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. 

Searching for Peace - Being Real

I have to admit, the last two years of my life have probably been the most productive and yet the most daunting I have ever lived in my life.  Change is coming.  I am trying to let go of dreams that will never be and focus on the things that are supposed to matter the most.  I can't differentiate between the two.  Do my personal needs to go first and everything come behind or does the mission come first? I am struggling with the demons and experiences of my past and looking to the future never wanting to continue the same pitfalls as before.  My childhood was a hard one.  I had every material thing I could want.  But the expectations I had to live up to being perfect has never escaped me.

I have been married twice, which I never want to marry again.  I never want to trust another person to fulfill the needs I crave. Yet I long to be loved and desired.  This is what it has come to living and dealing with the sadness of losing the life you thought you would have.  I feel selfish and not sure how to even feel.  The job I quit was the first problem, the second is not having the ability to change my life now due to the extenuating circumstances.  I know I need to be elsewhere to make the mission I set out to do be a success.  The dilemma, do I leave everything behind and do what I was called to do without the support I thought I would have.  Or do I stay and be miserable and unhappy for the sake of someone else's happiness.  I have literally hit rock bottom.

I don't see the light at the end of the tunnel.  I am coping with so many things I wish I could put on paper, but can't. Only a few know the inner workings of the last two years.  The loss of love and a life I was trying to navigate. I was deprived of being free because of the closet I was raised in. I was jaded trusting everyone thinking always others had the best intentions. I never was truly being loved or felt loved by the ones who were supposed to unconditionally. Making me grow up insecure and question my own existence in the world.  Therapy, anxiety pills and every so often glass of wine has been the coping mechanism.  I depended on people who I thought truly cared about me, take what they needed and leave.  I am trying to stay focused on the mission to find my son and others a treatment, but I can no longer do it alone.  Some of the people I depended on to help have fallen to the wayside, leaving me again to fin for the success of what I had set out to do.

I don't think the cavalry is coming.  Just like I know in the current circumstances there is no one coming to meet the needs I have.  I realize high expectations are what lead to depression, but where do you draw the line?  Everyone says you need to make yourself happy, but to make myself happy I would leave a wake of hurt in the path of me trying to be happy.  Is it easier to become numb?  The last 10 years of this journey raising a child with special needs has broken me. I feel like I have to live forever.  People see the smile on my face, but behind that is a person who feels unloved and just another pretty face.  I hang on only because I hope tomorrow will bring answers and relief. Waiting for peace. The struggle is real.

The "Rare" Butterfly Effect

The Miracle of the  “Butterfly Effect”

"Butterfly Effect"

We have all heard of the "Butterfly Effect" at some point.  Wikipedia simply defines it "is the concept that small causes can have large effects.”  Initially, it was used with weather prediction but later the term became a metaphor used in and out of science.[1] In The Vocation of Man (1800),German philosopher Johann Fichte noted that "you could not remove a single grain of sand from its place without thereby ... changing something throughout all parts of the immeasurable whole."

Living in the world of rare disease I have noticed, like Fichte, how one small change can have so many different outcomes. The accumulation of small things is not small I am guessing the same applies to any "sub" populations in which we live.  I have found The more you expose yourself to criticism the more people are quick to judge and pick you apart.  The more successful you are, the more genuine feelings and truths surface about how they "perceive" you and your "real intentions" behind what you are doing. Some of those are not exactly positive. This could go either way. People who were "nay-sayers" in the beginning all of a sudden see success and and try very hard to wedge their way back into your life to "get a piece."  Ones who aren't quite where you are, who have walked with you side by side to help; want what you have and snicker behind your back, envying you in your journey. Then you have "true friends" who stand by you, encourage you, don't block you out and are "gingerly" honest with you.  I realize it is nothing I have done to make people feel this way, I only hope that giving hope to others will rise above and overshadow the negative in this world.

