Monday, August 29, 2011

A Boy and his Fish

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As I briefly mentioned here, we got Ayden a fish tank for his birthday this year.  Ayden ADORES his fish.  They get a good morning immediately when we go downstairs and he will sit and watch them and wave at them multiple times during the day.  He blows them kisses at night even.  I'm fairly certain those fish loved him just as much...one of them let him touch it and the other swam to the side of the tank when Ayden approached.  It was a weird and special relationship, I've never seen fish act like they did.

Through a series of crazy events, 2 of our 3 fish died Saturday.  We waited until the kids were in bed to clean them from the tank, Ayden didn't seem to notice when he went to bed they were both laying on the bottom.

The next morning, Ayden came downstairs to a mostly empty fish tank.  (The catfish was there, just laying on the bottom of the tank like always).  I was hoping he wouldn't notice too much, but I quickly realized that was not the case.  I saw him run to the tank and stop mid-wave.  Then look around the tank, running to both sides.  He then pointed at the tank, and looked at me, then pointed again.  I think my heart broke a little with the look on his face.  It was very clear he knew his fish were missing and was not happy about it.  I quickly distracted him with food and then followed with the iPad hoping he would forget.  However, the scenario repeated itself multiple times throughout the morning.  Mr Awesome and I decided we needed to get some more fish that day.  I think we were both surprised at just how sad Ayden seemed that his fish were missing.

We did get more fish (the non-aggressive type this time), and while Ayden was happy he was still looking around for his other fish.  We explained that we sent Bully Fish to the hospital (I know we said some other things, but can't remember exactly), I'm not sure he understood really but he seemed to accept the new fish and by this morning has stopped looking for his other fish and waving like normal to the new fish.

While I'm not surprised Ayden noticed his fish missing, I was taken back at how sad he actually seemed as well as how he grasped that his other fish weren't coming back.  It's extremely difficult to teach a child about death anyhow, but when he can't talk to me and ask questions I just wonder what exactly he is thinking when he obviously realizes his fish are gone.  I think we handled it the best we could, and yet I still wonder what is inside his head.  For now though, I am content that he is happy with his new fish. 
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Sunday, August 28, 2011

About a Video...

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I had this video shared with me by a friend...and wanted to share it here as well.  The video creator goes over some numbers, that I want to add Fragile X to as well.

Leukemia affects 1 in 1200.  Funding: $227 Million
Muscular Dystrophy affects 1 in 100,000.  Funding:  $162 Million
Pediatric Aids affects 1 in 300.  Funding:  $394 Million
Juvenile Diabetes affects 1 in 500.  Funding:  $156 Million
Autism affects 1 in 100.  Funding:  $79 Million.

For 2010...the National Institute of Health (NIH) had a budget of $35.6 Billion.
$218 Million of that went towards Autism research, $29 Million to Fragile X research.

**NIH numbers taken from here, Prevalence numbers taken from here.

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.

I certainly don't believe Ayden can be "fixed" and there probably will never be a "cure" for Fragile X or Autism  - but the research out there can help make life better for these kids, easier, more normal.  It's this funding that can bring that much needed research and development about, and for that there can never be enough.  I hope you take a few minutes to watch this video, it's well worth it.





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Thursday, August 25, 2011

iPad Update, 1 Month Later

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I have been meaning to do an update on our iPad for a while now.  As I was going to title this post, I did a quick check to see how long it's been and surprisingly it was exactly one month ago today that I posted our first update!

So, here we are one month in. Ayden's time is closely monitored on the iPad because he literally could playALL DAY without stopping.  We usually do about an hour a day split into two sessions (morning and afternoon).  He is required to play with other toys in order to get his time, so in a way it's used as a reward.   It's especially interesting to me that it calms him as much as it does.  Normally speaking, video games shouldn't do that.  Our FXS doctor actually recommended not allowing any tv or video games an hour before bed or nap when discussing sleep issues.  It is quite the opposite with Ayden and we find he will fall asleep much better or be more calm after playing (if he tolerates his time being up).  With his anxiety issues, any kind of activity that he can do himself to calm down is fantastic.  We were given a bean bag chair by Ayden's uncle, and I also try to keep one of his iPad sessions in that chair as well.  Double sensory calming?  Yes, please!

I've said before Ayden says about 5 words, but none of them consistent and certainly not spontaneous.  He has quite officially begun saying his first consistent word and using it properly without prompting.  It's usually the first word out of his mouth in the morning even.... "iPad!"  I'm sure he'll love hearing this story when he is older too!

