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February 25th, 2016

Giving Voice to Those with Rare Diseases

By Jeff Briggs
Top left, Dustin Bennett; far right, Eileen Braun and her daughter Kaitin, who has Angelman syndrome; center bottom, Stacy Carlson (right) and her family; bottom left, Javrie Burdell.  The Center for Individualized Medicine salutes and supports all who have a rare disease — every day of the year.

Top left, Dustin Bennett; far right, Eileen Braun and her daughter Kaitin, who has Angelman syndrome; center bottom, Stacy Carlson (right) and her family; bottom left, Javrie Burdell. The Center for Individualized Medicine salutes and supports all who have a rare disease — every day of the year.

Join us in supporting Rare Disease Day on February 29

The news can hit like a tsunami, bringing devastation and grief when parents realize all the hopes and dreams they have for a child have been replaced by the words, “rare disease.” The news can also bring relief, the end of a diagnostic odyssey that spans years, even decades, in searching for an answer.

Too often people with rare diseases live in silence, struggling to make sense of a world that has often left them with no effective cure, dealing with frustration and often humiliation from people who don’t understand. Too often parents feel alone in their attempts to ease the pain endured by a child diagnosed with a rare disease, scared of the results from the next CAT scan, angry when the doctor doesn’t have an answer, agonized at the loss of the person their child will never become.

February 29, the rarest day of all, is a chance for all their voices to be heard.

Rare Disease Day, held on the last day of February each year, is an annual observance to raise awareness with the public and policy makers about rare diseases, the challenges encountered by those affected, the importance of research to develop diagnostics and treatments, and the impact of these diseases on the lives of patients and their families.

Watch the inspiring story of Elisa, an 18-year-old from Treviso, Italy, who is living with Williams syndrome, a rare disease that affects around 1 in 20,000 births. Video courtesy of Rare Disease Day.

Watch the inspiring story of Elisa, an 18-year-old from Treviso, Italy, who is living with Williams syndrome, a rare disease that affects around 1 in 20,000 births. Video courtesy of Rare Disease Day.

At Mayo Clinic and the Center for Individualized Medicine, we applaud this effort to highlight rare diseases and want to lend our voice in supporting efforts to finding cures, better treatments and faster diagnoses. We also like to think every day here is Rare Disease Day.

With advancements in genome sequencing more patients are finding their answers to the diagnostic dilemma of rare diseases. Some are finding lifesaving treatments. Others, like Dustin Bennett, regain the chance to live a normal life. For some, like Stacy Carlson, it’s about finally getting an answer to a decades-long quest.

Even when there is no cure, we search for ways to improve treatment and quality of life. In November, Mayo Clinic assembled a team of specialists and opened the Angelman Syndrome Clinic to treat children with this rare affliction.

And really, rare diseases, cumulatively, aren’t so rare. A rare disease is defined as any condition affecting fewer than 200,000 patients in the United States. More than 7,000 such diseases are currently known, afflicting more than 30 million Americans. They cover a broad diversity of disorders and symptoms that vary not only from disease to disease but also from patient to patient suffering from the same disease.

Thirty million people in the U.S. alone, more worldwide. Think about that for a moment: 30 million. One out of 10 people living in the U.S. has a rare disease. Chances are you know one of them. You’ve held them in your arms, opened a door when they struggled in their wheelchair, looked aside when they moved oddly or slurred their words.

Why is it important for us to raise our voices for those with a rare disease? Because many of them can’t. About 50 percent of the people affected by rare diseases are children. Nearly a third of them won’t live to see their fifth birthday.

Rare diseases range from cystic fibrosis and hemophilia to Angelman Syndrome, each with an incidence rate of about 1 in 15,000. Opitz trigonocephaly syndrome, which is extremely rare, afflicts about one person in a million. Relatively common symptoms can hide underlying rare diseases leading to misdiagnosis and delaying treatment. A rare disease is often disabling, and the person’s quality of life is affected by chronic, progressive, degenerative, and frequently life-threatening aspects of an individual disease.

It is thought that at least 80 percent of rare diseases are genetic in origin, which is why it’s part of the daily fabric here at the Center for Individualized Medicine. Individualized medicine, also known as personalized medicine or precision medicine, means tailoring diagnosis and treatment to each patient to optimize care.

The genomic diagnoses for rare diseases highlight the importance of personalized medicine.

There are many known genetic and chromosomal disorders, of varying magnitude. Some are apparent at, or even before, birth — especially if they involve significant physical abnormalities; others become apparent only over time. For many patients, however, the journey to a diagnosis is long or even fruitless: finding what may be as small as a single base change in the genetic code of a three-billion base pair human genome is arguably harder for scientists than finding the proverbial needle in a haystack. It is only through recent advances in next generation sequencing that it is possible at all. But we keep looking for answers.

Rare Disease Day logoLife with a rare disease can be a lonely experience. There aren’t the same resources available to these people, or an awareness of the difficulties they face. Many people with rare diseases strive to overcome almost impossible obstacles to show us just how much can be accomplished despite limitations and a world that doesn’t understand them.

The search for answers, cures, treatments and options for rare diseases is accelerating thanks, in part, to modern medical technology. Although rare disease patients and their families face many challenges, enormous progress is being made every day. But the fact remains, there are often no existing effective cures to offer people with rare diseases.

The Center for Individualized Medicine wants to change that. We want to offer hope to those for whom hope is terribly hard to come by. We want to inspire them the way they have inspired us with their determination, hard work and resiliency in the face of living with a rare disease. We want to give a voice to those who are silent.

Find out how you can get involved in Rare Disease Day!

 

 

Tags: Angelman syndrome, center for individualized medicine, Dustin Bennett, genomic medicine, individualized medicine, mayo clinic, personalized medicine, Precision Medicine, rare disease, Rare Disease Day, Stacy Carlson, Uncategorized

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