Hidden Pain and True Intentions

I began this blog many years ago. In fact, almost 13 years ago this week. A lot has changed since this blog began. I thought I would do something in this world to do good for others, despite the challenges I faced all my life growing up. I have, and I did. It wasn't without the help from those along the way and those who have stuck by me the entire time.

Many of you know the life of abuse, trying to meet the standards of what others think you should be. The ironic part is to understand that the people who say they love you and the ones who are to care for your cause the most are the ones that hurt you the worst. I am not sure what I am supposed to be learning, even at the age of 51 going on 52.

I have experienced the unbelievable in my life. From greed, envy, lies, deception, being used and disposed of like you are a wrapper that holds a piece of candy and a hamburger you would eat. Discarding people based on the pure bases of money and greed alone. It's not truly about helping people; it's about benefiting one's self. Those people will burn in an eternal fire they have yet to face. Deceiving others who are so desperate to make their own happiness. Trusting those who have lots of money and no strategy preying off them just to make a buck.

I have learned today what real evil in the face of good does. I have learned how people could crucify a man that had no blame only because He wanted to change the world and give them a life worth living. I indeed saw BLACK, GREED, SELF-SERVING BEHAVIOR today in its utmost RAW FORM.

It is an attack by the darkness of this world allowed by those who don't know the true God in this world and do not know His power, and they can't comprehend it. It's a BLACK that ruins relationships, marriages, careers, livelihoods. It's a blackness I saw hover over me at the age of 13 in my bed, paralyzed huddled undercover, watching as a black, evil red-eyed demon came over me, blinding me, terrorize me from the inside out. I had just made a profession of faith in Jesus that year and was battling being molested by a faceless beast I still can't remember. Maybe that was what I saw in my room that night? Life's reality was distorted, and I was sheltered, yet was living a life of hidden hell I was never to speak of. Over time I began to express my pain and anger after I was out on my own. Counseling taught me what normal should be, yet I gravitated to" my normal" dysfunctional relationships, never saying anything to anyone because of shame and failure I would be so "stupid". I was too beautiful and smart to go through such things. My experiences led me to be the fighter I am today. I no longer take flight and run; I stay and fight because I will no longer be abused or taken advantage of. However, I still wear my heart on my sleeve, making myself vulnerable to those who may or may not be who they say they are. I don't judge unless you give me a reason to believe. But when you are found guilty in my eyes, you will rue the day you ever crossed me.

Today, I saw and felt the betrayal of those who I have helped throughout their time with me turn on me, AGAIN, and disregarded the sacrifice I made to help them be successful. Would those who have discarded us benefiting and excluding at the celebration and glory of achievements, where would they be without the people who helped create their path to success?

I might not be everyone's cup a tea. BUT BOY...sometimes you just don't know when ya gotta good thing. I believe that bad things happen to good people sometimes because they are doing something right. The hardest thing is loving them anyway and showing people that sometimes you are much more than you than others are willing to recognize.

Job lost everything, but he stayed faithful, and God blessed him with much. Kind David sinned and lost his child, suffered the consequences of his actions, but God still used him to do great things. Solomon fell for a woman and told his secret, suffered consequences, yet left a great legacy. Jacob did EVERYTHING right, yet he was sold by the people who said they loved him the most and God blessed him. Abraham was told to sacrifice his own son, and because his heart was right, God spared his son and blessed him with great things. Paul was named Saul, an evil tax collector who followed Christ and stood for what was right and was sacrificed upside down after being thrown in prison for NOTHING he did wrong, only for believing in what was RIGHT and Godly.

All these people mentioned in the most historical book on the planet, the Bible left a legacy that people over 2000 years later remember and live by. Believe or don't believe. I choose to believe because I honestly really have NOTHING to lose. I am NOT A SAINT, I AM NOT PERFECT, I GET MAD, I DRINK, I CUSS, and one thing I do know... IS I AM FORGIVEN AND SAVED BY GRACE! People in this world are NOT MY JUDGE! GOD is MY JUDGE! He will judge my Heart; HE CARES NOTHING about politics, other people's expectations of you, how much money you have, or the GOOD DEADS you DO. He cares about YOUR HEART! IF I DIE TODAY, I WANT PEOPLE TO KNOW MY HEART, NOT HOW MUCH MONEY I HAVE, CARS I DRIVE, CLOTHES I WEAR! BUT IT IS WHAT I DID FOR PEOPLE! You judge me all you want... It doesn't MATTER WHAT YOU THINK! I ONLY CARE ABOUT ONE THING. What I did in this life to show that GOD truly works through people that are NOT PERFECT! REMEMBER THAT! NO ONE IS PERFECT!

The Lighter Side

Funny, as I have just gone through another nervous breakdown and took about 2 days to only gain partial sanity back.  I was reflecting today about the things I have learned throughout this journey. I will share with you the things both good, bad and royal pet peeves that I have experienced throughout this journey.  First, I want to start by saying; the worst phrase any other person that has not gone through this before is, "That God doesn't give you what you can't handle"!  I CALL BS ALL OVER THAT!  That is the most absurd and ridiculous statement anyone could say to a parent of a child with special needs.

I mean seriously, you think He gave us this life to make us "handle it?"  Dear God People! Get your head out of your ass!  Any person that goes through a hard time has to either cope & deal with it or just go off into the deep end.  Seriously!
I mean really?  What am I gonna do?  Just be "happy and strap my ass in for the ride?" Come on?  No, we live just like anyone else.  We may have more breakdowns than most, but that doesn't mean we are stronger than the next guy out there.  As you can see, that is my biggest pet peeve.

I have learned more about life and people in it and their real motives behind why they do what they do.  It's quite sad in fact that you have people who are aiming for the same goal, yet sabotage the efforts you put forth because of their own self-serving attitudes.   Yes, those people will be in my book. Don't worry. I keep all the written documentation to prove otherwise. It's quite surprising what people actually put in a written word that they think will never see the light of day.  To them, I say; thanks for the new material!

But on to the lighter side.  I have learned many things in these last 10 years that I never once anticipated.

#1 Nervous breakdowns are regular occurrences. No way of getting around that, they just happen. I seriously should buy stock in Kleenex and wine.

