Clouds, May 2010

Clouds, May 2010

Tuesday, July 29, 2014

are you an eXpert?

In recent weeks people within the fragile x community have been hosting, contributing, and/or participating in fundraisers, walks, & other events, to let people know about fragile x during Fragile X Awareness month!

As July is soon to come to a close, I wonder... would YOU be able to answer this question:

What is fragile x?

There is a big difference between being able to answer this, & simply knowing someone who has fragile x.

If you are not confident that you can explain fragile x, & you're willing to admit it :) I hope you agree to quiz yourself.

Fragile x syndrome is:

genetic   b. caused by autism   c. both a & b

In total, there are ____ fragile x- associated disorders.

a. One   b. Two   c. Three   d. Four

3. National Fragile X Awareness Day is on:

July 1st   b. July 11th   c. July 12th  d. July 22nd

4. When it comes to fragile x, a person is either a carrier of the gene or they have the mutation. What are the chances of an affected female passing on fragile x to her children?

1 in every 4   b. 50% chance with each pregnancy  
depends on the sex of the child   d. it is randomly passed

5. Fathers who carry the fragile x gene in premutation form will:

only pass it on if the mother is a carrier, too
only pass it on to their son(s) but not their daughter(s)
only pass it on to their daughter(s) but not their son(s)

It is possible for the fragile X premutation to be passed silently within a family, for generations, before a child is born with the syndrome.

This statement is true as-is
True, but only in families of a certain ethnicity
Partially false-- the inheritance can only skip one generation  
This statement is completely false

So, how did you do?

1. The answer is A. Fragile X syndrome is genetic. Fragile X syndrome is not caused by autism. However, fragile x syndrome is the most common known cause of autism.

2. The answer is C. In total, there are 3 fragile x-associated disorders:
(1) FXS- fragile x syndrome
(2) FXTAS- fragile x-associated tremor/ataxia syndrome
(3) FXPOI- fragile x-associated primary ovarian insufficiency

3. The answer is D. National Fragile X Awareness Day is recognized & observed on July 22nd, during Fragile X Awareness Month!

4. The answer is B. A female has a 50/50 chance of passing on fragile x to each of her children.

5. The answer is C. A male carrier can & will pass the fragile x gene to his daughters, & only in a carrier form.

6. The answer is A. Yes, fragile x is often passed silently within a family for generations.

So, if someone should ask, please tell them:

fragile x syndrome is a genetic disorder. It is the most common inherited form of intellectual impairment, & the number one known genetic cause of autism.

Please explore to learn more!


Monday, July 28, 2014

people first

There is no such thing as a diagnosee. There are however, people with a diagnosis.

Just something to think about the next time you say "Autistics" or "Downs" or "Fx-ers". I do not know what any of those are, but I do know who humans are.

Having a diagnosis is not the same as a race or an ethnicity.

This is not just my thing. I am not making it up.

It's called People First language.

"People First language is used to speak appropriately and respectfully about an individual with a disability. People First language emphasizes the person first, not the disability."

I realize I can not stop all people from speaking this way, all of the time.

I can't even stop some of the people from speaking this way, all of the time.

But if I can change the way that some people speak, at least some of the time... then I will. If you agree, feel free to pass it on.


Friday, July 25, 2014

let's meet

I am not very friendly unless I know you (which really works wonders when getting to know someone), I am a homebody who generally dislikes traveling, & I have anxiety about nearly everything Hayden-related.

But take my advice, anyway: if you
have never been to a NFXF Conference before, you should go.

It took me about five years to warm up to these once-strangers that I did not want to have anything in common with. I first heard of fragile x in November of 2006. I first learned of its community some time in early 2007. I attended a Conference of said community in 2008. That trip kicked off a lovely, long process of grieving... & so by the time of the next Conference in 2010 when I was still pretty much stuck in the same place, despite my family's encouragement, I was adamant about not attending.

The next two years I somehow very slowly took a complete 180. Not only did we attend the 2012 Conference, I actually enjoyed it.

Well last week on Tuesday, July 15th I boarded a plane headed for California.
Aside from an insane amount of preparations, a little delay in take-off, & noticeable turbulence over some western mountain region... the flight was luckily otherwise uneventful.

We landed, I collected my luggage which thankfully arrived in baggage claim pretty quickly, & then I headed outside to find a ride to the hotel. I was incredibly relieved to see some familiar faces when I approached the lane of waiting taxis & hotel shuttles. At least I knew I would end up in the right place if I followed them (like I said-- don't travel much)!

I remembered one person from CSN training back in October in St Louis (I'll explain*), & another family I recognized from facebook. I introduced myself to the guy I recognized from St Louis & joined him & another couple in the shuttle. When they told me their names I knew I had heard of them as well.  

We were on our way to meet up with hundreds of others-- all in California for the same reason: The 14th International Fragile X Conference, hosted by The National Fragile X Foundation (NFXF). For me this was International Conference #3, however, it was my first time attending solo... & my first one as a CSN Co-Leader. (Translation: Community Support Network of the NFXF*, which I am a parent volunteer for, as Co-Leader of the New Jersey CSN.)

These Conferences by the way-- which occur once every two years (they used to be once every four)-- cover everything. Whether you're a parent or a physician, a newly diagnosed or long-time member of the community, a person with fragile x, a person without fragile x, or a carrier of fragile x... there is truly something for everyone. From family-friendly conference sessions, to very clinical sessions for professionals, & anything in between-- it's all there under one hotel roof (the location of which changes with every International Conference).

Literally upon arrival at the hotel on Tuesday, everything from that point felt like someone was holding down the fast-forward button for the rest of the week-- friends, forums, food, repeat...

