Clouds, May 2010

Clouds, May 2010
Clouds, May 2010: This picture was taken from the car window on Route 80 in NJ. The lines in the sky are obviously from planes, but the fact that they form an "x" caught my attention. And after I snapped the pic, I noticed the cloud to the left as it looks like a boy's face.

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.


Sunday, June 28, 2015

the e-word

In less than a decade I will endure the lengthy, costly, emotionally difficult process of legal guardianship.

Hold that thought for a minute...

So it used to be that gay & lesbian couples didn't have the right to marry, while plenty of heterosexual couples took it for granted & in some instances, abused the privilege altogether.

I would hope that most people want to marry for the same reasons-- whoever they are-- for love & commitment. This is a rite of passage that my son will likely never know. I am not saying this out of self pity or feeling sorry for him-- I don't feel sorry for him because he enjoys the most that he can out of life every day & he is happy. There are plenty of people in this world who do not enjoy the most out of life & never do get married even though legally they can (I am not stating that as one related thought, though-- I am just saying...)

That being said, do I still think it sucks that certain decisions were already outlined for Hayden (before he was even born)? Yes. But I also believe there is a power much greater than all of us, who trusted me & my husband with the privilege of raising Hayden. And that is why he was granted to us.

If the debate over marriage equality was just limited to emotional & social aspects, then this would not be an issue of civil rights. People who marry have the privilege of more legal protections & benefits than I can list. The piece of paper we call a marriage license essentially safeguards us & our families.

For the first time in history married gay couples (who, first of all, can be called married gay couples regardless what state they live in...) are now legally entitled to: hospital visitations, child custody, adoption, parenting rights, medical decision-making power, automatic inheritance, standing to sue for wrongful death of a spouse, spouse & child support, access to family insurance policies, & exemption from property tax upon death of a spouse... to name just a few.

I do not think about rainbows when I ponder this landmark Supreme Court ruling, although maybe the bright colors help. I simply believe the government made a decision to give others a chance to make their own decisions.

As far as I'm concerned it translates to nothing more than basic human rights.

I had no choice over the fact that I knew I wanted to spend the rest of my life with a man. But at least I knew that some day I could.
In less than a decade I will endure the lengthy, costly, emotionally difficult process of legal guardianship. Most of the time I use my blog (in one way or another) to communicate why I am endlessly advocating for equal dignity in the eyes of the law for my son. For someone I love. Albeit differently than a spouse, but does it matter?

Do you have any idea how much I wish that my son's basic human rights were a non-issue?

I will not insult people who disagree with me. But I will forever stand behind the government's decision in favor of something so sacred. Marriage? Yes. But more importantly: equality.  


Monday, June 22, 2015

the big ten

Double digits. The big 1-0. 

My not-so-little guy... 

He is ten.

I have always said Hayden's most prominent feature is definitely his smile. He wears it often & he wears it well.

I may not be able to expect that every person he comes in contact with is going to understand everything about him, but I do expect people to continue to notice how he is just like them. And I do expect his uniqueness to be viewed as opportunities of acceptance. Hayden is someone worth getting to know & my hope is that he always continues to be thought of & included.

And I wish for those who are close to Hayden to realize this privilege.

I pray that he will grow to understand that every time I think I can not possibly love him more, I still do.

Even through all of the frustrating struggles when I feel drained.  Especially after those immeasurably tough days,
or a weak moment of mourning over what could have been... I not only remind myself how far we've come, but that there will never be a cap on his progress. And I do believe he is aware of this, & that is why he is so content with this life he knows.

It all comes down the fact that I only wish for Hayden a life of endless comfort & effortless happiness. So far in his first ten years on this earth, he has damn near mastered the latter (may that never, ever change).

My Hayden. My love. He might be the reason sometimes I can barely wait to put my head on my pillow at night... but he is also the number one reason I want to get up every day.