Motives and Attitude:

I guess this brings me to my point. Our motives and attitudes drive the future of what you are wanting to achieve.  It can be productive or destructive. People tend to be judgmental by nature and how one presents their opinions and views can literally destroy the momentum of someone's mission.  I was warned in the beginning that putting yourself out in public would be difficult and to be ready to have a thick skin.  Wow!!! I actually questioned this notion and thought to myself, "Why would anyone want to destroy or bring down a great cause that could help so many?"  I had to sit back and think long and hard about why someone, ANYONE would want to do this.  People are out there doing that to people out of their own insecurity and lack of their own purpose.  How naive was I? Regardless, I see it as just that. A human weakness and struggle. I personally will try and continue to build people up regardless of how they see me.  I will continue to be myself regardless, of how I talk, dress and share my life with people.  I can't be everything to everyone. I hope that others don't expect me to be everything to them. We can only do the best we can and continue to fight the good fight for rare.  We should not see each other as threats, but assets to conquering a world we are already exhausted fighting for.  My vision is to see groups working together for the same mission, TREATMENTS FOR OUR LOVED ONES.  I hear this a lot, we are all in this together.. so if we are, let's work together and build each other up and not compete for it. Oh, and if you are expecting me to go into detail about the circumstances that led me to this post, well you will never know, because it just adds to the chaos and it's none of anyone's business.  Celebrate the victories and cry in the heartaches together. I think sometimes it's a good practice to stop and do a "heart check".  Where is your heart? Why are you doing what you are doing?   

Why I do What I do?

I have had several people question my motive and I am not really sure why.  I would think that it is natural to fight for your child to have the very best.  But amazingly, people still question my motives. No, I don't worry too much about those people because this is my calling.  I don't want a brownie button for doing something that I think any caring mother would do for her child.  I do however, find it a challenge when people tell me I can't accomplish what I intend to do.  Do not ever tell me I can't do something.  I will show you I can.  Many don't know what I did to continue the fight for my son.  It was very difficult to walk away from a 23 year teaching career, salary, benefits and retirement.  I have been told that was my choice to do so.  My questions to them. What stopped you from risking everything to help someone you loved?  Would you risk it all?  What stopped you from stepping out on faith to do the unthinkable?  I typically get the response of, "I don't have the resources or support to do that".  
Who said I did? If it's not there, you create it! Bottomline!  You have no resources? EXCUSE!  There is a big wide world out there at your disposal.  Use it for good and you will succeed. Don't EVER expect it to come to you, IT WON'T!  YOU GO GET IT! 

Yes, there are sacrifices.  I have paid many and still am, because I believe the cause I am fighting for.  I am just surprised that I still get judged for it too.  So my question would be... What would you give to make your child have the best quality of life?  For me the answer was simple.  I am doing what I need and will succeed.  I have sacrificed more than people know.  There are only a few who know my business and it's been difficult and excruciating at times to plow through.  But I stay the course. This is for my son, Beckett. I will not let people keep me from success of finding a treatment for him and others like him.  Know and understand that I will keep going.  People will judge, say no, have the wrong perception of and just flat out right not respect me and that doesn't matter. The right people will see me and my true motive and will get me to where I need to be to get my son and the others like him the help they need.  

After you read this...do a heart check... Why are you in it? Make friends, not enemies.  

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

Flashback Beckett's Story

I know many special needs parents and caregivers can relate to this story.  It's been 4 years since I really sat down and thought about our journey; where we were and where we are now.  I just want to recap the beginning again for those who came in after the movie started ;)

Beckett's Story:

In November of 2012 we found out that my son Beckett has been diagnosed with a very rare autosomal dominant disorder called SYNGAP-1 gene (6p21.3). I didn’t know whether to cry or breathe a sigh of relief. He was the first to be diagnosed at Texas Children’s Hospital Genetics Clinic. Symptoms of this disorder vary in severity and include mild to severe intellectual disability, speech delay, a spectrum of epilepsies and has been linked to autism. Our son Beckett has been in multiple therapies that include OT, PT, speech therapy, play therapy and music therapy.

I knew that something was not right when Beckett was 4 months old. He was not sitting up or meeting the same milestones as his twin sister. I began my search for an answer beginning with my general practitioner, then adding 19 more specialists to the list since his birth. After many tests such as an MRI, EEG, Cat-scan, Microarray and metabolic tests at 2 years old we found out everything was “normal.” But we knew that it was everything but “normal.”

