By Carri Levy of Behind the Mystery: Rare and Genetic
It bothers me that there are over 7000 rare diseases. I wish I could educate you on all of them, but I just don’t think that you would have stopped to read this blog if it had said, ” Seven Thousand Rare Diseases You Had No Idea Existed.
Severe Malignant OsteoPetrosis
We’ve all heard of osteoporosis – a common disease as we get older that results in bones that are not dense enough. But have you ever heard of severe malignant osteopetrosis? Unless you’re one of only 200 families in the entire country dealing with this devastating diagnosis… you probably haven’t.
But severe malignant osteopetrosis is a very rare bone disease. It afflicts babies and young children, its symptoms are devastating, and the financial burden of treatment options weighs heavily on the families it affects. Thanks to physicians like Dr. Paul Orchard, one of the experts in the U.S. in the use of bone marrow stem cell transplants needed by malignant osteopetrosis patients, life expectancy for these young patients is remarkably improved. And thanks to patient advocates like Paul and Barbara Wersten, who fought for the life of their baby Ryan, support organizations like the Ryan Wersten MIOP Foundation are available to patient families. Currently there is also an FDA-approved treatment called ACTIMMUNE® (Interferon Gamma-1b), marketed by Horizon Pharma Inc., helps delay time to disease progression for patients with SMO. Because of these efforts, and ongoing research families dealing with SMO have more hope today.
Learn more at http://www.curemiop.org
Chronic Granulomatous Disease
Your body is a walking miracle. At any given time, at the cellular level, your body is fighting a very real war – a war against infections, bacteria and unwanted microorganisms. But what if you are an unknown carrier of a genetic disorder that disables certain white blood cells, called phagocytes, from responding properly? These important policing agents are responsible for killing harmful microorganisms like bacteria and fungi. Moms who carry this defective chromosome pattern may pass the defect to their child, in which case chronic granulomatous disease may result. This rare and once deadly disease can cause dangerous symptoms in babies, infants and young children including severe and recurring bacterial and fungal infections like staph, and inflammatory masses in their organs called granulomas. Today, due to heightened awareness among doctors, available diagnostic blood testing for CGD, and advanced treatment options, survival rates are high and patients are living with and managing CGD well into adulthood.
Paroxysmal Nocturnal Hemoglobinuria
PNH is a deadly life-threatening disease with devastating consequences. 35% of patients die within 5 years of diagnosis despite best supportive care. You might not have heard of PNH–it’s a rare blood disorder that affects a few patients per million. But its rarity doesn’t make it any less significant.
Alpha –1, or Antitrypsin Deficiency
Alpha-1 Antitrypsin Deficiency (Alpha-1) is a genetic (inherited) condition – it is passed from parents to their children through their genes. Alpha-1 may result in serious lung disease in adults and/or liver disease at any age.
For each trait a person inherits, there are usually two genes; one gene comes from each parent. People with Alpha-1 have received two abnormal alpha-1 antitrypsin genes. One of these abnormal genes came from their mother and one from their father.
HoFH or Homozygous Familial Hypercholesterolemi
What if you had high cholesterol but diet, exercise and commonly used medications couldn’t lower your cholesterol to a recommended level? This frightening condition is real. It’s called HoFH or Homozygous Familial Hypercholesterolemia, and people inherit it from both of their parents.