Advocacy Day 2013

Wow.  I'm still in awe of how amazing the past couple days were.  I was excited for this, I knew what an amazing experience it would be - but I was not prepared for how much more it would be than what I expected.

I arrived in DC on Tuesday and met up with my roommate at the airport.  A small thing that I am so thankful for!  I had a small knot in the pit of my stomach from the second I left the kids and Mr Awesome at the airport.  Having a buddy to travel to the airport with and eat lunch before training really helped.  I was feeling much better by the time I walked into training - but began to fall apart [inside] shortly after.  Shortly after training started we were asked to introduce ourselves five different times in five different ways to someone else in the room that we had not met before.  Each way was specific - but it also put me entirely out of my comfort zone.  (as if I wasn't already).  By the time the five introductions were complete, I sat back down in my chair ready to vomit from anxiety.  Thank goodness I had time to recover and focus on training for a while before I had to speak or move again.  I had just about recovered when break time happened, and then forced myself to do a couple more things that kick started my anxiety yet again.

First, I hunted down the amazing Tracy and Mouse from Developmental FX.  These two women are amazing.    I've used their articles so many times to help with problems with Ayden and even to hand out to his teachers/school.  I introduced myself, told them a little about Ayden and asked if I could pick their brain later on a couple things.  They most graciously offered me their card and told me to call them if we didn't run into each other again over the next day or two.  This moment right here alone made my entire trip worth it.  If everything else had gone poorly and I had a terrible time (which was NOT the case at all) it all would have been okay because of this.

Second.  Well, I don't need to say anything about this other than I still cannot believe I agreed.  Yeah, that's me with the big green X.  (Thanks, Melissa  :P)

Training finished, and we broke into groups for dinner.  I had met the lovely Kathleen of My Son's a 'retard'! whom I had been following her blog since advocacy day last year during those five introductions I talked about above. She had invited me out to dinner with the group she was with.  Thankfully, there was a cash bar after training so I was able to enjoy a nice glass of wine to help with my anxiety before dinner.

Dinner itself that night was...let's go with "undesirable".   The company was outstanding, the food and restaurant not so much.  Let me just put a small sample of the menu - and make sure to pay close attention to the highlighted dishes in this picture:

The next day was the reason I was there.  As the evening before progressed, essentially every single flight out of DC was cancelled for Wednesday because of the impending snow storm.  Some channels were predicting 12-14 inches of snow.  By 4 am, the federal government was officially closed.  At 7 am - we received a call from Congressman Harper who had graciously scheduled a tour of the house floor for us.  Congressman Harper also has a son with Fragile X Syndrome - he takes especially good care of our Advocacy groups while in DC each year.  We were advised by him to head to the Capitol and that our tour was still on - so off we went!

Our first stop was a tour of the House Floor - a place not open to the public.  We were not allowed to take any pictures or anything really into the room itself.  The amount of history in that one room is just utterly phenomenal to sit and think about.  Congressman Harper talked about the 1954 House Chamber Shooting and showed us the actual table that was damaged during the incident.  (Which I was sitting one desk over from - the bullet hole still in the drawer and repair marks on the surface of the table quite visible).  He also talked about how President's Roosevelt's speech on December 8, 1941 was made in that very room.  There were other things talked about, but those were some of the highlights.  On our way to our first meeting, I was able to visit Statuary Hall and see the newly unveiled Rosa Parks statue as well.

At some point during the morning, it was decided to run a condensed version of our scheduled appointments.  This meant that we were to head to each Senate and House office that we were assigned to and request an early appointment.  I personally met with staff members from the offices of Bill Huizenga, Daniel Kildee, Mike Rogers, John Conyers, and Sander Levin.  Our group also met with staff members from Dan Benishek, Fred Upton, and Gary Peters offices.  For the other six representatives we left a packet of information about Fragile X and the different things we were requesting their help with.  On the senate side, we were able to personally meet with Senator Levin for almost an hour.  Turns out the "snow storm" was a blessing in disguise for us because so many offices had meetings cancelled and time to meet with us.

The meetings them-self were so incredibly amazing.  I've never felt like my voice has really been heard in the government even though I do my part and vote.  This though, was not like that at all.  It was such an amazing, empowering feeling to leave those offices knowing that we actually were making a difference.  Seeing the person we were meeting with become interested and start asking questions..well, it was awesome.

Our day at the Capitol ended as the House was voting to extend their pay freeze and uphold the current sequester until September 30 (end of the fiscal year).  It was quite something to be sitting in Dan Kildee's office with his Chief of Staff watching the house members vote in the room I had just been sitting in earlier that day.

I ended the actual day at a dinner with a whole lot of other Fragile X families - something not in short supply while I was in DC!

Following dinner, I headed to the National Mall to visit many of the memorials and monuments with some of my new friends - a must for my first time in DC.  You'd think visiting these places at night wouldn't be as awesome, but I'm fairly certain it was the best possible time to go (in spite of the cold).  It's humbling and breath-taking to see and I was very thankful the weather had cleared enough for me to go.

