Infantile Spasm Awareness Week

That is my precious Kyllian having a seizure.  I created a You Tube account and posted this video in hopes of helping other parents who are searching the world wide web wondering what on earth those weird movements are that their babies may be doing.

This video was filmed while on vacation.  We knew something was not right.  I sent the video to our pediatricians office and was told Kyllian was trying to roll over.  I disagreed.  Her whole attitude had changed and she lost her smile.  We took her to an Emergency Room.  We were sent home.  I then searched the internet and found similar videos.  All of the children in the videos had Infantile Spasms.  Another search of Infantile Spasms led me to UCLA.  I e-mailed the video to UCLA and we were admitted the same day.  An EEG confirmed Infantile Spasms and an MRI gave us Kyllian’s Pachygyria diagnosis.

December 1-7, 2016 is Infantile Spasms Awareness Week (ISAW). ISAW brings together advocacy organizations, parents/caregivers, industry partners, and front line providers to educate the public about infantile spasms.  The week provides a platform to increase awareness and understanding of infantile spasms through educational materials, the announcement of new and useful research, the recognition of contributions to care; and the declaration to patients and caregivers that There is help! There is hope!
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Infantile spasms (IS) is a rare seizure disorder that occurs in young children, usually under one year of age. The average age of onset is around four months, but some children may experience spasms as early as one month.  A few children may begin as late as two years.  Only about 2,500 children in the US are diagnosed each year with IS.
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It often has a very subtle appearance so it is difficult for parents to recognize that it is a serious problem.  When most people think of a seizure disorder, they may think of someone falling to the ground and having all-over body convulsions. It is very obvious when that happens that there is something wrong. A young child having infantile spasms, on the other hand, may just have little head drops that do not appear to be anything serious. However, it is a much more serious seizure disorder than the generalized convulsion. Not only is it difficult for the parent to realize that this is a seizure disorder, it is also challenging for pediatricians.  Infantile spasms are so uncommon that most pediatricians will see only one or two IS cases during all the years of practice.  Also IS often looks similar to common disorders such as a normal startle reflex, colic, or reflux.
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It is very important to recognize that a child has IS as soon as it begins because the longer the spasms last before they are treated and controlled, the poorer the child may do developmentally. Unfortunately, children who develop IS are at great risk for developmental disability and autism, but some children will do well if they are treated early.  Because the spells may be subtle, the diagnosis may be delayed for weeks or months.
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Infantile Spasms are nasty.  The medications to try to control them are worse.  I am happy to say that Kyllian is seizure free and off seizure medicine today.  We are not guaranteed that will last forever.  When the IS started she was knocked back months in development.  She was already behind in the first place due to her micro-preemie size of 1.08 pound at birth.  Today she is 27 months old and is ranked around 9 months – 14 months developmentally.

Some children are diagnosed with causes based on further testing such as MRI’s or DNA tests.  Some children never receive a diagnosis and the cause for IS is unknown.  As mentioned before, Kyllian’s pachygyria is the cause of her IS.  Both pachygyria and infantile spasms are rare.

Please join me in spreading awareness of Infantile Spasms.  Please support my fight for rare diseases and disorders.  Fight for Kyllian, Rocky and all others.

THANK YOU.

 

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Throwback Thursday: DISNEYLAND

Last Thursday I started a throwback post theme to share experiences in 2016 that did not make my blog and/or other social media outlets.  Continuing with that theme, I am sharing with you today my girls’ first time at Disneyland!

The girls turned 2 in August and we had a Mickey Mouse Clubhouse theme party.  They love that cartoon on Disney Jr. and hear about Mickey and Disneyland all the time from their TuTu Papa.  We decided to give it a go and take them.  I have never been during Halloween season so we picked October.  And it just so happened to be Nic’s bday on the date that worked best for all of us.  Lucky guy!

He kicked and screamed the whole way, but if you ask me it was all an act.  He bought a Donald Duck shirt all on his own to wear to the park.

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The day before we went to the park we drove down to Anaheim to spend the night.  We decided to go to Downtown Disney for dinner.  It was Tuesday night and I didn’t think it would be crowded.  I was wrong.  I have never seen so many people down there.  ESPN Zone (bday boy’s pick) wouldn’t even give us a waiting time on a table because so many people were in front of us.