#2 A therapist is an absolute necessity, no way getting around it because they understand more than your friends and/or spouse, plus they are sworn to confidentiality and can't go talk shit behind your back like some of the other people you realized really weren't your friends, to begin with.  Ummm?  Maybe I should have everyone sign an NDA and sign a "real friend" contract before disclosing any useful information that they could take and write a book for themselves. However,  I do have a few close friends who I trust with my life, but then I got dirt on them too.  ;)

#3 Marriage entirely is non-existent, and sex. Yes, we live together, but the lack of time building a relationship is put on the back burner due to the fact you are either getting over the nervous breakdown or just dealing with all the other needs in the family. Most of the time we walk by each other and say "hey, you get the mail today?"

#4 I learned there are more Cabernet and Blended Wines in the world I have not yet tried. HEB here in Texas has a selection that I could honestly spend hours in.. So, is it wrong that the grocery store manager knows you by your first name in a city of 8 million people? Ok. I am jesting people..kinda.

#5 I never ever need to go to school again.  I know more about the human brain than most Ph.D.'s.  Ok, well maybe not that much, but enough to get people to question if I am.  I just expect an honorary doctorate from somewhere before I die.  It's a bucket list item.  I learned you don't need letters behind your name to prove your worth.

#6 I need to get paid much more than I do for the things I do.  Yes, I said it.  Being a teacher for 23 years, it made me realize that we are worth more than they give.  That this is true for those, who lead nonprofits as well.  The old adage, you get what you pay for.  If you have all the volunteers, then they won't do a job like its a "real job." Well, not me, but others.  This is my calling. I did for nothing for over 3 years. Thing is others expect to work when they want to or not at all. You pay people, you will have better quality work and program outcomes. Part of it is understanding and having the right people backing you to get the mission done. Funny thing about that too is people just can up and walk away from the mission and their commitment, that's ok.  But for me to walk away, absolutely no way!!  Surprisingly to think a couple wanted me gone through this whole process. Funny, neither of those people did shit to help the cause either. Those backstories will go in the book as well. Wonder who would have stepped up and taken on the projects and programs and done the exact job I am doing now? Then never measure up to their own responsibilities. I have NO respect for you! That's when I learned people can kiss my ass!  By the way, next time you see me come to say "Hi"! Some may even say it's unprofessional to bring up. I call it being transparent.

#7 Your future is dismal if you have no support.  In my case, the family has just gone on with their own lives rarely calling to check in or even to come by to say hi.  Very disappointing!  So I learned to stop expecting things out of people because you won't be disappointed when they don't do what you want.  Consider it a gift when they do come around.  I learned I need to depend on myself. I continue to chug through, and on bad days you see it through every minute hoping that the next day will be better.

#8 Social media is a farce! No matter what.  Anything you post is going to offend someone.  Me to You.. Get over it!  I usually tell them to suck my big toe.  I will not change who I am for you or anyone else.  It also has become a necessary evil.  Great free advertising and a tool to drive depression that shows everyone in the world your life is excellent.  PLEASE!  Your life sucks behind the scenes just like everybody else..LOL! No one walks around with no problems.  EVERYBODY HAS PROBLEMS, especially us families raising kids with special needs. Keep scrolling if you don't like what you see. If you judge me based on what I post, then you aren't my real friend, and we don't need to be connected.

#9 There is NEVER enough money.  No matter how hard you work, there is always something.  But, there is still enough left for wine!

#10 Who said leaders had to act differently than the average joe?  We are people, we shop, we raise families, we have marriage problems, get divorced, separated, have financial issues. You name it we experience it.  Leaders aren't perfect.  But I learned that the world expects you to be "different" when you are facing the public. My dilemma,  I don't really care what the public thinks of me.  As long as I am doing the job I was hired to do and am performing at a rate that is not backward, then people can't say much.  Pick me apart... I bet I could find many skeletons in closets of those who are so ready to judge that would make your hair curl and skin crawl.  Being a leader doesn't mean you never fall or fail, it means getting back up to complete the tasks at hand the very best way you know how.

In closing, things always come home to roost.  Never underestimate a person that has a calling and doing their damndest to help those in need.  When you can match up efforts with the person whos kicking ass, then and only then do you have the right to criticize anything. Its then on you to do your best to carry the same load.  These are the truths I live.  If people have an issue with me being real, then that's your problem to bear.  Not mine. 

I Just Want to Run Away Sometimes

I haven't blogged in awhile and thought maybe I should go back to putting my feelings and emotions on paper. (or digital paper) It helps me process what I am feeling. Some days you are just numb to everything. I was told recently in a counseling session.. yes, counseling.. (I think everyone has been there...if not it might do you some good) 😜 I was told I am grieving for the child that I didn't have. I'll be honest, I thought she was all wrong, yet in some ways she was right. I am grieving a lot of things. I had to process a lot and had plenty time to do it these past weeks. I'm still not ready to accept somethings and I think that's OK because it's going to take me a while to figure it out.

It's accepting that your life is not the normal one everyone else has and is even harder. Today has been a hard day for me.. Wanting to run away and never come back. That's really bad ugh? Anxiety and worry tend to take over and sometimes it's hard just to deal with. Most people tell you don't compare your life with the cookie cutter American Family you see on TV. Right? That's what you are conditioned to believe your whole life. The perfect life right? House, car, dog (I hate cats; sorry cat lovers) kids and the whole shebang!

You see, everyone else's life on social media show the house (that's not child proofed with all the fortress locks, chains and alarms) the two kids, a dog, a pool, vacations, nice cars, blah, blah, blah! Kinda magnifies the problem and confirms the diagnosis of Facebook Blues. Our life is not anything like that. The medications that are given constantly, watching for the seizures to return and waiting for that next nuclear meltdown. Planning something spontaneous is never even considered! All that is gone. I miss that! I have to be brutally honest here and say I wish I could have all that back, but the guilt consumes me to almost a depression and I get angry. Then you pop right back up to then be reminded of how thankful you should be for what you have. Which I am, but then I am not. Yes, others have it much worse than I. I get that. But the feelings are still the same.