There was just so much that happened while I was there, and I wanted to make sure I really covered the reason I was there.  I would be leaving out a huge part of my time there though to not talk about all the amazing people that made up this day who also took time to do the same thing I was doing.  There were around ~180 other parents, family, friends, and self-advocates for people with Fragile X with us and they are the MOST AMAZING group of people I have ever been a part of.  We are very alone in the aspect that until recently I have not even met another family living with a child with Fragile X (since knowing about it) and in two days I met more than I can count.  People that are eager to share ideas about their kids and happy to hear about yours - especially the bad!  Mom's who share this carrier status - and make you feel normal when you're around them (instead of like the crazy one).  Even though I was more than ready to return home to my family, my X-Family as I'm going to call them have been missed every second since I walked out of breakfast yesterday morning.   I am counting down the days until I am able to see them again.

Read More...

When Your RAWR Goes Silent: Part 1

This is the second of a series of guest posts by my friend Marie at All Things RAWR.  I have had the privilege of seeing her help and inspire so many people and just be a positive light in this world when the world certainly gave her a reason not to shine.  I asked her to write on a couple other topics related to [Fragile X] carriers, as I mentioned this is the second in the series.  Read her first one here:  Grief:  The Silent RAWR.  I hope you are all as inspired and touched by her words as I am.


A slight rustling in the grass as just a few blades shift, sounding like the wind. Without noise, without fanfare, it slithers into your midst unbeknownst to you. Slowly it winds around you, surrounding you with the cloak of normalcy. Then it starts to squeeze. With growing force, it closes in on your world, it's grip starts to tighten. It's presence clouds your mind and darkens your heart. Slowly, like a constant leaking drip, it leaches your passion and motivation. It smothers your love. It fills your perspective with tears and hisses at positive thoughts. Slowly strangling your happiness, the snake of depression takes over your life, squeezing out the 'real' you. Quietly, depression strangles your RAWR into silence.

Depression is a complicated and fickle creature. Moving into your consciousness with the stealth of a snake, depression can quickly devour and consume a seemingly healthy, happy person. What makes it harder to catch and eradicate is that depression can come at you from many directions.

Part 1: The physical snake : Lack of sunshine

My first bout with depression was the year my family moved to Fairbanks, Alaska. I was 7 and had spent my entire life in sunny states when the military called us to the great white North. We arrived in the summer during the long days when the sun barely drops below the horizon. With amazing speed, the sun disappeared, plunging us into perpetual darkness. It wasn't long before my little self felt the effects of no sun. My emotional stability turned into quicksand. I slept more than usual. I also learned the bad habit of emotional eating to feel better. At the time, the technology wasn't there to support Vitamin D deficiencies and what is now known as SAD. Recognizing the changes in all of us, my mom would diligently fill up spray bottles (yes, mine was magenta) with food colored water, bundle us up and send us outside to art up the yard until it got dark.

(Tip: do not fill spray water bottles with yellow water. You'll wonder forever which was the kids vs. the dog.)

Life without the sun is no joke. There are people on this earth who can tolerate it better, but only with the right diet and genetics. However, we all need sunshine to hit our eyeballs every day. The sun is a key component to the music of our DNA and controls many metabolic functions, including queing in our serotonin and melatonin. Without those cues to our system, our body won't function properly. We'll feel "off", more tired, more hungry, more irritable. That's the start. Too long without enough sunshine and we break down.

There are many therapies designed to help combat those effects and employed with great force in the darker regions of the world. Happy lights, tanning beds, vitamin D supplements, gyms and more are available to combat the lack of sunshine. One simple therapy shared by Deborah Burnett is to have a bright, blue kitchen that you spend time in every morning between 9-11am. The key here is the light bulbs should have a higher Kelvin temperature range and so their light is bluer/ whiter. Cool White is often a key to the higher spectrum.

My other favorite anti-dote is one my mom knew instinctively: exercise. Exercise releases serotonin, endorphins and other "feel good" hormones. When done at the right time of day (before 3pm), exercise can reduce the impact of depression. Breaking a sweat helps to release all of your internal "piss and vinegar" as Raul likes to say, not only boosting your body but also your mind.

If you recognize yourself in any of the above, we encourage you to speak with a health professional. There are many resources out there to help you cope with and overcome depression. Seasonal Affective Disorder and Vitamin D deficiencies exist and there are tools out there to help you.

Read More...

Grief: The Silent RAWR

I'm so excited to be sharing the first of a series of guest posts by my friend Marie at All Things RAWR.  I have had the privilege of seeing her help and inspire so many people and just be a positive light in this world when the world certainly gave her a reason not to shine.  I asked her to write on a couple other topics related to [Fragile X] carriers, and she hit me with this first -- a post that quite literally brought me to tears.  I hope you are all as inspired and touched by her words as I am.

Grief. Loss. I am not a fan of those words for so many reasons, but they hold weight over us in a way that few other words are capable of. 

Searching for clovers and finding peace

Grief we feel, loss is what we almost had or had once upon a time. Beyond the letters themselves, there are few other words that can adequately describe to another human being what grief feels like. Wanting someone to understand grief without experiencing a loss is, in my humble opinion, darn near impossible. What is also striking is that the loss or reasons for grief can vary dramatically from person to person but the depth of pain, hurt and fear knows no bounds.

Whether you've lost a friend, a grandparent, a parent, a spouse, a child, a fur-baby or any other being or maybe even a job or the dream of a future, it hurts. It hurts a lot. It feels like your heart has literally been shattered into pieces, left in broken tatters. You wonder how you haven't died from a broken heart…yet. You wish you could go with them just so the pain will stop. You wish you could turn back time to when that future was possible. Each breath hurts. Each smile takes pain to crack. Some days you wonder how you will ever carry on. 