We eventually got in to eat at the Rainforest Cafe.  I thought the girls would love the animals.  I was wrong AGAIN.  We sat right in front of the elephants and the girls were terrified.  We had to eat dinner holding them while they buried their heads.  Eventually my Parents had to take them out of the restaurant for a walk.

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That’s Irelynd trying to hide under the table from the elephants!

Nic and I were so worried.  Did we make a mistake bringing them to Disneyland so young?  Was this a sign of how our day at the park was going to go?  Not good.

The next morning I woke up with a plan.  We would try all the outside rides first then move to anything that was in a building.  Let’s start easy and work our way up so hopefully we don’t terrify them from the get go.  Sounds like a good plan, right?

We got into the park fairly easy, walked down Main St. right thru the castle to Fantasy Land.  The first line I noticed was for the Peter Pan ride and it was already really long.  I looked at the family and said we needed to do that first before the line would get worse later in the day.  They all looked at me like I was crazy.  What happened to the plan?

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Luckily we didn’t need my plan.  The girls loved it.  Irelynd rode with me and Nic and she clapped at the end.  Kyllian rode with my Parents and couldn’t take it all in at once.  Her head was moving from side to side the whole time.  That really set the mood for the day.  The girls totally surprised us.  They did great and did not get scared once!  Not even with the characters.

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High:  The girls loved Dumbo and any ride that went in a circle.  They would use sign language saying “more” when the ride was over.

Low:  Mom’s least fave ride was anything that went in a circle.  I am going to be in trouble as they age unless they turn into a weenie like me.

High:  Parade.  So much fun dancing and watching the girls’ faces.

Low:  Not making it to the Disney Jr. stage show.  I was counting on this from day one of trip planning.  Oh well.  Leaves something to go back for, right?

High:  The girls having the best attitudes all day – even without a nap.  One person working a ride gave our whole family a free Fast Pass to ANY RIDE we wanted because of Kyllian’s smile.  He said he was having a crummy day and her smile turned it around.  How awesome is that?

Low:  Our hotel was a good drive down the street and the shuttle ran every 45 minutes.  Due to this we opted to stay at the park all day.  The girls were ready for bedtime at the end of the day, but who can blame them?  The adults were too.  If we go again with the girls this young I think we will stay at a hotel within walking distance and go back for a mid-day nap.

Otherwise, no complaints about our trip.  I can’t wait to do it again and again and again!  Many thanks to my Parents for having a hotel slumber party with Irelynd and all of their help during the trip.  Disneyland with toddler twins is a breeze when you bring your village along.

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Giving Tuesday – Running 4 Rare

A few weeks ago I announced I would be running the LA Marathon in March with an organization called Running 4 Rare.  You can read about that announcement HERE and all about what Running 4 Rare is.

Today I want to introduce you to a very special woman named Alexis.  Alexis was partnered up with me from the organization for the marathon.  We will be advocating together during the next 16 months (and hopefully many more after).  Our mission is to bring awareness to rare diseases/disorders and to raise funds that will provide assistance to those affected as well as professionally to one day find a cure for all.

Here is her story:

