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.

Turkish doctors to fight against thalassemia in Mosul

March 23, 2010

Prof. Dr. Duran Canatan with the Mediterranean Foundation on Hematology has received an invitation from the city of Mosul to fight against thalassemia.

A delegation from the City of Mosul’s Health Department led by Dr. Selahattin Huseyin paid a visit of courtesy to Dr. Duran Canatan on Thursday.

Dr. Hüseyin and Dr. Canatan exchanged viewpoints on methods to fight against thalassemia in Mosul.

The two doctors signed a preliminary protocol, one that will be coordinated by the Governorship of Mosul, to fight against thalassemia.

Dr. Canatan said that Turkey began its struggle against thalassemia in 2003.

“Since then, the number of Turkish patients with thalassemia has decreased by 90 percent,” Dr. Canatan stressed.

Thalassemia is an inherited autosomal recessive blood disease. In thalassemia, the genetic defect results in reduced rate of synthesis of one of the globin chains that make up hemoglobin. Reduced synthesis of one of the globin chains can cause the formation of abnormal hemoglobin molecules, thus causing anemia, the characteristic presenting symptom of the thalassemias.

Courtesy by: todayszaman.com

Thalassemia is a quantitative problem of too few globins synthesized, whereas sickle-cell anemia (a hemoglobinopathy) is a qualitative problem of synthesis of an incorrectly functioning globin. Thalassemias usually result in underproduction of normal globin proteins, often through mutations in regulatory genes. Hemoglobinopathies imply structural abnormalities in the globin proteing themselves. The two conditions may overlap, however, since some conditions which cause abnormalities in globin proteins (hemoglobinopathy) also affect their production (thalassemia). Thus, some thalassemias are hemoglobinopathies, but most are not. Either or both of these conditions may cause anemia.

The disease is particularly prevalent among Mediterranean people, and this geographical association was responsible for its naming: Thalassa, meaning sea and blood in Greek language.

NHLBI, CDC launch surveillance and research program for inherited blood diseases

February 21, 2010

Courtesy by: physorg.com

Medical researchers are developing a new surveillance system to determine the number of patients diagnosed with a family of inherited blood disorders known as hemoglobinopathies, including sickle cell disease, thalassemias, and hemoglobin E disease.

The National Heart, Lung, and Blood Institute (NHLBI) of the National Institutes of Health is funding the four-year pilot project, which will involve the Centers for Disease Control and Prevention and six state health departments, to create ways to learn more about the extent of hemoglobinopathies in the United States.
Data collected from the $27 million Registry and Surveillance System in Hemoglobinopathies (RuSH) project will help researchers determine the most effective plans for developing future hemoglobinopathy registries. Research findings based on data from disease registries may provide new ideas for drug therapies and can spur the development of tests that can determine severity of diseases over the lifespan.

To manage the surveillance efforts, the NHLBI has entered into an interagency agreement with the CDC’s National Center on Birth Defects and Developmental Disabilities. As part of the project, the CDC has developed cooperative agreements to create surveillance programs with state health departments in California, Florida, Georgia, Michigan, North Carolina, and Pennsylvania.

Hemoglobinopathies involve problems with hemoglobin, the vital blood component responsible for transporting oxygen throughout the body. Production of abnormal hemoglobin, which occurs in the family of sickle cell diseases and hemoglobin E, or production of too little hemoglobin, which occurs in the thalassemias, can cause organ damage and shorten lifespan. While all states now test newborns for some of these diseases, there is no system to track the diseases nationally. In addition, patients born before screening programs began or those who have immigrated to the United States are not tracked. These statistical gaps make it difficult to know the true impact of hemoglobinopathies in this country. RuSH will help determine how many people are affected by hemoglobinopathies. Such data are essential for public health agencies to allocate adequate resources to meet the medical and social service needs of hemoglobinopathy patients.

“While we have made great strides in developing treatments for patients with sickle cell disease and other hemoglobinopathies, RuSH stands as the first major surveillance and registry program to gather comprehensive demographic and other information on people with these life-threatening diseases,” said NHLBI Acting Director Susan B. Shurin, M.D., a hematology researcher.

Hemoglobinopathies cause health problems when abnormal hemoglobin genes are inherited from both parents. Individuals who inherit a single abnormal gene, which is called carrying a trait, have few of these health problems.

The hemoglobinopathies are most common in areas where malaria has been endemic. Sickle cell disease is the most common hemoglobinopathy in the United States and the condition affects millions worldwide. Of the estimated 70,000 to 100,000 people in the United States with sickle cell disease, most are thought to have African ancestry, although the gene also occurs among people from the Mediterranean and Middle East. The abnormal hemoglobin molecules of sickle cell disease deform red blood cells, causing them to clump together and block blood flow through blood vessels, leading to painful sickle cell crises, organ damage, anemia (lack of red blood cells), and premature death.