I say carry on because moving on is not possible. You will never forget, not for a day, rarely for a moment. Moving on, getting over it, letting it go, growing up, all of those mean words imply forgetting. You can't forget. Forgetting is not an option. Carrying on is. When you carry on, you carefully and compassionately pick up the pieces of your broken heart (oftentimes with help) and with a brave face, move into the next present moment. You carry your loss with you, in your heart. The scars on your heart make you stronger. If you allow it, the cracks in your heart let love sweep in and out like the ocean waves. 

Grief hits your insides like waves, sometimes a large wave tumbles over you when you least expect it. Sometimes you brace for impact only to find the wave barely crossing your toes. To lessen the waves of grief, there are things you can do. There are tools to help you find and pick up those broken heart pieces. 

When faced with a wall of grief and a shattered heart, it is time to mourn. Mourning is the work you do to process the grief. Mourning takes many outward forms: crying, writing, crafting, talking, sharing and so many more. Mourning is what saves us. 

You will mourn not only the past and the present but also the future. Honoring the future you thought you had by acknowledging the present you've been given requires a strength that feels impossible to summon at times, but is absolutely possible. 

If any of the above strikes a chord with your heart, I encourage you with all of mine and all of my RAWR to find a HEALTHY outlet for your grief. Many people turn to destructive behaviors which will only cause more pain and suffering. It takes strength to talk to a friend, go for a walk, cry, smile, write, sing, play, work, create, and mourn. 

Just when you think you can't go on, you can't possibly be strong enough to [insert mourning activity here], that is the moment to think of your loss. Feel the love you had for that person or dream. It is in that love that you will find the strength to carry on. 

I carry on. I am a survivor of grief. I mourn. I mourn on a daily basis. This post is my mourning. This post, and so many other moments of mourning are what saved me. What moments of mourning have or will save you? 

Read More...

I Heart Faces | Best Face of 2012

Just want to note that while my blog is primarily Fragile X related, a lot of photography posts are going to start popping up this year too.  This is something I'm adding in for my mental health, a little getaway from the challenges of living with Fragile X and just being a mom in general.  I've come to realize that taking care of my mental well being is very important to caring for my kids and even more critical being a Fragile X carrier as we tend to be more prone to depression and anxiety.  Hopefully ya'll will keep reading and enjoying!

Since I'm working on my photography this year, I've been following a few other photography blogs.  I ran across one this past week that I'm very in love with.  They host photo challenges, and since I am participating in that nice photo-a-day thing - well, it seems like a fun thing to enter!

This photo challenge is called Best Face of 2012 and requires an image from 2012, so an old imagine instead of one of the newer ones I've been taking.

It's not my best from 2012, but certainly one of my favorites!

As always, remember to follow via RSS, Twitter, and Instagram as well as like on Facebook if you're interested or enjoy my posts!  Either directly from those links or from the buttons at the top of the page.

Read More...

I Am One.

I am one.
One in 260.

One in 260 women are carriers of the Fragile X Premutation.  To put that a bit in perspective...the average Facebook user has 245 friends.   So, there is a very high chance someone you are friends with on Facebook is a Fragile X carrier.

But have you ever heard of it?  
Approximately one-million Americans carry the Fragile X mutation, including approximately 100,000 with Fragile X Syndrome and are at risk for developing a Fragile X-associated Disorder.

Could that one be you?
Approximately 1 in 260 females and 1 in 800 males are carriers of the Fragile X Premutation.  Many of those carriers go undiagnosed until they have a child, niece, or nephew with a full mutation.

Has one of your grandparents or parents been diagnosed with Parkinson's?

Studies report that approximately 1/3 (33%) of all men over 50 years of age and 5%-8% of women with the Fragile X premutation will develop symptoms of FXTAS. 

Do you or any of your female relatives have fertility issues?

Approximately 20-25% of women with an FMR1 premutation will develop FXPOI. FXPOI covers a range of ovarian difficulties including early menopause, irregular menstrual cycles, infertility, sub fertility and premature ovarian failure (cessation of menstrual periods prior to age 40)

Is there a prevalence of fibromyalsia or auto-immune disorders in your family?New research is showing the prevalence of Auto-Immune disorders such as hypothyroidism and fibromyalsia in Fragile X premutation carriers.

Have one or more people in your family been diagnosed with Autism?

Fragile X Syndrome is the most common known genetic (“single gene”) cause of autism.  Autism affects 1 in 88 children and around 2-6% of those affected have Fragile X as well.

Awareness is such an important thing with Fragile X because it isn't just something that affects you - it is genetic and passed from father to daughter, mother to child.  As it's name suggests - it travels on the X chromosome and may not develop into a full blown mutation for generations.  Today, July 22, is National Fragile X Awareness Day - a perfect day to share or learn more about Fragile X.

To learn more - visit the National Fragile X Foundation, FRAXA, or the CDC.

Read More...

Awareness Day: 2012

July 22 is a day that is very special to me for a couple of reasons. First, it's my anniversary, and each year with Mr Awesome is certainly a reason to celebrate!! Second, it is also National Fragile X Awareness Day. For those that are paying attention...you will know that Fragile X Syndrome is a genetic disorder that I am a carrier of and two of my kids (as well as countless number of other family members) are affected by.

