“Osteogenesis imperfecta (OI), also known as brittle bone disease, is a rare genetic disorder characterized by fragile bones that fracture easily, often with little or no trauma. It results from defects in type I collagen production or quality.

Global prevalence

• The condition occurs in about 1 in 10,000 to 1 in 20,000 births worldwide biologyinsights.com+2.
• This translates to an estimated ~72,400 prevalent cases globally in recent years DelveInsight.

U.S. prevalence

• In the United States, the number of people living with OI is estimated at 25,000 to 50,000 biologyinsights.com+2.
• This range reflects challenges in diagnosing milder forms, which may go undetected.
• In 2023, U.S. prevalence data showed roughly 15,000 Type I, 3,300 Type II, 1,500 Type III, 2,800 Type IV, and ~4,800 “others” cases DelveInsight.

Incidence

• The incidence rate (new cases per year) is about 1 in 15,000 to 1 in 20,000 births worldwide biologyinsights.com+1.
• This rate is similar for both severe and milder forms of OI, as milder cases may not be diagnosed until later in life.

In summary, OI is a rare but significant genetic disorder, with ~72,000 people worldwide and ~25,000–50,000 in the U.S. living with the condition at any given time.”

Biology Insights (Osteogenesis Imperfecta Statistics: Prevalence and Types – Biology Insights)

How is osteogenesis imperfecta diagnosed in a child?

Your baby’s healthcare provider will ask questions about your baby’s medical history, your family and pregnancy history, and your baby’s current symptoms. He or she will examine your baby, looking for signs and symptoms of OI. The milder forms of OI may be difficult to diagnose in a baby.

Your baby’s healthcare provider may refer you to specialists with experience in diagnosing and treating OI. For example, your baby may be referred to a specialist in genetic conditions (geneticist) or in bone disorders (orthopedist).

Your baby’s healthcare provider or the specialists may recommend the following diagnostic tests:

• X-rays. These may show many changes such as weak or deformed bones and fractures.
• Lab tests. Blood, saliva, and skin may be checked. The tests may include gene testing.
• Dual Energy X-ray Absorptiometry scan (DXA or DEXA scan). A scan of the bones to check for softening.
• Bone biopsy. A sample of the hipbone is checked. This test requires sleep medicine (general anesthesia).

How is osteogenesis imperfecta treated in a child?

Your child’s healthcare provider will figure out the best treatment based on:

• How old your child is
• Your child’s overall health and medical history
• How sick your child is
• How well your child handles certain medicines, treatments, or therapies
• If your child’s condition is expected to get worse
• Your opinion and preference

The main goal of treatment is to prevent deformities and fractures. And, once your child gets older, to allow him or her to function as independently as possible. Treatments for preventing or correcting symptoms may include:

• Bisphosphonate medicines. These are medicines that help to strengthen bones and prevent fractures. They may be used in most types of OI. They may be given by mouth or by IV (intravenous line) into a vein.
• Care of fractures. The lightest possible materials are used to cast fractured bones. To prevent further problems, it is recommended that a child begin moving or using the affected area as soon as possible.
• Orthopedic treatment. May include bracing and splinting. Surgery may also be needed.
• Rodding. Metal rods are inserted to help hold in place (stabilize) and prevent deformities of long bones.
• Dental procedures. Treatments, including capping teeth, braces, and surgery may be needed.
• Physical and occupational therapy. Both are very important in babies and children with OI.
• Assistive devices. Wheelchairs and other custom-made equipment may be needed as babies get older.

What are the possible complications of osteogenesis imperfecta in a child?

Complications may affect most body systems in a baby or child with OI. The risk of developing complications depends on the type and severity of your baby’s OI. Complications may include the following:

• Respiratory infections, such as pneumonia
• Heart problems such as poor heart valve function
• Kidney stones
• Joint problems
• Hearing loss
• Eye conditions and vision loss

How can I help my child live with osteogenesis imperfecta?

OI is a lifelong condition. Managing it may include the following:

• Avoiding fractures. If your baby has medium to severe OI, he or she needs to be picked up, diapered, and dressed very carefully. His or her position should be changed throughout the day. As your baby gets older, it will be important to help him or her avoid injuries. A physical or occupational therapist, as well as other healthcare providers, can help.
• Avoiding infection. Your baby may be more likely to get colds and other respiratory infections. And he or she may get sicker with an infection. Make sure your baby has all of his vaccines (immunizations). During cold and flu season, stay away from crowds. Make sure that you wash your hands well. As your child gets older, teach him or her to do the same.
• Dealing with pain. Fractures and deformities can be very painful. Talk with your baby’s healthcare provider about pain medicine or other ways to lessen pain.
• Dealing with challenges. As your child gets older, he or she may have emotional and physical challenges.
• Regular medical and dental checkups. Your baby will need regular checkups and tests. These include eye and dental exams.
• Weight management. When your child gets older he or she may gain weight because of the decreased physical activity.

