In honor of
Fragile X Awareness Month, I want to provide a better perspective of
how this fragile x gene can literally be hidden for generations. And how we came to learn about it.
This is the continuation of my post about the 22nd. As mentioned in Part One, here is the letter which until now has only existed in my thoughts:
---
Dear Poppy,
I miss you all the time. I miss all of my grandparents. I do find some comfort knowing you & Grandma are together now just as I did when Grandma Phyllis passed-- knowing she was reunited with Poppy Shoore-- but sometimes everything feels too fresh.
As I believe you know, Hayden was born about five months after you passed away. You might not know this part, but you two share a very special bond.
If you think back to when your tremors began you probably recall that things like writing or holding a utensil became very difficult for you. Even though we already had an answer that it was definitely not Parkinson's, the doctors weren't sure what was causing the tremors. And for you, a retired physician yourself, this was most bothersome.
Eventually the diagnosis was excess fluid on the brain, a part of the natural aging process & not too uncommon. And as the years went on & the rest of your body was increasingly affected until your ability to walk had nearly diminished, none of us had any idea whatsoever just how important of a clue this really was.
It was evident early on in Hayden's life that he was delayed, but it seemed nothing more than that. He was a big baby... I remember telling Grandma when the Pediatrician said his height (length) was off-the-charts. She replied, "Well then tell them to get a new chart!"
I could summarize a timeline of Hayden's delayed milestones for you, but those specifics are not what I want to focus on. In November of 2006 he tested positive for Fragile X. Fragile X Syndrome is an inherited form of intellectual disability, & a condition that causes various learning & behavioral challenges.
After we learned about the genetic pattern of fragile x we traced it back, & this may have been what your brother was born with. (I did not even realize that you & Aunt Bevy had a brother.) You were a carrier of the gene & unknowingly passed it on in a carrier form, to all three of your daughters including my mom of course. That means for me, Jenna, Ben, & Jessie there was a 50/50 chance of the gene being passed.
You did not pass it on to Uncle Irl because the defect is on the x chromosome (hence the name). Therefore, there was no chance of this being passed to Jackie, Max, or Justin.
When I had a blood test following Hayden's results, we actually learned that I am not just a carrier. When the breaks (or repeats) on the x chromosome exceed a certain range, that is an indication of the full mutation of fragile x.
Sometimes in females, since we have two x chromosomes, our healthy x chromosome will compensate. That is what happened with me.
In the first part of this blog post I joke how it would hardly take the birth of a royal baby for me to remember the 22nd. Not just because July 22nd is National Fragile X Awareness Day-- but also because the #22 has specific meaning to me.
There is one more fact about this number which I hadn't mentioned yet.
Apparently via blood tests we can also determine the percentage at which a healthier x chromosome is compensating. You can guess on the number they came back with... keep in mind, it's the dominant percentage.
Yes, my other x is compensating at 78%. So the remaining 22% is a different story (I'm typing with a smirk).
Poppy, your tremors were a result of something called FXTAS (pronounced 'fax-tas'). This is an acronym for Fragile X-Associated Tremor/Ataxia Syndrome. This is something that male carriers of fragile x develop later in life.
Throughout these past 6 1/2 years or so, since Hayden was diagnosed, I have gone back & forth in my mind countless times. While I wish so, so much that Dan & I starting a family could have given you some sort of closure before you passed-- (I mean for yourself & why you had tremors--) there is a part of me that fears I may have simultaneously broken your heart just a little bit. I think about just how much you wanted a great grandchild* & I would always be worrying if you truly remained at peace.
I want to tell you that even on our absolute toughest of days, you need not worry... & I mean that. First of all, Hayden is otherwise very physically healthy. He is thriving & he is strong... but most importantly... you must know that he is genuinely happy. He has always worn a smile well.
All he knows is that he has a family who loves him, provides for him, & supports him. He has Grandparents who dote over him, Aunts & Uncles who cherish him, cousins who adore his company (& that number is growing!)... & he is generally quite content. And I should mention his teachers & other people who work with him truly think the world of him, & they have about as much motivation as we do to see him succeed in life. I honestly believe that.
He is growing up in a borderline-rural town where more people probably know him, than us. This is home to him & it's evident he finds comfort in that.
