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.

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Research Wednesday

Back to our normal grind here with some more promising new medication to help out FXS kiddos (and adults).  This one is a little different than our clinical trial drugs though as the medication I am covering today is already FDA approved!

Many of you may have heard of minocycline, a drug used to treat bacterial infections including acne.  If you haven't heard of minocycline, you most likely will have heard of tetracycline (though maybe not by name). Tetracycline was used for a while as a "safe" antibiotic for pregnant women but was later found to permanently stain the baby's teeth.

So, how does Minocycline connect with FXS?  Many families whose children are on minocycline are showing improvements in behavior, attention levels, and most importantly language!

It all started with a mouse.  See, a fragile x knockout mouse was given minocycline for three weeks starting at birth and researchers found that the synaptic connections were normalized.   Normally in FXS, those synaptic connections are weak which is thought to be the cause of intellectual disability and autism.  The minocycline treatment in the mouse reversed that and also showed good effects on cognition and learning tasks as well.   After the study was published, many parents wanted their FXS children to try minocycline and a good amount of doctors decided to prescribe it to see what happened.

The amount of FXSers on this, prompted a survey to parents in which a whopping 54% were reporting improvements in language, 50% reported improved attention span, 44% noticed improved social communication, and 30% noticed a lessening of anxiety levels. 

All these promising survey results resulted in a controlled study of minocycline in FXS patients and is currently underway.  I've spoken to many parents whose children are on minocycline and showed improvement very quickly (within a few weeks, actually).  As with any medicine, there are those FXSers who don't respond as well as others, but from the studies and reports I have heard those numbers are fairly small.

I think the most promising thing to me is seeing that there are medications out there now that are proving to treat some of the symptoms of FXS, and that is excellent to hear.

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Staying At Home

One of my biggest pet peeves is when someone says to me (or Mr Awesome) "You are SO LUCKY to be able to stay home with your kids".  Usually I just smile and nod, but it really gets to me.  

See, luck has nothing to do with me staying home with the boys.  It was a conscience decision made my Mr Awesome and I when I was pregnant with Ayden.  We worked out the numbers of daycare versus me staying home and decided we could do it.  At the time the decision was made, we essentially cut our income in half.  It wasn't easy, especially for the two of us who are big spenders and big givers, but we made (and continue to make) the necessary sacrifices to make it happen.  We both agree that it is better for the kids and very much worth it to be raising our kids ourselves.

Some of those sacrifices are certainly not easy.  We don't have cable tv, we don't go out to eat for dinners, we rarely have a "date night" or go to the movies. We survive with a single vehicle and make the best out of free or very cheap things to do in our area.  We don't have new furniture and still use many of the dishes from my "first apartment" stash.   We don't go hang out with our friends at the bar, or travel like many other couples our age do.  Normally our "hanging out" tends to be at our house or our friends' house - though definitely more at ours because it is easier with Ayden. 

Speaking of Ayden, I can't imagine where he would be if he had been in daycare.  Heck, I'm not sure many day cares would have taken him at 18 months, I know I was pulling out my hair and I am his mom!  It worked out for the best that I was able to work with his therapists and then work with him on things they instructed me when they weren't around.  The 1-on-1 care and therapy he received from me and his therapists was just invaluable when it comes down to it, and certainly not something that would have been as effective if I was working all day then coming home and doing it - Ayden's worst time of the day still is between 5 and 7 pm!

We lived for a few years under an on-call schedule for Sherief that more often than not consisted of us having delayed or ruined plans and at least 2-3 times a week we would receive middle of the night "emergency" phone calls.  During those years, it was rare that we all sat down to dinner together or really had much free time at all, but the company Mr Awesome was with took care of us, and we will be forever grateful for that.  At the point it became too much, Mr Awesome took a large pay cut to begin work at a more stable work place.  The new place, where he continues to work now, offers a lot more advancement opportunities as well as being more stable - so in the end, we made a decision that was difficult at the time but a good step towards where we planned to be in the future.