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I have been married for 3 years and have 3 amazing boys.  Anthony 9 years old, Christian 9 months old, and Rocky (in spirit) who turned 2 on Thanksgiving Day 2016!
It was a very snowy November 2014 out here Buffalo.  The news called it Snowvember as some cities around us actually got 7 FEET of SNOW! Luckily, in North Buffalo, where we live, we only got about 6 inches of snow.  My due date was a week later and the baby waited till then to be born.
On November 24, 2014 I had a beautiful baby boy named Rocky Robert Maulucci IV.  He was happy and healthy!  I had the perfect pregnancy.  Healthy, easy and joyful as any of us parents can imagine.
Rocky was born with a cataract in his left eye and we were hurt to hear that at 2 days old, he wouldn’t be able to see out of his left eye and was partially blind.  Due to many other standard tests, doctors believed he could have had a virus called CMV.  He was put on a 10 day course of antibiotics, had other countless tests done in the heartbreaking NICU, all to find nothing.  We were thankful for that and 10 days later we finally took our precious baby boy home.
Rocky also had a heart condition called coronary osteo atresia which was lack of blood flow to the left side of his heart.  As we learned, the left side of a human’s heart pumps blood flow to your body and our precious baby didn’t have that.  It was an unheard of condition among many cardiologists we saw.  At 8 weeks old he survived a bypass surgery (which is usually done in adults).  He was a hero.
We took Rocky  home a few months later after he recovered from the hospital. We made many wonderful family filled memories and took countless pictures. Unfortunately, it was short  lived because Rocky had a difficult time gaining weight. At 7 months old he was back in the hospital.  From different feeding patterns, being on oxygen, not meeting any developmental milestones, now having mitral valve regurgitation, being on many different heart medications.  Something’s gotta give.
Doctors told us at Strong Hospital that another heart surgery was too risky, so we got  a second opinion from Boston Childrens Hospital.  Before we went there, Rocky had genetic test done and it shown he had a very  rare metabolic disorder called i-cell disease.  How could that be, I asked?  I had a healthy pregnancy.  No complications.  Me and my husband are healthy and so is our family.
It turns out that i-cell disease is an inherited disease and with tests confirming, me and my husband are both carriers too.  It amazes me how we all can be carriers of diseases and not know it because you don’t have symptoms and tests can only be done to see if you’re a carrier if there’s a health concern.  At that time, I was 6 months pregnant with my 3rd son.  Thank God, he is perfectly healthy and it is confirmed that he doesn’t have i-cell disease.
I-cell  disease is so very rare and is almost unheard of.  It is a lysosomal storage disorder that effects normal cell turnover at which carbohydrates and fats build up inside all the cells in the body.  Life expectancy is 5-7 years, but we were told that any surgeries a child has had could make life expectancy shorter as recovery can bring complications. Tragically, there is no cure today.
Rocky’s heroic and brave life tragically ended on February 28,2016.  He was only 15 months old.  It is my life’s mission to find a cure for i-cell disease, for my son and for others fighting from it.  My son’s life gave me purpose in infinite ways and his disease made that purpose a necessity.
Through a t-shirt fundraiser to promote awareness for i-cell disease and many google searches on how to further promote awareness, I found Run for Rare and couldn’t be more excited to join you in this needed, hopeful, and desperate Fight for the Cure!
God Bless!
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* * * * * * * * * * * * *
Rocky was a beautiful baby boy.  As a Mother to a special needs child it is hard to understand at times why our babies were born with incurable disorders.  It’s hard not knowing how to help.  It’s hard not knowing what the future holds because such little research has been done.
Friends, today is Giving Tuesday.  If you are looking for a cause to donate to, I ask that you look into Running 4 Rare and support me in the LA Marathon.  My Crowd Rise fundraising page is linked below.
I am running for Rocky.
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Throwback Thursday: DODGERS

Happy Thanksgiving!  I have so much to be thankful for.  I had some good times this year that didn’t make my blog that I would like to share with you all before 2017 sneaks up on us.  My first 2016 throwback will be about my two incredible Dodger games this year.

Nic and I have been Dodger fans forever.  We have gone to several games each season starting way back in our dating days.  Those games slowed down once the twins came.  We went to one game last season. I figured it would be the same this season so we made sure to make it a good one.  And that it was.  We chose a game when the Red Sox came to town.  It was Vin Scully’s last season as well as Big Papi’s.

Now here is where it gets cool.  Did you know that there are perks to using your MasterCard?  Y’all remember those Priceless TV commercials years back?  Well, MasterCard is still hot and heavy on creating those Priceless moments.

If you use your MasterCard inside the park you have an opportunity to be upgraded to the MasterCard Best Seats In The House.  Guess who got to sit there?

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These are the seats us common folk look at from the upper levels and drool over.  These are the seats that offer in seat service and all you can eat food for FREE.  These are the seats that have tables so you don’t have to eat off your lap or dirty your purse on the ground.

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And these are the seats that get you up close and personal to the players and celebs.  Nic got Orel Hershiser’s autograph before he went on air broadcasting the game.