Life-threatening complications include infections, acute chest syndrome, stroke, and pulmonary hypertension (increased blood pressure in the lung arteries). Painful crises are the leading cause of emergency room visits and hospitalizations of people who have sickle cell disease. Life expectancy has increased dramatically with state newborn screening programs and early treatment, which can include daily penicillin treatment for patients age five and younger as well as immunizations for other diseases to prevent complications.

Patients with thalassemia syndromes produce less hemoglobin than normal, and the red blood cells that are produced are rapidly destroyed. Signs and symptoms of thalassemia can include severe anemia; slowed growth and delayed puberty; bone problems; and enlarged spleen, liver, and heart. Severely affected individuals require frequent and repeated blood transfusions and treatments to reduce the accumulation of iron in the body. Thalassemia genes are widespread across the Mediterranean, Middle East, Africa, the Indian subcontinent, and Southeast Asia.

Hemoglobin E diseases are most common among persons with ancestors from Southeast Asia. Affected individuals produce a smaller than normal number of red blood cells. Red blood cells in these individuals are smaller than normal and misshapen. These abnormal red blood cells carry less oxygen to organs. Milder forms of hemoglobin E disease may not need treatment, although affected individuals may have mild anemia. Severe forms of hemoglobin E disease can cause significant anemia, bone pain, and other complications.

Through surveillance under the initial phase of the RuSH pilot program, researchers hope to determine the prevalence of the hemoglobinopathies among screened newborns and patients not identified through newborn screening. The data should help determine the prevalence of the various conditions. The research will also help describe the demographic characteristics of individuals with these conditions as well as their geographic distribution. Researchers will also examine the existing health care resources available for patients with hemoglobinopathies.

“The data gathered through our RuSH surveillance efforts will provide critical knowledge about the current state of care available for patients who have hemoglobinopathies,” said Hani Atrash, M.D., M.P.H, director of the Division of Blood Disorders, National Center on Birth Defects and Developmental Disabilities at the CDC.

Local family on a mission to save son

February 21, 2010

Courtesy by: wggb.com

WEST SPRINGFIELD, Mass. (WGGB) – When you meet Essa Khairi you can’t tell that beneath his playful spirit and infectious laugh, the 11-month-old suffers from a rare genetic disorder with potentially life-threatening complications. He was recently diagnosed with thalassemia major. His body produces dangerously low levels of hemoglobin, depriving his tissues of crucial oxygen.

To maintain his health, Essa is dependent on monthly blood transfusions. While effective, the high levels of iron he receives have potentially dangerous consequences for his heart and liver. The only cure for his condition is a bone marrow or cord blood transplant. Essa’s parents were discouraged to learn that there are very few people of Southeast Asian descent in the National Bone Marrow Registry. It is unlikely they will find a bone marrow donor so the Khairis have decided to proceed with a cord blood transplant.

Dr. Talal Khairi contacted a doctor at Duke University specializing in cord blood transplants. He was advised that while there are potential unrelated donors, Essa’s best chance of a match is a sibling. Essa’s parents are now preparing to have a third child in hopes that the umbilical cord blood will be a match for Essa. If not, they will proceed with looking for an unrelated cord blood donor.

While the Khairis are no longer actively looking for a bone marrow donor for their son, they are still hoping to organize a local bone marrow registry drive. They are calling on people of Southeast Asian descent to come forward and register, so that if someone is in need of a transplant there is a potential match waiting.

Dr. Khairi’s colleagues at Baystate Medical Center in Springfield are helping him organize the drive. Stay tuned for more information.

Thalassemia gene carriers denied government jobs

January 15, 2010

Courtesy by: chinadaily.com.cn

Some 31 applicants were denied government department jobs last year because they are thalassemia gene carriers, officials said. And three of those 31 have filed a lawsuit against Foshan government authorities, alleging discrimination.

“Refusing applicants who are thalassemia gene carriers was in accordance with the country’s relevant regulations, although all have passed written tests and interviews,” said Zhou Jianhua, spokesman for the personnel department of Foshan, Guangdong province.

The Foshan Intermediate People’s Court last week accepted the lawsuit, which is believed to be first of its kind in the country. The court has not yet set a date for the trial.

Under the general physical examination standard of government departments employment issued in 2007, applicants will be denied the job if he or she develops anemia, a condition caused by various mineral and vitamin deficiencies.

However, some experts and lawyers said thalassemia gene carriers should not be regarded as anemia patients.

“Those developing light symptoms of thalassemia are no different from others in work and daily life,” said Li Chunfu, a doctor with the Guangzhou-based Nanfang Hospital.

“Thalassemia gene carriers or those with light symptoms usually do not develop physical signs,” Li said.

“So it is absolutely wrong to deny them job offers. Denying thalassemia gene carriers jobs as government department employees is a kind of discrimination,” Li added.

In Guangdong, one in nine people, or about 12 percent of its population, have developed thalassemia, Li said.

