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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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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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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