These feelings have an affect on every single aspect of your life. I now see why most all marriages of special needs end in divorce. In fact, 70% of all marriages with special needs end in divorce. Well, I guess I'm batting a 1000 because this is my second marriage, add in three kids from the former marriage, plus a child with special needs is a recipe for just that. I can see how relationships get lost in the frantic of everyday. A divorce is the only way to get a break from it all. I can honestly say, I will never marry again. No offense to my current husband, but that's the honest truth. Now, I am not saying I am divorcing, so don't go and think that. I am just merely sharing facts about relationships and raising a child with special needs.

I bury myself in my work to make myself feel better. It does. I don't want to stop and don't think I ever will. I was told I am addicted to my job. No, I just love what I do to help other people and that's the long and short of it. Sometimes I just feel like I am running on empty and search to be filled. Crazy? Right? My work seems to give me relief somehow, yet I am still sad as I feel like I am missing something.

Of course, I have people tell me all the time God put you here. Yes, not arguing that point, I believe He called me to this. I know some reading this, (especially the ones who know me from way back when) are cringing. Why you say? Because my life experiences molded me to be the person I am today. Which I am much more "relaxed" than the "rigid" expectations I was raised with. See, I was brought up in a strict Southern Baptist home. My Biblical core values haven't changed, but some of my thought processes have on "fundamentals of religion". But, you find yourself asking all these same questions, looking for answers that may never come. The questions of all questions; like "Why me?" and "Why do people cross your path and what was their purpose for being in your life?"

Funny how the self talk that most people have with themselves are what most of us ask daily without even thinking about it. So, I got to thinking and found this article on grieving a child with special needs. It fits me. I guess my counselor was right. I know tomorrow will be a better day and I will probably still ask the same questions tomorrow. I've had to learn to step back and sometimes take it at a minute at a time just to survive.

This article hit home Grieving when you have a child with special needs

FIRST EVER..COMBINED INFORMATION PAPER ON SYNGAP1

I never dreamed that today would come. For the first time in my life I had a dream and it came into reality.  I never thought I had it in me to see anything this "BIG" through because the fear of failure.  Today, I proved to myself that if I just keep going and continue to try and never give up, that good things will start to happen.  Just yesterday I was saying how I wanted to quit and run away. But I chose to stay and continue on through all the feelings of frustration.

My Baby Boy before he started walking...

I thought about my son when he was learning to walk. Pushing a walker and being forced to take every step, because if he didn't he would have never learned to walk.  I thought of how hard that must have been.  How hard it was for him to put one foot in front of the other. Having no motor control and working hand over hand with him to "feel" his legs move.  He never gave up and in the end and he walked!  That meant I can never give up.  I have to keep going no matter how hard things get. No matter how many tears I cry, no matter how mad I get, I just can't stop.  It's my family, it's my children and my SYNGAP family that keep me going.

To think that an email I sent 3 years ago to a researcher I thought would never be heard, was heard.  It started a domino effect.  To think if I never sent that email where would we be now?  I know for sure that I would never be where I am now if I let fear prevent me from reaching out to find help and to find someone that would listen. 

Today was a great day for SYNGAP awareness.  Dr. Jacques Michaud and Dr. Gavin Rumbaugh combined efforts and created a collective summary on SYNGAP1 mutations.  NORD (National Organization for Rare Disease) has published our paper in their database.  This is the first time SYNGAP1 has been published as a collective summary.  This is just the beginning for us as a foundation.  This puts SYNGAP in the hands of people trying to find answers and hope. 

I have to be honest, when I saw it pop on the website, I cried like a baby.  I felt an overwhelming weight off my shoulders.  It was a feeling of relief knowing that when people go searching they have a chance at finding an answer to what they are looking for.  It's a hope for them to know that they're people out there trying to help.  That makes me feel good to know that someone will find help.  I have learned that if "it" wasn't there for you, then be "it" for someone else.  I hope that I can do that for those who need "it".  Since this is just the beginning, I am so excited to see what more we can do together.  The future is bright and I believe we can be the light for others who are searching to get out of the dark. 

Check out our paper and share!  http://rarediseases.org/rare-diseases/syngap1-related-nsid/

And We're Off

It has been a crazy two months.  The foundation has taken off and we are working on development, awareness and a patient registry program.  We have also started developing our website www.bridgesyngap.org.  The response has been wonderful.  On top of the foundations progress, Beckett has been making some of his own. 

We have since raised Beckett's seizure medication (Lamictal) and when he is not sick, progress is quite faster than expected.  His words are becoming more and his articulation has been where you can make out what his needs are.  It helps that he points to what he wants.  We are still having our moments of the frustrating melt downs and the constant running around like a motor won't turn off.  But it seems to cycle every couple of weeks and when we up his dose of medicine he levels out and acts himself.  Since Beckett was a baby he has been sick about every 3 - 5 weeks and on antibiotics and it seems like all the time. We have had his adenoids and tonsils removed, but his frequency of strep infections has been countless.  We are adding another specialist to our list in April.  We are taking him to see an immunologist to see why he is sick all the time and why he is so prone to strep infections.  My concern is that the frequency of antibiotics he takes are beginning to show their ineffectiveness of fighting strep and looks to be antibiotic resistant. 

We wanted to share with you a video of Beckett and his twin sister riding their first carnival ride together for the very first time.  I was so excited that they were able to share a moment together, with no adaptations, no restrictions, no worry and the excitement of being a 6 year old kid.  I was so proud of both of them hanging on for dear life as they spun around.  Well, He let go a couple of times which scared the poo out of me, but it ended up being a great day for everyone:)

Announcing!!! Bridge the Gap - SYNGAP Education and Research Foundation

I am excited to announce our new organization called Bridge the Gap - SYNGAP Education and Research Foundation.  Our mission is to serve, educate and fund research for families coping with the effects of SYNGAP mutations.  We are the first foundation to specifically raise funds for research and awareness for SYNGAP.  In the coming months we will be focusing on development and fundraising.  Co-founder Olga Bothe and myself will soon announce our Board Members and our Medical Advisory Board and the launching of our new logo and website.  It will be full of information, patient stories  and current goals of the foundation along with valuable resources for families.  Please check out our Facebook page and Twitter Pages for current information.