Of course there are other things we sacrificed, but this is just a small taste of it.  I look at those people who say to me that we are so lucky, and can be jealous of their new cars, leather furniture, huge houses, and being able to go to movies and out to eat every week but instead choose to cuddle with the boys as they watch tv in the morning, read books to them, or sing songs with them and dance.   I am there when they get up in the morning and when they go down for naps in the afternoon.  I have never missed a milestone with either of the boys and was even able to video tape Issac's first time crawling to share with family.  I know being a stay-at-home mom isn't for everyone and I certainly don't think less of anyone for working and putting their children in daycare.  I just know that this is where I am meant to be, and raising my children is what I'm meant to be doing right now and worth every single sacrifice we make.   All those things I listed above, they're just things, but the time I am spending with the boys right now is something I'll never be able to do again, and something I'll treasure for the rest of my life.

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Our Happy Ending

When I was pregnant with Ayden, like so many other mothers I joined Baby Center and found my way to the July 2007 Birth Club.  (For those of you keeping track, that would have been in November 2006.)  After the birth of our babies in 2007, a good amount of those moms moved on never to be heard from again.  But there was a group of about 15 of us that found a new home and continued to talk and share as well as get support and advice from basic things related to feeding our babies to venting about our spouse/significant other.  Along the way we've lost a few due to differing personalities or not having time, welcomed a second generation of babies (and soon to be third!), supported each other through miscarriages and divorce,  as well as said goodbye to one of the July babies who was tragically taken from us.  Even with our busy lives, we still find time to chat on our board or text each other most every day.  These ladies have been the best "girl" friends I have ever had, even though I've only actually met two of them.  They have been around through most of the important events in my life, and I imagine all of the ones going forward.   I am so thankful for each and every one of them.

But today, I want to share about just one of them.  One of them that took something awful, and turned it into something beautiful.  A mere hour after making this post to my blog, I received this message in the comments:

Cortney,

I'm so sorry that this happened to you and Ayden. It's horrible and awful that someone would abuse his child's disability to scam other parents who need this kind of technology to help their children.

Ayden will be receiving his very own ipad in the mail in less than two weeks. He deserves this. He's such a sweet little boy and even though I've only met him twice I know how much this will help him and really make his day. I'll forward you the shipping details as soon as I have them, but as of right now Apple's saying July 21-25.

Love you!
W

Wednesday, we received Ayden's iPad in the mail.  It was packaged in a brown box, that enclosed the actual iPad box.  As I was opening the box, both of the boys were by my side.  They love packages, so it wasn't surprising.  As I pulled the iPad box out, Ayden began squealing in delight and saying "birds, birds, birds" over and over again complete with jumping around and flapping his hands.  He couldn't even slow down to help take the iPad out of the box!  It took about 15-20 minutes to hook it up to my computer, get registered, and of course put Angry Birds on.  For the entirety of the time I was doing this, Ayden was standing next to me squealing and flapping away.  (if you know Ayden, you can picture exactly what he was doing - just about 10 times faster and louder than normal).  He was allowed to "free play" for quite a while since it was new for him, but still burst into uncontrollable sobbing, whining, and screaming after we told him time was up.   I put the iPad on the charger and every time I walked close to it for the rest of the day he would run up behind me excited again - only to flail and sob some more when I walked by it instead of handing it to him.  He was being a pretty big monster, but I only tell you this so you can begin to understand how much he loves his iPad.

After Ayden went to bed, I was able to get the app Grace setup for PECS.  It's not the app we want to use for him, but we received this one for free on Autism Awareness Day and the best one (Proloque2go) has a pretty steep price tag of $189.  For now, this will work.  It is missing a few features I would like, most importantly speaking the sentence or words when and after they are chosen.  That reinforcement is pretty key, especially for Ayden, and Grace lacks any kind of audio.

I had my first chance to start working with Ayden on Grace the next morning.  He very much is against it right now because he just wants to play his games!  I taught him how to ask for Angry Birds on the iPad, and then he got to play for a bit - we then did it again and followed this pattern for a while.  He's starting to get it, but it will take some time.  Meanwhile, he gets to work on those fine motor skills and turn taking with puzzles and memory games.  When I let him "free play" again, he started exploring all the other apps I have setup for him, so hopefully he starts using it for more than just Angry Birds (or killing Zombies) during his free time.  Twenty-four hours after putting it in his hands for the first time, he has already completed some small sentences and is continually working on using his finger instead of his thumb.  It is so amazing the improvements in such a small amount of time.  I can't wait to see how much better he gets going forward, and for that - there is only one person to thank.