Onto the apps....  I'm going to start reviewing some of these Ayden plays a lot soon, first I want to figure out how to screenshot them a bit. I should know how..but haven't sat down and figured it out yet.  We'll get there though!

We have a decent amount of apps for Ayden to play with right now.  First among those is Angry Birds.  It's the first app he went to, the first app he asked for...and definitely the first app he plays when he sits down.   We let him saturate on Angry Birds right away at first and didn't force him to do anything else.  I've learned from experience that letting him get to the point of realizing he's "done" with something is much easier than forcing him.  Our entire day will be ruined if I force him, and that just isn't good for anyone.  It took a few weeks, but he slowly started moving into other apps.  I was really focusing on letters, numbers, colors, and shapes when looking for apps to add - and let's just say there are a TON.   I was fairly certain Ayden knew these things - but output is so difficult for him without proper motivation.  I am ecstatic to be able to say now that he definitely knows all his letters (upper and lowercase), at least the numbers 1-5 (I'm actually thinking it is higher, but he doesn't play with number games much), all his basic colors, all his basic shapes, can match similar objects, play memory games, as well as identify most farm and zoo animals.  Oh, and he can put together 20 piece puzzles.  He's also starting to understand different emotions.  This seems like an odd thing to know, but one of the apps he has shows you a face and says if it's happy, sad, mad etc...  There is a lot more I've noticed, but these are the big ones for us.  Basic skills that most 4 year olds have, but I wasn't sure we were there with Ayden.  Being with him all the time, I suspected he knew all this, but to SEE it.  To know without a doubt he understands, he comprehends...it's amazing and wonderful and just leaves me speechless. 

When I was explaining about the contest that started all of this for us...I said this:

"To be certain, it [an iPad] is 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."
Today, I am officially eating my words.  I could never have dreamed that this device could bring so much joy to Ayden as it has.  I couldn't have imagined how much it would positively affect our lives.  I certainly wouldn't have thought after just a mere month that he would be giving us the output he is and continuing to build on that knowledge and learn in a way that we can watch and see progress and track.  Most children have their voice and communicate their knowledge in that fashion.  For Ayden, that iPad is his voice right now and what a beautiful voice it is. I love the fact I can get a glimpse into the head of my 4 year old in a way he enjoys.  I couldn't have ever asked for a better gift for him or for us.
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Tuesday, August 23, 2011

4 Year Well-Baby Visit

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We finally had Ayden's 4-Year well-baby (child?) visit this last week.  To say it was traumatic (for me) would probably be quite an understatement.  We had to reschedule this visit, which is why it is so late, and ended up having our appointment with the "new" doctor in our practice instead of our normal pediatrician.  We used to have a nurse practitioner at our office as well as our normal pediatrician, but she left back in January and since then it has been difficult to get into the doctor.  It's nice to have the option of seeing someone else if need be, but we will not be seeing this particular doctor EVER AGAIN.

Obviously, Ayden has a decent amount of developmental delays.  Our visit to the FX Clinic back in May included many evaluations and our doctor's office has all those on file.  I know exactly where he is behind, what month he is testing in for all areas of development and essentially more about Fragile X then most people around.  I live it, it's expected.  I certainly don't expect our normal pediatrician to know as much as I do about it, but expect that she will take suggestions I have into consideration and research them if need be.

So, the first thing this new doctor has me do is fill out a basic "What is your child doing?" evaluation.  I've filled out a ton of these, and breeze through it.  I know he's behind, I don't need a test to show me.  I'm a bit annoyed I have to fill it out given the records we have on file, but whatever.

Ayden is doing pretty well at this point as our appointment was during his normal nap time.  He has sat through me filling out this evaluation, made it back to the actual room with the nurse, and had his weight/height taken without too many issues.  Overall, very good for him.  His anxiety level at this point was very low.  I went over the things I wanted to cover with the doctor including finally getting our referral to the speech and occupational therapy programs at Sparrow Pediatric Rehab.  They happen to be the ONLY speech therapy in our area that takes insurance and have a 6 month waiting list which requires a doctor referral.  I also wanted to discuss the possibility of Minocycline and ask our doctor to do some research for me, of course providing her with some articles explaining how it can benefit FX children.  We haven't decided we for sure want to try it, but I wanted our doctor's opinion after she looked into it.