The three applicants’ lawyer, who declined to be named, said each of their hemoglobin levels is higher than 120 g/L, the lowest count in the national standard to diagnose a person with anemia.

“The personnel authority has made a mistake in deciding they are anemia carriers,” the lawyer said.

A disease for life

December 24, 2009

Courtesy by: 7days.ae

Nichola Jones finds out about the dangers of a chronic disease during a visit to a thalassemia centre in Dubai

With a look of intense concent-ration on his face, ten-year-old Ali Sahun is a typical school-boy, desperate to beat the computer in a tense football video game.

But life is not completely normal for the youngster as blood is being pum-ped into his body through a drip attached to him while he plays – a routine he will go through every three weeks for the rest of his life.

“He’s been having them since he was three months old, he’s used to it now,” explains Ali’s mum Naseem. “Sometimes he gets tired and restless a few days before he’s due for the blood but he doesn’t let it affect him.”

Ali was diagnosed with the hered-itary blood disorder thalassemia, which restricts hemoglobin production, when he was a baby and is among the one in 12 people in the UAE either infected by or carrying the disease.

He now attends Al Wasl Hospital’s Thalassemia Outreach Centre – the only of its kind in the Gulf and the first to be opened in the Middle East. It not only offers medical treatment but also vital counselling and support as sufferers come to terms with their situation.

Naseem says: “I am a carrier and after I was pregnant my husband was tested and he was also a carrier so we knew Ali would have it. Sometimes Ali asks why he doesn’t have a brother or sister and we try to explain why – it would have been a big risk.”

It is possible to be a carrier without suffering from the illness but there is a 25 per cent chance of the disease being passed to offspring if both the parents are carriers.

Centre coordinator Dr Essam Dohair says premarital tests for the blood disorder are now compulsory for UAE nationals and expats and that fiancés who ignore medical advice to separate could inflict a lifetime of gruelling treatment, as well as the risk of organ failure and premature death, on their future children.
“Today, I met a couple who are both carriers.

When we are talking about the possible options, we advise them to go their separate ways,” Dohair said. “If it’s an arranged marriage, it is easier because they don’t know each other, there is no love story. We advise them to find another partner who is not a carrier – why not?”

In order to register a marriage in the UAE couples must present a thalassemia screening certificate as part of a nationwide campaign to fight the illness.

Sufferers must have a blood transfusion every three weeks for the rest of their lives and face having a drip inserted into their stomachs for 12 hours every day to counteract rising iron levels in the body. Haemoglobin transports oxygen to the body’s organs but thalassemia sufferers don’t have enough.

If it is not managed properly, the condition can cause excessive bone growth, hormone defects and, ultimately, death.

The only way it can be cured is through a bone marrow transplant or stem cell treatment – neither of which are available in the UAE – and both are extremely expensive.

Dohair says many couples ignore advice to scrap plans to tie the knot and find new partners if they are found to be carrying the chronic disease in a bid to tackle the illness.

“Before they become parents they must know they are carriers so they can avoid having this diseased child,” warned Dohair.

“This is a chronic disease for life, it’s not something that you can ignore.”

Dohair advises people to get screened as early as possible to avoid heartache in the future.

“We have couples who come here for screening a few days before the wedding party.

They have booked the hotel, all the arrangements have been made.

The advice is the same – do not get married. Almost all of them refuse. If a girl is screened earlier, it’s better so she will know before she falls in love.”
The disease is also taking its toll on blood stocks.

Banks are desperate for donations as up to 50 per cent of Dubai’s blood supply is used by thalassemia patients every year.

The centre has 750 patients on its books – 450 of which need regular transfusions, using up to 20,000 units of blood per year.

Dohair said “This is our second problem. We are desperate for blood donations here, not just for these patients but for Dubai in general.”

Lubna’s Story
Media studies student Lubna Iqbal plans to make a documentary about thalassemia to break the taboo of the illness she and her family will live with forever.

The 20-year-old Pakistani says: “I was three months old when they found out I had it. I had a fever and they brought me to hospital, then I was diagnosed. I have three brothers and sisters. I am the fourth child and the one with thalassemia.

“People really need to know more about it – most people have no clue. When I was at school and now at university, people are always asking me about it.

“They are very supportive and I tell them they should be screened.

“When I was 18, I was going to have a bone marrow transplant in Pakistan.

Both of my sisters were exact matches, which was very lucky.

But at the last minute, the doctors and my parents decided it was too big a risk to take, there are too many complications.

“My brother lives in the UK and is married to my cousin and they are both carriers. When his wife was pregnant, they had a test on the baby and found it had thalassemia. They were advised to have an abortion so they did. They now have other children who are fine.

“It’s better to get tested. I would like to have a family one day and as long as my husband is not a carrier, then I can. Thalassemia doesn’t stop you doing the things you want to do.”

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