And for you, Wendy....I don't know if I can ever really explain how much this means to me, but thank you so much again.  I have told you this before, but want to say it publicly as well.  You are quite possibly one of the most unselfish, giving people I have ever known and I have no idea how I can every convey my gratitude to you.  I love that you are so generous and willing to help and I am so thankful that you even thought to do this.  Anyone that cares so much about Ayden has and will always have a very special place in my heart.  Every rude look, every person staring as Ayden has a public meltdown, every bit of unsolicited advice - those things make the people that support us and him so much more important.  It's you and others like you that help me make it through bad days.  It;s knowing we have the support and love of so many amazing people like yourself that makes me confident we can overcome any obstacle that is put in front of us.

Here are some of the pictures I took of Ayden after I put his iPad in his hands for the first time.  Unfortunately none of them show the level of excitement he actually had because he was much too busy concentrating on playing Angry Birds. 

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Fragile X Awareness Day 2011

Today is Fragile X Awareness Day 2011!  I hope that you have taken the time to read my posts over the past few weeks about Fragile X.  If not, you should do it now.  (hint hint)

I have a couple more things to add for those of you related to me on my father's side. (The Masters')

1. It is in our family.
2. There are 6 boys and 1 girl with the full mutation not to mention at least 11 carriers spread through 5 generations; though I expect that number is closer to 20.
3. If your grandfather or grandmother was diagnosed with Parkinson’s there’s a chance that it is (or was) Fragile X Associated Tremor/Ataxia Syndrome or FXTAS and you should be tested.
4. If someone in your family has been diagnosed with Fibromyalsia, there is a good chance it is also related to Fragile X and you should be tested.
5. You and your children should be tested even if your kids don’t show any symptoms.
6. You don’t want to wait until it shows up in your grandkids or great grandkids, it will rip your heart out.

Thank you Melissa, for letting me use some of your fantastic blog post

Now that you know a little more about Fragile X then you did before, today I want to share what you can do to help. 

Support research and government funding.  Researchers are learning new things about FXS and related disorders all the time, but as with every disorder those researchers need funds to help well, research.  Research that isn't a cure, but it can help our kids live better lives.  The great part about FXS research, is it's also helping scientists and doctors to learn more about other neuro-degenerative disorders such as Parkinson's, Alzheimer's, and Huntington's.  One of the things I think is particularly interesting is that this research has helped determine that one gene controls so many different things where before it was believed that one gene had one particular function.   If you feel compelled to support the FX research you can either donate, or just reach out to your congressman/woman or senator.  You can find out about exactly how you can help here:  NFXF Legislative Action Center

Support parents and caregivers.  Offering to watch the kids, calling to see how the parents are doing, asking if you can help, and really just listening are great things.  Most of us parents won't approach you with these things, it's a huge burden to bear and often times we just don't want to lay that on anyone else.


Learn more about Fragile X.  If you know an affected child, you more than likely know an affected parent as well and maybe even a grandparent.  The more you know, the more you can help, and the more support you can offer.  Check out the links on the side of my blog for more information as well as the About FXS and FX Associated Disorders sections of this blog.  Also visiting the different blogs in the Fragile X Webring (located in the side bar of my blog as well) may give you a good insight into FX Families' day to day lives.

Educate others.  Tell others about FXS, spend time with your own children teaching them how to be kind and accepting of kids who are different.  Each person

Don't be afraid to ask questions.   If you don't understand, ask.  Most parents are more than willing to answer any questions you may have and will not be offended or hurt.  I can guarantee that answering questions is much easier on us then being ignored or hearing ignorant comments.  Just remember to think before you speak, there is always a "nice" way to ask a question that isn't "Will your kid ever be normal".

Today is also a very special day for me besides being Fragile X Awareness Day.  Today is Mr Awesome and my 5th wedding anniversary and I couldn't leave this blog post without mentioning the event that started it all.   Without an us, there would be no Ayden.  I'm thankful every day to have this special man in my life and my two (soon to be three!) children.  He is the best father, friend, and husband I could have ever hoped for and I love him more each day.  I am so lucky and blessed to have him and my children in my life.  Love you, Crazy.