Nurse leaves, new doctor comes in.  He immediately approached Ayden without saying anything to me and touched his face asking what the two marks on it were.  (They were mosquito bites).  My ultra low anxiety Ayden now hits the roof and begins flailing and screaming.  Issac, who hates his brother like that of course tries to help by handing him anything he thinks Ayden would like making it much worse.  Meanwhile, new doctor is talking over the top of screaming - STILL has not introduced himself.  Uh....really?  My annoyance level is now also pretty high. 

I do get Ayden calmed down, fairly quickly for having had a stranger touch him without warning.  Heck, I can barely touch his face with out telling him first and even then he barely tolerates it.  The doctor now says to me...and I want to quote this.... "So, he's autistic or something?".  Jaw. drop.  I expect that from strangers.  I expect that ignorant people.  I DO NOT expect or tolerate that from a pediatrician who HAS MY CHILD'S CHART IN FRONT OF HIM.  I very calmly explain that no, he has Fragile X Syndrome with a dual diagnosis of PDD-NOS and all his paperwork should be in his file.  His reply "So, he's autistic.  Ok." then immediately launches into a lecture about how I need to get SSI for Ayden and other supplemental insurance because I'm doing him a disservice by not having those things available to him.  In the midst of this, he explains how Ayden's Early On teachers are also terrible and not doing anything they should - also tells me we need a caseworker.  Did I mention he still hasn't introduced himself or even asked my name?  I am BEYOND frustrated at this point.  For anyone to tell me I am doing my child a disservice by not taking government money that we DO NOT NEED is beyond arrogant.  To then tell me his wonderful teachers are terrible is just another thing entirely. 

So, frustrated, annoyed, and totally flustered now.  Doctor beings going over the developmental evaluation I filled out.  Tells me Ayden is severely delayed.  (No kidding?  Did you even read the Fragile X stuff in his file, it's pretty detailed).  He tells me Ayden's percentiles which the nurse already went over and then starts checking Ayden out.  Of course this part is terrible, but I instruct him how to do it the best way and thankfully he does listen.  It's never pleasant, but necessary.  I decide while this is happening to totally skip the minocycline talk - I'll have it with our actual doctor later, it's not imperative anyhow.  I do; however, need the referral, which seems like it shouldn't be a problem.  Doctor gets ready to leave and I remind him of the referrals for speech and OT.  In yet another "really, you are a doctor" moment - he says "Why would you need that?"  I am SO DONE by this point, so I'm sure I was rude.  I explained SPR needed the referral sent directly from the office and wouldn't accept it any other way.  He was insistent that the FX Clinic we went to should have done this for us to which I very firmly told him he needed to write it out for us.  He still only wrote up a prescription, handed it to me and left as he's telling me the nurse will be in for vaccinations in a few minutes.  You know, the first time he mentions it at all.  I had no clue, so didn't have time to even ask which ones he was getting.  In retrospec, I should have checked...but I was so flustered already.

Vaccinations are always terrible for us, and Ayden needed a total of 4.  It took 3 of us to hold him and 1 nurse to administer the shots.  It's the first time I've ever cried during shots...it was just terrible.  I know it's needed, but it was difficult this time.  Even with all of us holding him he still moved and got a nice scratch from one of the needles.  Just a very sad end to a terrible doctor visit.  Now...back to the vaccine part - I  rarely refuse vaccination, but I had turned down one that I decided not to have him get.  I can't remember which one it is, but there is one that now covers a new strain from when Ayden has his, so he essentially would be getting an "extra" dose.  I wasn't okay with that, so I turned it down after checking into it at Ayden's last visit.  We put it on the chart, so I guess it didn't cross my mind to double check.  The risk is small, it's not required, and it was an extra dose I just didn't feel comfortable about.  Somewhere in the midst of the chaos that was his appointment, this doctor decided to give Ayden this vaccine anyhow.  Without telling me. Not a happy mommy.  I don't know how it slipped by the nurses, but the damage is done now.  I feel like he probably told them I ok'd it, because our nurses are amazing and have never made a mistake and ALWAYS respected my wishes.

I did have a chat with the nurse after the vaccinations were done.  We were lucky enough to get my favorite nurse, and I politely asked if this doctor would be a permanent addition to staff.  Luckily, he is temporary and only works a few days per week.  We now have it listed on our chart that we don't ever see him.  I of course checked to be sure our normal pediatrician was not retiring with new baby on the way, if so we definitely would look into another office.  Thankfully it's not in the works...and more doctors in our office are.

