The Need for Endurance

It's been quite some time since I have written my thoughts down. I have so much to say and not quite sure where to even start. The last three years of my life have been filled with trauma, heartache, disappointment, yet it has been the most surreal life I ever thought I would experience.

Three years ago I had quit my job of 23 years.  A career in teaching science to students ranging from 11-66 years of age. I taught college for 2 years, then high school for 7 years and on to middle school for 14 years.  I'm an expert in all science subjects from physics, chemistry, biology to geology and everything in between. I never knew that my experience teaching would ever lead to founding a nonprofit. I knew that the skill set I had I could lead it to help patients with SYNGAP1 find treatments.  I personally gave up a lot, my family gave up a lot. Not that being a teacher I had much to give up material wise, but it was everything I had to try and move forward what I thought was the right way. It has been the right way, the only way to lead to treatments. It is working and the model blueprint is one that many are following and wanting to replicate in the space in which I work. 

Leading an organization in a direction takes strategy. We must make sure that we were doing everything we can do on a shoe-string budget. This was a calling, this IS my calling! Many do not know that I gave up my retirement, salary, benefits and life savings to put into the job I love now to make it work. I paid for all my own trips and most of the overhead for the first 3 years of the organization until I was hired for one thousand dollars a month. Thing is, not many cared that I did that. 

That sacrifice has cost me much along the way. This includes time with my family, a decent wage, my marriage and I could name a few other things but the list would just go on. Yes, I chose to do this, as I was reminded repeatedly by those who said they stood by me to help. Only to realize they were only drilling holes in the boat you were rowing to try and make something work. Those didn't stay. They didn't believe, nor did they have the endurance to see it through. It is better that way. People who do not share the same vision become stumbling blocks.

I work very hard, just like the majority of the people who support our efforts for our community. I have a really hard time when those that had been with me since the beginning and who KNOW me have anything different to say. It is disappointing that a few do. It is true, you can't please everyone all of the time. You can only please some of the people some of the time. Standing back is the hard thing watching all the way through as people try to undermine the hard work you are doing. This work will still benefit them in the long run. I will never understand it. I was taught a long time ago that there are wolves in sheep's clothing. I never realized they could be in your own pack. However, it was encouraging that one of my colleagues I work with sent me what I needed to hear when I was at my lowest point.  

She sent a message and said to me, "Endurance is Mandatory"!  Therefore don't throw your boldness, which has a great reward. For you need endurance so that, having done the will of God, you may receive the promise.  Hebrews 10:35-36  

She reminded me that if God called me to this job, then those that fight against me is not really me they are fighting against.  They are fighting against God.  I have poured so much energy into doing what is right, and God has given me the endurance to continue. There are days I have sat in a corner or lying in bed in tears sobbing, asking the question why? Dealing with the sleepless nights and worrying about what to do next. The depression I have been fighting and the choice I made.  Asking myself when will it pay off?  When will we get treatments? Will my son benefit? Will the community be disappointed if I can't deliver? What if I can't keep hope alive?  The questions I have and the weight of the world on my shoulders are killing me. I had to keep believing. I have to keep believing. 

Not many know my personal story. Eventually, my story will be a book. If I could tell anyone anything, it would be to never lose hope, continue to persevere and NEVER put limits on yourself. My parents were told by my 3rd-grade counselors and teachers I would never read above a 3rd-grade level. Fast forward to 10th grade, the counselors told my parents to not send me to college. They went on to tell them I would never succeed and were setting me up for failure. They also said I would be an incredible hairdresser! That same year they determined I was dyslexic and had several other learning disabilities. My parents never told me this until I walked across the stage to be given my Bachelors of Science in Biology. I finished it in 3 1/2 years. I never failed or dropped a class. My heaviest load was 18 hours in a semester. I went back to get my Education Certification to continue on later teaching 16 years in the same school district in which my parents were told I wouldn’t make it in an academic setting. THEY WERE WRONG! The rest of the story will be detailed in my book...never put boundaries on a person's abilities. 

I fight depression every single day. I want things to be different.  I realized that the only way to make things different is to keep going. Pay no mind to those who come against you. Stay focused. Rest if you need, but get right back up and fight the good fight.  Don't let others who don't understand your vision keep you from seeing what has been put in your heart. 