He was unable to walk, feed himself, babble or talk. We waited 14 months to get an appointment to have an evaluation at Texas Children’s Meyer Center for Autism. They concluded that our son was going to have intellectual disability and a severe speech delay, but still no real answers. The Meyer Center then referred us to Texas Children’s Genetics Clinic for Whole Exome DNA testing.  After a grueling thirteen week wait for the results, we finally got the answer to his problems. It took almost 4 years to get a diagnosis for our son.

I was in shock and knew that it would be an uphill battle.  Our genetics doctor only found one published paper on SYNGAP1.  I knew that there had to be more, but sadly there wasn't.  On the drive home from the clinic I cried and prayed for answers to why.  Thoughts of despair and helplessness overcame me.  It took me about 2 days to process the news, but I was determined this was not going to break me. I had no idea the challenges I would be facing taking care of a special needs child while raising four other typical children who needed my attention and a marriage that I was unsure would survive and that is an ongoing struggle to keep a balance.

After a past of abuse in my own personal life before I was married the second time, I was not going to allow myself to be a victim any longer to anything.  I gathered my thoughts and decided then that I would do everything in my power to help him. Finding answers for him and others was my purpose. I began to blog about his progress and wanted to try and raise awareness of SYNGAP1 and find others like him. 
When I posted our diagnosis on my son’s blog I began to reach people from all over the world who were like me.  I created an information page through Facebook that is strictly for research on SYNGAP1 and brain based research that is related to SYNGAP1. The first parent who found me helped me set up a closed Facebook group for parents looking for support and a place to talk about our children’s medical progress and challenges.

As the Whole Exome DNA test becomes more common we see our group growing worldwide. The network we have created in this group has brought several international doctors together to work on research to define our rare disease. We continue to drive research to help find a treatment that will help our children. We have since created a nonprofit for education and research for SYNGAP1. Our group has doubled in the last year.  We currently add newly identified patients worldwide on an average of one per week.  Though this journey over the last four years has been difficult, we have had triumphs and trials. I wouldn’t change for the world. I have learned more about myself and the love I have for people than I ever thought I would if I had not been placed in this situation. I am very grateful and appreciate life more than I ever have and am truely happy doing a job I love.  I will not stop, I will not give up.  #NEVERSTOPPING

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

Life Orchestrated

Life amazes me sometimes.  This is so true, that when you think your at the lowest point and there is no getting out, things just seem to go up and fall into place.  My faith makes me believe that life is an orchestra that just plays continuously until God is finished with you. I am hoping that I'm not done being used yet...I have just started..:)  Over the last few weeks I have watched my life take turns that I never thought would happen.  People, places and things have all been set.  I do believe without my faith, diligence, and tenacity that things will not happen as they should. Over the last few weeks I have been given the opportunity to share Beckett's story.  Global Genes and CNN I-Reports have both published his story on the Internet.
http://ireport.cnn.com/docs/DOC-1144791

http://globalgenes.org/mom-spreads-awareness-about-rare-syngap-1-gene-disorder-after-sons-diagnosis/

We have submitted his story to the United States House of Representatives, Energy and Commerce Committee to help pass legislation that will help the rare disease and rare chromosomal disorder community.  I have been asked to share Beckett's story to be published in the official Tribute To Champions 2014 Gala program with Global Genes Project.  The most exciting part of these past few weeks, besides everything else has been the published; is the new SYNGAP research that was done by Dr. Gavin Rumbaugh and his team of scientists at Scripps Labs.

http://www.cell.com/neuron/abstract/S0896-6273(14)00401-2

Our group of SYNGAP parents are also anticipating a new study to be released mid-summer by Dr. Jacques Michaud and Dr. Michael Parker about SYNGAP and epilepsy.

An exciting summer and still more to come.  Our small group of parents are also in the beginning stages of forming a non-profit foundation that will support research, awareness and small medical grants for families and caregivers of SYNGAP patients.  So stay tuned for new and exciting stuff!

