Blog
LDSF Canada 2023 Rare Disease Day Statement
Transforming the Future of LDS “When you hear hoofbeats, don’t expect to see a zebra”. This adage was used to teach primary care professionals about looking for common conditions. But it is not so suitable when considering diagnosing and supporting patients with rare diseases like Loeys-Dietz syndrome. On Rare Disease Day 2023, our Foundation is standing with fellow rare disease foundations and patient groups: “Let’s reflect again, and look out for the horse with stripes”.
Pain Resources and Clinics for Loeys-Dietz Syndrome
People with Loeys-Dietz syndrome may experience pain throughout the body. Pain can be chronic (lasting more than three or four months) and negatively impact quality of life. To help decrease pain, we recommend: Reading about Loeys-Dietz syndrome and pain management strategies, chronic pain, and the impact of cold weather – read about pain here. Consulting this page’s information on pain resources, pain clinics, and pain clinic directories Pain Resources Find resources: Resources for Canadians living with
In Memory of Justin Fratino
Justin’s eulogy, delivered by his father Salvatore (Sal) Fratino: Justin was born on March 27, 1982 at 9:32 AM and 4 hours later, he had the 1st of many more medical interventions. Justin was born with a rare disorder that we found out many years later was known as the Loeys-Dietz syndrome (LDS) discovered by Doctors Bart Loeys and Hal Dietz at Johns Hopkins Hospital in Baltimore. Justin spent considerable time with both Bart and
Genetics and Loeys-Dietz Syndrome
Loeys-Dietz syndrome (LDS) is a genetic condition that affects the body’s connective tissue. As a genetic condition, it can be traced back to your genes and may be passed on to your children. What are genes? How can they impact you and your family? Keep reading to find out. Genetics 101 Our cells use genetic information known as DNA (deoxyribonucleic acid) to build molecules that help the body to function properly. Specific regions of DNA
Kristýna’s Story: “The story of an invisible”
My name is Kristýna, I am 28 years old and am a graduate clerk. I currently work in a supermarket and have been living in Prague for 10 years, but come from Cheb in the Czech Republic. I have a great husband, a wonderful son, a cat, fish, 64 house plants and Loeys-Dietz syndrome. I have been monitored in cardiology since childhood for frequent dizziness and initially a thinned heart wall at the atrial level.
Hélène’s Story
My name is Hélène, I am 45 years old, and my husband and I have 3 children. After over 20 years of doctors telling me not to worry about having Marfan syndrome, my son and I were diagnosed with Loeys-Dietz syndrome (LDS) type 2. Here is my story – of misdiagnosis, my hunch that something was not quite right, advocating for my children, and our testing, diagnosis and life with Loeys-Dietz syndrome. Diagnosis and Misdiagnosis