Facebook Information Page:  https://www.facebook.com/Syngap1?ref=hl

Facebook Page: https://www.facebook.com/bridgesyngap?ref=aymt_homepage_panel

Twitter Page: https://twitter.com/bsyngap

 

We have launched our first fundraiser for the Bridge the Gap and would love to see your pictures on our new donor wall we are building. 

 

Check out our wall!http://www.memsaic.com/v2/01D4C9B2A6E3D3/wall

We also just joined #giveRARE to raise money for my #raredisease. You can sign-up your nonprofit at www.giverare.org. Let's do this!

 

After Beckett's Functional MRI - Texas Children's Hospital

This is all for this little boy and his friends with SYNGAP.  These precious people can suffer from many types of seizures, intellectual disability, the ability to speak, sensory disorders and many more symptoms this rare neurological disorder.  We want to help theses individuals live better lives and with your help they can.  Research is going on now to find better therapies, but funding is hard to find.  Please help us help them. 

 

Our goal one day is to be able to help families off set the cost of the continuous burden of medical expenses and provide resources to relieve the stress of raising a child or being a caregiver of a specials needs individual with SYNGAP.

 

Please Share and Tell people you know about us.  There are more individuals out there yet to be identified.  We appreciate any support you can give us. 

 

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Update on Mr. Bean: 

 

In the hustle and bustle of things we have been keeping up with our little Bean.  He is doing quit well on his new medicine and his meltdowns have seemed to subside some.  His language is still developing and is trying to say more words.  We received part of his MRI update before the Christmas Break.  He has had only a very small measureable amount of change in the myelin increase in his brain.  There are still spots of undeveloped myelin in his brain, which is expected usually in children with intellectual disability. We are still waiting on the functional MRI results to tell us exactly what parts of the brain are developing normally or abnormally.  We are also participating in a research project through VIP connect.  They are studying several gene mutations linked to both developmental delay and autism.  All four of had our blood drawn and they will bank the blood and as science catches up they will test it for any identifiable markers.  His sister wasn't to thrilled with the needle stick, but she took it like a trooper.  Beckett seems to be a pro now and was ready and rearing to go. 

Beckett is a pro

 https://www.simonsvipconnect.org/

Pyper's dad is a goofball...she's a trooper

 

 

 

 

 

 

 

 

 

It's a Marathon, Pace Yourself

I am sitting here next to my little Bean thinking that this is a race that never will end. I realize that he has so much to offer and he has taught me so much about life.  But on the other hand, I feel so guilty that he has these problems. He never ask for them, let alone deserved any of it. I get frustrated having to deal with the changes that happen everyday. It is like living a continuous state of post traumatic distress.  He is so cute and adorable when he is just happy and having fun, but when you tell him "no" all hell breaks loose and he turns into a different child.  The art of distraction is the key to curbing these horrendous meltdowns. My problem is trying to find different things to take his mind off what he is upset about.  The emotional and physical toll is taxing on your body, mind and soul. I have to reach deep into myself and find the strength to deal with this life I have been given. The good Lord above is my only strength.  I don't know how anyone does life with out relying on faith. That is my only hope.  Some days are wonderful and some days are absolutely pure hell.  His behavior over the last couple of  months has been erratic and we have started a new seizure medicine called Lamotrigine. It is suppose to help control the seizures and help curb the behavior. We have to watch for a rash that can be lethal and it will take a couple months to get him titrated up on the higher dose to see a full result of its effectiveness.  I have been told by several people that when children like him are growing, their brains are changing and that is when the behaviors are much more prevalent. So living day to day is the key.  Honestly, the older I get, the more fear I have that I will not be strong enough or have the energy to deal with his behavior.  I am already so tired and have no idea what it will be like in 10 years.  I will be 55 then and can't even imagine those days.  I already have very little help from my family or my husbands family.  To be honest, I am wondering when my husband and I will ever be able to spend a night away from home just to be together for any type special occasion? We haven't been over night anywhere in 5 years.  I think the last time we went anywhere overnight alone was when the twins were about 10 months old.  Of course that was before we knew exactly what he had and was not to hard to cope with at the time.  What will probably end up happening is I will have to pay someone tons of money to do it and then worry the entire time that my Bean will not be cared for like he should.  So I just sit and imagine myself going to Hawaii sitting on a beach with my husband and hoping when I get to Heaven that it is much better than Hawaii could ever be.  I do have hope that things will get better as soon as we can figure out the proper medicine for him.  It just seems to take forever.  I haven't given up hope on miracles either. I believe in miracles.  I believe that there is a purpose of why all of this is happening.  I just need a break sometimes.

Beckett and his twin Pyper at the Houston Zoo Lights 2014

My husband told me something the other day that I have thought about ever since.  I was complaining to him my discontent and frustration about how everything just seems to get harder and never seems to end.  He told me "Monica, this is a marathon, pace yourself!"  I was kind of taken back, but I stopped and thought about it. He was right. I need to just keep on keeping on, but deal with things that come up and not worry about the things that are out of my control.  He reminded that worry is just borrowing trouble.  Things will be the way they are going to be.  I will keep running, pacing myself.  I am determined to finish this race.  I might not win any trophies, but I will know I never gave up and if I have to drag myself across the finish line, I will.

1 Corinthians 9:24 Do you not know that those who run in a race all run, but only one receives the prize? Run in such a way that you may win.

Just Me

Have you ever just wondered how you were going to live through the day, hour, minute or even second?  I am sure that we at some point in time have all been there. When raising a child with special needs there is never a true time of rest and relaxation. Many people don't know that because they haven't experienced it. I get frustrated sometimes that people have known you for years still just don't get it. On the other hand I am still very thankful for the ones that do. The hardest part for me is lowering my expectations of what people should be doing to help.  Sometimes I don't have family that is available or they choose not to help as much as I expect them too.  I am totally exhausted and need a break. 
My mind continuously races and I think about the future and if it will ever get better.  I know that I have not given up on trying to make things better, but the fact that I am mentally and emotionally drained and it doesn't seem to go away.  I am probably going to be cynical when I say this..but I really get sick of people that tell me "everything happens for a reason" or "God has a plan, you just don't know it yet".  Ya know?  I haven't lost my faith or believe in what God has planned for me, I am just so very tired. That just makes me want to slap the next person who tells me I am going through what I am going through because I did something wrong in my life and this is just Gods way of "getting my attention". Maybe?  I just choose to believe that right now I am suppose to just live day by day.