Coming Out of the Dark

Most of us in life have been hit pretty hard in the gut at times.  I am no different. Sometimes things happen to make our perspectives change about people, their intentions, and motives. Life is one experience after another.  The last two years have been the best and worst of my almost 50 years on this planet.  I have dealt with egocentric, arrogant and self-serving people who wear masks to get what they want.  I have worked with people that are so insecure about their own existence and let their envy and jealousy of others take space up in their brains, which eventually leads to them being unhappy and unproductive, then turning on you to be your worst enemy.  These combinations of people are what make life extremely difficult to navigate, especially if you are a people pleaser like me. I allowed these type of people all of my life prevent me from being who I was suppose to be. I can now say within the last few months of my life, I now understand that your calling is way more important than pleasing those who really don't give a shit or are the "right fighters" in this world.  They would rather be right than work towards a common goal.

This has all played out during a tough time in my own personal life.  There have been days I would go so deep into the darkness that the words of those who critique your life, personality and your drive seriously wanted me to slit my own wrists.  All my life I have been searching for affirmation, the acceptance that what I was doing was "good".  It is daunting.  My childhood was not a good one mentally or emotionally, yet I had almost every material thing I could ask for. It led to who I am today. I struggled to please the ones who were supposed to love me the most. I knew they loved me the best they could only because of how they were taught.  I never measured up to the expectations of what they thought I was supposed to be. However, it made me into the fighter I am today.  The downside, it allowed me to have high expectations of others, and they couldn't meet them either, causing me stress and frustration. To top it all off,  I struggled through school having to deal with multiple learning disabilities.  I was called dumb, lazy, stupid and for lack of words felt like I was the most unworthy person who walked the planet. I was mocked sitting in the "special classes". Funny, people laugh when I tell them I couldn't even get a date in high school. I was expected to sit pretty and keep my mouth shut. 

After the last few months, years I hit rock bottom.  The lowest and most devastated I could ever feel.  My rock bottom almost caused me to lose the one thing I love the most, my family and my children, my life.  The dark depression I was experiencing made me escape into fantasy land and working overtime to avoid the emptiness I felt.  It was incredibly lonely at times.  God was nowhere to be found, the one thing I had always depended on to get me through.  I lost faith. I lost myself.  The one thing that woke me up was the calling I had to continue what I had started.  It is a still small voice that whispered.  "I am here! Look up at me and know that I am here".  I glimmer of light.  To be honest, the thoughts of ending the life I knew was real.  I woke up. I had forgotten God had a plan for my life regardless of those who come against you. The depression had consumed me to believe that I was no longer needed here. Yet it allowed me to see what is essential and most importantly WHO is critical and that I am important.  The other no longer matters. This is God's plan, His work and no person can destroy what He has planned.  I am just coming out of the dark, trying not to allow those who are good at sucking you back in affect me.  Baby steps.  Every day I must choose to keep going and focus on loving myself, which does not come naturally to me. It is a commitment mentally, just as I had committed to work out four times a week for the last 5 years to keep my physical body in shape.  It is now time to keep the mental and emotional self in shape. I now need to grow a thick skin. Sometimes it takes a swift kick in the gut to get you to come out of the dark to find the light again.

     

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.

Stonewall

Have you ever looked at a stonewall?  The ones I saw were old, ruined and tattered, but rustic, peaceful and beautiful. They typically last a lifetime or more.  I had made a trip recently to an old historical town, and much of the architecture was of stone. Many stonewalls surrounded the perimeter of the properties.  I wondered how long it took a person or persons to build a structure as tedious as that.  First having to find the stones, haul them from their resting place to the location they are now.  Cementing them together to build a wall that stretched many yards and sometimes it looked half a mile long.

I thought about my own life and how it relates to a stonewall.  The beauty of the random shapes of the stones and beautiful colors of slate grey and random orange and red streaked threw out.  The edges of some were smooth, and yet some were jagged and rough giving it character.  The appearance of these beautiful stones made by the harsh weathering and pounding of the elements.

I think of my life as this stonewall. The challenges and many defeats of living a life I never thought I would have too.  Trying to survive depression, anxiety and the day to day.  Sometimes having nothing to look forward too also. I find myself feeling guilty for feeling this way.  My son Beckett is doing outstanding.  He is flourishing and making incredible progress.  His seizures controlled, he has close to 500 words where  3 1/2 years ago he had maybe 30.  His behavior has improved, he is learning and making leaps and bounds with problem-solving and following directions.  I should be happy, but I am honestly not.  I feel I try every day to get closer and closer to freedom and relief. It doesn't come.  I keep hoping and try never to lose hope.  I wish I could have the life I dreamed.  Happy, in love, secure and not having to fight anymore the battles to make our lives better.

