Clouds, May 2010

Clouds, May 2010

Friday, July 31, 2015

3 things

H is just a kid... not to mention he happens have a condition that affects his intellect... a genetic disorder linked to global developmental delays...

But make no mistake my little guy is paying attention! And he knows me better than most people.

At the first fragile x conference that I went to, one of the moms who was presenting was talking about the different facets of fx... how there will be no shortage of challenges, & difficulties along the way that we could not have fathomed... & other hurdles that we will come to expect.

But I distinctly recall her saying that there are also the times when you will wake up in the morning & go to the kitchen to make your coffee, & in the spot where you sit at the table the newspaper will be waiting for you. Someone will have fetched it from the driveway or the front stoop, & placed it there in anticipation of the fact that you will read it with your morning coffee, as per your usual routine.

Never mind the fact that I don't drink coffee-- except iced, occasionally-- or have a paper delivery. Because I can still relate. For example this morning I called to Hayden from my bedroom to please bring me a paper towel (he knew I had just gotten out of the shower). He replied, "What is it? A bug?"
And then he arrived with somewhat of a side smile, a single sheet of paper towel, & a butter knife. Could have done without that last prop but I appreciate the thought in case it had been an insect more substantial than a baby stink bug, & I might have needed to defend myself.


July 2015 was a very successful Awareness Month. I am particularly excited for next year when the Bill will have passed recognizing July 22nd as Fragile X Awareness Day on a state level, here in NJ, consistent with the (already established) nationally recognized date. 

And as the generous amount of awareness in our news feeds starts to lighten, I want to emphasize an important take-away...

I do not expect everyone to remember what fragile x is by definition. Although, if you're curious, my go-to explanation is usually something inclusive of:

"Fragile x syndrome is a genetic condition. It is the most common inherited form of intellectual impairment & the number one known single-gene cause of autism. Approximately 1/3 of people with fx also have autism."

I might go on to explain that "the name fragile x stems from too many breaks, or repeats, on the x chromosome. Fragile x interferes with the body's ability to produce a specific kind of protein needed for normal development."

That is part of what a geneticist at a fragile x clinic once told us. Sometimes I go on to explain a little more of what I learned...

In most people your body will know how much of this protein to produce & when. This specific protein is not needed in most organs of the body. But one vital organ that does need it, is the brain. So this lack of protein causes a depression... not in the more known sense of the word, but rather a depression on the brain because information in an individual with fxs is not processed the same... thus resulting in over-expression or under-expression.

Again, I hardly expect everyone to remember that.

But if anyone ever asks YOU... here is what you can say:

1. Hayden has something called fragile x. It's a genetic condition that he was born with.
2. Fragile x causes learning delays & you may hear speech or see behaviors that are different.
3. Most people with fragile x look the same as other people, & the enjoy the same things as them, too."

Or you can just tell them that he's a nice kid who likes to save his mom from bugs.

Either way thank you for listening, thank you for participating, & thank you for asking really great questions.

We are perpetually grateful for all of the support.
Much love from our family to yours.


Wednesday, July 22, 2015

Fragile X 101

It's here!

During Fragile X Awareness month in July, the National Fragile X Foundation has published a month's worth of facts :)

Although I have neglected to post daily, I have condensed the list for my blog... & slightly catered certain portions to our personal experience.

Please take a few minutes to read these incredibly interesting facts about fragile x! 

Fragile X encompasses a group of conditions-- that's right, it is not just one!
There is:
  • fragile X syndrome (FXS)
  • fragile X-associated tremor/ataxia syndrome (FXTAS), usually present in male carriers
  • fragile X-associated primary ovarian insufficiency (FXPOI), prevalent in female carriers 

The gene responsible for Fragile X is called FMR1 and is found on the X chromosome.

Everyone has the FMR1 gene on their X chromosome! But of course there is an interference with it, in people with Fragile X.

The FMR1 gene was identified in 1991. The FMR1 gene makes a protein (FMRP) important for brain development. People with fragile X syndrome have a deficiency of this protein.

Changes, or mutations, in the FMR1 gene are what lead to developing one of the Fragile X conditions.

These mutations are defined by the number of breaks, or repeats, seen in the DNA. The “normal” range for most people is around 50 repeats (give or take). The number of repeats for people with FXS is more than 200, & can exceed 1,000! 

