Adventures of a Saturday Night

We look back at this past Saturday night as one of our funniest nights....post children, so we thought we would share these laughs with our faithful blog viewers!

We cancelled our babysitter for the evening, which in retrospect was a tremendous blessing for us and our sweet babysitter. We decided instead to do an "in house" date night. We do these about once a month. We'll go to Wegmans and buy something we normally wouldn't buy in our weekly shopping and a bottle of wine. After we put the kids down we cook together and then enjoy our meal and either a movie a game of Yahtzee or scrabble. So for this Saturday night we bought some flank steak and marinated it all day and we planned to make a yummy balsamic steak salad with a bottle of Merlot - YUM.

So about 6PM we fed the children. I boiled up some Trader Joe's pesto gnocchi. Little man inhaled them as usual, but our princess was struggling with them. She kept telling us they were spicy. She tends to sometimes be a little dramatic, by the way we have no idea where this comes from, so we dismissed it. We made her finish the gnocchi and she soon started complaining her stomach hurt. I ran to the gnocchi packaging and almost fell over - I can't believe what I've done. Our daughter reminds us that she is allergic to nuts about 10 times a day. In fact, after we made her finish the gnocchi, I gave her a cookie left over from bible study the night before and she said "Are there nuts in here"? I said "No sweetie, you never have to worry about Mama giving you something with nuts". HA. So apparently Trader Joe's makes their pesto gnocchi with cashews - which is the EXACT nut that she is allergic to. She has had pesto in the past, but pesto made with pine nuts which she is not allergic to. So here we go - this is going to be an interesting night and the guilt was piled on high!

We proceed to take both children up into the bathroom. Little man is in the tub and princess is whaling that her stomach hurts but she doesn't want to "puke" as she says it. About 10 minutes into this, the power goes out. Splendid! So I get little man out of the tub, put jammies on him, while hubby runs around getting candles and flashlights. I lit a few candles upstairs and found another flashlight. About 5 minutes later, the fire alarm goes off. We just figured it was because we lit a few candles upstairs and we also knew our alarms are a bit sensitive. Fire alarms are made for a reason, and unfortunately they were sending us an accurate message that we just decided to ignore. A few minutes later I started to go down the stairs and I clearly smell what the fire alarm was trying to tell us. I start running and yelling hubbies name. A beautiful candle with herbs and flowers molded in the wax around the sides, was in full blown flames in the hallway. The beautiful herbs and flowers had caught on fire. Luckily we tended to this just in time and damage was prevented. WOW - ok what's next?

We put little man in his room to bed and tend to our poor whaling daughter as the stomach pains come in flows. About 45 minutes go by, and after talking to a neighbor pediatric nurse and NOT getting thru to the pediatrician that is on my "not so good list", she says she's tired and wants to go to bed. So perhaps there were just traces of cashews in the pesto and she's not really going to vomit. Last time, when we found out she was allergic to them, it was an immediate response. A few hives formed this time, but nothing like last time. So she climbs into bed about 8:30PM and we go downstairs to make the best of the remainder of our date night in the dark. We started playing Scrabble as we ate our peanut butter sandwiches - not so yum. I sort of had an uneasy feeling about the evening, and was not really into the game. At least this is what I told hubby since I was not having a good Scrabble night - 5-6 vowels at all times. We decided perhaps it was best to call it a night and go to bed early. It was only suppose to be a low of 30, so hopefully we could stay put in the house without heat all night, but you never know, a hotel might be in our future.

We just settled down for a long winters nap when we heard the princess cry. And yes indeed she did vomit. I'm amazed how it was able to touch every comforter, blanket, sheet, pillow, stuffed animal and the chair next to her bed. After an hour of cleaning we get her nestled in bed and she's feeling much better. And the power come back on! We breathe a sigh of relief that we now have heat....almost asleep....and then little man wakes up. Now when little man wakes up, it's a whole different story. One of the characteristics of Fragile X is called Hyperarousal. Some children, him being one of them, have trouble if they wake up in the middle of the night, settling back down. On a scale of 1 to 10, we wake up and at an arousal level of about 1 or 2 and usually settle back down quickly. Jimmo wakes up at level mock 10 and wants to play and yell and play and yell some more. So we go thru our routine when this happens, and a few hours later the entire family is fast asleep for at least a few hours before morning.

