Hana Weltin, Intern at Beyond the Diagnosis, discusses how she advocates for herself and others in the rare disease space.
Ehlers-Danlos syndromes (EDS) are a group of rare inherited connective tissue disorders. EDS is caused by abnormalities in the structure, production, and/or processing of collagen. The symptoms of EDS vary by type and range from mildly loose joints to serious complications. Features shared by many types include joint hypermobility and soft, velvety skin that is highly elastic (stretchy) and bruises easily. Genetic changes in a variety of genes may lead to EDS. However, the underlying genetic cause in some families is unknown. Depending on the type, EDS may be inherited in an autosomal dominant or an autosomal recessive manner.
Postural orthostatic tachycardia syndrome (POTS) is characterized by orthostatic intolerance (OI). OI is a condition in which an excessively reduced volume of blood returns to the heart after an individual stands up from a lying down position. The primary symptom of OI is lightheadedness or fainting.
In POTS, the lightheadedness or fainting is also accompanied by a rapid increase in heartbeat of more than 30 beats per minute, or a heart rate that exceeds 120 beats per minute, within 10 minutes of rising.
Anyone at any age can develop POTS, but it mainly affects women between the ages of 15 to 50 years of age. The cause of the disorder is unknown. Treatment is targeted at relieving low blood volume or regulating circulatory problems that may cause the disorder.
Beyond the Diagnosis
At this year’s World Orphan Drug Congress, Beyond the Diagnosis presented their exhibition showcasing paintings of rare disease patients. The goal of this exhibition was to showcase how rare disease kids are the same as any other children. To see the exhibition, check out Beyond the Diagnosis’s website.
Ms. Weltin explains how important it is to advocate for those with rare diseases, as a patient herself living with EDS and POTS. While the diseases themselves are rare, having a rare disease is fairly common, and therefore a pressing issue to bring awareness to. From advocacy stems proper guidelines, care, and the ability to research and develop treatment options.
To learn more about rare diseases, visit https://checkrare.com/