“Osteogenesis imperfecta (OI) is a genetic or heritable disease in which bones fracture (break) easily, often with no obvious cause or minimal injury. OI is also known as brittle bone disease, and the symptoms can range from mild with only a few fractures to severe with many medical complications.

For most people, a change or defect in the genes that carry the instructions for making type I collagen causes OI.  Type I collagen is a material in bones that helps make them strong. The defect in the genes causes the body to make collagen incorrectly or not make enough, leading to weak bones that break more easily. There is no way to prevent the disease.”

National Institute of Arthritis and Musculoskeletal and Skin Disorders (Osteogenesis Imperfecta Symptoms, Types, & Causes | NIAMS)

Osteogenesis imperfecta (OI) is an inherited (genetic) bone disorder that is present at birth. It is also known as brittle bone disease. A child born with OI may have soft bones that break (fracture) easily, bones that are not formed normally, and other problems. Signs and symptoms may range from mild to severe.

There are at least 8 different types of the disease. The types vary greatly, both within and between types. They are based on the type of inheritance (see below), and signs and symptoms. These include findings on X-rays and other imaging tests. The OI types are as follows:

• Type I. Mildest and most common type. About 50% of all affected children have this type. There are few fractures and deformities
• Type II. Most severe type. A baby has very short arms and legs, a small chest, and soft skull. He or she may be born with fractured bones. He or she may also have a low birth weight and lungs that are not well developed. A baby with type II OI usually dies within weeks of birth
• Type III. Most severe type in babies who don’t die as newborns. At birth, a baby may have slightly shorter arms and legs than normal and arm, leg, and rib fractures. A baby may also have a larger than normal head, a triangle-shaped face, a deformed chest and spine, and breathing and swallowing problems. These symptoms are different in each baby.
• Type IV. Symptoms are between mild and severe. A baby with type IV may be diagnosed at birth. He or she may not have any fractures until crawling or walking. The bones of the arms and legs may not be straight. He or she may not grow normally.
• Type V. Similar to type IV. Symptoms may be medium to severe. It is common to have enlarged thickened areas (hypertrophic calluses) in the areas where large bones are fractured
• Type VI. Very rare. Symptoms are medium. Similar to type IV.
• Type VII. May be like type IV or type II. It is common to have shorter than normal height. Also common to have shorter than normal upper arm and thighbones.
• Type VIII. Similar to types II and III. Very soft bones and severe growth problems.

What causes osteogenesis imperfecta in a child?

OI is passed on through the genes. The different types are passed on in different ways. The gene may be inherited from one or both parents. Or the gene can be passed on from an unexplained change (spontaneous mutation) of a gene.

Most babies with OI have a defect of one of two genes. These genes help in forming collagen. Collagen is a main part of connective tissue that connects and supports the whole body, including the bones. Because of the defect, there is not enough collagen. Or the collagen is abnormal.

What are the symptoms of osteogenesis imperfecta in a child?

The symptoms of OI vary greatly within and between types. Symptoms of OI include:

• Easily broken bones
• Bone deformities, such as bowing of the legs
• Discoloration of the white of the eye (sclera), may be blue or gray in color
• A barrel-shaped chest
• A curved spine
• A triangle-shaped face
• Loose joints
• Muscle weakness
• Skin that easily bruises
• Hearing loss in early adulthood
• Soft, discolored teeth

The symptoms of osteogenesis imperfecta may look like other medical conditions. Always see your child’s healthcare provider for a diagnosis.

“What your liver functions are:

• Your liver is essential to your life. It is the largest internal organ, and gland, in the body. It is about the size of a football and weighs up to 4 pounds. It is located on your right side, just under your rib cage.

• The liver performs more than 500 functions, many vital, including filtering toxins from your blood, managing blood clotting, making bile to digest fat, storing and controlling blood sugar for energy (glucose/glycogen), making protein for blood plasma, storing your body’s iron, creating proteins, eliminating old and damaged red blood cells, and helping fight off infections.