We love you very much & we too are comforted, knowing Hayden has so many angels watching over him.
xo
---
I wanted to share this to give Fragile X Awareness Month the attention it deserves.
Thank you for reading :)
-
Clouds, May 2010
Thursday, July 25, 2013
Wednesday, July 24, 2013
the 22nd
I had no idea that Will & Kate were formally known as William & Catherine Mountbatten-Windsor. Mountbatten-Windsor? (And growing up I thought Zamelsky was a mouthful.) That aside, since the royal baby was in fact born on National Fragile X Awareness Day... it is my humble opinion that somebody over there in that Palace should have at least given our FX community a shout-out. That would definitely help raise awareness!
It would hardly take the birth of a Prince for me to remember "22"... that number has actually had significance to me for a long, long time. Right before I started Kindergarten we moved into house #22, & that is where my sister & I grew up. And not too long after my parents moved out of that house, my son entered this world on the 22nd of June.
And most recently I now know the 22nd of July as The official National Fragile X Awareness Day-- that day is actually recognized as such by Congress.
During the rest of Fragile X Awareness Month (otherwise known as July), the social media sites I use have been flooded with awesome & informative fragile x facts. I particularly love the photos of everyone within the FX community, & outside supporters alike, showing off their green fragile x attire :)
I joined the latest fundraising campaign as well, & although my page has unfortunately not met its goal (hint hint)... the New Jersey team as a whole has kicked some serious ass! The Fragile X Association of NJ is well in the lead of the Virtual 5k Event with more than $6,700 raised so far!
Personally I have been slightly distracted as far as raising awareness this month, with the sort of gusto I would normally exhibit.
June came & went on the most bittersweet note, with my son's 8th birthday being right on the heel's of my grandmother's passing... and... learning that my sister is expecting (which my heart has not stopped smiling since I heard the news)... truly <3
But in the moment this is back-to-back with the 4th of July holiday, & then began the annual surplus of July birthdays in our family... including my mom who had of course just lost her own mom...
But she was also saying goodbye with barely any proper closure, to her entire teaching career... because as life would have it, her retirement was happening simultaneously...
And might I add, as Hayden's summer program began we've also been exploring additional childcare with much-needed consistency, so we can both balance work/home schedules better... translation: serious stress on me as I am coordinating services with a special needs agency, & learning to put my trust into a complete stranger...
And speaking of working with someone new, Hayden's school also assigned a Behaviorist to his case... & this person who is supposed to be part of his summer curriculum has so far only contributed with a complete inability to properly communicate, or adhere to scheduling.
I think that's about it.
Well, except for the incident with my eye last week, which I could not properly describe without its own blog post or something. But long story short, H accidentally poked me in the eye with a screwdriver. (It is going to be okay... the corneal abrasion has healed & the blurriness is clearing up a little more each day.)
So, no. I have not given Fragile X Awareness Month the attention it deserves. Not that any awareness should ever be limited to an occasion, but this does deserve the proper attention. I will attempt to make up for that.
I am going to begin by sharing a very personal letter to one of my beloved late grandfathers... a letter which has only previously existed in my mind. But it will explain things quite well.
To be continued tomorrow...
---
It would hardly take the birth of a Prince for me to remember "22"... that number has actually had significance to me for a long, long time. Right before I started Kindergarten we moved into house #22, & that is where my sister & I grew up. And not too long after my parents moved out of that house, my son entered this world on the 22nd of June.
And most recently I now know the 22nd of July as The official National Fragile X Awareness Day-- that day is actually recognized as such by Congress.
During the rest of Fragile X Awareness Month (otherwise known as July), the social media sites I use have been flooded with awesome & informative fragile x facts. I particularly love the photos of everyone within the FX community, & outside supporters alike, showing off their green fragile x attire :)
I joined the latest fundraising campaign as well, & although my page has unfortunately not met its goal (hint hint)... the New Jersey team as a whole has kicked some serious ass! The Fragile X Association of NJ is well in the lead of the Virtual 5k Event with more than $6,700 raised so far!
Personally I have been slightly distracted as far as raising awareness this month, with the sort of gusto I would normally exhibit.
