As Rose Bowl shines spotlight on rare disease, here are three others that affect millions of Americans

While millions of Americans tune in to watch Florida State and the University of Oregon play in the Rose Bowl Thursday, two families are using the high profile game to raise awareness for a rare disease, Fanconi anemia. Dave Frohnmayer is a former President of the University of Oregon, and he and his wife lost two daughters to the disease. Florida State coach Jimbo Fisher also has a son with Fanconi anemia. The Frohnmayers spoke to PBS NewHour’s Hari Sreenivasan about the disease and the unique fundraising opportunity. Watch that conversation tonight.

A disease in considered rare in the United States if it affects fewer than 200,000 Americans. The National Institutes of Health (NIH) says there are approximately 6,800 such diseases in the United States. When considered all together about 30 million Americans suffer from a rare disease.

Here are a few of those rare diseases and links to foundations supporting research and awareness.

Fanconi Anemia

Fanconi anemia is a rare genetic disorder that prevents DNA from repairing. Most Fanconi anemia patients develop cancer and experience bone marrow failure. The current life expectancy is 33 years old. The disease affects fewer than 1,000 Americans. There is currently no cure.

The Frohnmayers founded The Fanconi Anemia Research Fund 25 years ago. You can donate directly to their fund here.

Jimbo and Candi Fisher began Kidz1stFund in 2011. You can donate directly to their fund here.

http://youtu.be/2w8icCTebJw

Hope for Henry Foundation was founded for Laurie and Allen Strongin who lost their son, Henry, to Fanconi anemia in 2002. Hope for Henry provides carefully-chosen gifts and specially-designed programs for children with cancer or another serious illness in the D.C. area. You can donate online to their cause here.

Huntington’s Disease

Approximately one in 10,000 Americans has Huntington’s disease, an inherited progressive brain disorder that sees its patients lose control of both mental faculties and physical movements. People with Huntington’s typically begin showing symptoms between the ages of 30 to 50 and then have a 10 to 25 year life expectancy. There is no cure, but a lot of progress has been made to create treatments that slow down the disease’s deadly progression.

The Huntington’s Disease Society of America has a wide variety of resources from information about the disease to advice on both living with Huntington’s and taking care of someone with the disease. You can contribute to one of their programs here.

Apert Syndrome

Many rare diseases, such as Apert Syndrome, are evident at birth and remain with someone for their entire life. When a child is born with Apert Syndrome (approximately one in every 150,000 births) their face may appear scrunched up and their hands and feet won’t develop properly. It’s a craniofacial condition that causes a premature fusion of skull plates, meaning the child’s face will never grow properly resulting in severe complications and intense surgery. Their fingers and toes will also likely be fused together and require surgery to separate. Apert Syndrome is very rare and like many diseases that affect so few people, not a lot is known about it. There is no guess on life expectancy, but someone with Apert Syndrome should expect to have 20 to 60 surgeries during their lifetime as well as countless hours of physical and speech therapy.

The Craniofacial Foundation of America helps families that have a child born with a craniofacial birth defect or has experienced facial trauma. They have resources for parents and offer to cover non-medical expenses such as transportation to hospitals, food, lodging, and support networks. To see more of their work visit here. You can donate to their effort here.

Madisons Foundation is a website that connects parents whose children have the same rare disorder. It also raises support for research into rare pediatric disorders.

Cystic Fibrosis

Affecting around 30,000 Americans, Cystic Fibrosis is a genetic disease that primarily affects the lungs and digestive system. A Cystic Fibrosis patient has a defective gene that causes mucus buildup in the lungs making it difficult to breath and in the pancreas which prevents the body from breaking down foods and absorbing nutrients. The median prediction is that a patient will live until their mid-40s, but everyone who has Cystic Fibrosis responds differently, making it hard to tell how long they will live. In 2014 the US Food and Drug Administration approved the first drug that treats the underlying cause of Cystic Fibrosis, but there is currently no cure.

The Cystic Fibrosis Foundation helps educate people about the disease and provides financial support to patients, particularly for the new, expensive drugs. You can find more information and ways to help here.

The National Organization for Rare Disorders (NORD) has a full list of rare diseases in the United States as well as organizations and foundations supporting research and awareness for each disease. Rare Disease Day will be recognized on Feb. 28, 2015. You can find a way to contribute or participate here.