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Mission: iPossible

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.

In what will be one of my last posts referring to the iPad drama of the past few weeks, I want to tell everyone a little bit about what has been dubbed Mission: iPossible.

At the bottom of the iPad Giveaway post, I made a short comment referring to MiP:

There are other things in motion that hopefully can make this, tragedy, not so terrible.  I'm going to be honest though and say I'm not ready to link to them on this blog; however, if they work out it will be a tremendous blessing for so many.

Well, as of today, I am now ready to "link up" so to speak. 

MiP came into being because of what happened with the iPad giveaway we were involved in and have already delivered an iPad into the hands of one of the children promised one by Marissa's Bunny.  It's quite an amazing thing the group there is doing, and while I could go on to explain I urge you to check their website our for yourself.  Read their mission and the handful of posts, I hope what they are doing touches you as much as it did me.

Two small disclaimers on this...

First... due to the generosity of one very special friend of mine, we have pulled our name from the recipient list of MiP.  Stay tuned on Monday to hear more about this.

Second... I am in no way advocating giving money to MiP.  (they don't have a way to donate yet, but from what I understand it is forthcoming).  After what happened with MB, I am in no way advising anyone to give money without looking into it yourself and making sure it's legitimate.  I don't know any of the people in charge of MiP, but I have had conversations with Ken over email that I can say without a doubt he is a trustworthy guy as far as this goes. (I could give all my reasons for coming to this decision, but I think each person should decide for themselves.)   I'm very lucky to have come into contact with him and many of the other bloggers that were winners or involved in this whole thing.  Each story is touching, tear jerking, and such an amazing show of strength and perseverance from these very special kids' parents.

Even so, please don't take my word for this. You should feel comfortable with any website you are donating to or entering a giveaway on.  Take some time to read the post over at Love That Max about donating money too, it's good info!  Most of all, trust your gut.  There ARE good people out there who follow through on giveaways.

So...to summarize! 
Go here and read about MiP. 
Go here and read about donating money online. 
Then go here and share the Fragile X Awareness Day post - don't forget it's coming up on Friday!!

Come back on Monday to hear about our happy ending to this story.

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Another iPad Update

My blog literally exploded this week...literally. 

In what one website is calling iPadgate...my blog was linked up and I have had an influx of questions that I want to answer now that I'm a little more...settled....from the anger and hurt. 

I came across Marissa's Bunny while looking through some Fragile X blogs just after Ayden's diagnosis.  One website mentioned them, and I ended up spending a few hours reading through the blog and about Marissa.  I saw the original post about the iPad giveaway, and figured, "Why not?". 

Ayden has been using my iPod touch for some time.  It is an original 1st Generation iTouch, not even able to update to iOS4 and has no external speakers - but Ayden doesn't know that.  He enjoys playing Angry Birds and some other preschool games on it that really help with his fine motor skills, which as readers of my blog know Ayden is far behind in for his age.  Since he enjoyed the iTouch so much, I started looking into some of the different programs that essentially turn your iTouch into an AAC Device.  Normal AAC Devices normally have a steep price tag of around $8k-$10k, so it would be an acceptable alternative - even with the software for the iTouch running at about $200.   Proloque2Go is the software we looked at, and it is exactly what we need, but it's just too small on the iTouch.  This is where the iPad would be a huge benefit and the main reason I entered the Marissa's Bunny giveaway. To be certain, it's not something Ayden needs or we would have figured out a way to swing it.  However, I cannot deny how much this tool could help him.

I received the email letting us know Ayden was chosen as a winner on Mother's Day evening.  I was crying as I read the email, because this was a huge blessing to us.  Ayden won something because of who he was, and to have someone else recognize how special he was, it meant something. 

