birth father had EDS, who I have inherited these from. He died at an earlier age due to complications of a car accident. I’m adopted but I have met my birth families and I also have a half-sister from my birth father who has EDS along with her children.
So on to the syndromes that I have. One is called Ehlers Danlos Syndrome Classical Type 1 or sometimes just known as Classical Type. The type I have effects about 1 in 20,000 to 50,000 people although there are many others out there like I was who have gone undiagnosed. I have another rare genetic disorder called Osteogenesis Imperfecta Type 1.
To have the combination of EDS and OI is very rare. I was told by my doctor that less than 50 people in the world have this. I'm sure that with research and better ways of testing that more people would be found to have this same combination.
Another syndrome I have is called Platypnea-Orthodeoxia Syndrome. This is caused, for me, because of a hole that I have in my heart that I was born with. The hole opens and closes depending on the position my body is in. I have been told by my heart doctor that less than 30 people in the world have this disorder. I would call that pretty rate. The symptoms occur when the patient is upright, sitting up or standing, and go away quickly when the patient lays down. I will share more about this syndrome in another post.
A few more rare things that I deal with are:
Mast Cell Activation Syndrome
I will explain all of these in another blog post.
What is Osteogenesis Imperfecta (OI)?
Osteogenesis imperfecta (OI) or Brittle Bone Disease is a complicated, variable and rare disorder. Its major feature is a fragile skeleton, but many other body systems are also affected. OI is caused by a mutation (change) in a gene that affects bone formation, bone strength and the structure of other tissues. It is a life-long disorder. OI occurs equally among males and females and in all racial groups. It is estimated that approximately 25,000 to 50,000 people in the U.S. have OI. (Having OI and EDS Classical type together is extremely rare, it is said that there are less than 30 people in the world with this combination.) With good medical management and supportive care, the majority of people who have OI can expect an average life span.
People with OI experience frequent broken bones from infancy through puberty. The frequency typically decreases in the young adult years but may increase again later in life. Respiratory problems including asthma are often seen. Other medical characteristics and issues include:
Bone deformity, and bone pain.
Low Bone Density.
Loose joints, ligament laxity, and muscle weakness are common.
Distinctive features of the skull including late closing fontanels, and head circumference greater than average.
Hearing loss may begin in the early 20s and by middle age is present in more than 50% of people with OI.
Brittle teeth (called dentinogenesis imperfecta or DI) are seen in 50% of people who have OI
Respiratory problems including asthma; may be aggravated by chest wall deformity and/or spine deformity.
Vision problems including myopia and risk for retinal detachment
Skin hyperlaxity; easy bruising.
Basilar Invagination a serious neurological problem is seen in some people with the more severe forms of OI.
Skin, blood vessels and internal organs may be fragile.
OI exhibits wide variation in appearance and severity. Severity is described as mild, moderate, or severe. The most severe forms lead to early death. Clinical features (observable signs) such as fracture frequency, muscle strength or extraskeletal problems vary widely not only between types, but within types, and even within the same family. Some features are age-dependent.
Types of OI
Since the 1970’s a list of numbered types has been used to describe the different forms of OI. The original list featured 4 Types. Today, as a result of recent research 15 Types of OI have been identified. Many people with OI do not fit clearly into one of the identified types and not all characteristics are seen in each person. A description of the more common OI Types follows. Understanding the individual’s OI Type provides a starting point for understanding the person’s health care needs. But due to all of the variable features, care for each person needs to be individualized.
People with Type I OI, the mildest and most common form, may have only a handful of fractures or as many as several dozen fractures in a lifetime. They may have few obvious signs of the disorder. There usually is little or no bone deformity. Height is less affected than in other types of OI. People with Type I OI are often similar in height to other family members. Muscle weakness, joint laxity, and flat feet are common. Dislocations and sprains may occur as well as fractures. Life expectancy appears to be average.
Type II OI is the most severe form. Infants are quite small and are usually born with multiple fractures, an unusually soft skull, and an unstable neck. Limbs may be disproportionately small and legs may fall into a frog-like position. The head may be large for the size of the body. Almost all infants with Type II OI die at or shortly after birth, often due to respiratory problems. In the newborn period, it can be difficult to distinguish between Type II and severe Type III OI. This means that some children diagnosed clinically as Type II at birth may actually have Type III OI and have a longer life expectancy.