June came & went on the most bittersweet note, with my son's 8th birthday being right on the heel's of my grandmother's passing... and... learning that my sister is expecting (which my heart has not stopped smiling since I heard the news)... truly <3
But in the moment this is back-to-back with the 4th of July holiday, & then began the annual surplus of July birthdays in our family... including my mom who had of course just lost her own mom...
But she was also saying goodbye with barely any proper closure, to her entire teaching career... because as life would have it, her retirement was happening simultaneously...
And might I add, as Hayden's summer program began we've also been exploring additional childcare with much-needed consistency, so we can both balance work/home schedules better... translation: serious stress on me as I am coordinating services with a special needs agency, & learning to put my trust into a complete stranger...
And speaking of working with someone new, Hayden's school also assigned a Behaviorist to his case... & this person who is supposed to be part of his summer curriculum has so far only contributed with a complete inability to properly communicate, or adhere to scheduling.
I think that's about it.
Well, except for the incident with my eye last week, which I could not properly describe without its own blog post or something. But long story short, H accidentally poked me in the eye with a screwdriver. (It is going to be okay... the corneal abrasion has healed & the blurriness is clearing up a little more each day.)
So, no. I have not given Fragile X Awareness Month the attention it deserves. Not that any awareness should ever be limited to an occasion, but this does deserve the proper attention. I will attempt to make up for that.
I am going to begin by sharing a very personal letter to one of my beloved late grandfathers... a letter which has only previously existed in my mind. But it will explain things quite well.
To be continued tomorrow...
---
Friday, July 5, 2013
my, what big teeth you have.
-->
Well, July happens to be Fragile X Awareness month & I have a recent story which will give some thorough insight as far as the challenges our kids face.
We had a very difficult experience at the dentist earlier in the week, & I was so emotional about it I was barely talking about it.
Hayden has only ever been to one dentist, & we were always very happy with this particular Practice. It wasn't until our last visit (before this one) that we had a bad experience, which was mainly a scheduling mistake.
But the situation this week has helped me to definitively decided to switch. Luckily we have the most incredible Pediatrician possible (seriously) & he already had given us the name of someone else.
So when we received one of those automatic survey emails I decided to take the opportunity to reply:
"To Whom It May Concern,
Our son is 8 years old, & Dr. E is the only dentist that we have ever brought him to.
Several years ago at our very first visit, Dr. E approached us in the waiting area to say hello. He introduced himself to us & to our son, & seemed very caring.
Our child has special needs including sensory processing disorder as well as anxiety. He can also be tactile-defensive particularly when his anxiety is heightened, & probably the most vulnerable area to him would be his mouth. He had speech apraxia through age 5, & continues to exhibit oral motor challenges. As a result of the aforementioned, he also has a strong gag reflex.
He has a hidden disability called Fragile X Syndrome. He does not have autism, even though that is a better-known hidden disability… & even though about 1/3 of people with FX also have autism… our son happens to not be on the spectrum.
His needs should not necessarily be met the same as a child with autism. I would rarely ever suggest that someone should approach treating (or working with) our son in that way. He is very social. He wants to get to know people, he wants to like them, & consequently people often agree he is quite easy to love.
Dr. E was always very understanding & didn’t seem to mind when Hayden cried during a dental visit. He used to say, “it’s OK… when they get upset I can see in their mouth better.”
I remember the first time that our son accidentally threw up because he was crying so much & has such a strong gag reflex… & the reason I remember this, is because they caught it with a little pan, wiped his mouth, & kept going like it was no big deal.
However he did ask us what the “green stuff” was, so I explained it was a spinach omelet from his breakfast. With that, Dr. E said make sure they book you an appointment an hour earlier so you can skip breakfast when he sees me. They wrote “No Food” on our appointment reminder.
For some reason the next appointment had to be rescheduled, & all I remember is that I clearly explained to the person I was speaking with about the importance of our son having the earliest appointment possible & only with Dr. E (consistency can also help curb our son’s anxiety).
Apparently when this person rescheduled our appointment, she made it on a day when Dr. E does not typically take his first patient until 9am. But our appointment was at 8.
Apparently Dr. E showed up for work early that day, or maybe he is usually in the office an hour before, but we didn’t know this. So when he looked at us in surprise, we thought he was just kidding around.