FXS is a spectrum disorder. However, regardless how high the gene expansion is, this does not necessarily mean that a person with FXS is more affected; unless, as a geneticist once told us, the repeats are over 1400.

Fragile X is diagnosed through a DNA sample, most typically from blood, but amniotic fluid & other tissues can also be tested.

Hayden tested positive for fragile x syndrome when he was 17 months of age. His pediatrician at the time referred us to a pediatric neurologist, & the neurologist ordered a blood test. 

Approximately 1 million Americans have, or are at risk for developing, Fragile X. 

All Fragile X conditions are genetic, passed through generations (often unknowingly—as was the case with our family!) 

Fragile X can be passed on by carriers of the FMR1 gene mutation, who have no apparent signs of FX.  Hayden’s Grandma, my mother, is a carrier of fragile x. 

Females who are carriers of the Fragile X gene mutation have a 50/50 chance of passing FX on to each of their children. The gene was passed on to me but not my sister. 

Males who are carriers of the Fragile X gene will pass the gene to all of their daughters (giving them his X chromosome), but can not pass it to a son (they get his Y chromosome). In our family the male carrier was my grandfather & he passed the gene to my mom (& both of her sisters, but not her brother). 

The full mutation (over 200 repeats) causes the FMR1 gene to “turn off” & not work properly.

Approximately 1 in every 3,600 - 4,000 males have the full mutation of Fragile X.

The number is slightly less prevalent in females, with an estimated 1 in 4,000 - 6,000 having the full mutation of Fragile X.

Fragile X syndrome is the leading known cause of inherited intellectual disability.

Although Fragile X syndrome occurs in both males & females, & both can have a wide range of severity, the symptoms are generally milder in females. The reason is because they have a second X chromosome.

I am personally an example of such a case. After Hayden tested positive, I tested positive too. I am not a carrier of the gene but I do have the full mutation. I/ we never knew, because my other X chromosome compensated.

Fragile X syndrome is the number one genetic cause of autism. We know FXS is not the only cause of autism, but so far it is the only leading known cause.

Approximately 2-6 percent of children with autism are diagnosed with fragile X syndrome. And approximately one third of people with FXS, also have autism.

People with fragile X syndrome can have a variety of behaviors including, but not limited to:
o   Hyperactivity/ short attention span
o   Difficulty making eye contact
o   Anxiety
o   Impulsive/ challenging behaviors
o   Sensory processing issues
I would say that anxiety, attention deficit, & sensory processing disorder are near the top of the list for H.

However, so is his AWESOMELY delicious personality! He is an engaging, charismatic guy… he’s funny & fun to be around & gets genuinely excited to see some of his favorite people… he is a cool dressed dude, too—albeit opinionated about his outfits sometimes—but that’s fine by me! The kid cares about the way he looks & he looks good caring ;)

People with FXS generally have many strengths:
o   Excellent imitation skills
o   Strong visual memories
o   An eagerness to help others
o   Socially-motivated & friendly
o   A wonderful sense of humor

People with fragile X syndrome often have global developmental delays, including speech delays.

Some of the physical features of fragile X syndrome can be evident from birth, & some may develop in puberty. Characteristics can include large ears, long & narrow face, high palate (roof of mouth), flat feet, & hyperflexible joints to name a few. 

Females with fragile X syndrome may tend to have difficulty with math, reading maps & graphs, recognizing social cues, & they may experience social anxiety &/or depression.

While there is currently no cure for FXS, there are many areas of treatment & intervention that can improve the lives of affected individuals… & their families! Given the proper education, therapy & support, all persons with FXS can make progress. They can continue to learn & develop skills throughout their lifespan. 

As many as 1 in every 151 women, & 1 in every 468 men, are premutation carriers of the Fragile X gene.

Fragile X-associated primary ovarian insufficiency (FXPOI) is a cause of infertility, early menopause, & other ovarian problems. This occurs in approximately 22% of female carriers. 

Fragile X-associated tremor/ataxia syndrome (FXTAS) is an adult onset condition (over the age of 50)-- more prevalent in males-- but can cause neurological & psychiatric symptoms in both male & female carriers. 

Hayden’s great grandfather, my maternal grandfather, had FXTAS but we did not know it at the time. My Poppy was a physician & he was a brilliant man, but there was not enough awareness at that time. The doctor’s all believed that his decline in motor function was caused by excess fluid on the brain, from natural aging. He passed away when I was about 5 months pregnant with Hayden. 

