ain't too proud to brag

 I just scrolled through all of our Ring camera footage in the hopes that something Hayden did today was captured, but two of the cameras only caught the tail end of it so the perspective is lost. 

I was inside when I heard him release a deafening shriek. For a split second it terrified me-- a bear was the first thing to come to mind-- but a scream of that volume was also familiar. I haven't heard it with quite that much gusto in a while, but luckily I very quickly realized what time it was & that my dad had arrived. Hayden didn't know he was coming to visit him today, but it's also worth noting he just saw my dad the day before yesterday. 

The start of a new school year is typically bittersweet for me... hopeful for learning... for progress... for Hayden to gain confidence & useful life skills, etc. But it's also a subtle reminder that he's a 10th grader only by the number of years he has been in school. And actually because we opted not to have him start kindergarten right when he turned 5, he would in theory already have his learner's permit... & have been practicing being behind the wheel all summer. 

Bittersweet also because even though we love his teacher & there are other wonderful people who work with him, it is also a very small school. It's a beautiful building in a lovely setting but it is a very small population of students. There are some advantages to this-- the pandemic for one has certainly emphasized that perspective. But among the downsides, for one, is much less opportunity for socialization. 

Every school year we inch closer to a future reality for him, & all of the difficult adjustments & transitions that will come. But something as simple as his genuine, heartfelt excitement to see my dad really highlights another perspective. And it's something that a speech therapist from elementary school pointed out to me many years ago... how his Mayor-like presence wasn't anything I did & that it was all him. It was always the way he would make people feel. He is undoubtedly motivated by people who are genuinely excited to see him. But the fact that he so openly reciprocates in such an innocent, warm way without holding back... is rather rare. Especially for a teenager! 

He's not self conscious about being excited to see someone. He's not worrying about what his happiness & enthusiasm might look like. He's just Hayden. (People at school know what I'm taking about-- they've witnessed this at one time or another over the years, in the pickup-line at the end of the day.) And while I know there are some wonderful teenagers out there who are truly kindhearted, I've never met anyone who screams with that much enthusiasm & joy unless (maybe) they're at a concert. 

So as I scroll through social media & I'm a little more aware of differences (happens most often in August/ September & May/June)... & I'm a little more aware that I don't have a sophomore in high school with his learner's permit... & sports accolades or academic accomplishments.... I'm reminded that I do have a teenager who still has a smile that could melt your heart & light up an entire room. Because his heart is authentic & unfiltered.  And there may not be a bumper sticker which captures that sort of essence, but I'm proud of Hayden's happy-scream. And every once in a while I give myself permission to brag about that. 

---

July 22nd

Couldn't let today come to a close without some sort of blog post. Fragile X Awareness Day is a day when people all over the country & all over the world put extra effort into raising awareness about fragile x syndrome, & fragile x- related conditions. July is also Fragile X Awareness Month so there's been a fair amount of awareness in my social media feeds, & that will continue for another week or so. But today is the official annual Awareness Day on the calendar. 

Fragile X Awareness is important so no one feels alone. I happened to speak with a couple of parents today who recently reached out because they needed help with something. Even being an ear for someone else can have a reciprocal calming effect, too. But if I didn't have the comfort of family, friends, & other parents in the fx community... I don't know how I would even put one foot in front of the other. 

Fragile X Awareness is important because individuals with disabilities either need to advocate for themselves, or need people to advocate on their behalf. If we do not shed light on societal issues that can further hinder their way of life, then not only does this unnecessarily hurt them but it also creates a societal burden. What they need are appropriate protections & opportunities... so they can be contributing members of society. 

For me, the biggest reason why fragile x awareness is so important....
There are many, many genetic disorders. But when it comes to inherited genetic disorders, that puts the importance of awareness in a whole different category.

In my family we traced the gene back to my maternal great grandmother, who had no idea she was a carrier. And certainly never knew it was fragile x syndrome that made one of her three children so different from the other two. And then my grandfather, who by the way was a physician, would have no idea that he was a carrier & would pass this gene to all three of his daughters (also in carrier form). He would have no idea why he had tremors later in life, to the point that he could barely walk (FXTAS, Fragile X-associated Tremor- Ataxia Syndrome). Of course his three daughters (my mom & her sisters) wouldn't know that they were all carriers. His son, who would also become a doctor, would not carry the gene as it can't be passed from father to son.