I do want to mention here that we never gave any money to Marissa's Bunny or any personal information in my submission that couldn't be easily Google'd or found here on my blog.   Even after we were told we were receiving an iPad, no personal information was submitted.  In the end, we did give our address and also via a letter of recommendation by Ayden's SLP, the pre-school that he attended last year.  Nothing that can cause too much damage.  Unfortunately, I did mention the raffle and giveaway here a few times that was collecting money.  I haven't had anyone mention to me that they donated, but there is always that possibility.  The most I put into this was my time (which, in itself is pretty precious these days) and hope.  For other families involved, it wasn't so easy.  One family lost their place in therapy and was put at the bottom of a two year waiting list because over and over the iPad didn't arrive.  Another mother spoke about her son crying himself to sleep after she told him the iPad was not coming.

Looking back, it's pretty obvious something was going on.  I noticed after reading the emails while I was posting them in my earlier post that there were small discrepancies (such as the number of total entrants to the giveaway).  Nothing that raised a red flag to me at that time, but live and learn I guess.  It was easy to believe because we [the families] wanted to.  I don't think I'm alone when I say that....so many of the other 39 families affected felt the same way.  We all had hope, and unfortunately it was poorly placed.  I know for me, even with all the warning signs at the end I still held out hope that what I was told was true.  It is still difficult for me to believe someone with a special needs child, someone that is walking this same road, could treat other families in the manner he did. 

I can't say exactly what happened with this whole mess.  In the many places this has been discussed, people are ranging from not believing Marissa is even Mike's child, to just that Mike got in over his head.    For me, I do believe Mike is Marissa's dad.  He's been around the blogging community for a while and has contacts with places such as Bungie, Penny Arcade, Ctrl-Alt-Del....he's very prominent in the "geek" community.  His raffles have even been mentioned on HBO.  I don't know what happened, and I don't want to speculate, but I do WANT to know.  After it was announced the iPads were "no longer there", Mike was very adamant he couldn't say anything for fear of losing his job.  Now that he has lost his job, I would think he has nothing to lose by coming forward.  Maybe he was a victim as well, I don't know.  What I do know, is that despite the circumstances - he was still the one sending the emails.  Emails that told us our software was purchased, that our iPads were being packed, that they had even been shipped (and numerous other things).  Regardless of anything else, those lies came from him directly and for that I hold him responsible.  For lying to me, and for lying to 39 other families.  In one of the last emails I received, I was told this:

"...I'll continue marissasbunny, minus fundraising, minus giveaways.  We'll find another charity to give the rest of the funds to, which is sad.  We are going to deliver the iPads to the still interested, as soon as I can, and as soon as I am allowed.  If it takes too long, regretfully, I'm going to dip into Marissa's surgery fund...."

Now, if this was the end of this story, it would be a sad story indeed.  But good often rises from the bad and hope can be restored.  They are out there....the Kens, Maureens, Darcys, Heathers, Anthonys, and Wendys.... those who have unbelievably giving hearts and do their best to help make situations right, to help make THIS situation right.  It's those people who remind me to keep faith in others and that for every bad person out there, there are a few good ones.

Come back tomorrow to learn more about some of what is being done to help the families affected by iPadgate.

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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!

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PECS Update

As you know, we have been working with Ayden on implementing PECS this summer. We successfully transitioned him to Phase III a few weeks ago and it is going fantastic.

Phase III is all about learning to associate a card with a specific object. By the end of Phase III, he should be able to identify and successfully use around 20-25 cards. We have around 20 cards setup in his book for him that he knows and uses. In addition, we have multiple cards in a pocket in his book we haven't introduced yet.

I would say Ayden is at the goal for Phase III right now. He successfully goes to his book to get cards associated with what he wants. We have favorite toys, common things he asks for (eat, drink), and specifics such as milk, water etc. He still requires prompts to use the book instead of pointing, but a simple "go to your book and tell us what you want" reminds him.

I'm so very happy we have come this far in just a couple months. A lot of his groundwork had been laid at school already, but we are now looking at starting Phase IV, which is the phase school wanted him on by the end of the school year based on his IEP. Mr Awesome and I knew he could do it, but actually starting Phase IV is an incredible feeling. Why so incredible outside of the obvious? Well, Phase IV brings us to building sentences. Yes, soon Ayden will be communicating in sentences with us. Even though it isn't with words, it's a big step, one that I'm overjoyed to be starting.