I try not to think too hard about tomorrow because we aren't promised tomorrow.  You will also have to excuse my sarcasm.  I wouldn't actually slap someone, but as my husband has jokingly told me in the past, "I just slapped you in the face with an imaginary fish".  All joking aside, it is scary and I'm left wondering when  Chris or I are gone, who will take care of my Bean? These things run through my mind daily.  I am told it's normal, which I am sure it is, I just don't let it paralyze me.  I have accepted the fact that for the rest of my life I will have to take care of a person who will not be able to take care of himself.  I still hope for a treatment or a cure, but I am trying to be realistic about it all.  That is a hard pill to swallow. 
I get frustrated when I try and talk to people who believe that he will "get better and grow out of it".  Yes, I do still hope for that, but in reality it isn't going to happen unless a miracle from God heals my little boy.  Which I guess He could, but I don't bank on it.  I wonder sometimes what I would actually do if he was healed?  Would I still be an advocate? Would I still be spreading awareness to help others?  I don't know?  Most likely, but that is part of me protecting myself from higher expectations and being disappointed later.  Sometimes I seem to get frustrated with how things are not moving as fast as I want I find myself getting mad at my own child's situation for being who he is.  It is hard dealing with the meltdowns, no breaks, no vacations, the financial stress and no help on a regular basis.  I do tell myself that it could be worse and I am sure it can be. It doesn't mean I don't have an occasional pity party. 
I have to keep strong, but sometimes I really need someone to be strong for me and my family.  These past few months have been trying on my patents and nerves.  I want my little boy not to have to suffer the confusion that goes on in his brain due to seizures.  His behavior has been off the chain lately and after many visits to the neurologist we are still waiting for a more conclusive solution to his emotional meltdowns and obsessive behavior.  On the bright side, Beckett has had more verbal progress in his speech.  He is trying to say more words and simple 3 words sentences.  He knows his manners and says "hank you" and "peeese" when something is given to him or when asking for something.  I hope the new EEG results come soon and that we can find a medicine that will work better to control his seizures and behavior outbursts.

Beckett's 3rd EEG of 2014

Busy Busy Bee!!

Over the last month I have been super busy.  I had the great honor of being able to attend a Patient Advocacy Summit in Huntington Beach, California with a fabulous foundation called Global Genes. They also had me as their guest at the 2014 Tribute To Champions of Hope Gala.  I learned so much and met so many people that have been an inspiration to me. It has renewed my energy and hope to continue to pursue my dream of raising awareness for SYNGAP. http://globalgenes.org/ 

 

 

 

Another parent and myself have become the co-founders of our new non-profit called Bridge The Gap - SYNGAP Education and Research Foundation.  Our mission is to serve, educate and fund research for families coping with the effects of SYNGAP mutations. We have an outstanding group of individuals on our board that are from all walks of life and are driven to help children and families effected by SYNGAP. We are in the beginning stages and are in the process of filing for our 501c status.  I am so excited that doors are opening for us and know in my heart of hearts that when we are 100% established that we will be able to make a difference in lives of those who are looking for answers.  I will always keep hope for my own son to be able to take advantage of any therapies or cures found, but if not it will all be worth it to be able to help those we can.   I look forward to every day to see what new and exciting things are going to happen. 

 

I have to admit it has been very difficult to change my attitude and I sometimes still have my off days just like everyone.  A friend of mine Carrie Ostra, who I have been working with through Global Genes said something to me that has resonated in me since.  Just a quick back story first.  Carrie lost her little girl to a rare genetic disorder called Gaucher's disease at the age of 3.  I met her for the first time in person in California.  I told her how much she inspired me and how she had lived so positively and continued to fight after she had lost her precious baby.  She looked at me and said these very simple words, "What is the alternative?"  I was floored.  She was right.  What is the alternative to living positive?  It's crazy how those four words changed my thinking and still wondering why it took me so long to see it.  Granted, I still have me days that are hard and I still have those little pity parties, but I remember those words of a mom who lost her baby who is driven by living her legacy by helping others.  How fulfilling!  God uses people in mysterious ways and He spoke loud and clear to me through her.  I hope that I can pass that kind of attitude on to others through what our foundation is trying to do.  I pray that the good Lord above blesses it and allows us to bless others though accomplishing our mission.  Please check out my friend Carrie's Little Miss Hannah's Foundation, named after her daughter.  Beckett also carries the gene mutation for Gaucher's Type I.  http://littlemisshannah.org/

 

 

Little Mr. B has been a busy, busy bee also.  He has a runner with the IRUN4 foundation who ran a marathon for him last weekend.  She did so good and we are so proud of her.  Kricia is an awesome friend and runner!  Of course you can see here that he is sporting the shirt she sent him. 

Beckett has been having trouble lately with his behavior and we believe that his medication will need to be changing again.  We went and saw the Pediatric Neurologist this last week. He will be doing research on SYNGAP children at Texas Children's and he is also a board member with our foundation.   He has ordered two MRI's and a new EEG for Beckett.  One type of MRI is new technology and can actually see the connections being made in the brain when "neurons talk".  I am curious to see what the results will be.  I am hoping and praying that Beckett's behavior begins to get better.  He has been scratching, biting and screaming consistently and especially when he doesn't get what he wants.  On the up side he has learned how to navigate and play simple games on the Ipad.  He seems to love it!!
 

An On Going Phase

It has been a busy summer.  Beckett has been going to day camp every other week with his twin sister.  We were suppose to start his ABA school in July, but have had to put it off until we can see about our finances.  Our insurance deductibles have gone up again.  We are still trying to pay off our loans from previous deductibles from past years. Another issue that we had with starting ABA is that we can't get much help from my parents who could bring him and pick him up, but have other things going on in their lives that keep them from helping us a lot. 