One of his daughters would have FXPOI (Fragile X-associated Primary Ovarian Insufficiency), & the other two daughters would have children. It's a flip of a coin whether or not a woman passes the gene, & my mom's sister did not pass it to either her son or her daughter. Then my mom had her first child, my sister, & the gene was not passed to Jenna either.

I was the last chance for that gene to make an appearance & no one had any idea that it did. I was born with a full mutation of fragile x syndrome but because females have two x chromosomes, sometimes the other one compensates. Which is exactly what happened in my case. Even though I am not a carrier like most moms, still the full mutation would give me a 50/50 chance of passing on the fragile x gene... which again, we were unaware that I had.

And that brings us to Hayden.... the reason for my commitment for raising awareness. I don't know that the perspective of all this can even scratch the surface of just how grateful we are, but if you participated today (or this month) THANK YOU. For posting on social media, wearing green, or donating to Hayden's annual fundraising page for the NFXF. And a special shout-out to the anonymous donor, thank you so much. 

Fragile X Awareness is only effective because of amazing people like all of you. 

--

Sammie

Thanksgiving weekend of 2014 we went to a local pet rescue center to meet a prospective dog to adopt-- a chocolate lab puppy which Hayden would not go anywhere near. Then one of the women working there asked us if we had met Sammie. We did not recall seeing a Sammie on the website so she told us she was a 5 year old hound. We had our hearts set on a retriever, but she suggested Sammie's disposition might be better for Hayden. So they called up Sammie's foster mom & a little while later a young woman came in with a dog who didn't seem all too enthusiastic about being there. Turns out she was a long-legged coonhound mix which was a breed we were not at all familiar with. 

But within a minute or so none of that really mattered because Hayden just casually accepted the leash from the foster mom & literally started to head out of the building. This is a child who barely cared about visits to the zoo & generally speaking showed little or no interest in animals. But with that, of course Dan scrambled to catch up with him & grab food & a bed, while I was suddenly writing a check. Next thing we know we were on our way home with a strange dog & welcomed a new family member into our completely unprepared-house.  

We soon learned she was not 5 but going on 7, & after looking through her paperwork (yes, she actually had a fair amount of it) we also learned we were her fourth home-- two were in Georgia & two were in NJ. Her first family named her Sammie-Sweetie & it appeared everyone after that kept it. If they thought she was so sweet we don't know why they let her go, but they all did. We kept her name to avoid confusing her but dropped the Sweetie part (we thought Sammie was fine as-is). 

Sammie fit right into our family. We quickly realized she was 50% sweet & 50% stubborn (maybe 60/40). She would like schedules & predictability, & would not like if things were out of routine. She would never be just hungry-- she would get hangry. And she would almost always act like she was doing us a favor when we pet her-- eventually start barking until she got a treat. It's as if she was trained to expect a prize for sitting there & tolerating having her belly rubbed or her back scratched. Other times she would practically push her head into us-- either our hand, or our leg-- because she didn't want us to stop. But she'd still expect a prize for her attention efforts. She would generally be an impatient dog & also would not listen too well. We would learn she was not a fan of other dogs, but she was a people-person (or a people-dog) especially with adults. She would not exhibit much athleticism (playing catch, etc), but she would certainly be on high alert if a Fed Ex, UPS, or garbage truck was coming up the road. It wasn't long before we realized just how much she would have in common with Hayden.

She joined our family over Thanksgiving weekend six & a half years ago, & sadly left us this Independence Day weekend. This morning, July 3rd, we had to put her down. She was 13 1/2. She was the absolute sweetest pain in the ass, probably much like a human teenage daughter, but with unconditional love mixed in. She completed our family. And rescuing an adult (almost senior) coonhound instead of a retriever puppy turned out to be the very best unexpected plan we could have ever imagined.

I don't know whether or not she'd be impressed with a rainbow bridge, but as she slipped away I whispered, "look for the trucks & the cookies." 
 
