Over the last year, I’ve watched a community, united in their struggle against a rare disease, fight for understanding. I’ve seen the pain, devastation, and confusion first hand.
I’ve seen people hanging on by a thread.
Meniere’s disease is a big problem, and for those of us who suffer, there are no simple solutions or easy answers. We face a serious lack of scientific understanding coupled with an even greater lack of public awareness.
But there is also hope. As challenging as it is, many of us learn to manage our symptoms, or at the very least, learn to live in harmony with them.
And all the while we hope for a cure. We hope for new research and understanding. We hope for a future free of vertigo and other unwanted limitations.
I am excited to announce that there is incredible research happening right now, and you can get involved. You can be a part of the solution.
A team of researchers at a Canadian pharmaceutical company are taking a novel approach to develop new treatments for Meniere’s disease. And they have the resources, partnerships, and track record to back it up.
Allow me to introduce Xenon Pharmaceuticals and its VP of Clinical Development, Dr. Y. Paul Goldberg.
It’s all about the genes:
Very little is actually understood about the underlying cause of Meniere’s disease.
There are many theories, but at the end of the day, we’re still in the dark. And as a result, most treatment options focus primarily on reducing the symptoms.
At this point, it’s unclear if Meniere’s disease is even a single condition. Some research suggests that it’s possibly a basket diagnosis with multiple underlying causes.
What’s clear, however, is that we need a better understanding, and Xenon hopes to provide one through genetic research.
Dr. Goldberg and his team believe that by finding an underlying genetic cause in certain cases of Meniere’s disease, they may be able to develop targeted new medications that could help the rest of us. And they have a good reason to believe in their approach: it’s worked for them before.
The people who feel no pain:
For most of us, pain is just an unpleasant part of life. For others, pain is chronic, and can quickly make life miserable. But for a very rare few, pain is something that simply doesn’t exist.
Can you imagine what it would be like to live without pain? On the surface, it might sound good, but the reality is quite different, because pain serves a purpose. It’s a signal that something is wrong.
Congenital Indifference to Pain (CIP) is an extremely rare genetic disorder in which a person is incapable of feeling pain. The problem is that while they don’t feel pain, they aren’t invincible. Many sufferers end up breaking bones, burning themselves, as well as a whole host of other terrible injuries without ever noticing.
Knowing this, Dr. Goldberg and the Xenon team had an idea. If they could find the underlying genetic cause of CIP, he might be able to not only help these patients, but possibly create better pain-killing drugs as well.
In todays world, where opiates are over prescribed, often abused, addictive, and potentially dangerous, we could use a better pain killer.
So they got to work, and so far, they’ve had some pretty remarkable results. By studying the genome of CIP patients, and their families, they discovered, along with other groups, that that CIP is caused by a mutation of the SCN9A gene. The very gene responsible for instructing the body to make the proteins necessary to send pain signals through our nerves.
By targeting this gene, Xenon is creating powerful new medications to treat a wide range of conditions, including Erythromelalgia, an overactive form of the same protein. These patients are essentially the opposite of CIP patients. They suffer from an extreme sensitivity to pain.
The bottom line is that their methodology is getting results. And lucky for us, Xenon has now set its sights on Meniere’s disease.
A genetic approach to Meniere’s disease research:
Xenon believes that there are undiscovered genes that cause Meniere’s disease which, if found, could lead to better diagnostic tools, new targeted medications, and possibly even treatments for other vestibular disorders.
But the first step is to gather patient information.
Xenon needs to learn as much as possible about our symptoms and experiences. And to this end, they have created a survey to help identify the patients and families that might be critical to their research.
We can help them make a difference.
Xenon is looking for individuals who meet the following criteria:
- They have been diagnosed with definite Meniere’s disease by a neurotologist or otolaryngologist (Ear, Nose and Throat doctor) AND either
- They had an early age of symptom onset, <35 years of age, OR
- They have living relatives with Meniere’s disease
For the first time, in a long time, we have the opportunity to support Meniere’s disease research in a real and tangible way. We can help them find better treatments.
If you fit the criteria, please take a few minutes to fill out their patient survey by clicking the button below. They need as many people as they can get. For the larger the sample size, the better the results. Once surveyed, some patients will be invited to send in saliva samples for genetic analysis.
But sometimes it’s just one person that makes the difference. Sometimes one individual can bring it all together, and provide the genetic information necessary for a breakthrough.
You could be that person, but they’ll never know if we don’t help.
Together we can support this incredible research effort that may one day lead to the better treatments, or possibly even the cure we all hope for.
Together we can make a difference.
Feel free to contact Emma Leach at Xenon Pharmaceuticals with any questions or for more information concerning the Meniere’s disease research survey at: Research@xenon-pharma.com
Rare disease makes girl unable to feel pain – An NBC news article about a young girl with Congenital indifference to pain.