Hayden, you're just a cool kid. I love your interest in tools, & cars, & trucks, & hitches, & tires, & fixing things... I love your interest in money & I hope that you have a lot of it... & I love that there are so many different genres of music that really speak to you... & I love your attention to detail... & I love that you still get excited about wearing something new & that you not only take pride in looking nice, but also insist on play clothes when you're doing your thing outside with your shed... I love your favorite uniform of choice when you mean business-- jeans, a white T, & work boots... I love that you appreciate a really great doughnut but couldn't care less about candy, chocolate bars, ice cream, or cupcakes... I think it's funny the way you eat meatballs sometimes as if they're keeping you alive but you have zero interest in a hamburger... & how you looove pizza, yet you will not go near macaroni & cheese if I paid you...

But my favorite thing is when the people closest to you are really excited to see you, because you tend to reciprocate their enthusiasm. It is genuine & shows the purity of your heart.

Our life with you may be different, but it is never boring. You are an interesting & loving person. I could not be more proud to be your mom.
Happy Birthday H-Man! 


Wednesday, June 3, 2015

a perfect ten

Yesterday was Hayden's last progress meeting of the 2014-2015 school year. We spoke about his general trend of non-compliance lately (more so in the morning vs the afternoon), task avoidance, & so forth. The interesting thing is that his treatment regimen this year has been helping very well... but for whatever reason(s) he is also going through a phase of simply not wanting to do work.
But I need to put yesterday's progress meeting into perspective. Because the truth is, H has also made some amazing strides that are not to be dismissed.

When I got to the school I stopped at the front office & had the best greeting ever. Apparently one day, recently, a certain third grader took it upon himself to fill in for the secretary when she was away from her desk. He was only supposed to be delivering something to the front office, but he had bigger plans. The child was caught on camera & I had the pleasure of watching said video on the secretary's cell phone... of my son pretending to do her job. One of the aides captured a couple of stills, as well:

I am telling you he has nearly all of the faculty over there wrapped around his finger (naturally I am perfectly fine with this). I can't count how many times we randomly run into people from school-- just around town for example-- & we're told how much they love our son & that his picture is on their refrigerator. Over the years I have given many thank you notes & many holiday cards, to many people who work with him. And it's beyond heartwarming to know how many kitchens are adorned with his contagious smile.

So anyway, back to yesterday morning at the school... next stop was to the Child Study Team room where we were meeting. Fast-forward near the end as we were wrapping up our conversation, & I heard the most fascinating story...

Apparently H's third grade classmates from Gen Ed were in the library giving mini presentations about books they read. H wanted a turn too, but instead of giving any sort of book report he stood in front of the room & (so I was told) spoke about friendship... or the importance of friendship... & about his buddy J who he had brunch with the day before. They said he was articulate & confident, & that even the librarian herself practically had her jaw on the floor. He thanked his audience when he was done, & the 20 or so students that he was speaking to clapped for him.

There are about 50 levels of amazing right there in that one update.

But without even listing them, the other little background piece is that we ended up having a scheduling conflict for this brunch date (that he spoke so well of), which we had planned many weeks prior. It turns out that the t-ball program H joined with his cousin was going to be giving out awards that day, as well as taking a team picture, & enjoying a snack together after their game. There is still one more game scheduled for this Sunday, but long story short it was decided they would do all of this at the second-to-last game instead of the last game.

I knew that he would be missing t-ball, but my heart sank when I found out everything else he would be missing too. An email went out just a couple of days prior & that's when we learned all of this. But as quickly as I felt bad about it, I also got over it... because the bottom line is that I knew we would not be able to reschedule brunch before the prepaid ticket expired. (The children's brunch tickets had been donated for our location Education Foundation fundraiser, so they were purchased back in March at the time of the event.) And this kid from school is such a gem of a friend to Hayden that I really did not want to cancel anyway.

Brunch was amazing... our little family of three with their big family of five... & the kids were nothing short of awesome. And the fact that this little event ultimately led to my son standing up & speaking in front of his whole class...

I can't even. Absolutely priceless.

So like I said,
yesterday was Hayden's last progress meeting of the school year. We spoke about his general trend of non-compliance lately & recent task avoidance.

But as you can see, as far as I'm concerned the meeting was a perfect ten.

Monday, May 4, 2015

happy tears

I do not have the faintest idea why I am so emotional-- good or not so good-- in response to most things Hayden... (said no parent of a child with fx, ever)

Well as of late, our Sundays have been no exception to this pattern. Hayden recently joined a t-ball group with his cousin Kaitlyn. In her township, this is one of various activities available through a recreation program called PEAK (Parents of ExtrAordinary Kids). She has participated previous years as well, but we have never been in a hurry to sign Hayden up for sports (his interests tend to lean towards cars, trucks, & tools to name a few). 

