Fragile X makes it on NPR

This morning, Fragile X Syndrome made the news again. NPR did a great special with FRAXA on their upcoming treatments and the history of how FRAXA came about.

It's only 7 minutes long and can be found by clicking HERE.

News clip from Denver

I came across this video clip from my listserv today and thought it was helpful to share. A local station out of Denver did a piece on a family with a 15 year old Fragile X boy. It's always encouraging for Hubby and I to see older Fragile X kids talking and interacting with adults. The only concern we had about this piece is that we don't think scientists would agree that the "cure" is on the doorstep, as the mother stated, but we continue to pray for it.

http://www.kwgn.com/pages/video/?clipId=2912790&topVideoCatNo=undefined&c=&autoStart=true&activePane=info&LaunchPageAdTag=homepage&clipFormat=

Week 2 of School

Half way thru week 2 of school and Jimmo is going strong. As for Momma...still depends on the day. Mrs. Teacher and the aides have been wonderful. We had our first "Back to School" night this week, which was a great opportunity to chat with Mrs. Teacher and get to know her and how Little Man did his first week. He continues to be excited each morning when I get him out of the car and I have to tackle him to get my goodbye kiss in. The GFCF diet is going well. I definitely think his excema was tied to a dairy allergy. I have found the diet to be sometimes challenging for family dinners. Between the countless number of blogs out there and the library, we're slowly adjusting. It's a much healthier lifestyle so it's good for everyone. The juicing is going well. I've been trying to talk hubby into the Vita-Mix (thanks RF!). This "machine" is amazing and I think it might actually grind up a chouch if I tried. Princess has been testing out some of my concoctions and liking.....some.

When working on communication with Jimmo, we've collectively decided to follow the PECS program. We implemented it this past early spring and it's been going well for him. Essentially we've taken a picture of every toy in our house and one of all the food that he eats and we ask him to choose between 2 or 3 each time he wants something. For example, we have a picture of his toothbrush in the bathroom and he hands me the picture after he sits in his chair to let me know he's ready to brush his teeth. Or at breakfast, I show him a picture of a sliced banana and a picture of his cereal and he takes the picture from me that he wants to eat and hands it to me. Around mid-summer we worked on putting these pictures on felt boards with velcro and having him take them off the board and hand them to us. It's been a struggle over the summer with the boards and he usually pushes them away. He would rather take them from your hand. Today Mrs. Teacher was doing Discrimination trials with him and she devised a way (putting it on a slant) to use the board with success. Below is a video that Mrs. Teacher gave me this afternoon (isn't she the best) that shows him discriminating between a picture of the toy that he wants and a blank card - AND MOST IMPORTANT doing these trials ON the board. And Mrs. Teacher mentioned she started taping after doing it like 20 times and he was still successful.

Great job Little Man and thanks Mrs. Teacher for letting us share our achievements with our family and friends.

First Day of School

I guess Little Man had as much anxiety as his mamma on this day because he decided to get up at 5:40. Oh lovely...poor Mrs. Teacher. He was in a great mood all morning. He ate a huge breakfast and we had fun getting him dressed for his first day. When we were about to leave he got a little cranky so Daddy took him out back for a quick swing. That seemed to do the trick - always does. When we arrived at the school, Mrs. Teacher was there to greet us with a big smile. Jimmo charged right into the room looking for the ball popper that he fell in love with during the open house. At this point I let out a sigh of relief, ahhh, he's going to be fine. We watched for a little bit and gave him kisses and headed out. Another rookie move - forgot his lunch at home but luckily we don't live too far. I laughed when the school secretary showed me 3 other lunch boxes brought in late.


So off princess and I went on our first morning. We thought the only way to conquer our sadness of not having little man with us was to have some pancakes at the golden arches. I have to admit, it worked a little bit. Mrs. Teacher called and gave us a mid-morning update. He apparently had a rough 10 minute patch but a rice cake made it all better. We visited a health food store seeking GFCF flours and various diet items. Then princess had gymnastics. She was the only one in her class so she got lots of attention and I got to sneak a few pictures.

