Men suppose their reason has command over their words;
still it happens that words in return exercise authority on reason. —Francis Bacon
Is this really important? You bet it is. If we can’t agree what the thing is that we’re talking about then we all run the risk of spending more time talking about the talking than actually doing anything about it.
Many years ago there was only something called “fragile X syndrome” (FXS). We all know what that is and it has always been the focus of the National Fragile X Foundation (NFXF). Nothing has changed in that regard except for the very important fact that we all now know much more about what causes FXS and we are on the cusp of very promising new treatments.
Early on we also knew that being a female carrier of the Fragile X genetic mutation could lead to reproductive problems, and we called that “premature ovarian failure” or “POF.” Later, a POF expert at the National Institutes of Health asked us to change the name to “primary ovarian insufficiency” or “POI” to emphasize, among other things, that a woman with POF/POI caused by Fragile X could become pregnant. We made that change, but first attached “Fragile X-associated so that the term is now “FXPOI” or “fragile X-associated primary ovarian insufficiency.”
Then around the year 2000, a late-onset condition affecting primarily male carriers, “fragile X-associated tremor/ataxia syndrome” (FXTAS, pronounced “faxtas”) was discovered and we added that to the list of things that could be caused by the Fragile X mutation.
So now we had three things; FXS, FXPOI and FXTAS. Some of us started using the term “Fragile X” to refer to all three conditions, but that didn’t seem to work since too many people use “Fragile X” as shorthand for “fragile X syndrome.”
So along came the NIH and something called a “Research Plan on Fragile X Syndrome and Associated Disorders” (Informally called the NIH “blueprint.”) Ok, now we’re getting somewhere. The “associated disorders” (FXPOI and FXTAS) are related to fragile X syndrome, in the sense that they share the same genetic basis, so there’s nothing wrong there. But the NFXF decided to take it a step further, on the recommendation of its Scientific and Clinical Advisory Committee, and simply say, “Fragile X-associated Disorders” or “FXD” as a simplified way to cover the whole range of things that we already know are caused by the Fragile X mutation, and things that current research suggests might be caused by the Fragile X mutation. It will also allow for things that could someday be discovered to be caused by the Fragile X mutation.
(Are you confused yet? If you are, don’t feel bad. You’re not alone. In fact, we’re not alone. The autism community has gone through something similar with “autism” and “autism spectrum disorder” or “ASD.”)
Ok, you’re thinking. But he keeps referring to “Fragile X” without anything after the X. So what is that!? Well, let’s be realistic. People will never stop saying “Fragile X.” Some will mean “FXS” some will mean “FXD” and some will simply mean the genetic mutation on the X chromosome whether or not it causes a disorder or any symptoms. We won’t be able to control that. But at least, when writing about or presenting on the subject we’ll all have an agreed upon touchstone.
These things take time. There’s no promise that everyone will get on board with this new wording. But the NFXF believes that it is time to move on and focus on the many challenges before us. If we’re successful, at least we won’t have to waste time trying to clarify what it is we’re talking about.
Friday, April 24, 2009
Tuesday, December 16, 2008
You're Not Alone
Since The National Fragile X Foundation came into existence nearly 25 years ago, one of its core goals has been to assure that families impacted by Fragile X would not be alone:
• Alone with the fear that can come with having a child diagnosed with a serious condition.
• Alone with the anxiety and uncertainty about what to do next.
• Alone with the fear that they have no one to assist them on the journey ahead.
• Alone with the worries about what the future might hold.
As we begin our 25th year, we are re-dedicating ourselves to ensuring that no family, at any time, need ever be alone.
• Our toll-free telephone support and our email support (Treatment@FragileX.org) continue unabated.
• Nearly 1,500 people have signed on as members of our Message Boards (linked to our website home page), and we are taking steps to make them even more user-friendly and informative.
• Other plans are underway to better connect families though our resource groups and parent contact networks.
• And of course, we can’t talk about bringing people together without mentioning our international conferences.
If there is one consistent theme that has emerged from our 11 conferences thus far it is that being with other families in a supportive environment has a value that far surpasses the rich and varied content of the conference programming. Face-to-face contact and the sense of comfort, solidarity and information gathering that flows from encounters with other parents just can’t be beat. Parents who come to our conferences overwhelmingly tell us that the experience changes their lives, that it gives them a million useful tips, tons of perspective, and perhaps most important of all, the profound comfort of knowing that indeed, they are not alone, that others have trod this Fragile X path and come out not only whole, but immeasurably enriched. While the NFXF has begun a process to ensure that the conference content is and remains of the highest quality and up-to-date as possible, we will never forget that it is the human element that people remember and talk about—even 20 years later.