To help raise awareness, the National Fragile X Foundation has put together a Facebook event for this day.I would more than appreciate your support and help raising awareness if you could go to the event and "attend". By simply attending and having the event cross your newsfeed you may be reaching even just one person who has never heard of Fragile X before. Awareness is so very important to this disorder that is among other things the #1 known genetic cause of Autism yet so many people have never even heard of it! Thank you so much to all of you who take the few minutes to do this - remember, just ONE person can make a difference and today that person could be you.

Here is a link to the public event on Facebook:  http://www.facebook.com/events/122412367896486/

Read More...

Where Have We Been?

Seems like 2011 keeps finding ways to knock me down, but I keep on getting up!

My newest adventure involves yet another trip to the emergency room followed by another surgery.  I was fine last Saturday morning even participating in the JDRF walk with my nieces' team and spending the afternoon with family.  By the time 7 PM hit though, I was in so much pain I could barely move - abdominal pain is nothing to joke about under normal circumstances, but being pregnant, I called my OB who had me come in to get checked out.  I was hoping it was just that I have over-done it like my OB suggested at first, but I was fairly certain that was not the case. 

Luckily baby was dong perfectly fine, and we found a nice strong heart beat right away.  No contractions.  No bleeding.  Lots of abdominal pain though!  They quickly rule out any type of bladder or kidney issues and by the time my blood work came back it was not a surprise to see an elevated white blood cell count.  I was admitted overnight and sent to ultrasound to check for appendicitis.  The ultrasound was inconclusive (and very painful I might add) as they couldn't find my appendix.  A CT scan usually is the next step, but being pregnant we of course wanted to avoid that.  The doctor decided to wait until morning and check my blood again to see what we found, of course keeping me on some good pain killers overnight.  Blood work was again inconclusive in the morning, so it was decided to send me for an MRI.  Ever had one?  They are pretty terrible.  About an hour of sitting totally still with no one around while in a big tube magnet. I shudder to think I"ll ever need one again.  Thankfully, the results of the MRI were much better than the ultrasound and we found I for sure I had appendicitis.  While it's never "good" to have something like this, the timing as far as the pregnancy is concerned couldn't have been much better. 

I went in for surgery that afternoon, and came out perfectly fine with a very healthy baby.  The concern of course was that the surgery would irritate my uterus enough to send me into preterm labor, but despite a few contractions we never had issues.  I'm now a week post-surgery and while very sore, I'm doing well all things considered.  Baby is kicking away and very healthy - we had a level II ultrasound a few days ago that was pre-scheduled and did go very well.

We're hoping the rest of the pregnancy proceeds without any other complications.  I'm halfway there, so it's looking good.  Still considered high-risk due to some other issues, but all this means really is we'll be seeing baby on ultrasound once a month unless something else is detected. 

So...that's been our last week or so!  I hope all of you out there have had much more productive weeks than I have.  Hoping to resume some normal posting in the next day or two.

Read More...

Decisions - A Guest Post

I have the pleasure of being able to share another FX Carrier mom's story today.  She preferred to write it anonymously.  Many carriers have heard her story w/her name attached, but as this is a bit more public, she wanted her name withheld.  Here’s her story:

I hadn’t even known Fragile X existed until the day my son was tested for it at 19 months old.  I didn’t read too much about it that night on the internet because the geneticist’s comment had been “I don’t think he has Fragile X, but when someone is being considered for an autism diagnosis, we also test for Fragile X.”

When my son was just over 21 months old, we received a call confirming he had Fragile X Syndrome.  He had 1100 CGG repeats, which meant nothing to me then.  A few months later he received a dual diagnosis of autism.  And although we’ve come to accept how much he is affected by Fragile X and autism over the years, it was clear even early on that this was not a mild case on the spectrums of the two disorders.  He’s now 10 and is nonverbal, has off-the-chart sensory issues, is not completely toilet trained, can be aggressive and the negatives list could go on.  On the positive side, he is so darn cute, he gives great hugs and kisses, he has an awesome memory (when he wants to show it) and is often a joy to be around.  But life with him can be exhausting.

We had a glimpse of this exhaustion by the time he was 2.  Which is what helped my husband and I to agree on one thing:  we did not want another child with Fragile X.  We loved our son, but did not want to risk having another child as affected as our son. 

But we disagreed on how to expand our family, which was a problem:

He wanted us to do IVF-PGD (I am scared of needles and pain; that’s not a good mix!).

He would’ve also agreed to the option of getting pregnant naturally and testing (via CVS or amnio) and terminating the pregnancy if the child had received my Fragile X-affected X.  I couldn’t live with the termination part.  Please note:  I support others’ choice to use this method and see why they choose it, but I could not personally choose this route.  In the end, I went through early menopause and these first two options were naturally closed off to us.  This is exactly why some carriers considering the risks of FXPOI have their eggs harvested to keep all options open!

I have always been pro-adoption.  I think God planted that seed in my head years ago since he had the knowledge of my FX carrier status.  Unfortunately, I married someone who was not pro-adoption and at the time I thought it wouldn’t matter.  It did and at times it still hurts both of us that we only have one child.  Neither of us would’ve chosen this number to complete our family.

Which is why I feel so strongly about folks being tested at birth for Fragile X.  Everyone needs to know their Fragile X status EARLY and grow up knowing about it in an age-appropriate way. 

If parents learn their child has Fragile X Syndrome, they can help them get the best intervention as soon as possible, join support groups, attend conferences and learn much more to help the whole family!