Now we look back at this evening and laugh - really - could all that seriously happen in one evening? I think in a few years we'll laugh even more!

And don't look too close at the board.....it was a tough night for Scrabble :0)

Best Friends

The term "Best Friends" is heard often around our house, as our daughter likes to often tell us we'll be her best friend forever and ever. I actually have this on video, and can't wait to show it to her when she's 17 and resigns from the "mama is the best person in the world" fan club. OK maybe at 16.

But this entry is truly about best friends. Hubby and I collectively over the years have friends from different stages of life.....Grade School - High School - College - Various Jobs - Church. It's truly such a blessing to have these friends in our lives. Although my parents didn't feel it was such a blessing when it came time for our wedding guest list, but that's another blog post! But this is about a certain type of friend. The kind of friend that you might not have seen in many months but when you do, you pick up like it was yesterday. Years later the same stories are just as funny and new memories are perseved each time you're together. During this busy season of life, we cherish the small little nuggets of time we have with them.

Well hubbies best friend flew in today from Watertown, NY. He left behind his sweet wife and triplets to come spend the evening with hubby. We only get to see them about once a year, but love them dearly! So hubby and friend just departed for a Syracuse/Georgetown game. Yes, he's from the Syracuse area, season ticket holder at that, but flew to DC to watch this game together. Can you say - HUGE FANS! They know every statistic about their teammates /opponents from hometown to three point field goal percentage. I sit and listen to the two of them talk in awe. But I LOVE that they do this each year. It's so important for both of them to have this time together.

Thanks for visiting....we love and miss you all! Go CUSE!

Trading germs

Apologies for our lack of posts this week. An ugly cold hit the Grande family one member at a time and we're still on the road to recovery

Be back real soon!

P.S. not sure how we all got sick, its not like we ever go to the Park in January!

Big Boy Swings all by himself....kind of!

What a beautiful Sunday we had! About 55 degrees - perfect for a walk to the park. Our little man surprised us this afternoon. He went on the "BIG KID" swing for the very first time and loved every minute of it! He protested with screams when it was time to get back in the jogger. Still not too steady on his own, but it just tickled my heart to watch him swing as he watched his big sister swing right next to him. The walking is coming along. He now wants absolutley nothing to do with his walkers, but just a finger or a passer-by shirt/pant to hold on to. We can't wait to see him take off and hope to catch it on video so we can share it here!

HAPPY NEW YEAR

Welcome 2008...


The kids enjoying mom and dad's hats from the night before....

who knew how much fun a crown could be!

Genetic Lesson & NEW Discovery in the Fragile X World

This is going to be a bit technical - but the news is well worth it! We promise we'll do some fun family entries soon.

First, it would probably help to give a little refresher in genetics and some history on how Fragile X Syndrome (FXS) is identified. All children receive 23 chromosomes from each of their parents, on which all our tens of thousands of genes are arranged like beads on a string. The 23rd pair, the sex chromosomes, differ between males and females. FXS is a single-gene disorder located on the X chromosome. In FXS, a gene called FMR1 suffers a mutation that shuts down the production of a protein - FMRP which is crucial for proper brain functioning. This protein appears to act as a brake on the production of other proteins in the brain, including those associated with learning and memory. Without enough FMRP, protein production spins out of control like a runaway train. The brain develops an abnormally dense number of connections, resulting in a variety of physical, mental and behavioral problems.

Because Jimmo is a male and only has an X and a Y chromosome, he is truly lacking this protein. This is why most boys with FXS have cognitive disorders. If a female has FXS they have another X chromosome, inherited from their father, which usually is a healthy chromosome not lacking the protein. So the affected X chromosome can take from the non affected X chromosome which results in less visible signs of FXS including cognitive disabilities. (Biology Class reminder - girls have two X chromosomes and boys have one X and one Y) We have not yet had Georgia tested and she shows no signs of any learning disabilities, in fact, she is a little smarty. She has a 50 - 50 chance of being a carrier of Fragile X. We'll let you know when she is scheduled for testing.