I was even lucky enough to squeeze in a visit with family, because I happen to have cousins in Orange County. And I must mention that one of them had me upgraded to first class for the flight home which was a beyond-wonderful experience in itself... & one that I will not soon forget

But overall my California trip was jam-packed with way too many highlights to even begin to recap in a single blog post. And as much as I would love to return to this at a later date, & relive every activity of every day, I am simultaneously entirely too tired to log it all (which I so wanted to do while I was there, but the little amount of time I actually spent in the hotel room was to sleep or get dressed).  At the end of each day, I barely sat at the computer long enough to upload the day's pictures.

Each day was more awesome than the one before... to the point that, if there was suddenly a cure for fragile x... I would REALLY miss these conferences!

Don't get me wrong... I certainly hope that me & my child live to see a cure... but as the saying goes (I'm paraphrasing) this is seriously the best damn club that you would never wish to be a part of.

Although I can not promise you first class on your flight home, I can say that thanks to the incredible members of this unique fragile x community-- (as I mentioned in my speech for a dear friend last week--) we have helped one another to see something pretty unbelievable:
What started out as a diagnosis will eventually turn into confidence.

Do you know what the difference is between "conference" & "confidence"?

Two letters.

So to anyone in the fragile x community who is unfamiliar with both of those words-- you have two years to prepare...

See you at the 2016 NFXF conference in San Antonio, Texas...

(pm me if you want to know a great conversational ice breaker about polar bears...


Tuesday, July 1, 2014

thought you should know

Some time near the age of 5, one day, Hayden was walking around with his "bucks"-- (totally normal, he is always hitting people up for cash--) & at one point he kept saying that he needed two.

I knew he already had $5 in singles, & he sure did not need to run around with $7, so I was not exactly responsive to his request for more.

However, he was certainly persistent & gradually became more determined (to put it kindly)... "need koo!," he kept saying. (The "t" sound came out like a "k" sound.)

Finally I looked at the cash he was holding & sure enough he only had $3... hence the reason why he was looking for "koo" more... which got lost who-knows-where.

But the point is, this is how I learned that he does have the ability to count.

I may have already mentioned that story in a blog post somewhere along the way over the years... but any time I am offering an example of how people with fragile x syndrome (my son included) sort of mask their own knowledge... how they are as much incidental learners as they are incidental "revealers", if you will... the scenario with the $5 is usually my go-to story.

Hayden is also a visual learner & a sight-reader, so he knows what his written name looks like & can identify it. He has a pretty impressive "sight word" vocabulary... but he does not yet read in the traditional sense of sounding a word out.

Although, this has been a strength of his for a long time. Even before Hayden had expressive language, I remember his former teacher telling us that he could pair up a classmate's written name with their corresponding class chore-- both simply spelled-out on labels which went on the class job chart.

That was a pretty huge accomplishment.

The other popular perspective I offer is something that happened when he was also kindergarten-age (that was a truly breakthrough period of time-- with speech, too)...

You see, someone who used to work with Hayden (not for very long) once said, "I don't think he's getting anything out of it"... referring to his learning environment at the time. And this person offered an example of the section they had been doing about the weather... that's how they started each day... talking about the temperature, the sky, etc...

But the "educator" seemed solely focused on Hayden not staying seated... & Hayden having been fidgety... & Hayden doing this... & Hayden doing that... but one thing he would not do, was pay attention. That's what this person told us.

Ultimately, however, their "complaining" only offered me clarity. I suddenly understood why Hayden recently began talking about the weather so much at home-- seemingly out of nowhere. Now I knew the source of his new interest. And I'll never forget when I looked at this person & proudly said, "Oh, that's funny-- that explains why Hayden has been bringing up the weather when he looks out the window in the morning! He never used to do that!"

I didn't get a response. But this is how I learned for sure, that Hayden is truly paying attention even when he does not seem to be. 


Well tonight I just witnessed my third go-to story, & I think it tops the first two...

Hayden was playing waiter earlier this evening-- a frequent favorite-- & he was pretending to take my order. (I think he just really wanted a doughnut so I'll admit that asking me if I wanted iced coffee was a clever conversation starter.)

He said, "decaf?" And I said, "yes." And then he said, "spenda"? And I said, "yes, Splenda."

He had a little piece of paper & a pen & he was pretending to scribble a list. And then he said, "How you say your name, Mom?"

And I said, "What?" (He meant spell...)

And he said, "C - r - a ..." & then paused as if waiting for me to finish.

I called out to Dan & told him what just happened. With that, one of us looked at Hayden & asked him how to spell my name (I don't remember who), & again Hayden said, "C - r - a"... possibly even twice...

So then Dan said, "How do you spell my name?"

I wondered if Hayden would repeat the "C - r - a", or, call out any number of random letters.

But that's not what happened.

Instead, Hayden answered, "Dad!"-- as in the name, not the letters.

The truth is I am often spelling my name on the phone. It's the same thing every time... "Cara... with a C... C - a - r - a... Capela... one p and one 1..."

Dan is sometimes misunderstood for "Stan", but he can say "Daniel" & then it's understood that he is saying "Dan". My name, however, is often misunderstood for countless other names... & even when people do get the "Cara" part right, they'll still ask, "K - a - r - a?"

If I think about how many times I have spelled out my name over the course of Hayden's life, when he was within earshot... I can't even begin to estimate a number.

So, yeah... Hayden can count.
He is a visual learner.
He is an incidental learner.
He is always listening.
He is retaining the information he "incidentally" sees or hears...

He is Hayden. And he has fragile X syndrome. And he is a great learner.

July is Fragile X Awareness Month! And all month long, we're gonna
 Let 'Em Know