Progress Report
What an exciting year it has been for Fragile X! And no surprise, you can expect much more of the same in 2009. In light of the fact that my next column will be in 2009, I want to wish you a wonderful New Year, full of growth and strength and humor to overcome the challenges facing you. I also want to thank you for helping make the NFXF not only what it is today, but what it continues to become with each day of new developments in research and connectivity and support. Progress! Here are just a few highlights:
• Research is advancing rapidly and the promise of powerful new treatments is real. The NFXF-initiated Fragile X Clinical & Research Consortium will be in the forefront of seeing that the necessary studies take place, in the shortest time possible, and that as new treatments are proven safe and effective, they benefit ALL families.
• The push for newborn screening is gaining traction and will increasingly inform us about how to provide treatment and services to very young children.
• The largest-ever survey of families impacted by Fragile X is beginning to pay dividends in our understanding of the specific challenges facing them.
• Adults with fragile X syndrome and other intellectual disabilities will increasingly benefit from the work of the NFXF-founded Collaboration to Promote Self-Determination.
Yes, even heading into our 25th year, it feels ever and again as if our work has just begun. Please help The National Fragile X Foundation ensure that every family benefits from the progress we are making on so many different fronts. You can do so by giving to the NFXF Annual Fund. (The appeal should be arriving in your mailbox soon if it hasn’t already—or else just use the remit envelope tucked into this issue of your journal.) Your entire donation is tax-deductible, and please never hesitate to contact me to talk about how your gift will be used. The benefits to all parties of your involvement and contributions to our foundation is a subject I never grow tired of discussing.
• Alone with the fear that can come with having a child diagnosed with a serious condition.
• Alone with the anxiety and uncertainty about what to do next.
• Alone with the fear that they have no one to assist them on the journey ahead.
• Alone with the worries about what the future might hold.
As we begin our 25th year, we are re-dedicating ourselves to ensuring that no family, at any time, need ever be alone.
• Our toll-free telephone support and our email support (Treatment@FragileX.org) continue unabated.
• Nearly 1,500 people have signed on as members of our Message Boards (linked to our website home page), and we are taking steps to make them even more user-friendly and informative.
• Other plans are underway to better connect families though our resource groups and parent contact networks.
• And of course, we can’t talk about bringing people together without mentioning our international conferences.
If there is one consistent theme that has emerged from our 11 conferences thus far it is that being with other families in a supportive environment has a value that far surpasses the rich and varied content of the conference programming. Face-to-face contact and the sense of comfort, solidarity and information gathering that flows from encounters with other parents just can’t be beat. Parents who come to our conferences overwhelmingly tell us that the experience changes their lives, that it gives them a million useful tips, tons of perspective, and perhaps most important of all, the profound comfort of knowing that indeed, they are not alone, that others have trod this Fragile X path and come out not only whole, but immeasurably enriched. While the NFXF has begun a process to ensure that the conference content is and remains of the highest quality and up-to-date as possible, we will never forget that it is the human element that people remember and talk about—even 20 years later.
Progress Report
What an exciting year it has been for Fragile X! And no surprise, you can expect much more of the same in 2009. In light of the fact that my next column will be in 2009, I want to wish you a wonderful New Year, full of growth and strength and humor to overcome the challenges facing you. I also want to thank you for helping make the NFXF not only what it is today, but what it continues to become with each day of new developments in research and connectivity and support. Progress! Here are just a few highlights:
• Research is advancing rapidly and the promise of powerful new treatments is real. The NFXF-initiated Fragile X Clinical & Research Consortium will be in the forefront of seeing that the necessary studies take place, in the shortest time possible, and that as new treatments are proven safe and effective, they benefit ALL families.
• The push for newborn screening is gaining traction and will increasingly inform us about how to provide treatment and services to very young children.
• The largest-ever survey of families impacted by Fragile X is beginning to pay dividends in our understanding of the specific challenges facing them.
• Adults with fragile X syndrome and other intellectual disabilities will increasingly benefit from the work of the NFXF-founded Collaboration to Promote Self-Determination.
