The last thing I want to share today is this PSA. I hope those of you who aren’t immersed in fragile x syndrome learned something today. My dream is that if someone is affected by fragile x syndrome, the response won’t need to be, “Fragile What?”
One of my favorite posts for today has got to come from the Executive Director of the NFXF. His most recent post is titled, “Love in a Fragile (X) World.” Fragile X Syndrome isn’t all about the shock of a diagnosis, the stress involved with caring for a family member with it, the therapies, the advocating, the fighting for ones rights, etc. It is about one thing and one thing only: love.
The love I have found in the fragile X community is huge. I have made some amazing friends who share my journey.
The love that has strengthened my family is also incredibly strong. When they say that anyone can make a baby but a real parent raises one, they don’t really know what that means until a special needs child is in the mix. Kevin may not be the biological father to my two fragile x syndrome kids but that man has more love and understanding of their needs than their bio dads do.
The students that come into our home each semester to learn about having a special needs child at home leave with such a huge sense of love in their hearts. Being in my kids’ aura kind of puts life into a real honest perspective. People see what is important in life. And that is just from two hours in our house.
I could definitely go on and on but I really would like you to buzz over and read Mr. Miller’s words. They sum up everything that is bursting in my heart about fragile x right now but much more eloquently. 
What are you still doing here…. GO!!
Usually, the first question that I hear after, “Fragile What?”, is “How did you find out?” Our story is a unique one. Mainly because we live in a small area in a state with crummy medical people and we found out abnormally early in Matthews life. The age that most families learn that their child has fragile x syndrome is age 3 or older.
I was a 19 year old, single mom, loving life with my new baby in 1996. I read all the books and devoured magazines on how to get babies through the stages of development. Matthew didn’t respond to any of my attempts. At 6 months old he still didn’t roll over. My family physician gave me the brush off, “Boys tend to develop slower than girls. He’ll get it.” At his 8 month checkup he still hadn’t gotten it. And in essence our doctor fired us. He had no clue how to go about looking for an answer. He seemed so healthy except for this delay. As parting gifts he sent us to a early intervention clinic and a pediatrician.
Our pediatrician was pretty clueless too. But he was more than happy to do what it took to find an answer. He told us that he would call one of his doctor buddies in the big city and get with me on what tests he wanted to run. The phone rang shortly after I got home. He had already set us up with an MRI, vision test, hearing test and chromosome test. A few weeks later, when Matthew was 9 months old, we learned that he had fragile x syndrome. It was Valentine’s Day, 1997. (The chromosome test is highly discouraged now as a means of fragile x testing. It is not very accurate and usually misses it…we got lucky. In 1991 a DNA test, the FMR-1 gene test, was introduced. This is the most accurate test (99+%) for detecting Fragile X.)
My son is not the only one in my family to have it. I was not aware of it when I was pregnant with my son and neither were they. After I learned about Matthew my Aunt Bonnie had her son tested. They learned his disability was not in fact due to her having Rh- blood but fragile x. As time went we traced it all the way back to my paternal great-grandfather Watson. He had given it to all of his daughters and of course none of his sons. He had 7 kids, I think. Four of them were girls. Three of those girls passed it down to some, if not all, of their children. My grandma was in that all stage. She had two boys. My father is a carrier; and though not tested, we are quite sure my uncle has the full mutation.
And this is usually how it works. A severely affected child will emerge and years of passing this gene can come to light. With the latest confirmed numbers being 1 in 260 women being carriers, it can happen to anyone. No one is excluded from fragile x syndrome.