If parents learn their child is a Fragile X carrier, they can watch for issues that may arise (some carriers have issues of their own, some actually have the same issues as someone with the full mutation or Fragile X Syndrome).

Parents can explain in small chunks as the child grows what this might mean for them so they won’t be blindsided later.  I’ve seen people in crisis who jump online and ask strangers for help with the bombshell that was dropped at age 18, age 21 or age 25 while they are pregnant:  the bombshell that they are a carrier or they have the risk of being a carrier.  It’s a lot to take in all at once at any age and I feel for these folks.  I’ve also seen some people who grow up knowing their FX status and it seems like a much more natural way to handle this, giving opportunities for the young person to process it over time.

If you grow up knowing you’re a carrier and learn to be comfortable with what that entails, it’ll naturally come up with the person you seriously date and/or plan to marry.  The two of you can digest options you have and come to terms with those options before marriage.  Living through the options still may be different and difficult later on, but at least you had the opportunity to discuss it early…  maybe choose to marry someone with similar opinions about the options. 

No matter what, it’s great to have information early and be able to gradually come to terms with it all in a more natural manner!

Read More...

Other Fertility Options

This will be a short post, as there is just not much to say about these other options available to carriers.  So far, I've gone over two other options - choosing to have children naturally and also PGD.  Today, I want to go over the final three options.

First - there is the option of having a donor sperm/egg implanted.  I think this is fairly self explanatory.  You choose to have either one or both sperm and egg donated and then implanted and have a normal pregnancy without the risk of Fragile X.  From what I have read, this seems to be a choice of a very small amount of families anymore.  As you are still looking at increased costs, most people go the route of PGD to have natural children.

Second - You can choose to adopt children instead of going through any of this.  As with most other options, there is a significant cost involved, but it seems this option is chosen more often than donor sperm/eggs. 

Finally - there is the option to choose to not have more children.  I think of all of these choices, this one can be the most difficult to a family and a woman in particular.  I personally know someone whose marriage ended when she found out she had a full mutation of Fragile X and decided she would not have children at all.  It's incredibly heartbreaking to go through a diagnosis and then a decision such as this.  

I think no matter what you choose as a carrier, this decision will weigh on your heart always.  It's difficult to come to a decision for yourself, but adding in your spouse's decision to the process can make it infinitely more difficult.  I was very lucky that Mr Awesome and I are on the same page, but I know others that are not.  My only advice is to make sure you know your options and come to peace with your decision.  Us carriers have increased risk for depression and anxiety already, so it's even more important to not allow a large decision like this to overtake our lives and our mental stability. 

Read More...

PGD and Fragile X

As I mentioned before, I wanted to take the time to go over reproductive options for FXS carriers.  I've already gone over one, and that is to "take your chances" so to speak as my husband and I have done.  Another option (though fairly costly) is what is called Preimplantation Genetic Diagnosis or PGD for short.

PGD is performed in conjunction with IVF, but with the added step of analyzing the eggs or embryos for genetic abnormalities before implantation occurs.  This can mean that no embryos with Fragile X would even be implanted and thus makes the risk of passing Fragile X to your children pretty low, most PGD clinics give around 90-95% success rate in referring to how effective it is in removing the genetic issue you have requested.

It is important to note that Fragile X is  certainly not the only genetic condition that is combated with PGD.  Tay Sachs, cystic fibrosis, muscular dystrophy, and spinal muscular atrophy are some of the other single-gene disorders covered.  Also growing, are the amount of people requesting gender selection via PGD

Unfortunately, the cost of PGD is still very high.  Most clinics have different pricing, but it seems the national averages I found range around $17-$22k per cycle with somewhere around a 32-42% success rate.  More insurance companies (at least in the US) are beginning to cover if you have a family history of genetic disorders but it is usually a bit of a fight and certainly does not cover the entire amount.

I hope this information is useful to someone looking into options as far as having children goes.  It certainly is not an easy decision and with PGD thrown into the mix money is most certainly a factor as well.  I'd love to hear from someone who has pursed or gone through PGD and post your story here for some more insight but have yet to run across a family or person who has actually gone through the process - please feel free to contact me if you would like to share your story!

Now that I've gone over the second option for carriers - I will be covering the other two options in my next post tomorrow and following up with a guest post on Friday about another family's decision in regards to reproduction.

Read More...

Decisions Pt. 2

As I talked about in my last post, Mr Awesome and I decided early on in our marriage to conceive naturally and "take our chances" with the FX mutation.  Ideally, I should have been tested before we started trying for Ayden.  I know Mr Awesome urged me to quite often, but for whatever reasons I didn't. 

When I was pregnant (still in the first trimester) we had me tested and went through genetic counseling.  The genetic counseling was kind of a joke.  We had a counselor who had never heard of Fragile X even before meeting us, so she couldn't really even answer questions we had very well.  It was discouraging to say the least and left us pretty freaked out.  She basically didn't understand that FX was a spectrum disorder, so acted like it was an on/off switch when you hit 200 CGG repeats as to whether you would be totally mentally impaired or not.