The only thing worse than calming our son down for a dentist appointment, is making him go twice in one day. We were actually asked to leave & to come back at 9. Our son was trying very hard to control himself & quite honestly it broke our hearts.
We were furious over the scheduling error, but pulled ourselves together to get through it so we could come back in an hour & get the appointment over with. We drove up the road to Walmart, mainly because nothing else was open yet, & tried to cheer our son up. But his nervousness barely settled.
Again, Dr. E is the only person our son has ever known to look at his teeth. And we never, ever had a negative experience before that. And ultimately for the most part, the appointment was OK… he was crying but he got through it. Luckily he has good teeth-- that’s what we’ve always been told.
But I still can’t imagine the amount of self-control & bravery it took for my son to go up to Dr. E’s office twice in the same morning.
Waiting is quite possibly one of the single most difficult things for many children with FX. Likewise, prolonging something poses a similar challenge because transitions can be an anxiety trigger.
This is the type of information I share with anyone working with our son.
So imagine our confusion when we arrived at our appointment the other day, & the staff said they wanted to make sure that our son had a few minutes to calm down before Dr. E came in. I looked at the woman behind the desk & said, “I hope not for long? That is definitely going to heighten his anxiety.”
It was later explained to us that this was the note in his file. I have no clue who put that there or why... but I do know as sure as I know my own name that I never, ever would’ve suggested that.
The few minutes we were in the exam room with our son before Dr. E came in-- the supposed “deliberate” wait time-- basically pushed our child to the limit. Distraction techniques often work wonders with him, & I tried explaining this to Dr. E. I suggested he talk about something else or tell my son a story— ANYTHING besides narrating what he was doing to his mouth!
Dr. E responded with, “I was never really good at that.” But he tried, for a few seconds, to tell a make-believe version of the Three Bears. For a moment there I appreciated the effort, but by that point it was too late to help our son regulate his emotions.
It was becoming increasingly tougher to hold our son still, & his cry was becoming that much louder. This time when he started to choke from his sobbing there was no tray to catch anything, & our poor kid basically swallowed what was starting to come up.
With that, Dr. E literally stood up & said, “I am not going to torture him & just have him throw up all over my floor. I can’t do this.” And then he left. He left us in the room with our son pinned down in the exam chair by both his parents.
Our son’s name is Hayden. He likes to please people. He likes to know that they’re proud of him… his family, his teachers, & yes, even his doctors. We have certainly found some gems to work with him & care for him, & for this we are inexplicably grateful. And we hold onto the good ones— the right ones— for dear life. We let them know just how much they’re appreciated.
I think Dr. E has a good heart & he means well, & I think there’s a reason he has such a successful practice. And I am glad for him that he has a loyal patient base.
But the way we were treated these last two visits— especially this most recent one when he actually stood up & left the exam room— is inexcusable.
Best of luck to you, personally & professionally."
---
We had a very difficult experience at the dentist earlier in the week, & I was so emotional about it I was barely talking about it.
Hayden has only ever been to one dentist, & we were always very happy with this particular Practice. It wasn't until our last visit (before this one) that we had a bad experience, which was mainly a scheduling mistake.
But the situation this week has helped me to definitively decided to switch. Luckily we have the most incredible Pediatrician possible (seriously) & he already had given us the name of someone else.
So when we received one of those automatic survey emails I decided to take the opportunity to reply:
"To Whom It May Concern,
Our son is 8 years old, & Dr. E is the only dentist that we have ever brought him to.
Several years ago at our very first visit, Dr. E approached us in the waiting area to say hello. He introduced himself to us & to our son, & seemed very caring.
Our child has special needs including sensory processing disorder as well as anxiety. He can also be tactile-defensive particularly when his anxiety is heightened, & probably the most vulnerable area to him would be his mouth. He had speech apraxia through age 5, & continues to exhibit oral motor challenges. As a result of the aforementioned, he also has a strong gag reflex.
He has a hidden disability called Fragile X Syndrome. He does not have autism, even though that is a better-known hidden disability… & even though about 1/3 of people with FX also have autism… our son happens to not be on the spectrum.