With Liver Disease:

• Liver disease is also called hepatic disease. There are many kinds of liver diseases and conditions, the most common are hepatitis virus infections, metabolic dysfunction–associated steatotic liver disease (MASLD) which is formerly known as nonalcoholic fatty liver disease (NAFLD), immune system abnormalities, inherited (genetic) conditions, cancer, damage from alcohol and substance use disorders, and others. There are more than 100 types of liver disease, most of which are in groups of subtypes.”

American Liver Foundation (Liver Functionality)

Liver disease is also referred to Hepatic Disease. Liver Disease is a term that is used when there is any disturbance of the liver function that causes illness. It is a broad term to describe when more than 75% or three quarters of liver tissue needed is affected and decreased function in the liver occurs. The number one cause of liver disease is alcohol abuse in North America. They can cause liver inflammation, referred to as alcoholic hepatitis. Other causes include Cirrhosis, Cholestasis, Steatosis, Hepatitis, Viruses, Non-Alcoholic Fatty Liver, Hemachromatosis, Wilson’s Disease and Gilbert’s Disease.

Causes: Cirrhosis

Cirrhosis is when the liver cells are replaced by permanent scar tissue as a result of chronic liver disease. It is considered the late-stage of liver disease. Cirrhosis is common among chronic alcohol abuse users where the fat accumulation occurs in the liver cells and causes scar tissue. Cholestasis is when the bile flow is obstructed from the gallbladder or duodenum. Steatosis is the term used when cholesterol and triglycerides accumulate in the liver.

Causes: Hepatitis

Hepatitis is a term used to describe the inflammation on liver cells. They can become inflamed due to infection.

There are many forms of Hepatitis:

Hepatitis A (Hep A) is a viral infection primarily spread through the fecal-oral route when small amounts of infected fecal matter are ingested. An acute inflammation of the liver occurs but there is a way to prevent this type of infection. There is a vaccine available and the best way to help prevent it is by a good hand washing.

Hepatitis B (Hep B) is spread by exposure to body fluids and can cause an acute infection. If left untreated, it can progress into a chronic inflammation and on into cirrhosis. There is also a vaccine for this form of hepatitis. Typically, the vaccine contains both Hep A and B in a combination series of doses.

Hepatitis C (Hep C) is caused by a virus different from Hep A or Hep B. It can either be “acute” or “chronic” and is primarily spread through contact with the blood of an infected person. The most common way is by sharing needles or other equipment to inject drugs. Before 1992, Hepatitis C was also commonly spread through blood transfusions and organ transplants which led to the start of a widespread screening of blood supplies. Another way it can be transmitted is through being born to a mother who has it. There are less common ways to contract Hepatitis C, and that’s through sharing personal care items that may have come into contact with another person’s blood (razors, toothbrushes), or having unprotected sex with a infected person. Some people are at an increased risk for Hepatitis C. Those individuals include: Children born to mothers infected with this Hep C; current injection drug users (most common way Hepatitis C is spread in the US), past injection drug users, recipients of donated blood (blood products and organs), hemodialysis patients who spent many years on dialysis for kidney failure, people who received body piercings or tattoos done with non-sterile instruments, & people with known exposure to Hepatitis C like Health care workers or recipients of blood or organs from a donor who tested positive.

Hepatitis D (Hep D) is known as “delta hepatitis” can also be “acute” or “chronic” but is uncommon in the United States. It requires the Hepatitis B virus to survive. It is transmitted through sexual contact with infected blood or blood products. There is also no vaccine available for this virus. Hepatitis E (Hep E) is caused by Ribonucleic Acid (RNA) virus. It is transmitted mainly through the fecal-oral route due to fecal contaminated drinking water.

Causes: NAFLD

Non-alcoholic fatty liver disease (NAFLD) is the build up of extra fat in liver cells that is not caused by alcohol. It is normal for the liver to contain some fat. liver’s weight is fat, then it NAFLD tends to develop in people who are overweight or obese or have diabetes, high cholesterol or high triglycerides. Rapid weight loss and poor eating habits also may lead to NAFLD. However, some people develop NAFLD even if they do not have any risk factors. NAFLD affects up to 25% of people in the United States. However, if more than 5% up to 10% of the liver’s weight is fat then the liver is called a fatty liver called steatosis.  Non-Alcoholic Fatty Liver (NAFL) describes the accumulation of fat within the liver that can cause an inflammation and a gradual decrease in function.

 Those at risk for NAFLD? NAFLD tends to develop in people who are overweight or obese or have diabetes, high cholesterol or high triglycerides. Rapid weight loss and poor eating habits also may lead to NAFLD. However, some people develop NAFLD even if they do not have any risk factors. NAFLD affects up to 25% of people in the United States.