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Beckett has just taken off developmentally.  In the last three weeks or so his language has increased and he his trying to repeat every one's words, I mean every word.  That's includes when he heard the word "ass" and repeated it exactly as he heard it.  And this time, it wasn't me saying it.  I do have to admit it was pretty funny stuff.  We had to get serious really fast and tell him "No, no, no!"  So now he shakes his finger at you and says that instead.  He is also asking for help, going to the potty by himself, asking for snacks when he is hungry by pointing.  For words he doesn't know yet he is coming to me taking my hand and takes me to what he wants or needs.

I was amazed the other night as we were putting the twins to bed and he was all tucked in.  I was looking for his chewy tube and couldn't find it.  I was stunned to see that he got out of bed, turned on the light, came back to the bed and found his chewy tube in the sheets.  He then put the chewy tube in his mouth, went back to turn out the light and crawled in bed.  I sat there with my mouth open in awe and I had to pick my jaw up off the floor when I left the bedroom. It came to me that this boy is problem solving...LIKE FOR REAL!!! 
I don't know if the combination of the medications are helping or if it is just him "growing up" a bit.  I might think it is a little of both.  I have always wondered if the Omega-3's he has been on since he was two years old has helped his brain development. The seizures being controlled has helped his cognition, while the Zoloft has decreased his sensory anxiety along with a significant decrease in his OCD tendencies.  I am very happy with his progress and I am hoping it continues as he gets older. I can't help to think that maybe we have stumbled on to something with the Omega 3's, but maybe time will tell.  Maybe I should mark my words and hypothesize that maybe the Omega 3's are protecting the cells in his brain from damage that the seizures cause.  It's a shot in the dark..but that's usually where science starts, in an "educated guess".

One of our many visits at Texas Children's Hospital
He loves Mini Moo!

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

 

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

EEG Results are in...

Beckett was just diagnosed yesterday with atypical absent seizures (borderline epileptic). Will be officially diagnosed when he has 2 full blown seizures. Technically he has an abnormal EEG. The doctor has said even though he has not had any real seizures yet, he is at a high risk for having them. He has 2 types of epileptic activity going on in his brain. He has what they call epileptic disturbances which are a pre-episode of a full blown seizure, they just don't reach full capacity of a seizure. These disturbances are what causes an interruption in his learning and can cause confusion and meltdowns. We are treating those with a new liquid sulfur based drug that is used for migraines.  I am hoping that the medication will help elevate some of the absent type seizures he is having and hoping that it will help him to be able to learn and improve his memory.  It just seems there is a never ending medical string of diagnoses for my baby boy. I am hoping that one day he gets relief from the endless confusion he experiences.   

I do, because you just do...

..yes..life is not always greener on the other side.  It's hard to remember that when you are feeling sorry for yourself and wishing it was different, how things could really be.  People ask me all the time, "how do you do it?"..you just do because you have to..you could to if you had to...

Please watch...I have to remind myself everyday not to wish for something different..because it could be the kind of different that you would never think.

https://www.facebook.com/photo.php?v=10200907170114838&set=vb.351443748204703&type=2&theater

 

Summer is Gone...AND NEW MEDICATION IS HERE!!!

It's been crazy busy around my house these last few weeks.  I have once again started another school year.  This is my 19th year of teaching to be exact.  My husband and I have been teaching at the same school for 11 years, beginning our 12th.  I have 9 years and 173 days till I can officially retire from teaching.  But who's counting?  ;)
Since school has started I don't have preschoolers in my house at all.  Kind of hard to believe that my babies are growing all up.  Pyper has started Kindergarten and Beckett has started a half day PPCD and is being mainstreamed in Kindergarten the other half of the day.  I am so relieved to find before and afterschool care for the twins together.  Our FAC has accommodated us way above and beyond what they had to.  They have just loved on Beckett like he was their own.  Everyone in the Athletic Center knows him.  He's a charmer!  I know this is an answered prayer for us.  My stress level has come down a lot! 