I think it was the longest morning of my life. The time went soooo slow. Princess and I came home and ate lunch and then eagerly sat out front of little man's school 15 minutes before the pick up time. He came running down the hall, glanced at me and then ran past me. OK so at least I got a glance and most important - he seemed very happy. Mrs. Teacher was amazed that someone could fall asleep sitting up and eat his lunch at the same time. That's classic sleep deprived Jimmo for you! His daily report came back great. He ate all his lunch like a big boy and it sounds like he actually had some fun. I think they'll work on shapes tomorrow - ;0) Just kidding.

Today is the first day of "school" for princess. We're doing Classical Conversations together. The format has the parents participate with the children and it meets once a week covering all major subjects in classical model. I felt it was a great fit for our family. Last year she was dragged to therapy after therapy appointment and could have used more 4 year old time. So this year I'm dedicating to spending time with her before she starts kindergarten. Although Classical Conversations is a home schooling class, they have welcomed us to join them for this year.


Thanks for all of your amazing prayers for our family. We will continue to pray for all of you with little one's also starting school - whether it's preschool, kindergarten, 1st grade or 8th grade - BIG STUFF.

Closing Ceremonies

If you're a summer bug like me, this is one of the saddest times of the year. For me I would rather put away Christmas decorations then say goodbye to the pool and suntan oil..oops I mean block! ;0) We actually had a stay at home weekend, which has been very rare this summer. We started Friday night with a walk to Dairy Queen, which princess use to call Fairy Queen and I still sometimes make her say it! Yum! And I packed some GFCF cookies for Jimmo which he enjoyed very much. Luckily he never really liked ice cream because of the coldness so I don't have to feel guilty for indulging! On Saturday we started out with French Toast. Then we watched the most highly anticipated game of all summer - Syracuse vs. Northwestern - first football game of the season. Well that didn't work out too good. And then we did a little grill shopping that evening.

But the big closing ceremony was on Sunday. We took the kids to a nice size water park for kids from ages of 1 to 10 or so. It's about 25 minutes away. We went with our cousins last year and had a blast. We loved it even more this time! There have only been a handful of occasions that we can tell Jimmo is having a GREAT time! This definitely was one of them. He let out more eeeeeeeh's (which in Jimmy language this means - WOW mom and dad - I love this place) then we ever heard. He had a grin from ear to ear the entire time. On the lazy river he was the captain on our boat and I think we went around about 6 times the first time we rode it! They have all kinds of slides for all ages. Princess got a little daring towards the end and rode on Little Pete, but Big Pete still awaits us for next year. We packed a fun picnic lunch and then ate dippen dots on the way home.

And then on Labor Day - we truly "labored" around the house. Hubby put the "almost" final touches on the 1/2 bath and did some yard work. And I, well I learned a valuable lesson. Never ever procrastinate on school supplies and go the day before school starts to Target, Wal-Mart and Staples. Rookie move - I'll get better. But in the end, it's 10:15 and we're ready to go.

Last week visiting Jimmo's school, my emotions continued to be full of excitement. It was a beautiful large, bright room within the preschool. His teachers and aids were amazing. He walked right in and began to play. And not to mention that this is what is best for my Fragile X little man - the constant routine, therapies throughout his day and the ABA program. There are only 3 little guys in his class and one teacher and 2 aides. Could it be any better? Although our doctor and clinic has told us this is the best for him, although we've prayed about this over and over again when making the decision and continue to pray about this.....tomorrow always felt like it was so far away. Tonight my heart is heavy that my little man has to go to school. He's going to school before his big sister - who would have ever thought. I pray tonight that this truly is the best for our boy and he will grow and prosper more then we ever imagined.

August Catch Up

Yikes, this might be my slowest blogging month yet! August WAS a crazy month. We started the month off with VBS. Princess enjoyed herself tremendously. Literally each morning she would jump out of bed and give a yelp – “Today’s Vacation Bible School”. At the end of the week, she told me that when she grows up she wants to be on stage at Vacation Bible School. So Diana – you have a slot filled for 2020!

