Featured Articles
Read our latest stories on the people and scientific innovations making a difference in patients’ lives.
What are the Gaucher Disease Symptoms
Q: What is Gaucher disease?A: Gaucher disease is a rare, inherited disease. It was first described by Dr. Philippe Gaucher in 1882 and is caused by genetic mutations (a permanent change in the DNA of a gene) received from both parents. In people with Gaucher disease, the body’s cells do not produce enough of an enzyme called glucocerebrosidase (pronounced “GLOO-ko-SERe-bro-sy-dase”). Without enough of this enzyme, people with Gaucher disease can’t break down a fatty substance found in cells...
Supporting the Hemophilia Community
Hemophilia is a rare and life-long bleeding disorder in which the blood does not clot normally. While people with hemophilia can lead fairly normal lives with certain precautions to prevent and control bleeds, managing the condition can be challenging. Those living with hemophilia or caring for someone with hemophilia can face a wide range of difficulties—including medical, psychological, social and financial – which is why a strong network of support is a vital part of comprehensive care. Ea...
Overcoming the Stigma of Sickle Cell Disease
People living with sickle cell disease (SCD), an inherited blood disorder that primarily affects African Americans in the U.S., have to deal with constant fatigue and severely painful episodes that can last for a few hours or as long as a week. Adding to these daily challenges, family, friends, and the general public can sometimes view people with SCD as weak, lazy or faking their symptoms. These stigmas even exist in healthcare settings, making it more difficult for people living with SCD to...
How I Became A Sickle Cell Warrior
In Kenya, where I was born, many people are aware of Sickle Cell Disease (SCD), more so than in the U.S. This may be because there is a greater proportion of the population in Africa that has the disease. My older brother and I were both born with SCD. We have also witnessed many people suffer from and lose family members and friends to the disease. For a long time, I lived in denial about having SCD. As a child, my view of it was very negative; I could not imagine anything positive ever...
Common Misconceptions About Vitiligo
Vitiligo (pronounced: vittle-EYE-go) is a skin disorder that causes depigmentation (loss of skin color) in irregular patchy patterns. The disorder itself is rare, affecting only about 0.5% to 1% of the world’s population. Though vitiligo is neither fatal nor life-threatening, there is a social stigma that results in lowered self-esteem among those with the skin condition. As a dermatologist who has treated many patients with vitiligo, raising awareness is one way to help dispel the damaging...
Understanding Genetic Testing
How much do you really know about health problems that may run in your family? Are there any that may affect you now or in the future? Or that may affect your children? Genetic testing can help people and their healthcare providers make more informed health care decisions. But there are some potential limitations of genetic testing to be aware of, too. Read on to learn more. The background: What are genes/chromosomes? Genes are found in chromosomes, which are located inside cells. Genes...
My Story: Lupus and Pregnancy, What If?
Having lupus and wanting to have a child I always knew I wanted to be a mother—and to be one at a relatively young age too. It was something I started thinking seriously about after I graduated from college. The issue for me was that I was diagnosed with lupus when I was 17. For many women with lupus, it is possible to have a successful pregnancy. However, all lupus pregnancies are considered high risk, for both mother and baby. That made the decision to get pregnant the biggest health...
Science & Innovation
Investigating the Next Wave of Innovation to Help People with Hemophilia
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A Rare Disease Halts a Navy Pilot’s Dreams, But Gives Him a New Mission as Patient Advocate
Cory Woodall flew as a Navy flight instructor before his symptoms from Wilson disease became too debilitating. In 2017, Cory Woodall, was living his dream. A U.S. Navy flight instructor, he flew a P-3 Orion— a surveillance aircraft— with ease, and hoped to someday become a commercial pilot. But he soon started developing troubling symptoms. His hands shook from tremors, and his reaction time and cognition had slowed. “It interfered with my flying to the point that I needed to take a...
Working to Develop a More Safe and Convenient Treatment Option for Patients with Rare Platelet Disorder
While many people have heard of the blood disorder hemophilia, immune thrombocytopenia (ITP) is a lesser-known bleeding disorder that also severely impacts patients’ quality of life. When you have a cut or injury, thrombocytes, or platelets, are tiny, colorless cell fragments that form a “plug” in blood vessels to help begin the clotting process. ITP is an autoimmune condition that causes a person’s immune system to attack their platelets, leading to low platelet counts. Some people with ITP...
Living & Wellbeing
World Duchenne Awareness Day: It’s More Than Muscles
What are boys between the ages of 1 and 6 doing? Well, for a rare few, they have been diagnosed with Duchenne muscular dystrophy (also known as DMD). Did you know that 90% of boys diagnosed with Duchenne are in wheelchairs by age 15? Even more surprising, according to recent studies of boys living with Duchenne, approximately 32% had attention-deficit/hyperactivity disorder (ADHD), 26% had learning difficulties, and 17-27% had an intellectual disability. In recognition of World Duchenne...
A Novel Approach to Hemophilia: Stopping the Body’s Natural Clotting Brakes
Our bodies delicately balance clotting and anti-clotting mechanisms, which help to stop bleeding when there’s an injury or dissolve dangerous clots that can form in blood vessels. But for patients with hemophilia, a rare genetic disease that causes deficiencies in clotting factor VIII or IX, this delicate balance is upset. Patients experience excessive bleeding after an injury and can suffer permanent joint damage following repeated bleeding episodes. For decades, the most common...
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