Pyper and Beckett's 1st Day of Kindergarten

 

I am also pleased with the new medication he is on.  It is called Vayarin.  This is a medical food that is prescribed by the doctor.  It's primary use it to treat ADHD.  Beckett does not do well on stimulants. He freaks out when he comes down off them.  This particular "drug" is highly concentrated Omega 3.  It is formulated to pass through the blood brain barrier and is more able to affect the cells and provide the protein they lack.  This medication usually takes about 2 months to see the effects.  I saw a huge difference within 2 weeks. Mostly, I have seen an incredible difference in his speech.  I am flabbergasted at how he is now beginning to make more sounds, words and phrases than he ever has in his life.  I also have noticed a difference in his attention span.  He actually sits down and watches TV and videos on the computer for about 30 minutes at a time.  Before then that was unheard of.  He also seems more aware of his surroundings and tries to engage more with people.  Even his speech teacher at school has noticed a difference in his attention span and speech clarity.  This medicine has even chilled him out some.  He seems much less anxious about things.  This has been a medical miracle!!  He also sits and plays with toys and imitates more so than before.  It also could be that he is maturing a little bit too, but overall I am very pleased with the results of this medication he is taking. 

Poor Beckett had to have a tooth pulled this week.  When he fell on his front tooth in December swinging in a hammock, he again hit the same tooth and it abscessed.  So needless to say, having it pulled was an experience.  He is my little snaggle tooth now.  After some "happy juice" an some nitrous oxide, the dentist pulled his tooth out with out any struggle.  He did really good..and of course while they had him "loopy" they cleaned his teeth for the very first time. 
So far, it has been a great start to the year.  Now just to keep the routine!
 

Summer Blues

I guess I am going through the up & down emotions of having my oldest son in the United States Marine Corp Boot Camp right now.  He is in his 5th week and has started the 2nd Phase of training.  I worry about him getting hurt or getting sick.  I didn't think it would be this hard to let go as a mom.  His siblings are also missing him.  I can't remember the last time I actually watched the mailbox for letters.  Usually it's just the bills! LOL!  The twins seem to miss him too.  Pyper asks every now and then where he is and Beckett goes to his recliner every night to give him a kiss good night.  That's where Taylor usually was when he wasn't at work or at a friends house.  Anyway, I can't wait till September when he graduates and is officially a United States Marine!  Ooh Raa!!!

Since the beginning of summer we have had the twins in summer camp at our rec center. Beckett really seems to enjoy it.  He sure is tired though at the end of the day and has the occasional melt downs in the evening.  We ended up having to take him off his ADHD medication again, because of the irritability and anxiety it causes him.  It seems to cause his meltdowns to be worse as he comes down of the medication. 

I am happy to say that I have met another mom in my area with a son Beckett's age that has SYNGAP.  He is a little older than Beckett and looks a though he is hitting the same milestones at about the same time as Beckett did.  My new friend has told me about absence seizures that her son has.  I wasn't quite sure what they were until she explained them to me.  I have recently been paying closer attention to Beckett's behavior and have noticed that his inattention at times could be these types of seizures. I always thought his zoned out inattention could be chalked up to being his ADHD. She gave me the name of her neurologist and I have since made an appointment with him to check him for these type seizures.  So I am hoping to get clarification through a sleep study I am going to ask him to do. 

 

 

I have been feeling guilty because we don't' have him private therapy because of the cost and times available for me to have to go to work.  I understand much better how moms or dads have to give up their careers to take care of a special needs child.  It is incredibly frustrating!  I am glad that he gets to go to summer camp with his sister and be able to be around "normal" kids his age.  I believe it helps him understand the social expectations a bit better. I am also getting excited about him starting a full day PPCD and seeing where that will lead us this year.  Beckett is still on the waiting list for a day program for ABA, but we are still trying to workout getting to and from the program while I work.  I have faith the God will work out something if it His plan.  Hopefully the summer blues will subside soon.  I am trying to gear up for another year of teaching.  This will be year number 19 and counting!  Let's hope I can get to retirement..LOL! :) 

It's a God Thing!

