With Rare Disorders, Misdiagnosis and Desperation Prevail

March 23, 2010

Couresty by: palmbeachpost.com

People diagnosed with cancer have a difficult and scary battle ahead of them, but there’s comfort to be found in the multitude of patient groups, medical associations, research facilities and hospitals dedicated to improving treatment of their disease.

But what if a person suffers from thalassemia, a blood disease that affects hemoglobin? Or cystic fibrosis, a disease that causes mucus to clog the lungs and pancreas? Or jumping Frenchmen of Maine, a disorder that causes an extreme startle reaction to unexpected noises or sights?

These conditions all fall into the category of “orphan diseases” — conditions so rare that they attract little attention and few research dollars. People who have an orphan disease often find themselves misunderstood and misdiagnosed, and with no immediate support available to them.

“We get phone calls from literally desperate people,” said Stefanie Putkowski, a registered nurse and clinical information specialist for the National Organization for Rare Disorders, a nonprofit group dedicated to orphan diseases. “I don’t know if they are hopeless. They are desperate. They can feel very isolated.”

The U.S. Food and Drug Administration categorizes a medical condition as a rare disease if it affects fewer than 200,000 Americans at any given time. There currently are more than 6,000 known rare diseases that affect more than 25 million Americans.

“That’s almost one in 10 Americans,” said Mary Dunkle, vice president of communications for the rare disorders group. “Even though the diseases are rare, when you put them all together, a lot of people are affected.”

People affected by a rare disease all have remarkable tales, their own personal odyssey through a health-care system that cannot figure out what’s wrong with them, Dunkle and Putkowski said.

Putkowski related a conversation she had with a young mother who had spent six years trying to figure out why she was suffering repeated incidents in which she could not catch her breath.

Doctors puzzled over it for years. They prescribed steroids and inhalers, but her symptoms only worsened. Some doctors threw up their hands, said it was all in her head and urged her to see a psychiatrist.

The young woman finally went to one of the nation’s top pulmonary hospitals. After spending 12 days there, doctors figured out that she had Churg-Strauss syndrome, a very severe disease that causes inflammation of the blood vessels. The disease often tricks doctors because it presents as a lung disease when really it’s a vascular condition.

“She was told in another six months she would not have been treatable,” Putkowski said. “She ended up getting a real, true diagnosis. But, by that time, she had lost her job and was living in public housing on public assistance.”

Getting a solid diagnosis is just step one of the ordeal faced by a person with an orphan disease. Because the diseases are so rare, they lack the support groups and national organizations that have formed around more common illnesses. The young woman had called the National Organization for Rare Disorders because she wanted to find out if there were any support groups or treatment grants for Churg-Strauss syndrome, Putkowski said.

Orphan diseases also don’t attract as many research dollars because, by comparison, few people are affected by the diseases. For pharmaceutical companies, there’s less chance for a good return on their investment.

“Very little money goes into these orphan diseases because there’s very little money to be made in the end,” said Pat Girondi, founder of the Orphans Dream Foundation. “The patient base is too low.”

Girondi, a Chicago businessman, founded his nonprofit group to help support research into orphan diseases. His son, Rocco, was diagnosed in 1992 with thalassemia at age 2. Girondi said he spent years taking his son around the world — California, Canada, Italy — looking for treatments for the disease.

Rocco, who is now 19, survives by receiving blood transfusions about twice a month, and his father’s group is funding cutting-edge research into treating thalassemia with stem cells.

His is not an isolated case. Other families of people ill with an orphan disease have also sponsored research into the affliction that’s harming their loved one.

“What we have found … is that one of the main ways these rare disorders get research funding is through the patients themselves,” Putkowski said. “Either the patient or the patient’s family will mobilize themselves. For example, they’ll put donation cans out in local gas stations. We’ve had the most remarkable stories of people who have started just like that and have come a long way in raising research funds.”

Girondi’s foundation and Putkowski’s group both help people find support for their disease and try to direct research funding toward developing treatments and cures for orphan diseases.

Though research into orphan diseases might seem specialized, it holds the potential for paying big dividends toward medical science as a whole. Doctors looking into rare disorders might learn things that would apply to a broader range of people.

Dunkle gave the example of a research team now studying a very rare bone disease. “The more they learn about that disease, it will teach them more about things as simple as fixing a broken arm because they are researching how bone grows,” she said.