On the upside, Beckett seem to be progressing much faster than in the past.  He is beginning to repeat words and communicate with everyone.  This is huge because his frustration level has gone down a lot.  He is following simple directions and beginning to problem solve. An example of his problem solving is when I told him to leave the chain to the light on the ceiling fan alone.  He would stand on the coffee table and pull it on and off.  When I wrapped the chain up so he couldn't reach it he jumped down and ran to the switch at the wall and turned the light on and off from there.  I was shocked that he even put two and two together.  But he seems to be figuring it out.

Behavior wise he has started to have more fits when he doesn't get what he wants or is trying to get attention.  His new thing is striping his clothes off and then peeing on the floor.  We have had a couple of incidences at camp where the teacher turned around to see what the kids were laughing at, and Beckett had his pants down to his ankles.  Now it's all fun and games.  I am also a little stressed about school starting. This year Beckett and Pyper will be attending different elementary schools.  Pyper will be going to her regular school and Beckett will be attending a new school that offers life skills.  It is a sister school in the same neighborhood.  We were quite upset when we found out that our school district will not bus Beckett from our daycare due to the fact that it is not in its attendance zone.  Funny thing is, the school he attended last year that was out of the attendance zone and he was at the same daycare and was bussed with no problem.  We will be addressing that with some higher ups in the school district. He has transportation that was agreed upon in his IEP meeting last year and haven't had an IEP to remove it since. So right now we are having to pay the daycare to bring him to school.  I am sure I will all work out though, it always does.

In the meantime while the twins were in camp I have been working on several projects.  The first project is with another SYNGAP parent and myself, We are working on organizing a non-profit foundation.  We are in the beginning stages right now.  We have submitted our name reservation, which it is going to be called Bridge The Gap- SYNGAP Education and Research Foundation. Our board members have been chosen and we will be submitting our next application for the establishment of an incorporation.  We will be very busy this year working to get it all together.


The second project I have been working on to raise awareness of a House Bill that needs to be mandated in to law. I have been visiting my Congressional Members of Congress to draw attention to this Bill.  It is called the HR 1591 The Charles August Long Undiagnosed Diseases Research & Collaboration Network Act of 2013.  This law is named after a 5 year old boy who passed away undiagnosed.  His name was Cal.  Doctors are still searching for his killer.  Here is a little background on this bill and why it is so important for it to pass.

Many families have been searching for a diagnosis for several years to no avail.  Giving physicians the ability to search a national registry to help diagnose their patients would be tremendously helpful to all of the families on the journey to diagnosis.  The waiting for answers and not knowing what a child’s future holds is tormenting for so many.  This tool would be a GREAT advancement in the handling of cases of individuals searching for a diagnosis.  Unfortunately, this cannot be implemented without YOUR HELP!
The bill, HR 1591, would help individuals and military Service Members and Veterans who have unexplained symptoms and medical problems by establishing an undiagnosed diseases registry. Currently there is not a registry that helps physicians and researchers diagnose and treat those with unexplained conditions. (http://www.urourhope.org/tag/hr-1591/)
It would also:
• provide physicians who are handling undiagnosed cases to search for similar cases and to network with other physicians handling similar cases in order to find a diagnosis
• enable physicians to cross reference undiagnosed diseases with other common diseases and rare diseases to help find a diagnosis, identify similar findings and potential treatments.
• help physicians and researchers describe prevalence of cases of undiagnosed diseases throughout the United States while making necessary data available, such as environmental, generic and occupational factors, that are associated with undiagnosed diseases.
• help physicians and researchers better outline demographic factors of individuals who are undiagnosed.

Please contact your representative and ask them to co-sponsor this bill. 
 

HEAR MY CRY!!!

Over the last few months I have been trying to find my place.  Asking myself questions of ,"Where do I start?  Who will listen?  Who really cares?"  I am learning that more people do care, but there is so much going on who has time to do much about another person's problems.  My steps have been small, but as I look back on two years of shouting to the sky, I feel like I have been heard.  I am so excited to announce that the group www.GlobalGenes.org has published my son's story.  I have been a volunteer advocate leader for them and trying to help raise awareness of rare diseases and rare genetic conditions. This to help inform the public to to pass legislation that will benefit the Rare Disease community and encourage them to contact our United States Congress.  If you would like to read the published story about my son, please follow the link.
http://globalgenes.org/mom-spreads-awareness-about-rare-syngap-1-gene-disorder-after-sons-diagnosis/

Please contact your US Representatives and ask that the pass the following legislation.

If you would like more information on the pieces of legislation being discussed please follow the links below:

House Bill 460:   http://beta.congress.gov/bill/113th-congress/house-bill/460/

House Bill 1591:  http://www.facebook.com/l.php?u=http%3A%2F%2Fbeta.congress.gov%2Fbill%2F113th-congress%2Fhouse-bill%2F1591%3Fq%3D%257B%2522search%2522%253A%255B%2522H.R.%2B1591%2B%2522%255D%257D&h=dAQEaOjeQ

In the meantime, Beckett has finished his Kindergarten year and is looking forward to a relaxing summer.  We are hoping that he begins his ABA school in July and looking forward to seeing his progress.  Since last summer we have seen vast improvements in his verbal communication and his cognitive level has improved. He is saying his siblings names so that you can understand them and is having a better time expressing his needs verbally.  He can following two word commands and understanding directions more so than he ever has.  We believe that since Beckett's seizures have been controlled his learning has increased at a more rapid rate.  I am super excited to see him grow and develop when he begins Spectrum of Hope. 

https://www.facebook.com/photo.php?v=10202000707371403&l=1997653894636273445

 

Beckett's Kindergarten Year in Review - He's Happy

Just wanted to share a short video of Beckett and his sister Pyper's Kindergarten year.  This is Beckett's favorite song by Pharrell Williams - Happy

Hope you enjoy!

