speaking my piece

The students began their new school year in their new classrooms barely two & a half weeks ago. The elementary school just had Back to School Night last Thursday, middle school is having theirs tonight, & both schools have Picture Day on Thursday & Friday respectively.

The kids probably still have unsharpened pencils in their desks & notebooks without any creases in the cover. Many of them are carrying backpacks that are barely broken in. But we're all getting back into the swing of things together.

So don't mind the fact that many of us raised an eyebrow over our absent Principal at last week's Back to School Night-- as for me, I innocently assumed she must have had a personal emergency. And never mind the fact that the middle school is having their BTS Night tonight, when Yom Kippur begins-- you know, the holiest day of the year on the Jewish calendar. I completely understand that our community does not have enough of a Jewish population to warrant school closings during Rosh Hashanah or Yom Kippur. But to actually schedule an event that both parents & faculty should not miss...?

And in the middle of all this I have been trying to set a date to visit H's class for our annual fragile x chat-- of course not understanding why it was taking so long for anyone to get back to me. Well the iceberg was certainly visible last night as the news about our Principal became public, & our community suddenly learned that said person was spontaneously resigning. The position was filled just over a year ago, so basically it's as if someone cued a bunch of bricks to unexpectedly crumble from the walls.

So pardon me if this feels like we are in the middle of a Twilight Zone.

I have my own suspicions just like the next person, but truthfully I don't know everything that is going on (although even if I did, I certainly wouldn't publish it here). What I do know is that the teachers & the kids-- they are the ones who are going through this & it frustrates me because they are the ones who make school great. When one is enthusiastic it's reciprocated by the other. I have said this many times before but it's an appropriate time to re-share, that when Hayden was new to his current school we had a specialist in the fx community come out & observe him. I met with his team & we were in complete agreement that it would be helpful to have input from an expert. The importance of crafting an appropriate education plan for Hayden was mutually recognized. And at the end of the day when we were saying goodbye to the psychologist from the fragile x clinic, she told me & Dan that the people who work with Hayden renewed her faith in education. I am proud to brag about that-- I don't envy our teachers but I respect them & I am one of their biggest fans.

So while everything is still fresh-- new school year, new school supplies, & unfortunately new surprises-- I hope everyone remembers that even amidst this uncertainty we ought to strive to continue to be a district to be proud of.

And when it's time to stand in front of that camera for Picture Day so close to the start of such an unsettling school year, I hope chins are up & brows are relaxed. I hope the faculty carries happy, confident expressions knowing that the parents in the community stand beside them. And I hope the students carry the same poise in front of their dedicated educators. 

If someone pulls the rug out from underneath us sometimes we have to remember it was only covering the floor. 

Just wanted to speak my peace.

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moving up

In our world July & August are a combination of summer school & sitters, in between family time & outdoor activities (usually involving water). Hayden is always busy but during August, especially, there is much less structure. It's extremely difficult because as much as he needs the extended school year instruction, & he clearly benefits from it, the timing is very challenging to schedule around.

However I was pretty psyched at the beginning of summer when I had three great sitters lined up & schedules mapped, nearly two months out! Let's call them sitters A, B, & C. We even found Sitter D when Sitter C accepted an opportunity elsewhere. However we also knew Sitter B would not be available in August. (Still with me?) Then unfortunately as it turned out, Sitter A realized she would not be available for two weeks (also in August). Then things got even more interesting when Sitter D (who essentially replaced Sitter C)-- very nice young lady-- was not able to adhere to the original schedule we discussed (or didn't want to).

These are among the reasons why I switch to a wipe-board calendar before summer every year.

Anyway, we get through all of that & then September comes. There are lots of people who are not exactly excited about September for the simple fact that we are that much closer to cooler weather. Some are just annoyed that their relaxing summer evenings & lazy weekends have turned into homework-consumed stress, & an overwhelming schedule of sports (which also tend to interfere with dinner time during the week). Even corporate America as a whole just seems much more busy, & most commuters would admit that life in general is more congested, post-summer.