It was a hot summer day game and we sweated like pigs BUT had a great time.  We even made the jumbo tron when the Dodgers advertised MasterCard.  Woot Woot.

Pretty awesome experience, right?  Well it didn’t end there.  Flash forward a few months to post season.  The Dodgers were oh so very close to the World Series and playing the Chicago Cubs.

The day of game 3 Nic and I were at Kyllian’s physical therapy session when I received a call from a LA phone number.  I thought it was UCLA calling so I answered.  It was a representative from Master Card offering us tickets to game 4.  FREE post season play offs to watch the Dodgers vs. the Cubs.  She told me Master Card wanted to thank us for being loyal customers and offer us another once in a lifetime Priceless experience.  And this time we would get to stand on the field during batting practice.  I almost passed out.

So 24 hours later.  There we were.  On the field.  Thankful for using our MasterCard so much on Pampers and Enfamil.

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We were given strict rules of not asking for autographs.  No standing on the grass.  And we only had 15 minutes to ohh and awe before we had to take our seats in the nosebleeds. MasterCard said MLB gave them leftover seat tickets and we were at the top of the top of the park.  We didn’t care.  We got to stand on the field.

We stood there for way over 15 minutes.  I did get autographs.  And MasterCard ended up upgrading us to better seats than the nosebleeds.  WINNING.

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I got an autograph from Dodger’s manager Dave Roberts – who is very nice and has a great smile!  He made great eye contact and really seemed like he would stay to chat if he didn’t have an important game to get to.  And I got an autograph from Andre Either – who has been my crush for many many many years.  He was nice too and just as handsome as ever.  I like to think it was all my charm instead of the fact that they get paid millions to be nice to the VIP’s on the field.  ha

 

Once our time on the field was done we were given a mini tour of Dodger memorabilia.  Cy Young awards.  Golden Glove trophies.  Original contracts for players (Sandy Kofax pictured below).  And the World Series trophies.

 

Although the Dodgers did not win it’s pretty cool to say we got to watch them play the World Series champion.  The 2016 season was a good one for the Dodgers and for me.  Thank you MasterCard for a Priceless year.

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Mama Needs A Boost

I’ve never been much of a make-up girl.  Mostly because I have no idea what I am doing and fear looking like a clown.  My staples are mascara and lip gloss.  A little pop on the eyes and lips can make a world of difference.  Just ask the Kardashian ladies.

 

Not bashing here.  Just jealous of my lack of money for a little plumping and tucking by professionals.  I have done what I can do to get by meaning drug store false lashes and cheap semi-permanent lash extensions.  MAJOR MISTAKE.

After losing all of my normal lashes due to a bad lash extension job, I threw in the towel a long time ago on getting luxurious lashes.  Until now.

I have been introduced to Rodan + Fields.  Rodan + Fields is a skincare line named after and created by the founders of Proactive.  They promote life changing skin care via a commitment to create positive change in people’s skin, in their lives, and ultimately, in the lives of others.

I am excited to share with you my journey using their Lash Boost.  Lash Boost is a conditioning serum clinically shown to visibly enhance eyelash volume and length in just 4 weeks.  You simply apply it like eyeliner on a clean and dry face before bed.  Following are pictures of an incredible success story with this product.

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Exciting, right?  Longer looking.  Darker looking.  Fuller looking lashes.  This is going to be a game changer for so many.  No more messy glue or embarrassing moments when your lashes fall off and get stuck on your boyfriends arm.  (true story – and he still asked me to marry him).

I started using Lash Boost last night and cannot wait to share with you my 4 week progress results.  As proof, here is my beginning picture.  Raw and unfiltered.  No mascara.

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Want to take the journey with me?  Contact Lisa Brooks at this LINK to take advantage of the holiday special.  There is a 60 day empty bottle money back guarantee, so what do you have to lose?

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Or maybe you are blessed with lashes already but needing help with adult acne, dark spots, aging?  Take this quiz HERE to see what other products Rodan + Fields has to offer that would suit your needs best.

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** Disclaimer:  I have not been paid for this post.  The comments are my personal opinions based on personal experience.

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Armistice Day WOD

This post is going to give a workout idea and history lesson all in one.

