Prevalence and Autism

New Research findings were released earlier today from the Fragile X Conference including updated prevalence numbers as well as linking the Fragile X protein (FMRP1) to Autism. I don't even know what to say other than these numbers made my heart stop.  On one hand, higher prevalence means higher exposure - which certainly leads to more funding for research.  On the other hand, this isn't something I would ever want more people to have to live with.  Here's the excerpts from the NFXF Twitter / FB feed.

From an unbiased based population study of 7,000 people to estimate the prevalence of Fragile X is now 1 in 151 females and 1 in 468 males.  With this study there was signification elevation of symptoms of FXTAS and FXPOI in this study.  That information was from Dr. Masha Mailick Seltzer, PhD, Director, University of Wisconsin Waisman Center

A second study showed prevalence results of 1 in 209 female and 1 in 401 males.  This study was conducted by Flora Tassone, PhD, Research Biochemist, UC Davis MIND Institute, University of California

The previous numbers were 1 in 260 females and 1 in 800 males.

Anywhere from 2-6% of children with Autism will have FragileX Syndrome.  There is a very close relationship between FragileX and Autism at the molecular level.

Read the full press release here:

Read More...

I Am One.

I am one.
One in 260.

One in 260 women are carriers of the Fragile X Premutation.  To put that a bit in perspective...the average Facebook user has 245 friends.   So, there is a very high chance someone you are friends with on Facebook is a Fragile X carrier.

But have you ever heard of it?  
Approximately one-million Americans carry the Fragile X mutation, including approximately 100,000 with Fragile X Syndrome and are at risk for developing a Fragile X-associated Disorder.

Could that one be you?
Approximately 1 in 260 females and 1 in 800 males are carriers of the Fragile X Premutation.  Many of those carriers go undiagnosed until they have a child, niece, or nephew with a full mutation.

Has one of your grandparents or parents been diagnosed with Parkinson's?

Studies report that approximately 1/3 (33%) of all men over 50 years of age and 5%-8% of women with the Fragile X premutation will develop symptoms of FXTAS. 

Do you or any of your female relatives have fertility issues?

Approximately 20-25% of women with an FMR1 premutation will develop FXPOI. FXPOI covers a range of ovarian difficulties including early menopause, irregular menstrual cycles, infertility, sub fertility and premature ovarian failure (cessation of menstrual periods prior to age 40)

Is there a prevalence of fibromyalsia or auto-immune disorders in your family?New research is showing the prevalence of Auto-Immune disorders such as hypothyroidism and fibromyalsia in Fragile X premutation carriers.

Have one or more people in your family been diagnosed with Autism?

Fragile X Syndrome is the most common known genetic (“single gene”) cause of autism.  Autism affects 1 in 88 children and around 2-6% of those affected have Fragile X as well.

Awareness is such an important thing with Fragile X because it isn't just something that affects you - it is genetic and passed from father to daughter, mother to child.  As it's name suggests - it travels on the X chromosome and may not develop into a full blown mutation for generations.  Today, July 22, is National Fragile X Awareness Day - a perfect day to share or learn more about Fragile X.

To learn more - visit the National Fragile X Foundation, FRAXA, or the CDC.

Read More...

Awareness Day: 2012

July 22 is a day that is very special to me for a couple of reasons. First, it's my anniversary, and each year with Mr Awesome is certainly a reason to celebrate!! Second, it is also National Fragile X Awareness Day. For those that are paying attention...you will know that Fragile X Syndrome is a genetic disorder that I am a carrier of and two of my kids (as well as countless number of other family members) are affected by.

To help raise awareness, the National Fragile X Foundation has put together a Facebook event for this day.I would more than appreciate your support and help raising awareness if you could go to the event and "attend". By simply attending and having the event cross your newsfeed you may be reaching even just one person who has never heard of Fragile X before. Awareness is so very important to this disorder that is among other things the #1 known genetic cause of Autism yet so many people have never even heard of it! Thank you so much to all of you who take the few minutes to do this - remember, just ONE person can make a difference and today that person could be you.

Here is a link to the public event on Facebook:  http://www.facebook.com/events/122412367896486/

Read More...

About FXPOI

I am working on putting together brief overviews about the different Fragile X Associated Disorders - and this is the second (behind the Fragile X Syndrome page I have up).  You can find this post as well under the tab at the top labeled FXPOI.  Much of this is simplified to make it easier to understand, and while I got my information from Fragile X websites - it should not be taken as medical advice.

Fragile X Associated Primary Ovarian Insufficiency, or FXPOI is a condition in which the ovaries stop functioning normally in a woman younger than age 40. Common symptoms of POI include absent or irregular periods and infertility.  POI is not menopause.  Women with FXPOI may develop symptoms similar to those of menopause such as hot flashes and vaginal dryness, but it differs from menopause in some important ways.

• Women with POI are still able to get pregnant in some cases because their ovaries may release viable eggs now and then.
• Women with POI can experience a return of menstrual periods
• Some women will become pregnant years after an initial diagnosis.