I am planning on taking the rest of July to introduce the remainder of the cards and give me some time to read through Phase IV training plus make the new cards / sentence strip that we need, then plan on beginning on August 1. That gives us an entire month before school starts to work on Phase IV.

Now if I could just get him to answer YES to questions....

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4th Birthday Pictures

Our first year sans birthday party for Ayden, but we had a fun day nonetheless. Our morning was spent in a doctor's office (more on that another time, but nothing to worry about!) then filled with playing in the pool, a trip to the fish store to get Ayden the final part of his birthday gift, dinner out at Pizza Hut, and finally blueberry pie at home. He only had one present to open since we didn't wrap his fish tank, but his Angry Bird (that talks!) was definitely a hit.

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First and Last Day of School 2010/2011

I just cleaned off my point and shoot camera, and ran across the pictures I took of Ayden the last day of school.  I tried to get the same pose as the first day of school.  Even the pictures show how much he grew over the year, I still am very proud of him.  ((Notice that his backpack is not on in the first picture...he absolutely refused to wear it and broke down in tears when we attempted, so it was carried.  By the end of the year, he was putting it on himself.))

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iPad Giveaway - Update

To read more about this developing situation, please read my update here as well.

Very soon after Ayden was diagnosed with Fragile X, I ran across a website via another FXS parent that was hosting a merit-based special needs iPad giveaway.  I don't often enter giveaways online, but this one was something that could help Ayden so much.  I decided to enter him in the contest.  To enter, one either had to comment on the post at this website or email your entry.  I chose to email our entry, basically detailing all of Ayden's problem areas highlighting how he was non-verbal and very behind in fine motor skills and how the iPad would help with those areas.   I honestly didn't expect anything to come from it.  Instead of putting the events of the past few months in my words - I have linked to a direct copy of each email I received from Mike since March 21, followed by a summary of the email.

((If you click on the dates below, you can see each email in it's entirety or see the compilation of all the emails here.))

March 21:   I received an email stating we were one of the forty finalists and that twenty of us would be chosen to receive an iPad.  The email goes onto explain that should more money be raised then 35 of us will receive iPads as well as $500 in software.

May 8:  (Mother's Day)  I received an email stating that all forty of the finalists were chosen to receive iPads.  Also, enough money had been raised for each of us to receive $500 in software as well.  We were asked to turn our software lists in ASAP.

May 10:  Email received telling everyone there were some delays with the legal paperwork.

May 11:  Paperwork is taking longer than expected.  Asked to give name/url to put in announcement for Mike's blog.

May 12:  Notified that blog announcement has been made.  We are asked to mention the new iPad raffle on our blogs if we choose to announce that we were a winner.

May 12 Email 2:  More information about the raffle.

May 20:  Paperwork still not completed.  Asks again for application lists and informs us all will be receiving iPad 2.  Again, asks we promote the new raffle on our blogs.

May 25:  Informed paperwork should be completed on Friday (May 27).

May 28:  Legal paperwork still not completed.  Mike decides to ship iPads without it.  We now are also receiving a $70 apple store coupon for a smart cover.

May 30:  Asked for shipping addresses and a few sentences basically stating that we won't reveal who Mike works for and understand all the care of the iPad is our responsibility.

June 1:  Yet another delay with the lawyers.  This time, it is Apple.

June 7:  An update to Apple's lawyer / paperwork issues.

June 10:  Another Apple update.  Supposed to have the final word later that day.

June 12:  Informed Apple still didn't approve paperwork, another update will occur Tuesday. (June 14)

June 13:  Apple and lawyer paperwork is now done.  Everyone who has app lists in should have their iPad shipped that week.  We are asked to share links for the new giveaway for iPads on our blog.

June 16:  We are given specific instructions on what should be inside our iPad when it is received.  Told to watch for shipping noticies within 72 hours.

June 17:  All ipads have been packed, but not shipped.

June 20:  Informed shipping should happen sometime today or tomorrow.

June 21:  Some iPads have been shipped.  The rest should go out tomorrow.

June 24:  All iPads were shipped on June 23.  Everyone should receive their shipping emails soon.

June 28:  Seven iPads have been received.  No shipping notices, but Mike decides to "take one for the team" and head to his office and see what is happening.