FXTAS is often initially misdiagnosed as Parkinson’s disease, Alzheimer’s or a stroke. Features may include balance problems (ataxia), tremors, memory loss, mood instability or irritability, neuropathy (numbness of extremities), & cognitive decline.

Premutation carriers may experience some medical problems more commonly than the general population. Separate from FXPOI or FXTAS, problems may include:
o   High blood pressure
o   Depression
o   Anxiety
o   Hypothyroidism
o   Chronic pain especially related to neuropathy or fibromyalgia
o   Sleep apnea

Testing for fragile X syndrome should be provided to anyone who has:
o   A family history or clinical symptoms that suggest FXS, FXTAS, or FXPOI.
o   A family member with intellectual disabilities, developmental delay, speech & language delay, autism or learning disabilities of unknown cause.
o   Expressed an interest in or requests Fragile X premutation carrier testing.

There are medications available which can help with symptoms of Fragile X.

Currently there is nothing specifically indicated for the treatment of Fragile X, however, there is a lot of exciting & promising research in the Fragile X field. Many studies are now in human trials, & the great majority of scientists & clinicians are optimistic that new drugs will prove safe & beneficial. 

There are many families living with Fragile X all over the world, & there are many resources available via The National Fragile X Foundation. The NFXF has a comprehensive website & staff available to take your calls at 800-688-8765. Furthermore, there is a nationwide Community Support Network (CSN) with groups all over the country.
I am the Co-Leader for the New Jersey Fragile X Community Support Group. If you ever have any questions, I can be reached at

Click here to support H's annual fundraising page, as part of the NFXF campaign! GO TEAM NJ!
The 2015 Virtual 5k Let 'Em Know Event!


Wednesday, July 15, 2015

one good thing

I recently watched an Oscar winning film (from 2014) about a woman with Alzheimer's. On the surface this has absolutely nothing to do with fragile x. But anyway in the movie the woman who is a mother of three, learns that the type of Alzheimer's she has is rare & it is genetic.

Her character is a professor & there is a scene when she is on her way to a lecture at the University when one of her daughter's calls her. Here is a recap of the conversation:

"Hi Mom."
"Are you okay?" the mom asks.
"I got the results. I'm positive," the daughter says, very matter-of-fact.

The daughter was tested to learn whether or not she is a carrier of the same gene her mom has. She also tells her mom that the brother's test was negative & the younger sister did not want to know. There is an earlier scene with the neurologist when the viewer learns it's a 50/50 chance of the gene being passed on to the 3 children. Then the mom asks the doctor if it was passed, what are the chances they will develop the disease? And the neurologist answers that unfortunately it would be 100%.

So fast-forward back to the scene with the phone conversation, & as the mom is trying to digest what her daughter just told her, she asks how she is feeling. A side storyline is that the daughter & her husband have been trying to conceive. 

"I'm okay," the daughter says. "One good thing, at least I found out now before the next IUI session. I guess there's a way they can test the embryos so they can be sure the babies will be okay."

In real life I personally had no idea that my child was at risk for having a genetic disorder passed on to him/her... or that I was the one who had a 50/50 chance of passing it on. And since Hayden is a boy-- I didn't know that either when we were expecting-- but since he is, the chance that he would be affected is 100%. This is because males only have one x chromosome.

If I had known ahead of time, I would have felt the same way as the daughter in the movie. Except we didn't know. This is only one of a million reasons why I am determined to continue to raise awareneXs for fragile x.

From a medical standpoint-- & truthfully political, too-- this is crucial to demonstrate the need for research funding. From an educational standpoint the awareness is vital for establishing both appropriate learning & work environments, to help individuals be successful.

And from a social standpoint awareness helps reveal understanding, & ultimately, acceptance.

So if this were my movie, my character might say...

"One good thing, at least we know now. And there is a way we can be sure our loved ones will be okay." 

July is Fragile X Awareness Month & July 22nd is National Fragile X Awareness Day-- it is an official date as recognized by the United States Congress.

All month long, members of the fragile x community are helping to spread awareness. Go here for more information

And next Wednesday on July 22nd, please wear green to show your support. We are also participating in the annual NFXF fundraiser-- as part of the NJ Fragile X Community Support Group's team-- & you can visit Hayden's page here:

Thank you
Let's make a positive difference with our knowledge.