I thought of my life as this stonewall.  Every aspect about it, the energy it took to build, the weathering it went through to be as beautiful and spectacular as it has over the many years it took to get that way.  It is still standing.  Standing firm, ready to fight another day with the elements.  I try to keep going, but some days, one of those stones falls off that wall.  I saw the rocks on the ground. I wondered who would come by place those rocks back where it used to be?  Who would be the one to go and put me back together?  Some of those rocks have been waiting a while to be put back, but then there are others that will remain there for a lifetime. Even if they stay, they still become a part of the beautiful landscape that surrounds the wall it once belonged.  I guess in either place, either the wall or on the ground you still are a rock.  A rock for others to build from and sometimes to sit and be a beautiful piece of the landscape.  Either way, it is difficult to be either one.  Even feeling alone, I still am the rock on which my son and family depend.  Weathered, tattered, and rough around the edges. One day I will find the beautiful happiness for which I was meant to have.  This stonewall will not keep me prisoner of the happiness I deserve.

The Hard Part

I keep saying I am going to write a tell all book one day... Well, it may come sooner than later.  In my almost 50 years of living these last 2 years have been the hardest to cope with.  The excitement of working to try and change the lives of others has been incredibly daunting.  I thought that doing something you love would bring great joy all of the time.  Which by no means doesn't mean I don't still love what I do, it just means I have had to deal with more people, more personalities, more points of view. Now it's coming down to the hard job of separating my personal life from work and dealing with problems circulating around business.

The line between being a parent and a leader of an organization has to be drawn.  The emotion and distinction between the two can't be mixed.  You are either a leader or a friend.  When it comes to business I must take the parent hat off and look at decisions made objectively. Removing ALL emotion to do what is best to focus on a mission I set out to accomplish.   That means sacrificing even more to get the job done the right way.  I didn't understand what it meant when said "It's lonely at the top".  It is lonely at the top.  I have realized so many things about human nature and how success changes the people around you.

I think sometimes people forget I am also dealing with the challenges of caring for a child with special needs. Grieving the loss of a son I will never have and accepting the fact I have to let go of the hope that what I am doing may never help him.

I am devastated by the fact that I have people thinking I am doing is all for selfish gain and to control. I am a person who has a calling to go out and try to do the very best I can. Paving a path for others that come behind me to make a better life for their loved ones. The most important part, to know they are not alone.  They may not like the way I have chosen to create this path or even the direction to keep it going, but it will not stop me from continuing. I will go with those who choose to help. I don't put on shows and I don't expect anything extra but respect.

My son and family live without me being there much of the time because I chose to help find treatments for others. My family has sacrificed relationships, money and mental health issues for this cause. Of course I chose this, my question is why wouldn't have anyone chosen to do this for my son? Why did no one else in the world step up?  Then I am questioned about my motive.  I have wanted to quit and leave it all, but who would do it?

I keep going because the few who don't understand or try too are not my concern.  My mission is to help ALL those that walk into my path.  I do what I do, because if I stop I would regret living knowing I missed reaching the goal for another to have a better life.  MY SON IS WORTH ME NOT STOPPING!  It's been an emotional last 2 years with the struggle of severe depression, thoughts of suicide of loved ones, therapy, antidepressants, a broken marriage trying to recover, financial burdens and then trying to find yourself and just love and acceptance.

The last few posts have been dark. This is real! This is life! This is me trying to cope.  As long as I am alive I will not stop and I will not give up the fight to find hope and happiness.  I will plow through the mud and dark hours and one day I will reach the light I am working so hard to find.

Broken

Have ever been broken? Almost like someone has taken you and ripped you into two, not even just two parts but into shreds? Your heart, mind, body and your spirit just cut into pieces all at once.  I am broken, tired, worn out and struggling to keep a smile on my face. Smiling through the tears. That's what it feels like to live and deal with a rare disease every.single.day!  How does one cope? Get up every day and face the same thing?  No treatment, no cure, and sometimes the feeling of hope dies, and that is a feeling of being broken into many tiny pieces.

Then the question comes, who will help you put it all back together? I find myself many days sitting alone wondering if anyone cares?  You hear silence, thinking in the back of your mind that maybe someone has to care as much as you. Waiting for a knight in shining armor to rescue you from the despair that overcomes you. Someone to help and maybe depend on them to carry your torch if you can't.