June 30, Email 2:  Traveling to NC from VA but ended up getting delayed.

July 4:  After looking at paperwork, only 15 of the ipads actually shipped.  Mike is going to personally send each remaining iPad out himself and hang around until they are received.

July 5, Email 2:  We are informed that our iPad was not one of the 15 shipped.

July 6, Email 2, Email 3, Email 4:  Asked due to a record discrepancy who actually has received their iPad and who has not.   We are later that evening copied on a "threatening" email to Mike (email 3) followed by an email stating he's made some mistakes but it was a long time ago.  He has also pulled down the donation boxes from Marissa's Bunny.

July 7:  We are informed that no more iPad will be shipped until the threat to his family is identified and resolved.  We are told he is working with the police and lawyers.

July 9:  A summary of the "story so far" by Mike.  This was emailed to the winners, posted on Marissa's Bunny, and also at Love That Max where comments on the post were back and forth by Mike and others.

July 10:  Mike makes a public apology via email to the winners.  You can see the dialog between him and I in this email, but most importantly the end of his second email (sent the afternoon of July 11) where he states "We are going to deliver the iPads to the still interested as soon as I can, and as soon as I am allowed.  If it takes too long, regretfully, I'm going to dip into Marissa's surgery fund."

July 11:  All the winners are informed there are no iPads. 

So where does this leave us?  Definitely without an iPad.  But mostly, I am disgusted and sickened.  I cannot believe someone that is on this same journey with us could be so cruel and just plain horrible.  This iPad was something amazing for Ayden.  It's not something we ever considered purchasing because we just don't have that extra money for things we can do other ways.  Yes, the iPad is better - but for now it's just not in the budget.  We had planned to use it for so many things, visual schedules, social stores, an AAC device, and even for his fine motor skills (which is a huge problem area for him and many other FXS kids).  The key to all this, is motivation. (as is with most Autistic children)  It's so difficult to find things that motivate Ayden to do the activities that will help him but he adores touch screens.  He plays with his little 1st Gen iPod touch all the time, but many apps won't even run on that since it can't be updated to iOS4.  My heart breaks that something we thought we would have access to has now been ripped away from us.  My only small comfort is that Ayden didn't know.  Following some of the other winners, their kids were not as fortunate.  One of them said her son cried himself to sleep last night.  I can't imagine.

There are other things in motion that hopefully can make this, tragedy, not so terrible.  I'm going to be honest though and say I'm not ready to link to them on this blog; however, if they work out it will be a tremendous blessing for so many.  I have no idea if anyone I know donated money to Marissa's Bunny; but I sincerely hope not.  If you did, Mike is saying he will refund your money - but I have small hopes of that happening and am unsure even what part of anything was truth.

I wish there was more I could do, but for now this will suffice for my venting.  I have sent emails to a couple websites (a few of them insanely popular) that mentioned or supported Marissa's Bunny as well, just so they know what is happening.  Most importantly, I don't want this happening again to any other family.  It's just so sad and tragic that someone feels the need to do something like this, for whatever reason.

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The Things No One Tells You

Please take a few minutes to read my previous post about Fragile X and comment to enter the giveaway.  I will be randomly choosing a winner on July 22, 2011 - National Fragile X Awareness Day!

I often sit back and wonder what I would have said if someone told me what my life would be like with Ayden.  How the person I was then would have reacted to the news the my 4-year-old son barely said five words.   Or that I would be sending my three-year-old son on a bus to school, praying that he would be okay.  About how we deal daily with screaming, whining, and tantrums that include hitting, flailing, and sometimes even biting.   How the hitting, flailing, and biting aren't always related to tantrums, but often to anxiety or even to extreme happiness. 

I'm not very confident in the person I was before I had children.  I'm not sure I would have handled it well, because I still struggle, especially with patience.  I always knew that being a parent required sacrifice, patience, and lots of hard work.  I watched my mother do all of these things with grace as we grew up.  I just never understood the full scope of those things until Ayden, because how can you?  Some days I feel as though I will fold under the pressure.  I think of the list we have for Ayden of what we need to work on, and I panic.  I can't even being to count the amount of times I just feel like I'm not enough, that no matter how hard we work it won't be enough for him.  I worry that someday he will look at me and tell me I should have done more and that his life could have been easier if I had just done more.

