Tuesday, September 7, 2010

Please respond!

I have no time...

yet, I just spent 2 hours online at a Fragile X discussion forum trying to get some answers or at least feel like someone else out there understands what I am going through.

It is weird, because I feel like I was wasting time by being online but, I know it is helping me and my kids by learning as much as I possibly can about Fragile X Syndrome. There is so much out there on FXS. So many different ways a carrier or full mutation of FXS can be affected. It is scary and encouraging all at the same time.

It is crazy how when you find people who are going through similar, worse or easier challenges all at the same time it feels like you can conquer the world with your knowledge or bring them all down with you into your pit of dispair.

I feel alone, often. Marc and I were just talking about this as we have faced new challenges with Fragile X. We feel isolated. Not because people are shunning us. No, not at all. Well, maybe sometimes when people try to avoid our kids, but for the most part we feel isolated because we can't just take our kids anywhere we want to whenever we want to. They get overstimulated, overwhelmed, scared. We can't handle their constant whining or running so we avoid certain things/activities.

So here is the deal. I don't want to feel alone anymore.

I have NO idea how many people even read this blog, and really, it doesn't matter. But, today I want to see how many people read this blog that have done one of the following things:

-Learned from this blog what Fragile X Syndrome is

-Have received information or inspiration from this blog

-If your child or someone you love or know  is affected by FXS in any way (FXTAS, FXPOI, FXS, carrier, autism, etc.)

-Read this blog because you want to learn what a family is like that is affected by FXS (although mostly what you get is the fluff and not so much the poop)

I want you to relate your story in your comment. Tell me how you are affected by FXS and why the information on this blog has interested you.

I want to know who out there reads this because they are affected by Fragile X Syndrome in their lives.

Let me know if you just saw this today or have followed for a while. (Family you can comment too, it's OK, I have like 100 cousins on my mom's side so I am hoping at least a few family members will respond.) (wink)

Let me know that I am not alone in advocating for my kids.

Make yourself heard.

I want to know who you are!

Come on, don't be shy... especially you carriers of FXS... (their known to be shy---ya, I know I don't quite fit that category, but I think I use my outgoing-ness to cover up my fear of not being accepted... ya, whole other story.)


And here is a photo that I ran across as I was going through my pictures. It is one that Pointe Digital took last year at our family shoot and pretty much sums up my daily tasks... glad they got this one! (smile--really I am)

21 remarks:

Aaron and Megan said...

I read your blog often and I have learned a lot about FXS. I think you are inspiring to many people. I don't know anyone else with it but I know a lot of other people with disabilities, and I love to learn from those people. I think it takes strong spirits to live with disabilities and/or take care of those with them. Thanks for your example and sharing your ups and downs with us!

Missouri Bloggin said...

Rachel,

I learned a little of fragile X from your blog. Something I really have never read up on before.
It is one of those things we hear about but until it becomes part of our life we dont read too much into it.
My son was born with gastroschesis. His intestines were outside his body. And like any mom would, I did all kinds of research. At times I felt I knew every last thing the doctors were going to tell me. I was at times expecting more answers...something more. But I never got it.

I know it is something different than what your kids have, but I understand the need to understand. To have people beside you who want to help and have information you need.
You are a strong woman, and a wonderful mother! Remember that God gave you these precious little kids because He knew you were strong enough!
Love you!
Sheena

Shannaly said...

Rachael -
You are the most amazing person I know. I don't usually read blogs or facebook because I just don't have the time but I am addicted to your blog. You keep my life in perspective. I never knew that you have so many struggles with your kids. You always look so classy and put together. Your kids always look clean and adorable. You have a great sense of humor and you have done a tremondous amount of research. You help me to remember that it doesn't matter what a person's life looks like on the outside, you have no idea what they are going through. I always feel like I am a bad mom because my kids clothes don't always look great and their faces are dirty 99% of the time. However I love them and do the best I can by them. Thank you for reminding me of all the blessings I have. I told your mom, you should write a book. You are an incredible person!

Joel and Jessie said...

Hmmmm....I'm your sister I pretty much tell you my thoughts about things in person or over the phone. I don't really know what to comment. Of course I read your blog! I think it is different for me because this isn't my only communication that I have with you. I am sure that you are educating those who don't know about fragile x and helping them!

Bonnie said...

I would fall into that last category -- I read your blog because I too have children with FXS. I know the feeling of isolation. I love your blog and appreciate your comments!

julianne orth said...

No i am not affected with fragile X, but i do read your blog often. It is inspirational to me to hear how you handle such an incredible challenge of having 3 children affected by this disorder. I think you are an inspiration to anyone who is a mom because i feel so overwhelmed as a mom sometimes and hearing your story just makes me appreciate the blessings i have as a mother and no matter what life hands us we can make the best of it. and yes i have learned a lot about fragile X that i would have never known without reading your blog.

wendy said...

I've read your blog since day 1. I love it. It's funny yet real. I have a dear friend with children who all have FXS and see and hear their struggles up close. I have another friend who's child has FXS and another who's child has Autism. It makes me sad to think that you feel that you are alone. I have one nephew and five cousins who all have some form of mental delay or Autism. I may not have it in my home, but I do have it in my life every where. I have learned a lot from reading and talking to different people on these subjects. I know their struggles are not mine, but yet I'm a little envious of the fact that their children are saved. They must have been very special children in Heaven to come down to such difficulties to over come. Sorry, I'm rambling, I'll go now.

Rebecca said...