R.I.P Sammie Capela
January 2008 - July 2021 

superhuman strength

Hayden's developmental pediatrician, the doctor who manages his medication regimen, has wanted Hayden to have bloodwork for some time now. This is due to one of the medications that he switched to a couple of years ago. At the earliest time that it would have been appropriate for him to get the first blood test, which was within the first year of taking it I believe, it did not happen. Less than a year after that, the pandemic happened. His visits with the developmental pediatrician went virtual, but he did have an in-person visit with his regular pediatrician for his annual checkup. Based on his health at that time, the pediatrician said if we did not yet feel comfortable bringing him to a lab for his bloodwork that we could wait. Well, now we're into the following calendar year. At his most recent scheduled visit with the developmental pediatrician, the concern was voiced that now it really is time. The latest script for the bloodwork was due to expire soon as well. 

Dan & I planned to attempt this today. The last time Hayden had bloodwork he was just a little kid-- (due to suspicion of Lyme disease--) & he doesn't remember it. The time before that he was barely a toddler & that was the big one-- just before the fragile x news-- because he was tested for everything under the sun to try & determine the cause of his developmental delays. So knowing that he didn't have a point of reference (if you will) for getting a "blood test", I simply told him you don't have to answer any questions (he takes things literally). I said it's a tiny sample from your arm, & it's really quick. He was immediately anxious but I reminded him he felt the same way before the dentist, & before this appointment & that appointment, but then after he got it done he was always proud of himself. Naturally, he also wanted confirmation of a prize after. 

The developmental pediatrician referred us to a lab within the same healthcare system, & explained that they are experienced handling all kinds of kids.

When we called the lab to schedule the non-question blood test, we found out they only do walk-ins. I explained our situation, did not sugarcoat the challenges this would pose, & they said as long as we come between 10 & 2 they would have the maximum number of technicians on staff because the morning & evening hours are more staggered. They also suggested having one of us go up first to register Hayden so it's less wait time. Called again about an hour & a half ahead of our likely arrival time, & I gave them a heads-up about what time we would be there. The woman I spoke with said she gave the lab his name, so at least they'd know who we were when we got there. Dan arrived first & what do you know, they wouldn't let him register Hayden without Hayden being present.

Then they told us that only one parent would be allowed in with him & I re-explained that this had been communicated ahead of time because we're going to need all the help we can get.  And the only reason I was able to reiterate that-- (not a smart thing to say in front of Hayden--) is because Hayden had sat down on the other side of the waiting room with Dan, who was now on the phone with the insurance company. Why? Glad you asked. They needed to know ahead of time which lab they could send the sample to for testing, so it would be covered.
Hashtag #ThanksForTheHeadsUp & #AppointmentsMatter

Went to a sub-waiting room for a short bit, & when they finally called us in there was one person.
Also worth noting that moments before I saw a mom & her baby exit the middle exam room, with said person, who proceeded to tell us to enter the same room. So now I’m painfully aware that the room wasn’t sanitized between them & us. We walk in & although the paper on the exam table looked like it hadn’t been touched, the chair where you sit for the blood draw had a plastic needle cap on it. I was at a Kohls recently, & they wouldn’t even call the next person up to the cashier without sanitizing the entire counter-- true story. And here we were at a blood lab within a children’s hospital on the heels of an unprecedented pandemic. Lucky for us, no shortage of sanitizer in my purse so I did my thing.

Anyway, this woman—albeit friendly, because she was—was also not getting anywhere near putting that needle in his arm. She went & got another woman to try. Same thing. So we finally asked where the others were & they said they were all at lunch. Silly us for not communicating with them ahead of time so they knew when to anticipate our arrival. (Oh, wait. Nevermind.) We did however remind them that they had told us to come in the middle of the day, to be able to accommodate him.

So the next fun part was waiting for the others to return from lunch. All of this extra wait time which should have been avoided was of course increasing his anxiety.
But it gets better.