His needs should not necessarily be met the same as a child with autism. I would rarely ever suggest that someone should approach treating (or working with) our son in that way. He is very social. He wants to get to know people, he wants to like them, & consequently people often agree he is quite easy to love.
Dr. E was always very understanding & didn’t seem to mind when Hayden cried during a dental visit. He used to say, “it’s OK… when they get upset I can see in their mouth better.”
I remember the first time that our son accidentally threw up because he was crying so much & has such a strong gag reflex… & the reason I remember this, is because they caught it with a little pan, wiped his mouth, & kept going like it was no big deal.
However he did ask us what the “green stuff” was, so I explained it was a spinach omelet from his breakfast. With that, Dr. E said make sure they book you an appointment an hour earlier so you can skip breakfast when he sees me. They wrote “No Food” on our appointment reminder.
For some reason the next appointment had to be rescheduled, & all I remember is that I clearly explained to the person I was speaking with about the importance of our son having the earliest appointment possible & only with Dr. E (consistency can also help curb our son’s anxiety).
Apparently when this person rescheduled our appointment, she made it on a day when Dr. E does not typically take his first patient until 9am. But our appointment was at 8.
Apparently Dr. E showed up for work early that day, or maybe he is usually in the office an hour before, but we didn’t know this. So when he looked at us in surprise, we thought he was just kidding around.
The only thing worse than calming our son down for a dentist appointment, is making him go twice in one day. We were actually asked to leave & to come back at 9. Our son was trying very hard to control himself & quite honestly it broke our hearts.
We were furious over the scheduling error, but pulled ourselves together to get through it so we could come back in an hour & get the appointment over with. We drove up the road to Walmart, mainly because nothing else was open yet, & tried to cheer our son up. But his nervousness barely settled.
Again, Dr. E is the only person our son has ever known to look at his teeth. And we never, ever had a negative experience before that. And ultimately for the most part, the appointment was OK… he was crying but he got through it. Luckily he has good teeth-- that’s what we’ve always been told.
But I still can’t imagine the amount of self-control & bravery it took for my son to go up to Dr. E’s office twice in the same morning.
Waiting is quite possibly one of the single most difficult things for many children with FX. Likewise, prolonging something poses a similar challenge because transitions can be an anxiety trigger.
This is the type of information I share with anyone working with our son.
So imagine our confusion when we arrived at our appointment the other day, & the staff said they wanted to make sure that our son had a few minutes to calm down before Dr. E came in. I looked at the woman behind the desk & said, “I hope not for long? That is definitely going to heighten his anxiety.”
It was later explained to us that this was the note in his file. I have no clue who put that there or why... but I do know as sure as I know my own name that I never, ever would’ve suggested that.
The few minutes we were in the exam room with our son before Dr. E came in-- the supposed “deliberate” wait time-- basically pushed our child to the limit. Distraction techniques often work wonders with him, & I tried explaining this to Dr. E. I suggested he talk about something else or tell my son a story— ANYTHING besides narrating what he was doing to his mouth!
Dr. E responded with, “I was never really good at that.” But he tried, for a few seconds, to tell a make-believe version of the Three Bears. For a moment there I appreciated the effort, but by that point it was too late to help our son regulate his emotions.
It was becoming increasingly tougher to hold our son still, & his cry was becoming that much louder. This time when he started to choke from his sobbing there was no tray to catch anything, & our poor kid basically swallowed what was starting to come up.
With that, Dr. E literally stood up & said, “I am not going to torture him & just have him throw up all over my floor. I can’t do this.” And then he left. He left us in the room with our son pinned down in the exam chair by both his parents.
Our son’s name is Hayden. He likes to please people. He likes to know that they’re proud of him… his family, his teachers, & yes, even his doctors. We have certainly found some gems to work with him & care for him, & for this we are inexplicably grateful. And we hold onto the good ones— the right ones— for dear life. We let them know just how much they’re appreciated.
I think Dr. E has a good heart & he means well, & I think there’s a reason he has such a successful practice. And I am glad for him that he has a loyal patient base.
But the way we were treated these last two visits— especially this most recent one when he actually stood up & left the exam room— is inexcusable.
Best of luck to you, personally & professionally."
---
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