The couple days after our appointment were not good ones for us.  Termination was never an option, but we were both scared.  I felt guilty because I hadn't gotten tested earlier even though Mr Awesome had urged me too many times.  Mr Awesome was angry, and I couldn't blame him really.  I knew his anger was a lot because he was surprised by what the genetics counselor said and also because he too was scared.  We certainly weren't sure how we could handle something like what was described to us.  Our emotions calmed down though, and we knew we were in this together no matter what.  I think we both realized that blaming wouldn't help anyone, and made a plan for what we could do right then - including finding a pediatrician knowledgeable about Fragile X.

You can read Ayden's Story to learn more about after he was born...I won't go into it here again.  What I do know is I wouldn't change a thing.  Ayden is so amazing, and sure he has his quirks but they make him our Ayden whom we are so blessed to have.

The decision was a little easier when we decided to have Issac.  I'm actually not even sure we discussed FX at all, just having another baby in general.  We certainly didn't know the full extent of Ayden's FX by that point in time, but I'm not sure that would have changed much either.  My pregnancy was definitely difficult in the aspect that Ayden's major frustrations and screaming started while I was pregnant.  I remember feeling like I was failing him and just very helpless as to what was happening.  Until we had early intervention come in, we really felt it was all behavioral, afterwards it was easier. Issac was born during this time.

We had pretty much decided by this time that we might have another child, but not more than one.  I didn't have baby fever around Issac's first birthday like I did with Ayden.   I also wanted to make sure that Issac started talking, I was always so scared he wouldn't.  (Of course I can't STOP him now!).  Mr Awesome and I had begun talking about another baby and eventually decided we would rather have them closer together as we planned before.  Two years apart seemed good to us (and still does!).  So we began trying again, only to lose a baby due to an ectopic pregnancy.  Then Ayden was diagnosed. 

We discussed PGD while we were at the FX clinic for Ayden.  There were some statements made to us that were...unsettling....that we had to deal with and PGD came up during that.  It was a lot to process, but we never discussed PGD again after that really.  Essentially, between the cost ($9k-$18k for one round, not covered by insurance) and chance of multiples...it wasn't the right decision for us.  There are processes in which they only implant one fertilized egg at a time, but it is more expensive to do it that way and could take more attempts than normal.  I'll have a separate post discussing PGD later, as it is one of the options for FX carriers

So, now we have Baby Car on the way.  (Did I mention Issac named baby....I think it's sticking too, at least until he has a name).  We're very well aware of the chances of having another FX child.  We will not be doing any prenatal screening, but will be testing baby at birth.  The test won't tell us much, but it will give us the chance to get early intervention for even a slight delay.  If I really think about it, it's scary. If the past four years have taught me anything though, it's to take it a day at a time.  I don't know what the future holds for us...who can? I'm just enjoying life, enjoying this new life growing, and enjoying my beautiful, wonderful family.

I'll be putting together more about carrier reproductive options at a later date, but if you're curious now you can always visit the NFXF web page about reproductive options as well.

Read More...

Decisions Pt. 1

I mentioned back in this post that we had spent the morning of Ayden's birthday in the doctor's office, and promised more on that later.  Well, today is later and it seems like a perfect day to share. (especially after yesterday's post!)

Some of you that have been reading a while may remember that I have known I was a FX Carrier since I was in high school.  My dad was tested and found to be a carrier which makes me and my two sisters carriers as well.  I was not actually tested though until I was pregnant with Ayden.  I can't say why I chose not to get the test done - maybe it had something to do with getting blood drawn or maybe I was scared at how bad I would be.  Regardless, it wouldn't have changed anything for us.  We wanted four children (at the time), and from the information I was given seven years earlier my risk was fairly low.

Just typing that kind of makes me feel like I was naive.  FXS research is changing all the time even now, so you can imagine how much it was changing then!  We opted to not have prenatal testing done, knowing it wouldn't make a difference and we wouldn't terminate no matter what.  The plan was to find a pediatrician who knew a bit about Fragile X an get him tested when he was born.  Turns out our pediatrician didn't know as much as I would have liked, but I'm not sure we could have found one that knew much more or is as wonderful either.  When Ayden was in the hospital, she did an exam and assured us he had none of the physical features and she didn't feel he needed to be tested unless need arose later on.  Of course, we know this observation is totally incorrect now, but at the time it made sense and being new parents we breathed a sigh of relief and relished in our perfect little boy.

We decided to start trying for number two around Ayden's first birthday and were blessed very quickly after that with our second little boy.  No genetic testing this time either, and no worries about FXS in the hospital either.  It was different with Issac because his first week was riddle with other complications. He had some fluid in his lungs and spent a better part of his stay at the hospital in the nursery on an IV and oxygen, then onto the billi lights and daily blood checks for the first few days he was home. It was quite a ride with him and I don't think we even asked about Fragile X.  At this point, Ayden had been in EarlyOn for a few months.

I've said before we were sure Ayden had FXS before he was tested.  We had consciously opted to not test him for a good year because of his tactile defensiveness.   Neither of us wanted to see our little guy strapped down and screaming to get a test that we were pretty certain what the outcome would be.

November of 2010, we decided to have another baby.  We wanted three, and didn't want many years between children.  We knew the risks as we did with both kids (maybe moreso this time).  About a week after we decided to start trying, I got a positive pregnancy test.  Birth control didn't work so well, but the timing was right for us and we were ecstatic.  A few weeks later I had a misdiagnosed miscarriage (the misdiagnosed part was unknown at the time).  Devastating is a mild understatement to what I felt at the time.  The doctors were monitoring me weekly to make sure my hormones returned to normal, but it late January my left tube ruptured at what would have been 13.5 weeks pregnant.  As if the miscarriage wasn't enough, finding out it was actually an ectopic pregnancy was worse - especially when I was quite literally dying of internal bleeding.  Through all of this though, we decided we certainly wanted that third child even more.  We were told to wait 12 weeks for me to recover and then started trying again.

