What we care about
Rare is relative
Although each condition affects relatively few people, more than 30 million people in the United States and another 30 million in Europe are living with a rare disease.
One reason Hemorare is focused on rare diseases and disorders is that – by definition – too few others are. So the patients and the families who deal with rare disease often have fewer sources of support than people suffering from more common conditions.
The designation of “rare disease” is not just a description, it is a term specifically defined within the framework of regulation and support in any given country. In the United States it is defined by the Orphan Medicinal Products Regulation, as a disease or condition that affects less than 200,000 people in the country. In the European Union it is defined as a condition that is life-threatening, chronically debilitating and of low prevalence, which they limit to 5 in 10,000 (or 1 in 2,000).
In fact, these definitions are quite similar, since 200,000 in a current US population of ~342,000,000 translates to 1 in more than 1,700.
The term “Orphan” is often applied to rare conditions (i.e. “Orphan Disease”) and the drugs that treat them are then called “Orphan Drugs.” This reflects the fact that these conditions are often – perhaps understandably – overlooked and neglected by research, most notably by pharmaceutical companies that cannot justify large expenditures to develop a drug for so few people.
Living with a rare disease or caring for someone facing a rare disease can be a difficult journey. The lack of firm medical and scientific understanding, available treatments, organized support and general awareness, makes for a daunting journey. Uncertainty prevails. Lack of understanding can constrain empathy. Hemorare is determined to focus on the patient experience, doing what we can to improve life for those suffering from rare blood disorders.
1. U.S. Food and Drug Administration. Orphan Drug Act—Relevant Excerpts.
2. European Parliament & Council of the European Union. Regulation (EC) No 141/2000 on orphan medicinal products.
3. European Medicines Agency. Orphan designation: Overview.
The subset of rare disorders that we at Hemorare aim to contribute our efforts are rare blood disorders. Blood is actually quite complex. It consists of several kinds of cells suspended in a protein-rich fluid – plasma – and provides many varied functions from transportation of oxygen (via red cells) to fighting infection (by white cells) to stemming bleeding (with platelets) to regulating body temperature and Ph levels. A lot can go wrong and there are many blood disorders – more than 1,000.
A blood disorder is any disease that prevents your blood from working properly. It could mean certain kinds of cells are not working as they should or that you have too many or too few of them. Blood disorders can be categorized in a number of ways. They can be malignant (cancerous) or non-malignant, genetic or acquired. They are often placed within three general types: Anemias, affecting red blood cells; Leukemias and lymphomas, affecting white cells and coagulation disorders that are either hemorrhagic, causing excess bleeding, or thrombotic resulting in excess clotting. Diseases affecting the bone marrow where blood cells are produced are also defined as blood disorders.
More than 300 blood disorders are classified as “rare”, that is, affecting fewer than one person in 2,000. Of these approximately half of them are malignant; more than 110 are rare anemias; and approximately 70 are coagulation disorders – around 45 hemorrhagic and 25 thrombotic.
Hemorare focusses on non-malignant coagulation disorders.
For detailed information https://www.orpha.net/en
When we bleed – from an injury, or from surgery, or even as part of menstruation, it is essential for our survival that the bleeding be stopped in a timely manner. Our bodies accomplish this feat of necessity through a complicated and impressive evolutionary mechanism known as the coagulation cascade.
We have all seen and experienced this, even if we did not understand the underlying process: we cut our finger, it bleeds and, if it is a small cut, even without a bandage, the bleeding stops and soon a scab forms and the cut eventually heals. The process is remarkably complex and involves as many as 30 different biological substances, including thirteen “clotting factors”. The absence or abnormality of any of these – especially the clotting factors – can result in spontaneous or excess bleeding with both immediate and long-term complications. This condition is known as a bleeding disorder. Most of them are rare, but many people suffer from them. Bleeding disorders can be life threatening and can cause many health challenges including chronic joint damage, anemia and iron deficiency.
Although there exist treatments for many bleeding disorders, they can be poorly publicized, difficult to access or complicated to administer (e.g., via infusion). It is a reachable goal to bring more and better treatments to more un- and under-served patients.
Roberta Palla, Flora Peyvandi, Amy D. Shapirobleeding disorders: diagnosis and treatment Blood 2015 (125) 13 Rare bleeding disorders: diagnosis and treatment | Blood | American Society of Hematology