Blau Syndrome: How You Can Overcome the Unknown Unknowns?
Because of our short lifespan on earth and the high rate at which we are adopting change, it is not unlikely that you may never know many things. More importantly, I would like to discuss why it’s a good thing! 1 – Completeness 2 – Validity 3 – Predictability 4 – Observability 5 – Expressiveness 6 – Informational robustness.
What is Blau Syndrome?
Blau Syndrome is a rare, inherited connective tissue disorder. People with Blau Syndrome have abnormal collagen, which can cause joint pain, skin problems, and problems with other organs. It usually develops around age 40 but can appear earlier or later.
Blau Syndrome is not contagious. The condition does not worsen over time and cannot be cured.
About 1 in 10 people with Blau Syndrome also have a heart valve abnormality called mitral valve prolapse. Most commonly, these people have a prolapse of the mitral valve leaflets, but about 1 in 10 people with Blau Syndrome also have a leaky mitral valve.
To date, research has identified three different types of Blau Syndrome caused by variations in a gene called CACNA1C. Every kind of Blau Syndrome is caused by a variation in a section of this gene that causes the misplacing of a protein.
What are the symptoms of Blau Syndrome?
The symptoms of Blau Syndrome are unknown. However, it is speculated that the syndrome affects the skin, joints, and eyes. The only known case of Blau Syndrome has been that of an 8-year-old boy. His symptoms included skin irritation and inflammation and a loss of fat tissue in his face and limbs.
The boy also had several abnormalities in his left eye, including a cloudy lens and white iris. The boy was reported to have died of pneumonia caused by an unknown infection.
What causes Blau Syndrome?
There is currently no known cause for Blau Syndrome. Researchers are still investigating the cause of this rare condition. There is currently no known cure for Blau Syndrome. Treatment focuses on managing the symptoms of this rare condition. We can use various medications to treat inflammation and pain.
Blau Syndrome is a rare condition with only about 200 known cases worldwide. One in every 50,000 births. It is a syndrome marked by the union of a rare combination of defects present at birth. It is a syndrome that brings the most significant risk of mortality, with many of those who suffer from it not surviving into adulthood.
And yet, it was one that Ian McEwan chose to have his first child, son Thomas, diagnosed with. His decision to take this step has been met with much criticism, but he remains unrepentant.
How is Blau Syndrome diagnosed?
Blau Syndrome is a rare disorder diagnosed through a process of elimination. Other connective tissue disorders are ruled out before a diagnosis of Blau Syndrome is given. There is no one exact test that can be used to diagnose Blau Syndrome. Doctors will look at your medical history, symptoms, and family history to diagnose.
A physical exam can also help diagnose Blau Syndrome. It is essential to see a genetic counselor if you or someone in your family has been diagnosed with Blau Syndrome. You will work with a genetic counselor to better understand the disease and how it might affect you.
Genetic testing can help verify the diagnosis of Blau Syndrome. However, this type of testing is not always necessary. We may use it if your child has Blau Syndrome and their parents don’t know carriers. A physical exam can also help diagnose Blau Syndrome.
How is Blau Syndrome treated?
There is no cure for Blau Syndrome, and there is no standard treatment. Treatment is based on the symptoms that are present. Some people may need surgery to correct problems with their bones or joints. Others may need medications to help control pain or inflammation. If a child has scoliosis, the doctor may refer the child to a pediatric orthopedic surgeon for evaluation.
When a doctor suspects scoliosis, a radiological (x-ray) study is usually done to determine the degree of curvature and other causes such as bone spurs or tumors. X-rays taken of the spine will show an abnormality in the shape of the spine that resembles an “S” or a “C.”
In some circumstances, there may be dissimilarities in leg length due to unequal growth of the spine. These tests are not considered diagnostic, but they will help your health care provider determine whether more definitive testing such as MRI is warranted. Other causes of back pain in children include:
- Herniated nucleus pulposus
- Sprain or strain
- Spinal stenosis
There are other causes of back pain in children. A comprehensive physical examination by a physician may reveal the cause of the pain.
What is the prognosis for someone with Blau Syndrome?
The prognosis for someone with Blau Syndrome is usually good, although some people may experience problems with their joints. It is recommended that people with Blau Syndrome take calcium and vitamin D supplements to strengthen their bones.
Health professionals have long recognized the link between rare or monogenic diseases and specific genetic syndromes. These connections are found in an estimated five percent of rare diseases. While these conditions can be inherited, they often occur spontaneously due to new gene mutations that cannot be passed down from parents to children. Researchers are unsure what causes Blau Syndrome. What are the symptoms of Blau Syndrome?
Blau syndrome symptoms vary, depending on the severity of the syndrome. Common symptoms include:
- Ataxia (a loss of muscle coordination)
- Developmental delay
- Small head size
Early signs and symptoms of Blau syndrome usually begin between two months and three years of age.
What research is being done on Blau Syndrome?
There is currently no cure for Blau Syndrome, and there is much to be learned about the genetic disorder. “The first thing we ought to do is collect the data, and that means getting kids out of one doctor’s office and into another,” O’Connor said. “That way, we can study this condition and work toward a treatment.” The Ohio State study team includes Jacobs and Jonathan Corcoran, MD, Ph.D., clinical associate professor of neurology. Both are members of the Neurological Institute.
The study involved 154 participants and was funded by the National Institutes of Health. The findings are published in the journal Brain, Behavior, and Immunity. Further study authors are from the University of Pennsylvania, Michigan, Ann Arbor, and McMaster University, Hamilton, Ontario.