During that time one of them saw a notation on his paperwork & asked if he had fasted. I said no he did not.  (A) I did not realize he should have, but (b) that would not be possible without being able to schedule an appointment. Also worth noting that at one point, one of them offered Hayden Lorna Doone shortbread cookies & a juice cup… to try & help him calm? I guess? And even if she didn’t know his diagnosis, she knew she just offered a snack to a kid with special needs without asking mom or dad if he can have that or you know… has allergies or something. Nothing important. (There were also sticker offerings-- I think he left with half a dozen or so.)

I calmly said no thank you to the snack & added that he has a strong gag reflex, & that when he gets upset he could throw up. Also added that he doesn’t drink juice (so they offered water). Side note, if we needed him to fast ahead of any bloodwork, even with a hypothetical appointment, one more minor complication is that we can only get his daily medication in him with food.

When everyone returned from their lunch break we were then directed to an identical exam room next door-- sanitized status unknown, but thank you for the extra transition. We love transitions. And waiting. But most importantly more than an hour after we arrived, & with the strength of 6 adults (including me & Dan) to restrain Hayden, they got the blood draw done. One of the technicians was a young, tall, strong-looking guy. He took a step back after it was done & he said to no one in particular, "he is strong." I responded with a nod, & said "we communicated this ahead of time.".  I am not so sure he heard me with all the commotion, & the people, & the face masks. Also not so sure he realized he repeated himself, but as he was still catching his breath he said again, "he is strong." I said, "yes, pediatric because he's still a minor but certainly not in size." He heard me that time & then looked at me in agreement, & I think he may have repeated himself one last time. Nice man, & I appreciate the way he approached Hayden when he walked in the room, but he was not prepared for our Hayden. (We tried to tell them.) But when you have that much solid weight of anxiety in front of you, & you drive said person into a fight-or-flight mode, you're going to get an almost superhuman strength. (A couple of years ago when we went through that particularly tough time with him, one of the days when he became very heightened & out of sorts he actually moved part of our sectional with me on it.) Hayden does not know his own strength. Separately, he also has an emotional memory though. For this & other more obvious reasons, I have already communicated to his developmental pediatrician that we need to figure out a way for him to be better assisted in the future.

In addition to Hayden yelling during the blood draw that he hates blood & "why are you doing this to me" & "why are you so mean to me".... he also communicated many times over (especially beforehand when the first two technicians attempted the blood draw on their own) that we need to call Grandma & Pop Z & tell them where we are & what's going on. He kept telling the technicians he needed to call his friend, his buddy (a.k.a. Pop Z). It seems when Hayden was in crisis today, Dan & I got demoted. 

Fast forward to us finally getting out of there, & Hayden wanted to go in Dan's car. After all, I brought him to that place so I guess he preferred his dad to take him the hell away from it. So I called Pop Z on the way home because I figured Hayden would try to call him as soon as he could. And since my dad was working, I wanted to give him a heads-up because he might not be able to answer the call-- especially because it would be video. 

Hayden ended up waiting until after a previously scheduled session with his in-home counselor this afternoon, & then he called Pop Z from his iPad. Just going to interrupt that thought for a second, because when I picked Hayden up early from school his teacher said he was all pumped up & ready for his blood test. Hayden definitely knows when there are opportunities for him to be proud of himself, & for others to be proud of him. So this is also why I wanted to share what happened today, because his conversation with my dad opened with Hayden exclaiming, "I got good news! I got my blood test! It went fine!"
He also proceeded to tell Pop Z that he's getting his COVID shot next week. Mind you this is news to us, but more power to ya kid. 

Then later, he called Grandma Suzi from his iPad to ask how her nail appointment went (which he must've heard about from Pop Z). I was within earshot & it sounded like she showed him her nails... & he said they look so good... & he wanted to know who did them... & how long it took... & then he also told her the same new-news about getting his COVID vaccine next week. Apparently. 

About that prize, by the way, his birthday is not for another month but I gave him one of the presents I had set aside. Honestly, if I had the means I might've given him an entire store today. Or an auto body shop. Something.
After everything that happened today, I just keep hearing his voice, "I got good news! I got my blood test!"
That attitude. That 's the superhuman strength right there. 

--

the only shot we have

A Sussex County resident submitted a letter to the Editor of a local newspaper, as to why she won't have the shot, and unfortunately her letter was published. This is what she wanted the readers to know. I started to research her claims because I couldn’t help myself, and this went sideways very quickly.