A family health story: A dad’s fight to keep his son alive

August 17, 2009

Courtesy by: examiner.com

Meet Pat Girondi, trader, father of three, musician, the founder and CEO of Errant Gene Therapeutics and is on a mission to raise awareness for Orphan’s diseases. His first son, Rocco was given ten years to live back in 1992. He was diagnosed with a rare, genetic blood disorder called, Thalassemia. Thalassemia causes the body to make few red blood cells and less hemoglobin, causing anemia, fatigue and mild cases of Thalassemia can often be overlooked as iron-deficiency anemia. Severe cases such as Pat’s oldest son, needs regular blood transfusions to stay alive. Regular blood transfusions is needed for his son, every 18-22 days.

When Rocco was first diagnosed, he began doing intense experimental medicine. In the US under the regulations he could only continue in the hospital where the researcher was. It was cost prohibitive and impossible, Pat decided to take his family back to Italy where his son could receive proper treatment. He is glad he made the decision. “Italian doctors understand the blood disorder” Girondi says, “it is so rare in Chicago, that maybe 20 people in the entire Chicagoland area have it.” He truly believes they saved his son’s life.

Thalassemia tends to run in those with a Meditarrean heritage, including Italians, Greeks, Middle Easterns, Asians and African decents. He said it is found mostly with those who live on the “ocean.” About 15 percent are carriers. It is an easy and simple blood test that can find the blood disorder.

In 2007, Pat founded the Orphans Dream Foundation, a not for profit organization that supports research in Orphan Diseases. Orphan’s diseases are classified as a disease that receives little or no research funding because they are deemed unprofitable by large pharamceutical companies.

Pat g, Orphan’s HopeIn addition to his work as a trader and biopharmaceutical executive, Girondi is also an accomplished musician. Two of his tracks were recently featured in the Italian film Foccacia Blues and his third album with The Orphan’s Dream Band released Orphan’s Hope this summer. The band exists to raise awareness and funding for the Orphan’s Dream Foundation. All proceeds from album and ticket sales to the band’s events go directly to the organization.

Girondi currently splits his time between Bari, Italy and Chicago.

I had the opportunity to meet and talk with Pat, here are some questions that I asked him.

1) How was your son first diagnosed with Thalassemia? Patients become weak and lethargic because of their hemoglobin, the oxygen carrier in the blood is low. Blood tests showed he was sick.

2) Was it a quick diagnosis or did it take some time and research? We knew within a week from the initial blood test.

3) Were there any significant symptoms that lead you to believe he had this rare blood disorder? Lethargy and fatigue

4) Does anyone else in your family have Thalassemia? It is a genetic disease. Both his mother and I are carriers of the trait. It is mathematical. Each of our children had a 25 percent chance of being born sick.

5) How did you find the time to start the Orphan’s Dream Foundation in 2007? I have always tried to give back for my great luck in life. I am surrounded by people from around the world that have rare diseases. At any given time, I may be working on a half dozen cases. Given my experience in this field, I have a lot of services to offer to people in similiar situations to my own. I only do what I believe is correct. I always try to find the time to do what is correct.

6) Tell me more about the Errant Gene Therapeutics and the new FDA approved experimental treatment? We will soon be in patients…It is a gene therapy and has been in mice and primates. The principal participant researchers are at Sloan Kettering and the research team is made up of dozens of researchers from Singapore to California.

7) Has your son made any dietary and/or supplemental changes to help improve his condition? For example, certain foods can cause anemia. I just wondered if there has been any links to the foods he eats that can exaborate his condition. My son must take medication to get the iron out of his system. The iron comes from transfusions.

8) What can you advise to families who have children with rare health issues? What can they do to get the care and attention they need? People need to confront any major problems with resolve and patience. Every disease is different with different conditions and needs. They must be confronted one by one

We had a delightful conversation about Orphan Diseases, Thalassemia and everything else in between. He gets emails, phone calls and texts at all hours of the days from families looking for a cure, answers or for some help with their given conditions. He said, he pledged to God after his son’s diagnosis he would help other’s find ways to get answers to their condition. As with many parents who have children born of any type of disease, I asked him if his first born son stopped him from having more children. He said absolutely not. In fact, his second son was already born and tested right away. His results came up negative. He and his wife went on to have a third son, who also tested negative. He said children are gifts from God and are rewarding and a pleasure to have. You can tell when he speaks of his children, he really enjoys them. In his voice, they have a strong bond in supporting each other with love and respect. He says at the end of the day, it is about being effective and to help as many people as one possible can. I think Pat is doing exactly that.

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