A Different Perspective

Beckett and Daddy decorating Easter Eggs
Easter 2014

A new special mom friend shared this with me a couple of nights ago. A poem written by Emily Kingsley.  This mom happened to see it while her son was in NICU.  You may never experience the life of raising a special needs child. I am not a victim, I am not helpless. God has given me a purpose and a greater love than I have ever thought I could experience. A selfless love. A life of gratitude and appreciation. Not one to be bitter, envious, or selfish. I will admit that this is the hardest thing I ever have had to do. The strength I have is only through my faith in Christ. If I influence you in a way that is encouraging and one that builds, then I have done my job. I am no better than anyone else in this world. I do what I do because its to tell you that you could if you needed to too. If I died today and people spoke of my life, I would want you all to know that I would hope that those things above you would remember me by.
________________________________________________________________________________
Welcome to Holland
I am often asked to describe the experience of raising a child with a disability – to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It's like this…
When you're going to have a baby, it's like planning a fabulous vacation trip – to Italy. You buy a bunch of guidebooks and make your wonderful plans. The Coliseum, the Michelangelo David, the gondolas in Venice. You may learn some handy phrases in Italian. It's all very exciting.
After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, "Welcome to Holland."
"Holland?!" you say. "What do you mean, Holland?" I signed up for Italy! I'm supposed to be in Italy. All my life I've dreamed of going to Italy.
But there's been a change in the flight plan. They've landed in Holland and there you must stay.
The important thing is that they haven't taken you to some horrible, disgusting, filthy place, full of pestilence, famine and disease. It's just a different place.
So you must go out and buy a new guidebook. And you must learn a whole new language. And you will meet a whole new group of people you would never have met.
It's just a different place. It's slower paced than Italy, less flashy than Italy. But after you've been there for a while and you catch your breath, you look around, and you begin to notice that Holland has windmills, Holland has tulips, Holland even has Rembrandts.
But everyone you know is busy coming and going from Italy, and they're all bragging about what a wonderful time they had there. And for the rest of your life you will say, "Yes, that's where I was supposed to go. That's what I had planned."
The pain of that will never, ever, go away, because the loss of that dream is a very significant loss.
But if you spend your life mourning the fact that you didn't get to Italy, you may never be free to enjoy the very special, the very lovely things about Holland.

Written by Emily Perl Kingsley

 

Please Help Us Raise Funds For Beckett

These funds will be used to help pay for Beckett's ABA school and medical bills.

Thank you in advance for your support!

Tired...

This is the part of the year is where it really gets hard to get up in the morning.  The same routine for approximately 187 days. Starting with getting up, organizing backpacks, fixing lunches, gathering clothes for school, making breakfast, getting dressed, doing hair, make-up, pouring a cup of coffee to go, grabbing the purse & backpacks then throwing kids in the backseat and go! Whew!  That's a mouth full!  Granted, I do understand that it is probably half the population of working women with children that carry out the same routine, but to add to that the harder days are when I have only had about 4 hours of sleep. This is due to Beckett getting up during the night and trying to get him back to sleep, if he ever does. It's even harder to get up at 5:30AM and do all of the above plus tack on entertaining/teaching a bunch of squirrely 6th graders science. But I have to laugh at myself when I have to top off the day like it started only to come up with an explanation to why they are going to need it in the "real world".  Makes me want to stick pencil in my eye!  LOL!  I am happy to say I am glad I only have 42 days left of school.  It's been a rough year this year.  I sure hope next year is much better and less tiring.

 

I am waiting to find out if Mr. B will be able to attend an ABA program here close to us.  If he does happen to get in we will have to find a way to get him there in the morning since I am working.  I am hoping that an online teaching job comes my way so that things will be a little easier to get him there.  We will be going back at the end of April to find out if his seizure medicine is working like it should.  I am thinking that it possibly is going to have to be changed because of his sleep disturbances and irritability increasing during transition times.  Another item on the list that I am going to have him checked for is a condition called PANDAS.  It is an autoimmune disorder that affects the brain, heart and joints when the body is exposed to the Strep infection antibodies.  We have noticed over the past few months that Beckett literally turns into a different child when he has a Strep infection.  So that is on my list of thing s to talk about when we return to the neurologist. 
I am hoping for some answers and a solution to some of his sleep problems.  Sleep is a good thing...I wish I could have more of it!

So Proud of My Bean!!

It's been a crazy few weeks.  I've been gearing up for our Houston Livestock Show and Rodeo!  I absolutely love rodeo even though it can be really tiring at times, but so worth it!  If you are ever in Houston, Texas for a visit in March, you need to put the rodeo on your bucket list of things to do before you die.  There's not an experience like it. You really have to check it out!  I am what they call a Gate Keeper.  I am the one who welcomes you to the Rodeo and takes your ticket to get in.  It's a blast and I love meeting new people from all over the world.  http://www.rodeohouston.com/

In the mean time, I have been working to collect as much data for Dr. Michaud from other parents of children with SYNGAP.  I am still trying to get in touch with the genetic doctors at Texas Children's Genetics Clinic. I am trying to get them on board with Dr. Michaud and Dr. Parker from the UK to help define SYNGAP and have it identified as an actual diagnosis for the medical DMP.  I am also super excited to have at least 7 of the families in the US that have gotten the information packet from me to send to Dr. Michaud.   I am also excited to hear about the new discoveries that Dr. Michaud and his colleagues are going to be publishing soon.   I will keep everyone posted on the developments as they arise.

Beckett Spelled His Name Out At School

On the other side of things I have been so very proud of my Bean.  Beckett's teacher at school has been helping him to spell out his name in letters.  He also has been trying hard to write his name.  Since he has been on his seizure medication he has really progressed more than I expected.  He is more aware of his surroundings and making more of an effort to communicate his needs with us.  He is learning something new everyday.  He is imitating almost everything he sees.  I am so glad we found out about his seizures.  It has made a world of difference.  Of course we still have the melt downs when he doesn't get what he wants, but I guess that's normal for a child who is at the mental age of three.  We are working on trying to be patient and having to wait for things.  I didn't realize how hard teaching that concept is.  I assume that when he matures a little more he will eventually get it. 