She numbered her five points.

1. She’s very clear that you best not tell her that mistakes weren’t made when the vaccine was developed. I would however challenge her to tell me an appropriate comparison. When was there ever a time in the history of the world (part one or part two) that all researchers from around the actual globe-- and literally during the same time period-- were simultaneously and collaboratively focusing on the development of a vaccine for the same thing.
Since the start of the pandemic when scientists and manufactures and distributors immediately began working together, in an effort that is unparalleled in history, the result was inevitably expedited. I’m not saying this to point out the obvious, but then again sometimes you just gotta.

2. She, the Letter-to-the-Editor author and self-proclaimed expert of all things related to the Covid-19 vaccine, says “the lack of properly extensive testing” is “a major risk factor”. While mRNA vaccines are a new type of vaccine, the technology of an mRNA vaccine has actually been studied for well more than a decade (they’ve been studied for the flu, Zika virus, rabies, and more). Now she may not want to hear this, but I’ll say it anyway. Many vaccines are designed to trigger an immune response by introducing a weak or inactive germ into our bodies. But unfortunately contrary to Internet memes, mRNA is not the same and does not work that way. Instead it instructs our cells to make protein to trigger an immune response, and this immune response is thankfully much smarter than self-proclaimed experts and it will produce antibodies. Antibodies are what protects people—even angry, pessimistic, accusatory people—from getting severely infected if the virus got into their system. The Covid-19 mRNA vaccines essentially instruct our cells. We’ll learn more about cells when we get to the fourth point in her worrisome display of unique knowledge. But first, we have number three.  

3. She is beside herself that vaccine developers will not be held financially accountable if things go south with an injection. It’s not clear what south means, but she does specify that “hundreds of people have already permanently gone south from the injection and their families are left with no legal recourse”. No details or even a single example of who these hundreds of families are.
So, there is technically a protection currently in place (which will I believe will last until 2024), and no it is not common for a blanket immunity law to be passed. But it was essentially a knee-jerk reaction from the pharma companies who said to the government, okay, if you want us to fast-track the development then we want you to protect us from lawsuits. It’s important to remember that the FDA approves products for mass distribution—not the vaccine manufacturers. So no, you can not sue the government if you have “permanently gone south from the injection”. This is because no one can sue the FDA for approving or not approving anything—and this was also the case before the pandemic, too.

4. She Who Will Not Be Named took that accountability theory a step further and focused on life insurance. And then threw gene therapy into the mix! After all, she says she read—she doesn’t say where, she just says she read—that insurance companies are refusing to pay out policies to the families of those that die since the vaccine is not technically FDA approved. The only thing she did get correct is that “experimental” is not the same as “emergency use” (insert me clapping my hands). However, it’s worth noting the emergency use authorizations are issued by… (drum roll)….the FDA… the same FDA who did in fact issue such use for the vaccines. While there may be other vaccines out there in the universe which are still in the experimental or investigational phase, the ones which are legally available to the public are approved for use because they were tested beyond that stage. As far as insurance companies-- and social media can pat itself on the back to take credit for this one, too-- but the spoiler alert is that her beliefs are simply not truths. And as author of this Letter to the Editor, she conveniently forgot to call her (or any) insurance company or insurance expert for that matter-- to ask if the vaccine would jeopardize coverage. (Credible online sources report that coverage is not compromised.)
As far as gene therapy—also something discussed in the dark corners of social media-- people are deciding that mRNA vaccines are exactly that. The only problem with this theory is that mRNA vaccines, including the ones for Covid-19, do not alter people’s genes in any way.  If you look up gene therapy, and also the anatomy of human cells, and the difference between DNA and ribosomes, then you will learn I am not lying.

5. She quotes a veterinarian who recently self-published a manifesto. Her argument for including his thoughts is that he’s generally a pro-vaxxer.
He may or may not be able to speak appropriately on behalf of animals, but has completely lost me as far as his knowledge of humans. A quick search revealed the masterpiece he authored has been debunked all over the web due to its chock-full-of incorrect information, and complete lack of real evidence.  