RISKS NAFLD may cause the liver to swell (steatohepatitis). A swollen liver may cause scarring (cirrhosis) over time and may even lead to liver cancer or liver failure.

SYMPTOMS NAFLD often has no symptoms. When symptoms occur, they may include fatigue, weakness, weight loss, loss of appetite, nausea, abdominal pain, spider-like blood vessels, yellowing of the skin and eyes (jaundice), itching, fluid build up and swelling of the legs (edema) and abdomen (ascites), and mental confusion.

DIAGNOSIS NAFLD is initially suspected if blood tests show high levels of liver enzymes. However, other liver diseases are first ruled out through additional tests. Often, an ultrasound is used to confirm the NAFLD diagnosis.

“The HF Stats 2025: Heart Failure Epidemiology and Outcomes Statistics provides an update to past HF Stats reports and reveals that the lifetime risk of HF has increased to 24%, while the cost of this debilitating condition in the United States continues to soar.

Heart failure (HF) was a contributing cause in 425,147 deaths, accounting for 45% of cardiovascular deaths in the U.S. in 2022. HF mortality rates have been increasing since 2012, with a more pronounced acceleration in 2020-2021. The age-adjusted HF mortality rates were higher in 2021 than in 1999, highlighting an urgent need for improved HF prevention, implementation of guideline-directed therapies, and further research.

Black, American Indian, and Alaska Native individuals have the highest all-cause age-adjusted HF mortality rates compared with other racial and ethnic groups. From 2010 to 2020, HF mortality rates increased for Black individuals at a rate higher than any other racial or ethnic group, particularly for individuals below the age of 65.

Approximately 6.7 million Americans over 20 years of age have HF, and the prevalence is expected to rise to 8.7 million in 2030, 10.3 million in 2040, and 11.4 million by 2050.

The lifetime risk of HF has increased to 24%; approximately 1 in 4 individuals will develop HF in their lifetime. ”

Heart Failure Society of America -HFSA (Heart Failure Society of America (HFSA) Scientific Statement: Update on Device Based Therapies in Heart Failure)

The definition of heart failure, it occurs when the heart loses its ability to pump enough blood through the body. Usually, the loss in pumping action is a symptom of an underlying heart problem, such as hypertension and CAD = coronary artery disease. The term heart failure suggests a sudden that to get to a complete stop of heart activity but actually the heart does not suddenly or abruptly stop like in a cardiac arrest for example.

Instead, the way CHF works is that the heart failure usually develops over time, years. The heart first compensates with the disease or illness the individual has but, just like a car, after wear and tear the heart goes into decompensating to heart failure due to the heart decline. How serious is this condition? It varies from person to person depending on factors like an individual with obesity & unhealthy versus a person in healthier condition due to healthy habit lifestyles.

All people diagnosed or not diagnosed with heart failure lose a pumping capacity of the heart that happens as they age but diagnosed with heart failure makes the engine of the body a challenge in doing its function properly. The pump loss is more significant in the person with heart failure and often results from a heart attack (actual scaring to the heart tissue=death to that tissue area happens) or from other diseases that can damage the heart. The severity of the condition determines the impact it has on a person’s life.

At the other end, extremes, treatment often helps people lead a fuller life if the person follows the meds ordered by the doctor including the diet and activity/exercise the doctor orders to the patient with heart failure (compliance so important) including follow ups till they pass on in life. There are different levels of heart failure but even the mildest form is a serious health problem, which must be treated and have your cardiologist direct you. If the pump of the body (the heart) will just get worse in doing its function properly if you are not medically checked on. To improve the chance of living longer in an individual with heart failure, patients must take care of themselves, see their physician (cardiologist) on a regular basis, and closely follow treatments (as ordered) with knowing what heart failure actually is to understand how the disease works (is the failure on the right side or left side? Which in time will effect the other side especially if it gets worse rather than better). In knowing what side the failure is on it will make you understand what signs and symptoms to expect.