People with Type III OI are born with fractures. X-rays may reveal healed fractures that occurred before birth. Common signs include short stature, progressive long bone deformities, spinal curvature, and a barrel-shaped rib cage. People with Type III OI may have anywhere from several dozens to several hundred fractures in a lifetime. Surgical correction of long bone bowing and scoliosis is common. Life expectancy varies. Some people with Type III OI have severe, sometimes fatal, respiratory problems in infancy or childhood. Some children and adults with severe Type III OI may require supplemental oxygen. Some individuals succumb to respiratory problems in adulthood due to progressive rib cage and spine deformities. Other people with Type III OI will have a near-average life span.
Type IV OI is the moderate type of OI. The clinical picture can be similar to Type I OI or more like Type III OI. People with this form of OI may be somewhat shorter than others in their family, have frequent fractures that decrease after puberty, and have mild to moderate bone deformity. Life expectancy appears to be average.
Type V is moderate in severity and is similar to Type IV in appearance and symptoms. Identifying features include hypertrophic calluses that may form at fracture or surgical procedure sites and restricted forearm rotation due to calcification of the membrane between the radius and ulna.
Type VI is another moderate form and is similar to Type IV in appearance. This is an extremely rare form. It is distinguished by a characteristic mineralization defect that can be seen in biopsied bone.
How Is OI Inherited?
Osteogenesis imperfecta (OI) is a genetic disorder. Most cases (90 percent) are caused by a faulty gene that reduces either the amount or the quality of type 1 collagen throughout the body. These mutations are inherited in a dominant manner. The other 10 percent of cases are caused by mutations in other genes that are inherited in either a dominant or a recessive manner.
Children inherit two copies of each gene – one from each parent. When OI is caused by a dominant mutation only one copy of the OI gene mutation is necessary for the child to have OI. In the majority of cases, the gene is either inherited from a parent who has OI or results from a spontaneous new mutation occurring at the time of conception. In rare cases, dominant OI can occur when a parent is mosaic for an OI mutation. This means that an OI causing mutation is present in a percentage of one parent’s cells, but does not cause any symptoms in the parent. For a child to inherit OI in a recessive manner, the gene mutation must come from both parents. In this situation, the parents do not have OI, but both carry the mutation in their genes.
A person who has dominant OI has a 50 percent chance of passing on the disorder to each of his or her children. An affected child will have the same mutation, and therefore the same type of OI, as the parent. However, the expression— the degree of severity, or number of fractures— may be different. Unaffected siblings of a child with dominant OI have no greater risk of having children with OI than anyone in the general population. Unaffected siblings of a child with recessive OI have a 67 percent chance of being a carrier for the recessive gene. Genetic testing is available for siblings.
How is OI Diagnosed?
Broken bones that occur from little or no trauma are often the first indication that an infant or child may have OI. Babies with moderate or severe forms of OI are often born with broken bones. Children with milder OI (Type I) often sustain their first broken bone as a result of normal activity—during a diaper change, while being lifted or burped, or when they begin standing and walking. Some very mild cases of OI Type I are not diagnosed until the teen or adult years.
OI remains primarily a clinical diagnosis. A physician, usually a geneticist, who is familiar with all types of OI, can often diagnose the condition based on the presence of fractures and other clinical features. A family history for the disorder and/or genetic testing can confirm a diagnosis. Additional blood and urine tests are often used to rule out other disorders such as Hypophosphatasia or rickets.
The more severe forms of OI can be diagnosed prenatally. Ultrasound can detect bowing, fractures, shortening or other bone abnormalities. But even when ultrasound is done by a highly qualified professional, it may not be possible to pinpoint the type of OI or differentiate between Type II or Type III.
How is OI Treated?
There is no cure for OI, but there are ways to manage the symptoms. Despite the obstacles, many people who have OI lead productive and fulfilling lives well into their adult years. The goal of all treatment is to minimize fractures, enhance independent function, and promote general health. Medical care for children and adults who have OI involves an interdisciplinary team. This can include a primary care doctor, orthopedists, endocrinologists, geneticists, rehabilitation specialists, neurologists, and pulmonologists. Treatment may include fracture care, physical therapy, surgical procedures, medications, lifestyle features, and mobility aids.
Fracture Care. Casting, splinting and bracing broken bones can help them heal properly. However long periods of immobility can further weaken bones and lead to muscle loss, weakness, and more fractures. Many orthopedists prefer to treat fractures with short term immobilization in lightweight casts, splints, or braces to allow some movement as soon as possible after the fracture.