Now, I'm sure reading this very negative post you realize it's a fairly uncommon thing for me.  I do, in fact, try to keep this blog very upbeat.  This visit was just so off the wall, and not normal.  My reason for sharing is simply to let others know these type of visits DO happen.  And they are most definitely not normal or okay.  No one should ever leave a well baby visit  feeling like this, so if you are then please do yourself and your child a favor and find a new doctor.  I think so many times with insurance we can forget that we are customers and should be treated with respect.  Of course doctors often have to say thing we don't want to hear, but the manner in which they do it and the way that treat us and our children is very important.  I know, personally, we are very thankful we have an amazing pediatrician.  Given the fact the whole office is so wonderful, I doubt it will be long before this doctor ceases to be a part of the office.

Until next time...
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Monday, August 22, 2011

Annual Visit to Nana & Grandad's House

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As I mentioned last week, we had a very good time visiting my parent's house with the boys a few weeks back.  I know changing locations and not having Daddy around is always difficult on Ayden, but he really did very well.  We had a couple of very exciting things that really may be a highlight for me when thinking about Ayden and his progress this summer.

First,we attended our hometown summer fest.  To say this is sensory overload for Ayden may be a small understatement.  Loud music, lots of people, high noise levels....it's one of those types of things we usually avoid with Ayden because often times it ends in a lot of screaming and meltdowns!  We decided to try it this year though.  I know, I know...you other FX moms are cringing right now knowing what this usually leads to.  We had a decent location since my parents are directly across the street from downtown, so it was easy to just leave if it got to be too much.   We did our "trial run" before the BIG show on Saturday with the waterball tournament.  Waterball is kind of like tug of war, but you have a ball on a string that you shoot with a fire hose to get to the other team's "goal".  It's a lot of spraying water...and since both the kids love that I figured it'd be a good mix even wth the crowds and noise.   I was not disappointed!  Ayden did FANTASTIC walking over just holding my hand and enjoying the water/spray in-spite of the large crowd and dogs around us.  The best part of the whole thing was he came up to me and told me he was all done!  He signed all done, then asked to be picked up.  We pushed him a bit after that so little brother could look at race cars and the train on the way home, which did cause some screaming, but overall it was a big WOW for us and such a huge improvement for Ayden.  Saturday went much the same while we walked the car show, except Ayden sat on daddy's shoulders and just relaxed and had a good time.  I was so happy and proud of him!!

Second, I should explain with this next one that Ayden has some severe texture issues.  By severe texture issues, I mean he has a difficult time even walking down a sidewalk that changes from cement to brick.  Walking on grass has not even been an option until just recently, and even then it's with a specific purpose like "I'm getting my toy".  He also has issues with things he touches, such as tennis balls, play-doh, etc.  Anything different really.  We have to work a long time to get him touching other objects that don't fall into his normal everyday textures.   The other thing he's had a problem with is dogs.  He had a dog scare him when he was about 18 months old and since then it's like been a lot of meltdowns for him to even see a dog.  This has slowly been improving thanks to a couple dogs, namely my parents and our friend's dog who are both very well trained and great with the kids.  So, how is this all relevant?  Ayden, multiple times over the time we were at my parent's house went outside, on the grass, and was throwing a tennis ball around to their dog which he then chased around.  And he was smiling.  And having FUN.  Without being prompted.  It seems like such a simple thing, but it is HUGE with Ayden.  Just one of those things would be a big step for him, but all together....it was amazing to watch.  He even picked up the tennis ball when it was slobbery.

He just did so well the entire time we were there.  I love that we are finding that balance for him and being able to go out and for him to enjoy himself.  Watching him be anxious and scared of things most kids enjoy has always been so difficult on us, but now we're enjoying each second that he improves.

I do have some fantastic pictures to share, and will post them later on.  I haven't even had a chance to pull them off my camera we've just been so busy.

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Friday, August 19, 2011

Decisions - A Guest Post

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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!
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Thursday, August 18, 2011

Other Fertility Options

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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. 

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Wednesday, August 17, 2011

PGD and Fragile X

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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.

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Monday, August 15, 2011

Fear Not...

