I sprained my thumb in my sleep a few days ago. The symptoms point to a condition called De Quervain’s tenosynovitis. An extremely painful sensation runs from my thumb to my wrist joint if I move my thumb in certain ways. Putting pressure on it, as I’m forced to…
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Note: This story was updated Nov. 6, 2020, to clarify key scientific concepts. The gene-editing tool CRISPR/Cas9 enables a targeted gene insertion approach that may be superior to conventional gene therapy at restoring the activity of factor IX (FIX), the blood-clotting protein missing in people with…
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The Truths About Being a Carer
When I’m browsing online, I often see posts dedicated to carers of people with disabilities, calling them “unsung heroes” for sacrificing time and convenience for their loved ones’ well-being. As the wife of a person with disabilities, I can attest that is often the case. I believe carers deserve recognition.
Von Willebrand disease (VWD) is an inherited bleeding disorder with an estimated prevalence between 23 and 110 per 1 million people. These numbers vary because the criteria for diagnosis are not always the same. Causes of VWD VWD is caused by mutations in the VWF gene. This gene…
Bayer is recalling two lots of product vials that have been wrongly labeled as Kogenate FS antihemophilic factor (recombinant) 2000 IU, when in reality they contain Jivi antihemophilic factor (recombinant) PEGylated-aucl 3000 IU. Both Kogenate (BAY14-2222) and Jivi (BAY 94-9027) are factor VIII replacement therapies…
My husband, Jared, and I have an open-door policy for our friends. We warmly welcome them, whether they need a place to stay for the night, a safe haven after a tough experience, a spot to relax, or a place to celebrate life’s victories. In our home, friends become part…
Laughable. That’s how Heidi Bentz and Lucrecia E. Choto, two women who struggled for years to receive a proper diagnosis of von Willebrand disease (VWD), described the results of a 2004 survey by the U.S. Centers for Disease Control and Prevention (CDC) of 75 women who…
If you are active on social media and have a chronic illness, you’ve probably come across the term “spoonie.” The word comes from a woman’s explanation of how she has to manage her energy levels each day.  As she was in a cafe at the time, she grabbed a bunch of spoons…
My husband, Jared, and I have been fur parents for a while. In 2020, we welcomed our first family pet, a golden retriever named Lucky, followed by a delightful Himalayan cat we named Billy. Our home has been lively with the presence of animals for the past three years.
At least 800 people representing some 45 countries are soon expected to gather in Austria’s capital city, Vienna, for ECRD 2018, the 9th European Conference on Rare Diseases and Orphan Products. The May 10-12 meeting is sponsored by Eurordis, the Paris-based group that defines itself as a “patient-driven alliance”…