Every six hours I will be posting something new about fragile x in honor of Fragile X Awareness Day. The next thing I would like to share is a great article written by a good friend Mary Beth Langan with a foreword from Sally Nantais. These ladies are so proactive in advocating for fragile x research, awareness, rights, etc. ~FXSmom
Just passing along a column from my good friend Mary Beth written for July 22, Fragile X Awareness Day. If you’d like to learn more about Fragile X I’ve provided links to excellent resources available on the web at the very end of this message.Old prevalence rates list 1 in 259 women and 1 in 800 men as carriers of fragile X syndrome but through new research studies and newborn screening (current research study) we know those numbers are old and inaccurate.In more recent studies female carrier prevalence is estimated as 1 in 130 (in a study in Israel it was 1 in 113).Results from newborn screening in Spain has indicated that what we understand about male carrier prevalence may soon be changing as well. Spain’s results indicated a male carrier prevalence of 1 in 251, a huge drop from 1 in 800. It’s not just the numbers that should grab our attention, it’s what those numbers mean, a male carrier will pass fragile X on to all of his daughters, all of his daughters will be carriers.Please take the time on this day, Fragile X Awareness Day, to learn a little about Fragile X.hugs, SallySuggested websites:
Your Genes Your Health ~ www.ygyh.org - fragile X page
FRAXA Research Foundation ~ www.fraxa.org
The National Fragile X Foundation ~ www.fragilex. org
Suggested videos: If you’re a visual learner
First Down Towards a Cure ~ www.youtube. com/watch? v=BgcQi0bbaJQ
Fragile X – Hitting the mark ~ www.youtube. com/watch? v=-6-J_YcVRi4
In print, layman terms
Time Article – Fragile X: Unraveling Autism’s Secrets
http://www.time. com/time/ magazine/ article/0, 9171,1818268, 00.htmlTime Article – A new approach to correcting autism
http://www.time. com/time/ health/article/ 0,8599,1696451, 00.htmlFXTAS links
Raise the bar on FXTAS: Recognize it
http://www.psychiatrictimes. com/display/ article/10168/ 56271http://www.fragilex .org/html/ fxtas.htm
X-tra Special Advice
BY: Mary Beth Langan and Theodore G. Coutilish
HEADLINE: Familiar Faces… but… Fragile X?Each one of us has the Fragile X (FMR1) gene on our X chromosome.
We all have a number of CGG repeats on that gene.
Some of us have a typical range of repeats on our X.
Some of us have 50 to one-thousand-plus repeats. Those repeats can affect us all in many different ways that may seem unrelated at first glance.
There are those with numbers that fall within a range that deem them a premutation carrier of Fragile X and they may have certain symptoms affecting them on a daily basis throughout their lives or as they age. There are those with the full mutation of Fragile X, who are said to be affected by Fragile X Syndrome.
But what does someone affected by the Fragile X gene look like?
Consider these possible faces of Fragile X:
• a 5-year-old boy with autism and social anxiety
• a 44-year-old woman with an autoimmune disorder such as Lupus, Multiple Sclerosis or Rheumatoid Arthritis
• a 7-year-old girl with selective mutism and a math learning disability
• a 50-year-old woman with near-constant muscle pain
• a 4-year-old boy who is beginning to speak and has severe sensory issues
• an 8-year-old boy with PDD-NOS and a very selective diet
• a 76-year-old man with Alzheimer’s Disease and weakness in his legs
• a 12-year-old boy with autism and a seizure disorder
• a 4-year-old girl with strabismus (an eye muscle issue)
• a 37-year-old woman who is post-menopausal and struggling with anxiety
• an 80-year-old man with Parkinson’s Disease
• a 3-year-old girl who can only verbalize a few words
• a 40-year-old woman who has struggled with infertility for ten years
• an 8-year-old boy who has detailed obsessions, attention issues, is not reading at grade level and wasn’t toilet trained until age 4Mary Lee Shelton of Mesilla, New Mexico says “to this day we are questioned by professionals outside the Fragile X world if we are sure our son has Fragile X. I just know there are more boys like our son! I think it was a lucky break that he was diagnosed correctly. His neurologist was stunned. Fragile X professionals aren’t surprised by his diagnosis because they see so many persons who are affected all over the spectrum. But I think local doctors only see the severely affected and miss many others that should have the blood test.”