Yes, even heading into our 25th year, it feels ever and again as if our work has just begun. Please help The National Fragile X Foundation ensure that every family benefits from the progress we are making on so many different fronts. You can do so by giving to the NFXF Annual Fund. (The appeal should be arriving in your mailbox soon if it hasn’t already—or else just use the remit envelope tucked into this issue of your journal.) Your entire donation is tax-deductible, and please never hesitate to contact me to talk about how your gift will be used. The benefits to all parties of your involvement and contributions to our foundation is a subject I never grow tired of discussing.
Wednesday, September 24, 2008
Your Foundation, Your Professionals,Your Clinics Consortium
Let’s be clear about something; The purpose of national foundations like the NFXF, of governmental organizations like the National Institutes for Health, the Centers for Disease Control or publicly funded university medical centers, or private institutions like some universities, is to serve the people; In our case, the people in the Fragile X community. In most cases, don’t forget, that service is supported by your tax and/or charitable contribution dollars. So let me say a bit about why, in most cases, I think your hard-earned dollars are being wisely spent by the NFXF.
Your Foundation
We listen. Each and every day the staff at the NFXF hears from parents all over the world, and each and every day we come to work determined to ease the journey that those parents are undertaking. Whether that means more and better support services, increased research or something else entirely is a question that I, my staff, and the volunteer board of directors continuously grapple with. But the board (the great majority of whom are parents of children with fragile X syndrome), recognizing that the voice of the Fragile X community needs to be always expanding, recently voted into place new rules that will result in new names being added to the roster of board members and some familiar names perhaps disappearing (and perhaps reappearing in other voluntary roles at the NFXF). With these changes, new viewpoints will be added to the mix of voices debating how we can best serve you.
Your Professionals
I’d like to say a word about the many dedicated professionals that I have the pleasure of working with in my role at the NFXF.
Sometimes I wonder if families fully understand the degree to which professionals throughout the world are focused on Fragile X, and how committed they are to improving treatment for all Fragile X conditions. Our 11th International Fragile X Conference in St. Louis will provide one opportunity for parents to see that, but not all families are able to attend the conference. So I thought I would take a moment to share my experience with you.
Over the past nine years I have had the opportunity to attend dozens of meetings with people who have more initials following their names than I have in my full name. Without exception, what I notice is their drive to understand, describe, study and treat Fragile X in the broadest sense. Our cover story in this issue, highlighting the latest in research related to treatment, describes the progress being made by just some of those tireless professionals. Recently, I had the pleasure of helping organize and/or attend a number of meetings in which many of the nation’s leading Fragile X researchers and clinicians have been in attendance. The first was the meeting of the Fragile X Clinic’s Consortium (FXCRC). The second was the National Institute of Health’s Trans-NIH Research Coordinating Committee and the Outcome Measures for Clinical Trials with Children with FXS. (I was an invited guest and was asked to speak about the FXCRC.) I have also had a number of opportunities to work with staff from the Centers for Disease Control. These are rather important groups, comprised of rather important people. But without exception, these meetings are attended by people who aren’t impressed by the number of letters after their name, and aren’t concerned whether anyone else is impressed either. What they are concerned with—deeply and without reservation—is how to best help families in the shortest amount of time.
Your Fragile X Clinical & Research Consortium
The NFXF’s fourth meeting of the Fragile X Clinics Consortium, recently renamed the Fragile X Clinical & Research Consortium, illustrates the point above. The meeting was held in Atlanta in March, with the next scheduled for the International Fragile X Conference in July. Once again, there was 100 percent attendance by all 14 existing clinics plus four potential clinics that also sent representatives.
In a process called “translational research,” the NIH is working to shorten the time between when a discovery is made in the lab and a treatment reaches the person who needs it the most. That’s where our foundation’s FXCRC comes into play: Working with the NIH, the CDC and many others, we are playing a key role in making sure that all Americans, whether they are rich or poor, live in a city or in the countryside, whatever their ethnicity or native language, and whether they have insurance or not, will benefit from the latest and greatest in treatments. The FXCRC is your NFXF’s effort to not only bring evaluation and treatment by qualified Fragile X professionals to all families in the U.S., but to speed up the process by which new evidence-based treatments and interventions are introduced. Many of you have heard me say this before, but I think it bears repeating:
What good will better treatments for Fragile X be if:
• There is no system in place to test the safety and proper implementation of those treatments?