Let me start off by asking why our Vets only get one special day a year?  I love seeing the parades and tributes.  And I think it’s awesome that so many restaurants and stores offer special deals on Veterans Day, but I think they should honor those deals every day of the year.  Can I get an AMEN?!

Veterans Day has been observed since 1954 by the U.S. and its origins date back to Armistice Day 1918, which marked the cessation of hostilities on the Western Front in WWI. Veterans Day preserves the historical significance of the 11/11/1918, but also focuses attention on the important purpose of Veterans Day: A celebration to honor America’s veterans for their patriotism, love of country, and willingness to serve and sacrifice for the common good.

WOD for Warriors is held yearly on the 11th month, 11th day and 11th hour to celebrate the service of all U.S. military Veterans in a meaningful way within their own communities.

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WOD for Warriors is a functional fitness tribute workout held once a year on Veterans Day at gyms all throughout the country. WOD for Warriors supports Team Red, White and Blue, whose mission is to enrich the lives of America’s veterans by connecting them to their communities through physical and social activity.

This WOD is designed to celebrate the service of all U.S. military veterans in a meaningful way by providing an opportunity for veterans and non-veterans to meet and sweat with members of their community through functional fitness on a national level with the goal of fundraising for Team RWB’s Veteran enriching programs. 

The significance of the repetitions in this workout can be seen in the layout where the 11 min AMRAP, 11 power cleans and 11 burpees over the bar represent the 11th month, 11th day and 11th hour while the 19 deadlifts and 18 pull ups represent the year 1918, Armistice Day.

The WOD – Armistice

11 minute AMRAP (As Many Repetitions As Possible)

11- Power Cleans

11- Burpees Over the Bar

19- Deadlifts

18- Pull-Ups

Modified Workout (Without Barbell)

11 min AMRAP

11- Push Ups

11- Burpees

19- Sit-ups

18- Air Squats

I was not able to workout on Friday thanks to a sick kid, so I completed both sets of the WOD yesterday.  I was able to complete 3 rounds of each in 11 minutes.  It was a great 22 minute workout in honor of a great cause.

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I don’t sparkle.  I sweat.  If you are looking for a quick workout to kick your butt, this one will do it.

I gotta hand it to the Crossfit community for all their WOD’s dedicated to the vets and military.  Click HERE for more information on WOD for Warriors and Team Red, White and Blue.

LA MARATHON OR BUST

My one and only marathon was 5 years ago.  I crossed it off the bucket list and never thought I would revisit a full 26.2 miles again.  Until now.

Over the past few days I have been tossing this decision back and forth.  Can I really run that far again?  How will I find the time?  Do I really want to push myself to those limits?  Then I realized, this is not about me.  This is for my daughter Kyllian.  This is for my Running for Rare partner with a child who also has a rare disease.  This is for all the people with rare diseases all over the world.  I will not run for myself.  I will run for those who can’t.

I am happy to announce that I am running the LA Marathon in March of 2017 with The Running For Rare Marathon Team.

 

For the tenth consecutive year, patients and advocates will run as members of the Running for Rare Marathon Team in support of the National Organization for Rare Disorders (NORD).  NORD is dedicated to supporting individuals and families impacted by rare disease and the organizations that serve them through programs of education, advocacy, research and financial assistance services.  Rare diseases impact the lives of 30 million Americans – two-thirds of whom are children.  On average, it can take a patient 5-7 years to receive an accurate diagnosis, at which time 95% will be told there is no FDA approved treatment or ongoing research to learn more about their disease.  The funds raised from the Running for Rare Team will support NORD’s Undiagnosed Diseases Program; helping individuals to receive a diagnosis from the National Institutes of Health (NIH). Donations in support of this campaign will be tax-deductible to the extent permitted by law.  For nine consecutive years, NORD has received the top (4-Star) rating from Charity Navigator, a leading independent evaluator of charities. The individuals and families helped by NORD often have nowhere else to turn for assistance.  Your support of this campaign is very important to them.

You can follow Running for Rare on Facebook HERE.

You can follow NORD on Facebook HERE.

Again, the marathon is not until March. In the meantime I will be sharing, educating, and advocating for rare diseases.  Sit tight as I take you on this journey with me.

Thank you for your support.