An international organization which champions research for often overlooked medical conditions, has set aside Feb. 29 as Rare Disease Day and one Alameda family wants to help them spread the word.
Izzy Penston, an 11-year-old student and her Alameda parents, Zoe and George Penston, are coming forward to share her story with the community in hopes more attention will be given to her rare, debilitating and life-shortening disease.
Izzy was diagnosed with Friedreich's Ataxia, a progressive neuromuscular disease, in 2010.
Since then she has been forced to sometimes use a wheelchair and scooter to conserve her energy, her speech has been affected, she has been diagnosed with a heart condition, and her vision has become somewhat impaired.
Friedreich's Ataxia has been recognized since the 1800's but the gene for it was only identified in 1998, the same year a test for it was developed.
According to her mother, Zoe Penston, about one in 50,000 people get the disease and there are currently only approximately 6,000 people living with it in the United States.
The progression of Izzy's disease
Zoe said Izzy develped normally until around the age of five, when she began to walk up on her toes and exhibited some clumsiness. Tests were done and an abnormality was found on her spinal cord. When she was in kindergarten she had surgery on her back, underwent physical therapy, and wore braces on her legs.
"We thought that had taken care of things, but we were wrong," said her mother.
In second grade she developed scoliosis, but neurologists treating her felt it was unlikely she had a more serious progressive disease.
By third grade she was diagnosed with a heart murmur and was referred to a cardiologist who was the first to suspect Friedreich's Ataxia. Tests confirmed the diagnosis and the Penstons began their personal quest to learn all they could about the disease and work to fund research on it.
Support for families and focus on research
They now actively support the Friedreich's Ataxia Research Alliance (FARA) and joined an international online support group for families of children who have the disease.
"Being part of the online support community has been a lifesaver for me," said Zoe, "I will email a question about something and within minutes I will get a response from other families who have already been through the same thing."
The financial toll on the family, which also includes a son, Owen, 7, has been bearable, but a challenge, said her mother. The family has private insurance with a $6,000 deductible, which they have reached every year for the past five years, she said.
Izzy's father, George, is a vice president of product design and Zoe stays home to be with her daughter. "I really don't think I would be able to work outside the home," said Zoe, "given the number of days Izzy isn't feeling well and comes home early from school."
She said Edison has been wonderful about accommodating Izzy's needs, even providing her with a cot to rest at lunch if she needs. All the same, Izzy is easily tired and comes home from school and has to lie down to rest.
"It is an energy-zapping disease," said Zoe.
Looking past her disease and enjoying adolescence
Despite all of her medical issues Izzy is a typical 11-year-old. She is looking forward to starting Lincoln Middle School next fall and is doing well at school.
She is a Girl Scout and likes acting, loves to draw, is a budding bird watcher and has many friends. She is on a waiting list to enter a therapeutic horseback riding program and says she might even like to try snorkeling some time.
Making videos is also one of her passions. You can see an adorable You Tube clip about her fundraising effort for FARA.
Future monitoring of her condition
Izzy's condition has to be closely monitored by her doctors. Every six months she must have an echocardiogram and annually has to wear a halter device that monitors her heart. She may also face future surgery for her scoliosis.
Ten percent of all children who develop the disease also will develop diabetes, so she will be checked for that as well.
"Every case is different," said her mother, "so it is hard to predict the course of the disease for any one individual. We have every hope she'll go off to college and want to help her achieve her dreams."
Fundraising efforts to pay for research
The family also says it believes strides will be made in the understanding and treatment of the disease as more research on it is undertaken. To that end, the Penstons will once again be taking part this year in Ride Ataxia.
The fundraising bike ride will take place May 5 in Davis, and will include 15-, 30- and 50-mile flat routes, plus 55- and 68-mile hilly cycling routes on scenic country roads.
Ride Ataxia cycling events across the country have funded over $1 million in research grants in just five years.
George Penston will ride in this year's race and the rest of the family will help staff a rest station along the route.
There are many ways the public can help the family raise money before and during this event. You can go here to find out about "Team Izzy".
Last year a group of Edison School fathers who are in bands to raise money for research on Friedreich's Ataxia in Izzy's honor. Another concert like it will probably be held again this summer.
"We take any opportunity we can find to spread the word about this disease and lobby for research into it," said Zoe, "and Rare Disease Day seemed the perfect chance to shed light on it again."