In conclusion, she wants local newspaper readers to know that she has no idea what she’s going to do. She not only mentioned that it’s also the fault of the Democrats, but in addition she finds it bizarre that it is legal to “kill a pre-born baby” but she doesn’t have the legal right to decide what goes into her body.
My first thought was how do you compare pregnancy to a highly contagious, potentially deadly disease?
But I was immediately distracted from that thought when she brought up Nazi Germany forcing citizens to subject themselves to medical experiments… and how the world condemned them for that, yet here we are doing the same thing?!

This just went from sad-but-almost-funny to what-in-the-name-of-all-that’s-holy faster than a high performance sports car going 0 to 60. She literally compared a solution to a global pandemic with the Holocaust.  I found her on Facebook and was able to see that she recently shared an article about Stacey Abrams and Nancy Pelosi being on the Board of a mysterious unnamed group that is collaborating with the Chinese Communist Party. Some extra clicking around taught me that the sources of this “news” are under the umbrella of an independent creative media developer.

So to the reader who wrote that letter to the Editor, I will say this: if you won’t protect yourself, and therefore you’re also not protecting others, then the least you can do is avoid bringing anyone down with you. Your words are nonsense because everything you wrote is either exaggerated or simply not true.

The real problem of the pandemic is not just Covid, it is also the public.
I’ve said this before in conversation but this past year is like one long journey in terrible road conditions. And I can drive with as much care and caution as I possibly can… obeying speed limits and even white-knuckling the steering wheel when navigating through particularly rough stretches. But unfortunately a major factor in my own safety depends upon the other drivers around me. Their decisions can put me, my friends, and my entirely family in danger. Their decisions can put their own friends and family in danger. Spreading falsehoods is just another example of someone who does not take the road conditions seriously.

The only shot we have at beating this is each other, and you can either hinder or help the outcome.

--

Virtual Advocacy

Wednesday, February 24th is the 2021 National Fragile X Foundation annual Advocacy Day! Needless to say, this is the first time in its history that the Event is virtual. 

For anyone on New Jersey's virtual schedule who visits this page either ahead of, or after, our meeting thank you for making the stop! 

Per the packet which was emailed to you, we are speaking about

• supporting DOD, NIH, and CDC research funding
• expanding access to telehealth
• supporting the soon-to-be-introduced STAT Act, for enacting FDA policy reforms, to help smaller populations access appropriate therapies 
• and asking members of the House to join the Fragile X Caucus 

When we refer to fragile x this includes a group of conditions related to defects on the X chromosome. For example, my late grandfather had FXTAS which causes Parkinson's-like symptoms but none of us (including him) knew why he had tremors. He was a physician but he had long since retired by the time my husband and I were expecting Hayden, and he passed away about five months before Hayden was born. At that time the awareness of fragile x was not nearly what it is now. 

Unbeknownst to anyone in my family including my mother, we learned she is a carrier of fragile x and she passed the gene to me, and that meant our son had a 50/50 chance of being born with fragile x syndrome (fxs). We did not know why Hayden exhibited global developmental delays, but he was eventually diagnosed with fxs when he was 17 months. Fragile x syndrome is not only a genetic condition but it is also the most common inherited form of intellectual impairment. And so far, it is the only known single gene of cause of autism when there is a dual diagnosis. (While a very small percentage of individuals with autism also have fragile x, at least a third of individuals with fragile x also have autism.) Fragile x syndrome not only causes learning challenges but also behavioral issues, sensory processing disorder, low muscle tone, and difficulty with fine and gross motor functions. 

Our guy loves cars and trucks, and working with tools, and playing outside. He has a recumbent bicycle with a hitch and trailer, and he loves riding up and down the street or around the yard making trips to and from his shed. While we have experienced some very significant behavioral challenges, most often Hayden is just a loving person. He has a whole lot to offer in a world that has a lot to learn from him.

While I have been a little off course in recent years as far as keeping my blog updated (and I currently have three unpublished posts that are still drafts in progress), I will come back from time to time. It is my goal to share the good, the bad, and also some things in between because I'd rather the world hear it from me first. 

I hope you'll stop back and visit again soon!