That evening we left for upstate New York. We stayed in a hotel on the way up to break up the drive. Party time for both little man and princess. Because of how late we arrived we were not able to do our traditional hotel celebration (see Visiting Pap Pap). So instead we ate breakfast in bed the next morning. Not only were they able to eat breakfast in an unmade bed – but they could watch Little Einsteins when they did so. Now this was a vacation! The trip to NY went great. We celebrated Papa’s 70th birthday and we had a new family portrait done. We visited Hubby's Best Friends up in Watertown New York. They have 4 year old triplets so Princess was in her glory. Here are the four of them playing at the waterfront of Alexandria Bay.

Both kids did wonderful traveling. Although I have to recommend 2 items for anyone who travels more then 5 hours in the car with their children. If your child is around the age of 4 – we highly suggest a Leapster. This kept our talkative princess occupied for hours – literally! And it has great educational games. Second, we thoroughly enjoyed the game – Rubber Neckers Jr. Now Little Man was too young to play this game, but the entire car was roaring with laughter as Hubby was forced to try and get another car to give the peace sign back to him.

This month we’re also saying goodbye to our wonderful therapists we’ve had thru the Early Intervention programs. Peggy our PT, Tracy our OT and Jin our Special Educator. Some of them have all been in our home visiting us weekly since Little Man was such only 8 months old! They have all helped us with major milestones and we thank you from the bottom of our hearts for all the love you have for our little man.

But speaking of our therapists….Tracy, our OT, recently attended a listening therapy conference and we started Little Man on this program. I have never heard him be quiet for 30 minutes, but he truly loved it. More to come on this program.

Here he is listening for the very first time - we thought the swing would be the best since he's usually anti-anything on my head. He didn't even wince at the large earphones.

And finally, our update on the Gluten Free Casein Free diet (GFCF). We visited with a Nutritionist last Friday. Her name is Kelly Dorfman and she specializes in Nutrition and how sensory is affected – PERFECT! She was extremely helpful and answered all of our questions. We started Casein Free the next day. We’ll do this for 2 weeks and then we’ll add Gluten Free. Now I thought it would be helpful to give an explanation of what this entails:

Casein Free – Essentially means eliminating all dairy
- Milk in all forms
- Butter
- Cheese
- Yogurt
- Lactose
- Whey

Gluten Free – Eliminating grains that include gluten
- Wheat
- Oats
- Barley
- Rye
- Semolina
- Spelt
- Triticale
- Kamut

Now one might be questioning, why would these people put themselves thru this with a 2 year old. So I’ll give a quick and dirty explanation on why the GFCF diet is popular with special needs kiddos. Researches have determined that a number of children with disabilities are not able to breakdown food like normal developing kiddos do. Some signs of this include the consistency of their “discharge” and the proteins in their urine. Proteins consist of long chains of amino acids. A normal intestine can break the bonds between proteins and amino acids properly. There are studies showing that because of mutations, these kiddos incomplete digestive systems leave amino acids bound into short chains called peptides. If the enzymes designed to digest wheat and milk are not functioning properly the resulting peptides could still be biologically active. So essentially they can’t break down the proteins in casein and gluten. This is not proven medically or course, however we’ve heard so many successful stories with FXS kids so we figure a diet is not harmful and worth a shot. Now we’re also well aware that with Fragile X, we’re talking about a chromosome issue and it will definitely not be cured with a GFCF diet. However what we’re seeking is little man to have relief from some of the autistic like symptoms that cause him more trouble then he already bares for learning activities. It’s also been shown to help with speech and general motor planning. So we’re giving it a trial session for a month and a half and we’ll re-evaluate and see where we are. It's so nice to have another family member on this diet - Auntie D has been using it for medical reasons and has had great success. I still have not found a pre-made bread that is GFCF that tastes decent, but I’m on the prowl. Oh LL why did you leave me!!!!