So our little man is missing a protein - and no drugs can technically replace the protein, at least with today's technology. The trick is to find other proteins which can be inhibited to offset the loss of the Fragile X protein (FMRP). Quick and dirty - In today's world they can't necessarily find a "TOTAL cure", but they might be able to offset the attributes of FXS with a drug that can balance the loss of this protein which COULD enable Jimmo to function more like an average child/adult.

O.K. the refresher in genetics is over and now on to the exciting news. In June of 2007, a Bangalore neuroscientist had identified an enzyme that causes Fragile X and successfully reversed its symptoms in mice. A specific enzyme in the brain called P21-Activated Kinase (PAK), when inhibited, reversed the debilitating symptoms of Fragile X in mice. Now as exciting as this news was, one has no idea how long it would be till they create the drug, and then human trials, FDA approval etc. Creating a drug can take 8-10 years, so the idea is to find a current drug that includes this enzyme. And there is always the small print, every human reacts differently with drugs, so even if a drug is found there is no guarantee of this enzyme's success.

A few days before Christmas, a very exciting report was sent out. Scientists actually have discovered a drug that was developed in the early 70s for anxiety - Fenoban, but never put on the market. This drug actually blocks some brain receptors as the testing did for the mice earlier this year. The FDA has approved human trials for early 2008. If you'd like to read the report - http://view.emarketing.listengage.com/?j=fe4e1573726c0c7b7d1c&m=feff1679706404&ls=fdfd11737562017975157473

So this is all very exciting news for our little Jimmo and we're looking forward to hearing more about these human trials. Taking all of this news with caution and a little bit of realism of course!
Fox News did a small clip on this a few days ago. Below is the link if you would like to listen. You might begin to hear FXS being called a form of autism. Just for clarification......Fragile X Syndrome is specifically a genetic disorder and is the most common form of inherited mental retardation. FXS is the most common known cause of autism or "autistic-like" behaviors. Unfortunately unlike FXS, as of today, there is not an "official" cause of autism. Lots of speculation, but nothing official. Roughly 1 in 3,600 people have Fragile X Syndrome, where 1 in 150 have been diagnosed with autism. With that said - 5% of autistic kids have been diagnosed with FXS. It is very common that FXS boys also are diagnosed with autism, ADHD etc. The reporters in this story are not correct in referring to Fragile X in the manner they do, just further evidence how complicated and confusing this disorder is. The point of this story is to say that unlike many horrible diseases, we actually have reasons to be quite hopeful that one day our son COULD have a treatment that will enable him to function and interact with this world in a much more complete manner.

So that probably confused matters even more, but just in case you'd like to see the story, here is the link for Fox News. http://www.foxnews.com/health/index.html

Select Health headlines of 2007 then "Autism Breakthrough?"

More pictures and family stories to come - this one was all business! Great business at that!

And you ask - what is a blog?

MERRY CHRISTMAS

And welcome to our blog.

Considering this blog is for a wide variety of friends and family, it's appropriate that we explain what a blog is and how our family plans to use it. A blog is essentially a website where entries are written by the "blogger or blogette" (2nd term is self-created - not official) in a chronological order. Very similar to an on-line family journal with pictures. This journal could be updated daily or weekly. The word blog could also be used as a verb - as the action of adding stories to the blog.

Now that we have that cleared up....why did we create a blog? Our little Jimmo was diagnosed this past April with Fragile X Syndrome. Fragile What? It's the most common cause of inherited mental impairment. We will not know until school age of the severity but the range is wide, anything from a strong learning disability to moderate mental retardation. Because Jimmo is only 2 years old, we are currently within the years of the most brain plasticity and therefore we're deep in therapy - about 20 hours a week. Needless to say - our household is busy busy busy! We thought this would be a great way to keep you updated on his progress and our family as well. And this is also a place to learn more about Fragile X and how you can help us raise money for researching a cure for Fragile X.

So check back with us daily, weekly, monthly or annually - whatever suits you best, and hopefully you'll be entertained, fulfilled and excited to come back for more!