 



 

Past Memories - Beckett @ 7 months old

I realize that this is a long video, but we wanted to capture Beckett's behavior, facial expressions, motor movements and over all reaction to certain stimuli (the vacuum).  Please ignore the last couple minutes, my husband seemed to get creative and video me vacuuming the curtains...SMH!  LOL!  At this point in time Beckett could not sit up, crawl, had very uncoordinated movements, was very sensitive to sounds. As you can see in the video he suffered many months with acid reflux.  I knew at 4 months that something was wrong when he could not hold his head up, grasp toys, or sit up on his own.  He screamed during bath time.  We could bot figure out if it was the water temperature, being naked, or the feeling of the water itself.   He was a very happy baby for the most part.  As you can see his twin sister was functioning at normal age and hitting all her milestones.  I believe that Beckett being with his twin helped model behavior and help his imitation of play.  About 6 weeks after this video was made we had put him in physical therapy.

The video below is the first year Beckett was in the Early Childhood program in our public schools.  This is one of the moments I treasured and knew that he had an idea how to comprehend some things.  I was so excited.  He was 3 1/2 in this video.



New Year - New Goals

It's been two weeks since Beckett's epilepsy diagnosis.  He seems to be doing well on his medication.  We started with 2.5ml of the Zonisamide liquid and we upped his dose to 5ml last night.  He looks to be more aware of his surroundings and not so confused.  He has been making more sounds and communicating much better.  He actually sits and watches cartoons much longer than he ever has.  I have always thought that the flashing, flickering lights from the TV caused him to be distracted and triggered some of his epileptic disturbances.  It's like a new world has been opened up for him. He seems more aware and his receptive speech has increased substantially.  The unfortunate thing is I think this has triggered his terrible 3's again.  His "awareness" has made him a little more independent, resulting in the attitude of I want what I want...NOW!"  For example, every time we get in the car and start to go somewhere, if it's not where he wants to go he throws a wall-eyed fit!  I'm not really sure how to pacify him at this point, but like everything else; trail and error.  One thing I have noticed with him on the medicine, is he loves to sing.  He can hum a tune almost exactly at the same pitch as the song.  He knows what comes next in the song.  I wish he could talk.  Sometimes I think he is not as slow cognitively as once thought.  He just has no way to communicates what he thinks or wants.  He is making slow progress.  I try not to worry about the future, but it is always in the back of my head how he will be when he gets to be in his teens and adulthood.

Playing at the Park on the BIG slide!

My goals this year are to try and find a way to get him the therapy he needs, start a foundation, and find a job that is more flexible and to get my thoughts and worries under control.  I never imagined how hard this life can be.  A lot of my frustration and worries come from the feeling of not getting the support we sometimes need from people.  This can be a very lonely journey.  Most people just go about their daily lives and don't give a second thought about how they can help.  Sometimes by help, I mean just watching the kids for a night a month so that my husband and I can spend sometime together.  People don't know how it really is unless they live it.  Sad part is, most don't want to know, so they just avoid it and exclude themselves from the equation all together.  So I try and let it go and continue to chug on.  That's all I can do, sometimes that's all there is to do.  I do pray God's blessing on my family.  I know he will come through as always, even though I have to admit I get angry at times because He doesn't move as fast as I would like.  But all in time, right?  I am thankful for the strength He gives, because some days I really don't know how I get through them. 

Hiking along Cypress Creek

Ohhhhh....The Joys of A 20 Hours EEG...And we're only 9 hours in.....

Well today is the day for Beckett's 20 hour EEG.  Stick me with a fork...cause I am DONE!! Poor baby came in all in a riff last night because not having him on his routine. That is a big NO, NO!  I was already sweating when I hit the door of the hospital carrying with me 4 pillows, a rolling suitcase containing toys and clothes, an ice cooler with food to get us through, my purse and then Beckett in tow.  You would have thought I was moving in.  None the less, we finally got in.  After the attendant brought us back, Beckett just wasn't having it!  He ended up pooping in his pants.(seems he does that when he doesn't want to be somewhere) had to change his clothes then get him to take his time released melatonin WITHOUT ice cream.  LOL!! Yea..they got all that on video...Well, after I struggled to get new clothes on him and cleaned up, the melatonin started to kick in.  He finally fell asleep with me holding him in this little bitty chair they have in his room.  I sang and I rocked, I sang and I rocked..repeat...LOL! My back was killing me in this little chair and I'm looking around in, asking myself..I'm really going to entertain this child for 20 hours in HERE!!! They MUST be crazy!  On top of that..sitting in this chair for about an hour and a half, I had to go pee!  REALLY BAD! I realized..they don't even have bathrooms in these rooms.  HOW STUPID!  At least they have a sink so I can at least run the water and make me need to go pee more!  UGH!


 On top of all that, the electrodes were finally on.  BUT..and yes that was a big BUT! There was something wrong with the wires or the box.  So now I had too try and keep him asleep so she could trouble shoot the wires so they could get a good read.  I was actually surprised that he stayed asleep for all of it.  Now only to get him into the bed without waking up.  YEA RIGHT!  You got it...Murphy's Law!  When something can go wrong it will.  Someone really needs to go shoot Murphy!  Not even 2 seconds after I laid him down, he's up!  Yep! And I still can't go pee. My eyeballs are floating!  LOL!  Yes, sometimes that is all you can do is laugh just to make it through.  Time in is only 4 hours and he has only been hooked up for 2 of those. Finally around 1am he dosed off long enough so I could slip out and go relieve myself.  Then I came back.......get in bed next to him thinking I can get some shut eye too. NOPE!  Beckett gets up and decides to poke me in the eye after I dosed off.  He thought that was great fun!  The tech had to come back in to readjust the probes because he figured out they were on his head.  Now it's a game.  He is just laughing it up, loving the fact she is messing with his head.  He is super sensory and I think the pressure of her pressing on his head to put the electrodes on gave him some sensory input.  He was up now!  I am thinking to myself, "He'll never go back to sleep and they are gonna send us home".  I gave him another milligram of melatonin to see if that wouldn't get him back to la-la land.  Finally, at 3 am he fell asleep.  Of course at this point my back is killing me and I am so tired I have become delirious. So I am up now at 6:30am watching my boy sleep wondering what his little brain is doing.  Hoping I can make it through the next 11 hours.  We shall see!  I'm going to finish my cup of coffee now:) 



Sleeping Cutie Woke Up!...but we made it through 12 hours and said they got a good read..so we can go home now!!