The nutritionist has also suggested eliminating all juices, so essentially all the little man can drink is water throughout his day. And don't worry milk lovers - we're taking a calcium supplement drink. But since veggies have always been a struggle with little man, we decided to follow the lead of our Uncle Jeff and take a stab at Juicing his veggies. This way we’re still getting them down and it’s another drink alternative. My gracious OT, Tracy, let us borrow her juicer for the time being. Because he’s so orally sensitive, he loves to drink, so the nutritionist agreed this would be a perfect fit. So on Saturday, hubby and I mixed up his first Veggie Cocktail. One Beet, 8 pieces of Kale, 2 Carrots and an apple. Little man slurped this down in seconds – we stood there in amazement. So a juicin we will go! The grocery clerk looks at me like I’m crazy and has to ask me what most of the items are. The diet and juicing do require weekly trips to Wegmans – darn! ;0) I just got a few books out on the library and hubby is researching juicers. We’re looking at the Breville Juice Fountain Elite…if anyone has any input we’d love to hear it. We also welcome more GFCF recipes or juice recipes!

Drinking his first veggie cocktail!

And finally school starts next Tuesday for little man. We had our open house today and it was quite exciting. The classroom is bright and large and the teacher seems wonderful! We’re truly excited for this stage and are anxious to see how he likes it! Thanks for reading and your continued support and prayers for our family!

Ta Ta for now

Back from the Conference

What an amazing time we had at the Fragile X conference in St. Louis. Thank you all for your prayers for us. We left early early early last Wednesday and I don't think Momma got more then 2 hours of sleep that night. I have never left my little people for 4 nights and 5 days. I knew it was for the right cause and we had to go, but it's still hard to leave so anxiety got the best of me. We left them in wonderful care with Gran Gran and Papa. I think I let go of everything by noon on Wednesday when we checked into our hotel and our lovely room was pool side. Not that we ever had time to go to the pool, but just to know your pool side was sweet enough for me. The kids did amazing and so did Gran Gran and Papa. They even took a field trip...to Wegmans of course!

We kicked off immediately with sessions upon arrival. Our first was within an hour of check in and this continued each day from 8-5PM thru Saturday. Over the course of the conference, hubby and I went to a total of 35 different sessions on all the various components of Fragile X. Everything from genetics, school immersion, school transitions, special needs school laws, Hyperarousal/OT, Speech therapy, Behavior therapy, Financial planning, Dealing with family, New treatments, Sensory Diets, Testing Guidelines, Sibling Strategies, Visual Strategies, Pharmacology, Music Intervention...to name a few. As we mentioned before, this was a conference of all the top doctors, researchers and therapists who specialize specifically in Fragile X. A rarity, to say the least! We met dozens of families from all over the country. Only one other family, who we already had met was represented from Northern Virginia but we're still scouting!

So after these wonderful, intense, emotional and extremely educational sessions we decided to take advantage of this downtime for some date nights. One night we went to a Cardinals game (oops forgot my camera this night) but we had a blast. It felt like the old days for sure! The next night we went out to dinner and then to visit the infamous St. Louis Arch.

On the last night they had a Gala, hence our attire, which was a great way to end the conference. They announced the next conference in 2010 will take place in Detroit - woo hoo - Motown city. They also had a raffle and silent auction where my sneaky and loving hubby won some jewelry for me and Disneyworld passes for our family. There were a good number of middle and high schoolers with Fragile X at the conference. It was comforting to see them and how they interact with adults. We definitely saw a wide spectrum of kids but it helped us understand our future just a tiny tiny bit more.

Our flight home was great because hubby begged the Delta desk for an earlier flight so we could see the kids before they went to bed. It was so wonderful and overwhelming to be at home. The millions of videos and sessions we had watched and heard over the course of our past few days was actually very real, right in our living room. Little man's mannerisms can sometimes be translated as, oh he's still a baby. But this conference made everything more clear for us and helped us realize that he's not going to grow out of them and we'll see these over the course of his life. So re-entry was a bit of a shock for both of us, but now we're equipped with more information then we ever imagined and hitting the ground running.

OH and hooray - we signed our IEP yesterday morning! Little man starts school Tuesday, September 4th. And NO he's absolutely not riding the bus. His Momma will drive him until he begs and pleads her for it!