What is a Rare Disease?

What is a Rare Disease?
February 5, 2016 Our Circle of Moms
In Health, Sue Anganes

 By: Sue Anganes


Rare Disease Day takes place every year on the last day of February. This year it will take place on February 29, 2016.

In the U.S., any disease affecting fewer than 200,000 people is considered rare. There are nearly 7,000 rare diseases affecting nearly 30 million Americans. In other words, almost one in ten Americans are suffering from rare diseases. Besides dealing with their specific medical problems, people with rare diseases struggle to get a proper diagnosis, find information, and get treatment. The rarity of their conditions makes medical research more difficult.

Rare Disease Day is always the last day in February. This year it falls on February 29, which is also Leap-Year! I have a very personal interest in the day because my two youngest sons have a rare disease. None of the specialists in the Boston hospitals could figure out what was wrong with them. They had seen over fourteen without an answer. They didn’t match the symptoms of anyone else the doctors had ever seen. For ten years we had no idea what was wrong with them. Finally, in 2013, we were able to have them evaluated at the National Institutes of Health in Bethesda, Maryland. The NIH is our government’s research hospital. The boys were accepted into the Undiagnosed Diseases Program there. We were flown down to Maryland by the NIH and both boys were admitted to the hospital for a week. They were enrolled in a research study along with the six other members of our family. We all had blood samples taken for genetic testing and had to sign waivers allowing our samples to be used for research now, and in the future if needed. During the week’s stay both boys underwent more tests than most anyone would go through in a year. They had; bone scans, skin biopsies, x-rays, MRIs, MRSs, spinal taps, CT scans, eye exams, EMGs, PFTs, EKGs, echo cardiograms, and neuropsychology exams. They saw ophthalmology, otolaryngology, pulmonology, neurology, cardiology, endocrinology, anesthesiology, dermatology, pain and palliative care, physical therapy, occupational therapy, speech therapy, and physiatry. This was all in a week!

The boys were extremely cooperative. They knew that this was the greatest chance they would ever have at finding a diagnosis. Many of the tests were uncomfortable. One son had a scary reaction to being under anesthesia. The other son had complications from the spinal tap. It was very hard. We had to actually stay an extra day because of the complications. We all were exhausted when we flew back home to Massachusetts. We were told when we left the NIH that it was possible that we would never get an answer to the boys’ medical issues; we could possibly know something in weeks or months, or it could also be the case that we would not have an answer for years. Nevertheless, we were hopeful. We now had the brightest minds of the world in neurological research working to find an answer for our boys.

A little over two weeks after we arrived home we received a phone call. “We think we know what is wrong with the boys!”.  From the spinal tap they had discovered that the boys have an extremely rare neurotransmitter disease- so rare that, to this date, there is no one else in the world that is known to have the same disease with the same symptoms. We were flown back down to the NIH for a trial of medication. We were so very hopeful that this would be the “cure”- the answer that would allow the boys to live a ”normal” life.  Unfortunately, as most with rare diseases, treatments are experimental at best, and often there is no treatment at all. The trial of medicine that the boys had did not work as expected. It did not help them at all.

We are now over two years since our visit to the NIH. They are still working on answers for the boys. We are awaiting a whole exome sequencing test which my help us identify what the gene mutation of their disease is. Nothing is simple or easy with a rare disease, however, we feel so extremely fortunate to have the resources that we have here in our country, and we are hopeful with the advancement of medical technology that someday we will have a treatment or a cure.

For more information on the NIH’s Undiagnosed Diseases Program: http://www.genome.gov/27544402

For more information on Rare Disease Day and to see their official video: http://www.rarediseaseday.us/




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