Many professionals still use the chromosome analysis to rule out Fragile X. Our Andrew is a perfect example of why that is not the most accurate test — he tested negative with it, yet positive with the less expensive Fragile X test. We’re happy we saw a geneticist who orders the Fragile X test when a diagnosis of autism is being considered. At that point, we were saying “Fragile What?” as we knew nothing of the genetic disorder.
Shelton also shared that “the doctor who diagnosed our son told me he had a professor in medical school who told him when anyone had learning difficulties to always test them for Fragile X. He cited a case of a man who was in the army who was having some kind of problem and this professor had done the Fragile X test on him and it came back positive. Even he was shocked at this, but used it as an example to encourage more Fragile X testing.”
Accurate diagnoses can help with accurate treatment and support. For example, when better treatment for Fragile X Syndrome is soon determined — an actual cure may even be in reach — your child will need an accurate diagnosis for you to have access to such information. If a cure for FXTAS is found, your father or mother or you will need to know they have FXTAS and not a misdiagnosis of Parkinson’s or Alzheimer’s Disease.
We are one year away from 800 family members and professionals coming together in Dearborn, Michigan, for the 12th International Fragile X Conference from July 21-25, 2010.
For that reason — among others — now is a great time for those in Michigan to be tested. The world’s Fragile X gurus will be in your backyard next year. They will be presenting scientific and family-friendly sessions to help those affected by all of the Fragile X-associated Disorders. As you can see, Fragile X has quite a few possible physical and behavioral characteristics and we haven’t even mentioned them all.
Do you see the faces of some of your family in the above list?
Take a good look, in honor of National Fragile X Awareness Day, on July 22.
For more on Fragile X-associated Disorders, including other possible characteristics due to the Fragile X gene, plus accurate testing information to share with your medical professional, visit fragilex.org.
Grosse Pointe residents Theodore G. Coutilish and Mary Beth Langan created this column to share experiences from their journey as parents of a child with Fragile X Syndrome. Send your questions or comments to mblangan@hotmail.com.
Official Press Release:
NIH plan charts course to better treatments and cure for most common known genetic cause of Autism: Fragile X
WALNUT CREEK, CA — Fragile X Syndrome (FXS) research is moving closer to finding a cure with the recent approval by The National Institutes of Health (NIH) of a comprehensive plan created by a group of leading scientists, parents and advocates.
The Congressional Fragile X Caucus is convening a Congressional briefing to highlight the work of the NIH’s Research Plan on Fragile X Syndrome and Associated Disorders and to celebrate National Fragile X Awareness Day in Washington, DC. Leaders of the NIH and Centers for Disease Control & Prevention (CDC), along with leading Fragile X researchers who were instrumental in the development of the plan, will provide insights on the development of the plan, outline key recommendations, and discuss the plan’s future impact on the entire Fragile X research trajectory.
FXS is the most common cause of inherited mental impairment, ranging from learning disabilities to more severe cognitive or intellectual disabilities, and is the most common known, single gene cause of autism or “autistic-like” behaviors. Over the past several years, research programs have made significant advances in the understanding of FXS and the associated disorders of fragile X-associated tremor/ataxia (FXTAS) and fragile X-associated primary ovarian insufficiency (FXPOI).
The report recommends 19 goals and 93 objectives to help shape future research in Fragile X-associated Disorders (FXD). Recommendations range from very basic research to applied policy research. Objectives include studying educational and behavioral interventions, evaluating family support systems, identifying risk factors, and looking at molecular and biological systems.
“Implementing a plan of this scope and depth will be an ongoing process over the next few years,” said Don Bailey, Ph.D., distinguished fellow at RTI International (rti.org) and president of the NFXF Board of Directors. “It will require major funding from federal agencies, bright and dedicated researchers who are willing to focus on Fragile X, sustained advocacy, and financial partnerships, but we can see the light at the end of the tunnel. The National Fragile X Foundation fully endorses this plan, and we pledge to work with the NIH and other key partners to make sure that it becomes a living document that truly shapes future research.”
Visit fragilex.org for a link to the full plan.
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FOR IMMEDIATE RELEASE
Contact: Robert Miller
925-938-9300
RobMiller@fragilex.org