It's amazing how when you think your entire world will fall in on you, something happens to catch you right before you hit the ground. This last week has been up and down.  As I had shared last week I was excited that Beckett was able to go to summer camp. Not even 24 hours after posting in my blog my excitement I get that phone call I was hoping I wouldn't get.  They weren't sure they would be able to let him stay.  He was having accidents in his pants and the little girl who was shadowing him wasn't really prepared to change dirty underwear.  I cried all day and night just praying that God would allow something to work out so Chris and I could get a break.  We had gone in to talk to the director and she said to us she really wanted this to work. She told us they were going give it until Friday to decide whether or not he would be able to come back the next week. I figured that Beckett was nervous and had high anxiety that was literally "scaring the poop" out of him.  When we returned on Thursday the director had said she was able to switch the schedule around to allow one of her counselors who was a  "mom" take care of him.  I was so relieved that she did that for Beckett. So far, he has been back this week, still having a couple of accidents but we now have someone who isn't worried about cleaning up a mess.  Come to find out Ms. Dee has eight children of her own.  She said it doesn't bother her at all and she was glad to be able to help.  I was so ecstatic when I picked him up he didn't have one accident today!! I hope the rest of the week at camp goes the way today did.

Besides the good news of Beckett not having an accident today.  The best was yet to come. I got a call from my geneticist this afternoon. He shared with me that he had gotten an email from a researcher at Texas Children's Hospital asking him if he had any families with SYNGAP1. He said to me; "Monica, I had gotten your email and two days later I received an email out of the blue from a researcher here at Texas Children's wanting to know if I had any patients with SYNGAP1.  I was scratching my head and thinking to myself, that's really odd and the two emails were totally unrelated?"  He began to explain to me that they are about to begin a study on SYNGAP1 here in Houston at Texas Children's. They are looking for families wanting to participate that have children diagnosed with SYNGAP1. He ask me if I would have a problem with him giving me Beckett's information. Of course my response was ABSOLUTLEY NOT!! This is great news!!! I am so excited the this has gotten more attention in the scientific world!!! I  am so excited that they want to use Beckett in their study!!! WHOOP!  Before I ended my conversation with Dr. Scott he mentioned again how much of a coincidence it was to get two emails in less than two days totally unrelated about the same thing.  I told him that that's not a coincidence...that's a God thing!! He giggled over the phone and said, "you are probably right, I do believe that God allows things to happen like this."  I told him, "This was an answered prayer!"  He told me, "Yep..I believe in those too!" 

Time for Summer!

We started the summer this last weekend visiting Galveston Island State Park & Beach.  You could say that this was Beckett's first "real" beach trip.  The last time we had brought the twins, they were only 16 months old.  I don't really count that one since they really don't remember it.  He loved the ocean.  He walked right into the water and into the waves.  He would have floated away if his daddy wasn't right there with him.  He was so excited!  I don't think I have ever heard him laugh so hard every time a wave hit him.  He laughed constantly for almost two hours strait.  We had some of the most fun that day and more was on it's way!

Beckett's First "Real" Beach Trip 2013

This week Beckett has begun his first ever summer camp.  I am excited and worried at the same time.  This camp is not geared for special needs children. Mrs. Darlene the director of the camp has made it possible for my son to be able to participate with the kids his age.  I am happy to know that she has taken an interest in making my son apart of her program.  She has made accommodation's for him and to allow him to be with his twin sister for 6 weeks out of the summer. A young teenage student has been appointed a help the lead counselor with Beckett and to follow him in every activity planned, even in swimming.  Of course, my biggest fear is him swimming...he can't!  He has no concept of danger or fear.  I also worry about him wandering off unnoticed.  I know that they are aware of all his habits and won't let that happen.

So today is his second day.  I haven't had a phone call yet to come get him, so I am assuming he is fitting in just fine.  I am so thankful that the FAC director has seen a need to include the children in her program with special needs.  I wish more childcare facilities did a better job of mainstreaming special needs kids with others.  I believe it is not only good for the special needs child, but the child who has no disabilities to serve others who need it.  I am sure his experience this summer will help him continue to progress and develop his language and other skills and also maybe expose others to differences they are not use to. 


 

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New FB Group for SYNGAP

Anyone who is a parent or caregiver of someone who has a variance in the SYNGAP gene is welcome.  Please join us to connect with other families who are dealing with similar situations.

https://www.facebook.com/groups/SYNGAP1CONNECT/

Thanks!




 

I AM ON A MISSION!!!