• Those affected by Fragile X have no access to medical care or, better yet, to care from qualified Fragile X professionals, i.e. the doctors, therapists, educators and others who have experience with the condition and are thus absolutely essential to maximizing the benefits of the latest research and treatment?
- One doesn’t even know that one has a Fragile X condition or is a carrier?
Think about it. This is the job before us. Take care of your family and look out for your (Fragile X) neighbors. We’re all in this—this foundation, this large and extended Fragile X family—together.
Your Foundation
We listen. Each and every day the staff at the NFXF hears from parents all over the world, and each and every day we come to work determined to ease the journey that those parents are undertaking. Whether that means more and better support services, increased research or something else entirely is a question that I, my staff, and the volunteer board of directors continuously grapple with. But the board (the great majority of whom are parents of children with fragile X syndrome), recognizing that the voice of the Fragile X community needs to be always expanding, recently voted into place new rules that will result in new names being added to the roster of board members and some familiar names perhaps disappearing (and perhaps reappearing in other voluntary roles at the NFXF). With these changes, new viewpoints will be added to the mix of voices debating how we can best serve you.
Your Professionals
I’d like to say a word about the many dedicated professionals that I have the pleasure of working with in my role at the NFXF.
Sometimes I wonder if families fully understand the degree to which professionals throughout the world are focused on Fragile X, and how committed they are to improving treatment for all Fragile X conditions. Our 11th International Fragile X Conference in St. Louis will provide one opportunity for parents to see that, but not all families are able to attend the conference. So I thought I would take a moment to share my experience with you.
Over the past nine years I have had the opportunity to attend dozens of meetings with people who have more initials following their names than I have in my full name. Without exception, what I notice is their drive to understand, describe, study and treat Fragile X in the broadest sense. Our cover story in this issue, highlighting the latest in research related to treatment, describes the progress being made by just some of those tireless professionals. Recently, I had the pleasure of helping organize and/or attend a number of meetings in which many of the nation’s leading Fragile X researchers and clinicians have been in attendance. The first was the meeting of the Fragile X Clinic’s Consortium (FXCRC). The second was the National Institute of Health’s Trans-NIH Research Coordinating Committee and the Outcome Measures for Clinical Trials with Children with FXS. (I was an invited guest and was asked to speak about the FXCRC.) I have also had a number of opportunities to work with staff from the Centers for Disease Control. These are rather important groups, comprised of rather important people. But without exception, these meetings are attended by people who aren’t impressed by the number of letters after their name, and aren’t concerned whether anyone else is impressed either. What they are concerned with—deeply and without reservation—is how to best help families in the shortest amount of time.
Your Fragile X Clinical & Research Consortium
The NFXF’s fourth meeting of the Fragile X Clinics Consortium, recently renamed the Fragile X Clinical & Research Consortium, illustrates the point above. The meeting was held in Atlanta in March, with the next scheduled for the International Fragile X Conference in July. Once again, there was 100 percent attendance by all 14 existing clinics plus four potential clinics that also sent representatives.
In a process called “translational research,” the NIH is working to shorten the time between when a discovery is made in the lab and a treatment reaches the person who needs it the most. That’s where our foundation’s FXCRC comes into play: Working with the NIH, the CDC and many others, we are playing a key role in making sure that all Americans, whether they are rich or poor, live in a city or in the countryside, whatever their ethnicity or native language, and whether they have insurance or not, will benefit from the latest and greatest in treatments. The FXCRC is your NFXF’s effort to not only bring evaluation and treatment by qualified Fragile X professionals to all families in the U.S., but to speed up the process by which new evidence-based treatments and interventions are introduced. Many of you have heard me say this before, but I think it bears repeating:
What good will better treatments for Fragile X be if:
• There is no system in place to test the safety and proper implementation of those treatments?
• Those affected by Fragile X have no access to medical care or, better yet, to care from qualified Fragile X professionals, i.e. the doctors, therapists, educators and others who have experience with the condition and are thus absolutely essential to maximizing the benefits of the latest research and treatment?
- One doesn’t even know that one has a Fragile X condition or is a carrier?
Think about it. This is the job before us. Take care of your family and look out for your (Fragile X) neighbors. We’re all in this—this foundation, this large and extended Fragile X family—together.
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