Types of Heart Failure:

The term congestive heart failure (CHF) is often used to describe all patients with heart failure. In reality, congestion=the buildup of fluids in the heart for not pumping correctly, just like pipes in a home not working properly=back up of water in the pipes, happens with CHF also to the fluids (blood) backing up in the lungs.   This is just one feature of the condition and does not occur in all patients. There are two main categories of heart failure although within each category, symptoms and effects may differ from patient to patient. The two categories are:    1-Systolic heart failure (systolic is the top number of your blood pressure=the heart at work). This occurs when the heart’s (muscle-myocardium) ability to contract (pump=being active) decreases, particularly starting on the L side of the heart where the muscle of the heart is thickest and most powerful (myocardium=heart muscle). The left side of the heart sends the highly oxygenated blood that just came from the lungs to be pumped out throughout the body to send oxygen (nutrients) to all our tissues.   When the heart is in left sided failure it cannot pump blood with enough force to push a sufficient amount out of the heart into the circulation through the aorta. This is not sending nutrients=oxygen like it does when not in failure.  The aorta is a artery (vessel) that leaves the L side of the heart (left side of the heart=highly oxygenated rich blood). Due to the heart not using enough force pushing the blood forward in the aorta this causes the blood to back up and cause it to go back up from the aorta into the L lower to the L upper chamber of the heart that goes further back up into the pulmonary vein into the lungs=congestion in the lungs due to the heart failure.

2-Diastolic heart failure (diastolic is the bottom number of your blood pressure which is the pressure when the heart is at rest). This failure occurs when the heart has a problem relaxing. The heart cannot properly fill with blood because the muscle of the heart due to trying so hard to compensate over a long period of time with disease (ex. High B/P, Obesity, etc…) strains the heart in doing its function that failure finally starts that the muscle of the heart (myocardium) becomes stiff. This causes the heart to lose its ability to relax to allow proper filling of the heart in upper and lower chambers=back up of the blood.   This failure starts on the right side of the heart causing the blood to back up away from the heart and may lead this blood that is highly concentrated with carbon dioxide to accumulation especially in the feet, ankles and legs. Some patients may have lung congestion.

Causes of Heart Failure:

As stated, the heart loses some of its blood pumping ability as a natural consequence of aging. How- ever, a number of other factors can lead to a potentially life-threatening loss of pumping activity.

As a symptom of underlying heart disease, heart failure is closely associated with the major risk factors for coronary heart disease: smoking, high cholesterol levels, hypertension (persistent high blood pressure), diabetes= abnormal blood sugar levels, and obesity. A person can change or eliminate those risk factors and thus lower their risk of developing or aggravating their heart disease and heart failure through healthy habits performed routinely, proper dieting, and balancing rest with exercise.

Among prominent risk factors, hypertension-HTN (high blood pressure) and diabetes are PARTICULARLY IMPORTANT. Uncontrolled HTN increases the risk of heart failure by 200 %, compared to those who do not have hypertension.   Moreover, the degree of risk appears directly related to the severity of the high blood pressure.

Persons with diabetes have about a two to eight fold greater risk of heart failure than those without diabetes. Women with diabetes have a greater risk of heart failure than men with diabetes. Part of the risk comes from the diabetes association with other risk factors for heart disease such as high cholesterol or obesity or other risk factors. However, the disease process of diabetes also damages the heart muscle.

The presence of coronary disease is among the greatest risks for heart failure. Muscle damage and scarring caused by a heart attack greatly increase the risk of heart failure. Cardiac arrhythmias, or irregular heartbeats, also raise heart failure risk. Any disorder that causes abnormal swelling or thickening of the heart sets the stage for heart failure.

In some people, heart failure arises from problems with heart valves, the flap-like structures that help regulate blood flow through the heart. Infections in the heart are another source of increased risk for heart failure.

A single risk factor may be sufficient to cause heart failure, but a combination of factors dramatically increases the risk. Advanced age adds to the potential impact of any heart failure risk.

Finally, genetic abnormalities contribute to the risk for certain types of heart disease, which in turn may lead to heart failure. However, in most instances, a specific genetic link to heart failure has not been identified.

SO LIVE AS HEALTHY AS POSSIBLE IN YOUR ROUTINE HABITS, YOUR DIETING OF THE 4 FOOD GROUPS, MAINTAINING YOUR WEIGHT IN A THEREPEUTIC RANGE (look as calculating BMI online for free to find out what your weight range for your height is), and BALANCING REST WITH EXERCISE TO HELP DECREASE THE CHANCE OF GETTING HEART FAILURE=PREVENTION!

“Cystic fibrosis is one of the most common genetic disorders in white people in the United States, occurring in one of every 3,200 live births. It is less common in African Americans (1 in 17,000), Asian Americans (1 in 31,000) and Native Americans. While still unusual in Hispanics, it is increasing in prominence over time (1 in 4,000 to 10,000).^3,4

• More than 30,000 children and adults in the United States are living with CF.
• Another 70,000 people with CF live in other countries.
• CF occurs equally in men and women.
• Approximately 1,000 new cases of CF are diagnosed each year.”

CysticFibrosis.com (How Common Is Cystic Fibrosis And Who Does It Affect?)