Which brings me to being at the doctor's office on Ayden's birthday....  After a few months of trying, I got a positive pregnancy test in early June.  After one ectopic, I'm considered high risk so I had blood work and ultrasounds to determine where this new pregnancy was at.  My second ultrasound was on Ayden's 4th birthday showing this baby was indeed in the correct place and had a nice strong heartbeat fluttering away.  We decided to tell family and friends at that point, so most people already know, but today I have officially made it through my first trimester!  We are expecting our third (and final) little one in February 2012, and couldn't be more excited.

There are many trains of thought with FXS carriers as to child bearing, and we have taken one path. I will be following up this post later with more on our decision and in the coming months plan to go over other options that carriers have as well.  

Read More...

About FXPOI

I am working on putting together brief overviews about the different Fragile X Associated Disorders - and this is the second (behind the Fragile X Syndrome page I have up).  You can find this post as well under the tab at the top labeled FXPOI.  Much of this is simplified to make it easier to understand, and while I got my information from Fragile X websites - it should not be taken as medical advice.

Fragile X Associated Primary Ovarian Insufficiency, or FXPOI is a condition in which the ovaries stop functioning normally in a woman younger than age 40. Common symptoms of POI include absent or irregular periods and infertility.  POI is not menopause.  Women with FXPOI may develop symptoms similar to those of menopause such as hot flashes and vaginal dryness, but it differs from menopause in some important ways.

• Women with POI are still able to get pregnant in some cases because their ovaries may release viable eggs now and then.
• Women with POI can experience a return of menstrual periods
• Some women will become pregnant years after an initial diagnosis.

Approximately 20%-28% of women that are carriers of FXS experience FXPOI and another 23% experience early menopause.  That means that as a carrier, you have about a 50% chance of menopause occurring before age 45.

ALL women that are carriers of FXS have some decrease in ovarian function (decreased fertility), and some are at risk for anxiety and depression as well.  It must be noted though, that many women with premutations are able to conceive and you should not assume decreased fertility.  The decreased fertility is related to increased levels of some hormones, particularly FSH and a decreased length of a phase in the menstrual cycle called the follicular phase.  The current recommendation for women with the premutation is to have FSH levels evaluated and monitored throughout their childbearing years.

If you have POI and no known history of Fragile X, you have about a 1/50 chance of being a premutation carriers.  For women with POI and a family history of relatives with POI, you have about a 1/15 chance of carrying the premutation and have a significant risk of having a child with FXS as well.  Testing for Fragile X is highly recommended.

This is a fantastic PDF about POI , though it doesn't refer to Fragile X at all.    It contains a lot of basic information about how menstrual cycles work and what kind of tests should be run to determine POI as well as information on the different treatments.

If you are a FXS carrier, even without POI you should begin taking at least 1500mg of elemental calcium (make sure you check the label to be sure as most supplements total is not just elemental calcium).  For those with POI on a hormone replacement therapy, you should be taking at least 1000mg of elemental calcium split into doses of 600mg at a time as that is all the body can absorb at once.  Also be sure you are getting a decent amount of vitamin D as it helps to absorb calcium.    Calcium is such an important thing for women, but especially for FXS carriers as we are at higher risk for osteoporosis as well.

Read More...

Are You Aware?

National Fragile X Awareness Day is Friday, July 22, 2011.  Please take a few moments to share Fragile X with someone who may not be aware.

Are you aware?

Unfortunately, the answer for so many is NO.  Today, I want to share with you some things that have been said to FX parents from family, friends, random people, and even some doctors.

Please note:  I've edited a few of the comments to keep some anonymity.