Physical Therapy and Safe Exercise. Goals for physical therapy include expanding and maintaining function and promoting independence. A typical program includes muscle strengthening and aerobic conditioning. Physical therapy often begins in infancy to counteract the delay in motor skill development many children experience due to OI related muscle weakness. Adaptive devices may be needed. Occupational therapy can help with fine motor skills and selection of adaptive equipment for daily living. As a child with OI grows older and gains more independence, he or she will benefit from continued physical activity, such as adapted physical education. Adults with OI also benefit from safe, regular exercise to maintain bone and muscle mass. Swimming and water therapy are particularly well-suited for people with OI of all ages, as they allow independent movement with little fracture risk. Walking is also an excellent exercise for those who are able (with or without mobility aids).
Surgery. Surgery may be needed to repair a broken bone, correct bone deformities such as bowing, stabilize the spine or repair tiny bones in the middle ear and improve hearing. Many children with OI undergo a surgical procedure known as rodding, in which metal rods are inserted into the long bones to control fractures and improve deformities that interfere with function. Both non-expandable and expandable rods are available.
Medications. Bisphosphonate drugs, which are currently approved by the Food and Drug Administration (FDA) to prevent and treat osteoporosis are used off label to increase bone density in children and adults with moderate and severe OI. Other drugs that were developed to treat osteoporosis are also used to prevent age-related bone loss in adults who have OI. Teriparatide (a drug based on the parathyroid hormone) is one of them. Treatments under study include growth hormone and gene therapies. The search continues for a drug treatment that is specific for OI.
Healthy Lifestyle. People with OI benefit from a healthy lifestyle that includes safe exercise and a nutritious diet. Adequate intake of nutrients, such as Vitamin D and calcium is necessary to maintain bone health, however, extra-large doses of these nutrients are not recommended.
Maintaining a healthy weight is important since extra weight adds stress to the skeleton, heart, and lungs and reduces the ability to move easily. In addition, people with OI should avoid smoking, second-hand smoke, excessive alcohol or caffeine consumption, and steroid medications, all of which reduce bone density.
Other Treatments that focus on OI related symptoms include:
Crowns for brittle teeth
Supplemental oxygen for people with breathing problems
Mobility aids such as walkers, crutches, canes, and wheelchairs
Are There Precautions to Take When Caring for People with OI? Never pull or push on a limb, or bend it into an awkward position not even to take an x-ray.
Use caution when inserting IVs, taking blood pressure, or performing other medical procedures to avoid causing injury.
Always dose medicines to the size, NOT the age of short-statured adults.
When a fracture is suspected, minimize handling of the affected limb.
Respect the opinions, advice, or instructions provided by parents, children, and adults with OI. Based on experience they give good directions for the safest ways to lift, carry or reposition. Having dealt with dozens of fractures and medical procedures, even children have a good sense of when a bone is broken even before x-rays are taken.
Handle babies with extra care.
Lift a baby with OI by placing one hand under the buttocks and legs, and the other hand under the shoulders, neck, and head.
Do not lift the baby from under the armpits.
Do not lift by the ankles to change a diaper; rather slide a hand under the buttocks.
Babies do not need to be kept on a pillow or soft surface. Encourage babies to explore independent movement.
Supporting infants in a variety of positions (e.g., side lying, stomach lying) develops muscles that will help with sitting and standing later on.
OI in History
There is evidence that OI has affected people since ancient times. It has been recognized in an Egyptian mummy of an infant from about 1000 BC. The mummy is currently in the British Museum in London, England. A Viking leader who lived in the 9th century, Ivar Ragnarsson “Ivar the Boneless,” probably had OI. He is reported to have been a very wise leader and a very fierce warrior who had to be carried into battle on a shield because his legs were so soft. Case studies of people with fragile bones and hearing loss began appearing in medical literature in the 1600s. The term “osteogenesis imperfecta” was used in medical literature beginning in the 1840s. Early in the 20th century, OI was identified as a condition people were born with rather than an illness they acquired later. Today, people who have OI are involved in every walk of life.
This article is based on the brochure, Introduction to Osteogenesis Imperfecta: A Guide for Medical Professionals, Individuals and Families Affected by OI. See the section of this website – “About OI/Publications” – for fact sheets, booklets and videos that provide additional information on many topics related to understanding, treating and living with OI.
I’ve said this before and I’ll say it again…..
It is good to know what is wrong with me as Ehlers Danlos Syndrome and Osteogenesis Imperfecta OI explains everything that has ever been wrong with me from literally the top of my head to the bottom of my feet since birth. I am however dealing with the reality that my pain and fatigue along with many other things that I deal with will be with me for the rest of my life. My pain greets me in the morning, stays with me in every step I take and every movement that I make, it puts me to bed at night, or earlier, and it haunts my dreams and wakes me from my dreams nightly. This as for now will be the rest of my life.