I am glad we have summer & I'd be sad without it, but I welcome the change of the season. And I will not miss the days of receiving a continuous stream of text messages-- I think the record was about 25 in an hour-- from any one of H's sitters because he is looking for a random red hat, or obsessing over his closet, or throwing the food that his meds are in, or playing with the dog's bowls (that was a new one), or emptying all the garbage bins, or stripping his bed to gather laundry, or refusing to come inside, or only wanting to cut pictures out of nice books (hello, random), or playing with the hitch on the neighbor's boat, or swearing, or disassembling any number of things with his screwdriver, or not letting the sitter close the front door when the AC is on, or taking stuff off the shelves in the living room, or grabbing all of the silverware out of the silverware drawer & dumping it in the sink, or, my favorite one... insisting that he can only drink out of a pitcher which inevitably led to a change of clothing, & Hayden having his mind set on wearing something that was of course nowhere to be found.

It's interesting because he does like each of these sitters-- I can tell because he's not good at faking it when he doesn't! But basically this summer was just a hint that regardless of his age, Hayden may always have a bit of toddler left in him. (Remind me to share that list with school administrators the next time I am trying to advocate for consistency, & the importance of familiarity in Hayden's schedule.)

So anyway, this is Hayden's final year in elementary school & in the fall of 2016 he will be on to the middle. This is his last year of having class parties for most of the holidays, & walking around the field for the annual Halloween parade, & occasionally being the unofficial teacher assistant for the preschoolers at the other end of the hall, & having a school-wide snack time, & using only a backpack & desk instead of a locker. This reality gives me a lump in my throat.

Hayden also went to preschool at the current elementary school he attends. So he has walked those halls since 2008! And for seven school years I have happily put together holiday goody bags for all the kids in his class/ homeroom... & for (going on) four of those years, I have spoken with his peers (& faculty) about fragile x... witnessed him gradually develop the courage to participate in three school concerts... & we've watched him parade in seven different Halloween costumes. They were (consecutively): a race car driver, chef, cowboy, cafe waiter, doctor, mechanic, & a UPS guy (complete with hand truck).

This Thursday is Back to School Night-- I will probably be that one  parent dotting their eyes with a tissue for no apparent reason. I also have little doubt that I'll be doing the same at the school concert. But if you see me at the Halloween parade watching my 4th grader marching around, with an expression on my face like a mom watching their kid go off to Kindergarten for the first time... just don't mind me.

I'm going to milk this school year for every single memory I can capture like a loony tourist.

--

A number of weeks ago, H said he wanted to dress up as Grover for Halloween. Aside from the fact that he would never keep that head piece on, I have only found Sesame Street costumes in either toddler or adult sizes but nothing in between-- not to mention the latter of the two is beyond my budget anyway. But somehow as we were talking about that, the hand truck came up in conversation-- as I tried to gently tell H the truth that I would keep looking for a Grover costume, but wasn't sure we'd find one. Maybe we were talking about possible props or accessories-- I am not sure. However, when he mentioned it I told him he can certainly use the hand truck again-- we just needed to think of someone different who uses one, that he could dress up as. In about two seconds he said, "Movers."

Done. This year we'll use wire ties to attach small furniture to the hand truck (instead of boxes, so it doesn't look like last year), & as my cousin cleverly suggested we should put on a back support belt too. And yes I will most certainly have to figure out some sort of a uniform shirt with a custom logo on the back ;)

I mean it is his last year of this & then...

(insert me sighing)

So I guess the costume will be symbolic after all.  

Don't mind me as I reach for a tissue...
--

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.

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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 fragilex.org & 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 CentralNJ@FragileX.org

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!

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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 www.fragilex.org

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:
https://www.crowdrise.com/fxnjlek2015/fundraiser/caracapela

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

--

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.  

--

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! 

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