Please pass this on to any families that you may know that would benefit from this information. I have some great news!! I spoke with Dr. Michaud last night about my son's Syndrome SYNGAP1. He has ask me to help him find families of children who have been identified. He is working on defining the condition to continue his research. He is the doctor who created the test for SYNGAP1. This syndrome has children who have characteristics of developmental delays, severe language delay and many other symptoms that are mistaken for other things. Autism Spectrum Disorder symptoms and possible seizures can be seen in some of these children, ...but not all. Mostly this syndrome causes Intellectual Disability. He has ask me to invite ...families who have this diagnosis to contact him to help him define conditions caused by SYNGAP1. He has told me that once they have an official definition has been made, research can continue to the next step of starting more ...
studies in humans, since they have mouse model data. Please share this with parents you may know who have autism or unexplained symptoms to push their doctors to get genetic testing. This is huge, because most people settle for the autism diagnosis and stop there and don't push for testing. The more people out there who are identified, the more money for research, then research for possible treatments can be done. So..needless to say...I'm on a MISSION now;)

Please watch the video on SYNGAP1
http://www.youtube.com/watch?v=6NE7FgFBO_o

 Jacques L. Michaud, MD
Head, Division of Medical Genetics, CHU Sainte-Justine
Professor of Pediatrics and Biochemistry, Université de Montréal

CHU Sainte-Justine Research Center
3175 Côte Sainte-Catherine
Montréal (Québec)
Canada H3T 1C5
Phone: 514-345-4931, ext: 6900
Fax: 514-345-4766

jacques.michaud@recherche-ste-justine.qc.ca

 

Feeling Joy In Life Again!

It's been a while since I have posted an update.  I have done some soul searching that past few months and have realized that I had let my circumstance's in my life take control of my joy and happiness. I realize that through Christ, I really can't lose my joy, but I can be sad and unhappy when troubles  come up; which is ok. I just can't let it paralyze me.  I am going through the stages of grief learning to accept the life my child and family has been given.  I have come along way from the sadness in the last few months. God has shown me that He gave Chris and I this child because He trusts us to take care of him and raise him in the light of Christ and will use him for His glory. God has given me promises through the Bible that I stand on to keep me strong during the hard days.

Romans 8:27-29
²⁷ And he who searches our hearts knows the mind of the Spirit, because the Spirit intercedes for God’s people in accordance with the will of God.
²⁸ And we know that in all things God works for the good of those who love him, who^[a] have been called according to his purpose. ²⁹ For those God foreknew he also predestined to be conformed to the image of his Son, that he might be the firstborn among many brothers and sisters.

Ephesians 1:11
In him we were also chosen, having been predestined according to the plan of him who works out everything in conformity with the purpose of his will,

I have to remind myself everyday that God is in control and that no matter what happens there will always be a purpose that God has a plan for.  I have decided to get involved with a couple of organizations that I can give of my time and also encourage others with a message of hope.  This helps me to give of myself and help others in times of trouble.  You just never know when God will open a door that He will allow us to walk through.  It really does make you feel better to know you are helping others.  It helps too minimize the magnitude of your own problems. 

I have also learned that when you let negative consume you, the good sometimes is over looked.  Beckett  has been a huge blessing to our family. His smile and laugh are contagious and when he laughs, you laugh with him.  I often look at him and wonder what I would have done without him.  He is becoming more receptive everyday and learning to do simple tasks.  He is beginning to imitate behaviors I never thought he would.  He watches me do chores around the house and follows me to do the same.  He helps load the washer & dryer and even tries to help put dishes away.  He wants to help sweep, rake the yard, pull the weeds..(well, sometimes my flowers), help his daddy push the lawnmower, bag grass and even help sand his play house for it to be re-painted. 

His speech is getting better also.  On Easter Sunday a week ago, Beckett said his big brothers name for the very first time..."Taylor"...not so much with the "T" sound, but it was pretty darn close.  We were so excited!! He sings to the radio in the car, and just loves Bruno Mars! 

I know that there are going to be tough days ahead and that I still have to take it day by day.  But the only way I can make it is through the Grace of God!  Otherwise, I don't know how I would get through it.  I really don't consider myself a "preachy" type person, but I am being real about my thoughts and feelings.  I do also want to note that I am so far from perfect and am human like anyone else.  I just want to share with the world what God has done for me and my family. 

Easter Sunday 2013