You know that I am supportive of you!
I think about you often. It's interesting that I feel I have needed to learn to be patient with people that deal with our daughter, because sometimes others who work with young adults/adults with disabilities expect them to learn skills more quickly. I am thankful for this daughter that was sent to me to enable me to grow and become a better person.
Love you! Aunt Becky

Sally N said...

Please consider joining the Fragile X listserv, hosted by FRAXA Research Foundation and Emory University.

There are well over 700 members from around the world and you'll never find a better online parent resource group when you need to connect with others who understand, who are better experts than many ordinary medical professionals.

http://www.fraxa.org/getInvolved_listserv.aspx

Bonnie said...

Oh Rachael I second that about the listserv! It's awesome!

Mariah said...

I haven't responded yet, because somehow I feel quite unworthy to post on this.

I tear up every time i look at that choice picture of you and Sister. It's a blunt reminder of both the way FXS affects her and you. It is a real picture. One that captures a moment of real life. One that can't really describe all of the things that you are feeling, but only begins to describe how this syndrome has affected your life.

Though none of my children struggle with FXS your blog and you motivate me to be a better person. A better mother. Kinder, more patient, and above all less selfish. I have learned many things about FXS that I wouldn't know otherwise.

You have many friends around you. Many things we cannot help with, but be willing to ask when we can. I admire and love you and your family.

Rachael said...

Wow! I don't know what to say, other than those comments were not at all what I expected. I thought things like "ya, thanks for helping me know what FXS is," or "didn't know what it was till I read your blog." I had no idea that all of you would have such wonderful things to say to little ol' me. I am humbled by your sweet words. Thank you. I hope those of you who commented will find this little thank you...

And yes, I signed up on the listserve. I am also grateful to all those who shared this on facebook. Thank you.

Rachael

Rochelle said...

"ya, thanks for helping me know what FXS is, I didn't know what it was til I read your blog" OK that is all true, but I do love reading your blog and getting to know you again after all these years since college, I have always loved you to pieces!! Life is hard and there is no doubt there, but reading your blog always make me laugh!!
Love ya tons and your cute cute kiddos!!
Rochelle

Paola said...

I have been thinking a lot about this post and about how to write down my thoughts, here I go...
I am so sorry for the challenges that come with FXS. I get the impression that I will never have a full understanding of it unless I move in with you for 24 or 48 hours. But I feel so blessed to get the good side of it, like when Sister can’t stop giggling when she sees me and she says I LIKE YOU! I ask why and she says “JUST BECAUSE” things like that melt my heart because we all want to be liked JUST BECAUSE.
On the first day of school I “HAD” to go to check on Sofia during lunch, I wanted to see if she was OK. I walked in the cafeteria and it was as loud as a chicken farm no kidding! As I was spying on Sofia I saw Sister walking with her tray but she didn’t see me, a little while later I saw her sitting on her teacher’s lap and she looked like the noise was bothering her (I learned that here) she didn’t look very happy at all. Right then she saw me I smiled and waived at her and she gave me her cute big smile and her giggles, I felt so much better because I was about to tell her let’s get out of here Sister… way to loud :)
I love your babies, they make me feel special, I feel like they can see right through me and that makes me want to be better all around. I love Baby’s bluer than blue eyes and the way she looks at me when I get to hold her; I love Brothers soft voice and what a gentleman he is. We love you and Mark because you are just so good with people and that is a talent, I love that you don’t look for superficial things in order to like someone. And if your life gets crazy busy and you don’t have time for friends I DON’T CARE we will show up at your door anyway! :) You being the great friend that you are you will invite us in and we will seat and talk until it gets dark *wink* Thank you for the wonderful example that you are to all of us.
And if anyone tries to avoid your children I feel so sorry for them, because they HAVE NO IDEA what they are missing out on!

Paola said...
This comment has been removed by the author.
Paola said...

I posted my comment twice so I removed one :)

Staci said...

After reading Paola's comment I am in tears. She said everything absolutely perfect!!

We don't deal with fragile X exactly but we have been dealing with hypotonia (muscle weakness) and apraxia (speech problems) for the past few years. I have learned a lot from you! It is so hard to know how to help your children and where to go. Thank you for all your much needed advice and encouragement.

Kirsten Amelia said...

I have learned most of what I know from you, my big sis. It's lead me to my own research. Now that I'm pregnant it's hard not to see the future, but I know you will be there for us:) I can't imagine how hard it is, but I see some of that heartache. I'm so glad your my sis:)

E said...

I just happened upon your blog today. I can sympathize with a lot of it. I have a 14 month old little girl who was diagnosed with mosaic fragile x. We found out after having a CVS and I remember how crushed I felt the day they called with the results. I too am LDS and so I had a blessing as it was the only way I felt I could come to terms with her diagnosis and able to realize that I could do enough for her.
Thank you so much for sharing your stories and your life. It means a lot.

Julie said...

I am really glad that you posted this challenge to everyone, Rachael. I started reading about FXS and learned a little bit more. I love that you are such an advocate for your children! You are exactly what they need, a loving mother who understands their needs, triggers, etc. You are an example to everyone who reads this blog, to be advocates for their own children. To be their own children's cheering section, coach, mentor, and guide. Thank you for sharing your life experiences with us!

Brinn said...

Hey Rachael,
I found your blog through Tynelle's and amazingly enough it was the same time our son was diagnosed with autism. Your comments and especially the welcome to holland story has helped in my process of acceptance. Your children are beautiful and you are a wonderful mother. Thanks for your outlook, it has helped me so much.
Brinn (lange)