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Took a week from posting while we were on vacation at my parent's house, but am definitely still around.  We have a busy day today, but normal posts should resume in the next day or two!  I'm so excited  to continue with the pregnancy/fertility series and even more excited to share a special guest blog post very soon as well.  I also have some exciting Ayden updates and pictures to share - so stay tuned!
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Thursday, August 4, 2011

Decisions Pt. 2

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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.
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Tuesday, August 2, 2011

Decisions Pt. 1

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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.  
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Monday, August 1, 2011

Behavior Modification

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I try not to do a lot of posts when I am frustrated, since I strive to keep this about not about how I'm feeling day to day but about Ayden and Fragile X; however, I can't deny that those two things bring many frustrations for me (especially together).  I'd been thinking about my next post here knowing I needed to update how Ayden was doing, and it just wasn't what I wanted.

I look back at the past month and see us with the same disciplinary issues we had a month ago, even two months ago.  We're doing all the right things - being consistent, disciplining when necessary, being firm - but nothing has changed.  In fact, I'd say it's gotten worse in some areas.  I feel like I haven't been doing enough, like I need to focus more time on him and his needs.  His behavior is telling me something, but I just don't know what and I feel...stuck. lost.  hopeless.  tired.  overwhelmed.

I go through this with him every little while.  This whole journey is definitely not peaches and cream, it has it ups and severe downs.  I hit these downs and wonder where we go from here.  Then I remember to take a step back and analyze because something isn't working how we want it.  I remember that I can do this, that I am the best choice to do this.  Most of all, I remember that he needs me and if I don't help him over these mountains then who will. 

So...time to analyze.  We have a couple behaviors that need to change. 

1)  Ayden is still pushing baby brother all. the. time.  He has been doing this since Issac started walking, but it isn't everyday.  I feel like it was better for a short time, then maybe got worse again this summer.  Sometimes because Issac is in his way, but almost always there is no (apparent) rhyme or reason.  The discipline has always been corner, then telling brother he is sorry (this is done with a hug and kiss).  We attempted to switch these two corrective things around but found the corner to be less effective then.  It's important to note Ayden does not push anyone else.  Not mom, not dad, not kids at school.  This behavior is specifically directed at brother and only occurs with brother.  I think the correction to this problem lies not in modifying his behavior (I mean, that is quite obviously not working), but attempting to modify what is causing the behavior.  Problem is, I have no clue.  So, my first task is going to be identifying what is causing this behavior. 

I am feeling a little better already.  Sometimes it just helps to talk it through!

2)  Our second behavior is a bit more difficult because sometimes it is related to his inability to communicate, but the behavior we want to change is when it is related to him just being, well, four.  Ayden will stand there and whine for hours sometimes.  Whine, cry, scream, flail...they all usually come together.  I know when he gets frustrated and can't tell us what he wants these things occur.  I see those instances occurring less often though as we progress farther into PECS with him and am beginning to know the difference between a tantrum from not getting his own way and a tantrum from being frustrated.  It's much easier when kids can say "no" because at least you know exactly what they are saying no to and can act appropriately!  I think our first step to this is consistently directing him to his PECS book when he whines, and making/teaching him new cards to help with emotions.  I think after he can start identifying what he is feeling, it will be easier for me to say "I know you are upset that you can't do X, but you can't act like this when you are upset - do this instead."  At that point, I will then know it is a tantrum and can discipline appropriately if needed.  This whole process will teach him a) emotions and how to communicate them b) how to redirect his anger in an appropriate manner and c) the inappropriate manner of directing his anger towards others by whining and crying is not acceptable and will be punished.

Having a plan in place can be so helpful!

Our last stretch of summer it seems is going to be a lot of behavior modification, and of course more PECS.  Both good things, and hopefully putting Ayden in a really good place for school starting next month.  Really, he's already on Phase IV of PECS - when the goal was to have him completed with Phase IV by the end of the school year.  I'm infinitely glad we have an IEP change coming up in October because hopefully he will have completed that goal by then! 

I know this isn't an easy ride for us, or anyone dealing with FXS for that matter.  We certainly have our bad days (and sometimes weeks) around here but the joy we receive is just so much more.  I often stress over bad days, falling into bed at night mentally and physically exhausted just hoping tomorrow will be better.  I'm so thankful on those days to have the support that I do because sometimes tomorrow isn't better.  I've learned to bask in the good days though and take the bad ones as they come.  They are inevitable, so it doesn't help to curl into the fetal position and try to escape (even as nice as it sounds!).  Ayden has Fragile X, but I will not let it rule or ruin our lives.  I will do what I can, we will fight and we will win..  Ayden will win....and that is what matters.
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