• My ex-husband (when my son was diagnosed) "Of course it came from her side"
• I was a Nazi Concentration Camp Guard in a previous life and my sons were Jewish prisoners. It is now my turn to reverse my Karma and take care of them...
• ‎So it's genetic. Maybe it'll go away.
• Are you sure they didn't get Fragile X from their immunization shots?
• Your miscarriage was probably a tumor and not a baby. Maybe this had to do with a tumor, too.
• This guy at church came up to me and my son and looks him in the eyes and says, " I know you can behave and be quiet, I've seen you do it. You need to stop all that noise you are making and be good for your mom." Thing is, my son, who was 5 yrs old at the time (2 yrs mentally), was being really, really good AND paying attention.  
• It must of been something I ate when I was pregnant that made it mutate.
• Oh...but he is still cute! 
• Isn't there a pill for that?
• Why don't you just give the kids some protein and that will cure the fx.
• You just need to spank him more. Then he will behave like a proper little boy.
• Can't you cure him like Jenny McCarthy did with her son??
• Speech therapy for a boy who can't speak?
• She doesn't have autism because she has such a beautiful smile..
• Will he grow out of it??
• Fragile X boys die in utero and usually are miscarried
• When I called an Autism group around the time of our dual diagnosis - I was informed I didn't belong to their group because Fragile X is large testicles and all that ... (Last time I looked my daughter doesn't tick that box!)
• He's suffering!
• When I first read about FX and asked for my son to be tested and spoke to our pediatrician cause I'd just discovered I was pregnant again and was worried about it - he told me not to worry as FX wasn't passed on like that! You obviously catch it through sneezing!! 
• You know, the geneticist told me that carriers are really difficult people to get along with.
•  Don't worry, I've been praying, and God will make this go away
• Aww... His poor/pitiful soul.
• If only you would have baptised him he wouldnt be autistic and he would sleep better with God watching over him.
• I had one guy tell me he could lay his hands on him and heal him.
• Lab: "Mrs Mom, it doesn't appear that your son (my youngest, then 2 months old when my oldest had already been diagnosed) has Fragile X, but we want to test him again just to be sure". Later I found out that they had really lost the test and didn't want to admit it. 2 months later: "Mrs. Mom, your son does in fact have the full mutation".
• I've had one doctor tell me I read to much on the internet because i was going in to get a blood test to see if i was in menopause.  It had been over 6 months of symptoms and I told he about FX, but he told me there was no way.   ((Later I went back and was able to say "I told you so!"))
• You like your children being the way they are because they are dependent on you.
• A comment from our (ex) pediatrician when I brought to him my concerns (again) about my son's development - "Oh, there's nothing wrong with him, he's just lazy!"
• He doesn't walk because you carry him all the time but then again muscular dystrophy may be an option, hmm.
• Genetics-Prof at Notre Dame- "Fragile X? That is so very rare- your son doesn't look like he has it. Chromosone testing is used to diagnose this- I wouldn't waste money on a DNA test!  ((This is where I take out the paperwork from Kimball Genetics that has the DNA test results.))
• My son's first Pediatrician told us that he was just "lazy" because he had an older brother and sister.
• Pediatric Neurologist - I know I have diagnosed your son with Hypotoinc CP- Fragile X is very unlikely- your son does not have any of the clinical features. Me- I have results from a DNA test- Doc reads the results- " I know the doctor that ordered the test- I didn't think about Fragile X" ((This is three years after the diagnosis of Hypotonic CP!))
• The best developmental pediatrician in our state told me after evaluating my son that "there is nothing wrong with him, he's just a boy. He will be fine when he goes to kindergarten. One day you will look back on this and laugh at how you were unnecessarily worried".  ((One year later, my mom, a nurse, brought me info on Fragile X and my son was tested. When I met up with this Dr. a few years later, I said, "Oddly enough, I'm still not laughing."))
• "There is no way we have Fragile X, we don't have that in Alabama."  Having already met several families from Al - I said, "Well, actually you do have Fragile X in Alabama"  Her reply - "They must not have been born here."
• I was asked if Fragile X was caused by inbreeding!
• When my daughter was diagnosed in 1995 the doctor told me "I guess she is just unlucky"
• I was once at a FX conference in Wash. DC. I ran into a woman I had met earlier and she was sitting at a table with a group of people. She said to me, "Oh, tell them about your family" and I did - one with autism, one with FX, one typical and one with tri-21 and yes, they are all biologically mine and their father's. The woman then said, "Isn't that just amazing?! Mary, you're a geneticist...what would you tell her?" Mary looked at me, quite uncomfortable by how the first woman was behaving and said, "I'd tell her to move to Vegas - those odds are amazing!" ((I laughed until I cried...so funny) 
• I was once told it was because I did not bond with my son while I was pregnant.
• I was told by a woman from India that I just needed to go see a witch doctor because they can cure anything, even a "little thing like that chromosome thing you're talking about".
• I was told that maybe it was something I ate...   
• The school told me I was my son's problem....and I quote "It`s kind of like alcoholism...if you let him be dependent on you..he will" 
• My daughter's second pediatrician. ....."She can't have FX, both parents need to be carriers and that is really rare" 
• Upon hearing that both of my (adoptive) daughters lived with involved disabilities a woman asked if I had heard of generational sin... As I looked at her with shock, she went on to tell me how God had punished people in her husband's family.  

Now that I've shared a bunch of others', I will share ours.  I want to preface this by saying our pediatrician is awesome and so good with Ayden.  I would recommend her in a heartbeat, but unfortunately she just wasn't as knowledgeable in Fragile X as we could have hoped.  I'm not sure that is all her fault, as even some of the medical journals are not up to date.  Her comment after being asked if we should test him for FX (I knew I was a carrier) "He doesn't have any of the physical features, you can wait till around 8 or 9 to get him tested"

While I don't have the time or space to debunk most of these ignorant statements above, I do want to share a little about ours.  Most FXS kids do not show the physical features until around puberty.  This includes the prominent forehead and ears as well as the longer face and large testicles.  In Ayden's case, the fact he was unable to nurse and had no real sucking reflex should have clued us in right away.  Also the high palette and low tone.  If not then, definitely when he crawled and walked late, didn't pick up much of any language and had no desire to imitate (still doesn't).  The anxiety he experienced around 7 months was also a clue, though we just thought it was separation anxiety.  Finally the spinning and hand flapping should have also been an indicator.  It is very easy to look back and see these things now, but more knowledge before would have certainly been beneficial for us.  I hope that by sharing this information here I may be able to help some other parent who maybe never has heard of Fragile X, but has noticed these types of things and maybe will find some answers.

As you may notice, today is Wednesday and no Research post.  Not only did I not have time to get through research this week, but also I have much to share with FX Awareness week.  Fear not, more research topics are coming soon!

Read More...