I think every parent struggles with these feelings in some way.  I reflect on all the advice I was given while pregnant with Ayden - because anyone that's been pregnant knows everyone has advice for you!  (Even that lady behind you at the grocery store you've never met before).  I wonder why no one tells you to find what balances you.  To make sure from the beginning that you find that perfect amount of time that you keep for you so you don't feel like you're only a mother, but to remind you that you are also a wife - and more importantly you are, well, you.  I struggle with the balance, all the time. As a FXS carrier, I know I need to be more mindful of this because carriers are more prone to depression. I try to take time for me, but it always seems like there is something to clean, dinner to cook, a diaper to change; however, I find myself happiest though when I do take that time.  Even if it's just taking a long shower after the kids are in bed, it's time for me to clear my head, to refresh, and to reload on the patience I will definitely need for the next day.

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Do you know about FXS?

Having a child with FXS, it's painfully eye-opening how many people just have not even heard of Fragile X, let alone know anything about it.  Fragile X Awareness Day is this month, so I decided I'd be doing a few posts to educate those that may not know anything about it.   I'll start with just a few simple facts today, but I want to challenge each person that reads this to share the link with at least one other person who has not heard of Fragile X and to comment below when you do.  ((Make sure you read all the way to the bottom so you don't miss out on the giveaway!))

Did you know?......

• Fragile X is the number one cause of inherited mental impairment.
• Fragile X is the most common known cause of autism or autistic like behaviors.  The Fragile X gene is the cause for autism in 2%-6% of all children diagnosed.
• There is no cure for FXS, those that are affected can take medication to help with the side effects but will live with it for their entire life.
• Fragile X is caused by just one gene.  This gene, FMR1, shuts down and fails to produce a vital protein.
• Fragile X affects 1 in 4000 males and 1 in 6000 females of all races and ethnic groups (source CDC). About 1 in 259 women carry fragile X and could pass it to their children. About 1 in 800 men carry fragile X; their daughters will also be carriers.

My goal this month is to spread awareness.  Can you help?

If I receive at least 25 comments by July 22 (the comments must be 25 different people), I will be randomly drawing from the comments listed for you and the person you shared the link with to each receive two dozen homemade cookies or brownies delivered directly to your door.**  That means for each friend you share the link with, you have a better chance to win some yummies!  For those out of state, fear not - for I will pack up the yummies and send them to you by mail.  Unfortunately, you do have to live in the continental US to win. though.  Both you and the person you shared the link with must comment in order to win - make sure your friend states in their comment who shared the link with them!     After some input from people reading this, I've decided to get rid of the stipulation that both people must comment to enter the contest.  If we reach 25 comments, I will pick a random winner from the comment.  If the random winner was sent here by someone else and mentions that person's name, I will giveaway a box of yummies to each.  **edited July 11 7:30 AM EST**

Please also take a couple seconds to "attend" the National Fragile X Awareness Day event on Facebook.  The event is located HERE

**I will also be willing to do a cake or a dozen cupcakes in places of the cookies/brownies should the winner choose, but for those that would need the goodies mailed, they would have to remain unfrosted**

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Happy 4th Birthday, Ayden!

Today, my little guy is four years old. It seems like just yesterday that we were waiting on his arrival, unaware of just how much our life would change with a single glance. Despite all Ayden's differences; he is still one of the happiest children I have ever met. He lights up a room when he walks in, and steals your heart with his shy little smile.

1 Day Old

1 Year Old

2 Years Old

3 Years Old

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Marissa's Bunny iPad Giveaway

I have had a lot of traffic the past couple days in regards to the iPad giveaway sponsored by Marissa's Bunny.  I will be posting the story in it's entirety here when I am more aware of what is happening, but at this time the relevant information is we have not yet received our iPad for Ayden and have not yet been given a date as to when it will be shipped.

Update 7/11/11:  I was informed by email a few hours ago that the iPads promised the 40 families in this giveaway are not there.  I am quite literally sickened by this for so many reasons.  Going to take some time to post our whole story tomorrow.

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