Well needless to say we decided to give this a try & our expectations were to get him there. Period.

So, here we go with the emotional response... because as soon as H got to the ball field, my eyes welled up with pride... the way he immediately ran ahead of us & was anxious to participate.. & when I saw him go up to other kids, extend his hand, & say, "I'm Hayden"... I can barely put into words how wonderful that was to witness. For me this was already a positive memory, regardless how the rest turned out. 

Of course I was taking pictures every minute or so, & when I saw the X in the sky my heart skipped a beat. For anyone who knows me & knows how this has been my thing for about five years now-- (possibly) obsessed when I spot an X in the sky-- I look at these pictures of H at the tee with that beautiful sign above him & it just warms my heart.

On that note, without going into every detail of every ten minutes, I will say the second week was amazing as well. A couple of people from the school expressed interest in wanting to see him play, but I didn't say anything to H in case one or both of them couldn't make it. And when we showed up the following week for his second game, he had an entire cheering section waiting for him-- literally. Over by one of the picnic tables there was an entire group ready to root him on.

(Cue more happy tears...) 

I still get choked up every time I look at that picture & the pure joy on his face.

I missed yesterday's game-- week three-- but had a very good reason which I'll get to in a moment. (It actually turns out we have multiple scheduling conflicts with the t-ball games, & despite our best efforts he is going to miss more than one but I am glad we tried.) Hayden still had a wonderful cheering section... both sets of grandparents were there, both of his Aunts, & all of his younger cousins (his second older cousin, Kaitlyn's brother, was at the last game) :) I wish I had been there to spend time with my sister & nieces who schlepped out from NY... but I also heard when they were at lunch after, Hayden tried a smidgen of chocolate ice cream! (And so did his jersey which I spot-bleached, but didn't know what the heck the stains were from.) Sensory issues frequently interfere with his diet so I love when he tries something out of his comfort zone! It does happen occasionally! Here is an adorable picture of Miss Flora happily encouraging him:

Anyway, the reason I missed it...
The NJ Community Support Group (CSG) is part of the National Fragile X Foundation's (NFXF) parent volunteer program, & as most people know I co-lead the NJ CSG alongside my friend Paula... (here we are if you ever need us...)
We had set the date for yesterday's Planning Meeting before I knew about t-ball. But we had a very fun, productive meeting which Paula graciously hosted in her lovely home.

Amazing mamas <3 
I learn new things every single time I am with other parents within the fragile x community. Like they say, hands-down the very best & most incredible club that we would not have wished to be a part of.

The next bit of good news I've been anxious to share ever since we had Hayden's annual IEP (never thought I'd say that one...), is an unexpected change that I successfully FIXED. 

So when I got the revised draft of Hayden's IEP & I saw the summary under "Parent Concerns"... there went those happy tears sneaking up on me again. It states:

"Mrs. Capela is very happy with Hayden's growth in all areas. She was concerned with the changes to [something something]. Hayden performs significantly better when there is structure and routine. After the conclusion of the IEP meeting [in other words, upon receipt of my letter] the Andover district made changes to the school's [something something]. Hayden will now be eligible to [have things the way they should be ;) ]."

All because I spoke up, & supported my concern with specific reasons why it should be fixed. Advocating works!
Okay, well, maybe not every single time... but even if you don't achieve the exact outcome you were striving for... it is still VERY important for decision makers to hear your voice. That much I can promise.

Speaking of advocating, last but certainly not least...
One year ago I met with Senator Oroho to discuss National Fragile X Awareness Day being recognized in the state of NJ. The date would be aligned with the official national date of July 22nd... which by the way has been recognized by Congress since 2010, & was also adopted in various states both before & since that time... with July 22nd being the majority date of observance.

Senator Oroho & Senator Vitale are both Primary Sponsors & today, May 4, 2015 the bill was reviewed by Senator Vitale's Health, Human Services & Senior Citizens Committee
When we have the official word that it has passed, the world will know :) 

This concludes my long overdue blog update for now... stay tuned, I will return... <3