Approximately 20%-28% of women that are carriers of FXS experience FXPOI and another 23% experience early menopause.  That means that as a carrier, you have about a 50% chance of menopause occurring before age 45.

ALL women that are carriers of FXS have some decrease in ovarian function (decreased fertility), and some are at risk for anxiety and depression as well.  It must be noted though, that many women with premutations are able to conceive and you should not assume decreased fertility.  The decreased fertility is related to increased levels of some hormones, particularly FSH and a decreased length of a phase in the menstrual cycle called the follicular phase.  The current recommendation for women with the premutation is to have FSH levels evaluated and monitored throughout their childbearing years.

If you have POI and no known history of Fragile X, you have about a 1/50 chance of being a premutation carriers.  For women with POI and a family history of relatives with POI, you have about a 1/15 chance of carrying the premutation and have a significant risk of having a child with FXS as well.  Testing for Fragile X is highly recommended.

This is a fantastic PDF about POI , though it doesn't refer to Fragile X at all.    It contains a lot of basic information about how menstrual cycles work and what kind of tests should be run to determine POI as well as information on the different treatments.

If you are a FXS carrier, even without POI you should begin taking at least 1500mg of elemental calcium (make sure you check the label to be sure as most supplements total is not just elemental calcium).  For those with POI on a hormone replacement therapy, you should be taking at least 1000mg of elemental calcium split into doses of 600mg at a time as that is all the body can absorb at once.  Also be sure you are getting a decent amount of vitamin D as it helps to absorb calcium.    Calcium is such an important thing for women, but especially for FXS carriers as we are at higher risk for osteoporosis as well.

Read More...

FXS Carriers

After some debating in my head, I've decided to go ahead and post something this is not directly related to Ayden, but does pertain to me and multiple family members of mine as well.

See, my family carrries the FXS mutation.  As far as I know, it goes back to my Paternal Grandmother's family, most likely her mother was a carrier as well.  It can get mildly complicated, but here's a graph that kind of shows how it is moving through our family.  (for privacy issues, I didn't use any names, but Ayden is over there on the left with the (FX-M) notation.)

The first thing I think when I see that is how many carriers there are within my group of cousins. Being a carrier wasn't as big of a deal ten years ago when my dad was diagnosed. So much of the research now is showing there are multiple health issues that can arise from being a carrier though!

First, there is FXPOI. Fragile X Associated Primary Ovarian Insuffiency. Scary words, right? 20-28% of women that are Fragile X carriers experience this. Infertility, early menopause (we're talking prior to age 40), and/or decreased ovarian reserve.

Second, there is FXTAS. Fragile X-associated tremor ataxia syndrome. FXTAS is characterized by a progressive intention tremor, ataxia, cognitive decline, and generalized brain atrophy. For females, the symptoms consist of seizure disorders, thyroid disorders, and fibromylasia. It's much worse in males..termors, parkinsons-like shaking, balance problems, cognitive/intellectual declines, hand/feet numbness, loss of bowel control, low blood pressure, impotence... Keep in mind, this only affects carriers.
The two health issues listed above have been researched quite a bit. As Fragile X is fairly new, scientists and doctors have a lot to learn. Between when my dad was tested and I was tested I think was almost ten years. From when I was tested to when Ayden was tested was another 4 or 5 years. I'm quite serious when I say that between just those three tests in my family, the research has changed quite a bit. I don't want to even hit highlights because I'm afraid that some of the information that is no longer relevant will cause confusion, so I'll just leave it at that.

I have the honor of being included in a couple different FXS groups (including one on Facebook.) The groups are a mix of people with different types of FXS, but I find it amazing at how many individuals have the same type of health issues. I'm going to preface this next part with a disclaimer that these are my own inferrences (though shared by quite a few others in these groups) and not by any means medically proven yet. These are merely my observations from reading through a bunch of other peoples blogs, forum posts, and webpages.

• There are a lot of Fragile X Carriers with Fibromyalsia. A lot. I'd never heard of it until my dad was diagnosed last year - so it caught my attention when it came up in these FXS groups. Later, I talked to my dad and found that he has three cousins that also have fibromyalsia. Those three cousins are probably all FXS Carriers as well. I don't really believe in coincidences.
• Many carriers seem to have sensory issues including hand/foot tingling. 
• I've noticed a growing amount of FXS children with Type 1 Diabetes - of those that I've seen mention this, I'd say about 80-90% were diagnosed before age 5. I don't have the numbers, because I wasn't looking for this specifically only happened to notice as my niece is affected so I tend to pay attention when I see T1 mentioned. 
• It seems depression and anxiety are very high among carriers, especially those that are moms and even moreso of moms with FXS children. ((There is actually a study being conducted on this currently)) 

So, there is my take on FXS Carriers.  There is a lot of information out there on the National Fragile X Website about physical, cognitive, and social/emotional affects that you should read through if you are a carrier. Read through it.  Join the registry. Get tested. Be aware.  Not for me, but for you.  For your family.  Your children. Your grandchildren, siblings, cousins, nieces, nephews, their children, grandchildren....the list goes on and on.   Knowledge is power, and when it comes to FXS - more is definitely better.

Read More...