Funny thing about admitting these feelings is people judge you and question your ability to keep going on.  Hasn't everyone been there? The impression that no one cares as much as you.  I'm struggling to send the message about my cause getting others to see the bigger picture. Why can't they see? It is infuriating.  I ask myself why I keep on going doing what I do. I want to quit.  I want to stop and be free and let go. Would anyone care?

I can't do this life alone. I don't want to feel alone doing it. I find myself sometimes being trapped in a vortex of emptiness and loneliness because I can't get others to see what I see.  No, I can't control others perspectives or make them believe in my mission.  So what do I do?  I cry. I pray. I ask why and then keep going.  I have too.  I have no other choice but to keep going.

My son and the patients like him, their families are depending on me to keep going.  But then I think about mine.  I feel guilty when I leave, but then I love to travel.  I feel sad I quit a secure job with benefits, retirement, health insurance, but I risk it all because I knew in my heart what I was doing was the right thing to do.  I've heard that it was my choice to quit and I should expect to live a life of less because of the career choice I made.  People, even a couple of family have said that I am in this for fame and popularity.  I don't understand how this can make someone think this way.  I am not about that nor can believe why others would think that as I sacrifice my time, my own money, my family to find a treatment. For I know in the future will benefit millions.

Please mark my words.  The discoveries that will come to light will not only help our own but many others related to them.  One day people will see what I see.  One day people will be there to help. One day I will find the hope I have been searching for so hard and long for. One day we will have a treatment.

One day I will be free and no longer broken.

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.  

As Life Changes

Many things in my life have changed since quitting my job teaching of 23 years.  I really don't know how to explain what I am going through.  Anxiety, Direction, Searching, Security....  You want to scream to the world what is going on inside you, but you just can't get it out.  Only some of the closest few to you know the "inside" scoop of what you really are dealing with.  I laugh when I hear people say "The struggle is real!" because in your heart of hearts, you know it really is.  There are so many dynamics taking place around us and to use words to describe them is well....impossible.  You can't really explain your place to someone because they aren't there, they can only imagine. A state that is giving a sense of loneliness to the whole world you live in.  Even when you have thousands of people around you that are reaching out everyday.

I am pretty sure if someone were to film a documentary on my life.. it definitely wouldn't be a movie.. more like a series.  What many don't know is I have come along way in this life. Unfortunately, I still make mistakes and I do learn from them..hopefully faster now than before.

Going through my childhood, youth, young adulthood and now middle age I have been through some shit. Most likely everyone would be very surprised for those who really don't  know me.  I keep a pretty BIG smile on my face at times to cover up some of the true feelings I have.  I usually don't take much off people now, but somehow I still give my heart to people and things without even blinking an eye.  I guess that's me though. I have also taught my children the same thing, give your all until someone tries to steal it from you. Then protect it with all your might.  I am sad when people can't see your true worth and value in what you have to offer.  But I honestly have to say, that will never stop me from the goals or ambition I have to really change the world.

It's funny how life shapes you to be the person that you are.  I guess the process will continue throughout life until we take our last breath.  One thing I do want people to know, is that I never did the things I do for myself.  I really always have had others in mind and how I can help them.  I never was selfish in my actions. I don't care about money, fame, the cars people drive, the designer clothes people wear, the houses people live in or friends they have.  I want people to know it was how I helped those less fortunate and gave every last bit of energy to fight for those who couldn't themselves. That's what I hope people remember.

I had a little bit of an epiphone today and realized again for myself.. "no one can love you more than you loving yourself and one can not give love if there is no love of self. "  So.. Love yourself! Then everything else falls into place where it should.

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

I Can Change The World!

It's been quite a while since I have posted an update on Beckett. Since the start of the new year we have been full speed ahead.  Beckett has started a new medication which in addition to his Lamictal has helped him control his meltdowns and sensory overload.  He has been on Clonodine for the last 6 months.  It has been a life changer for us.  His meltdowns are minimal and his cognition has improved over time.  We still have the occasional tantrum, which is expected.  But this is nothing like from years before.  The hours of screaming are gone and it is much easier to redirect his behavior.  He is now at a daycare where the children and workers love on him.  I see him truly happy and there has not been an issue with him at his new after school care.  The foundation is taking off.  We are full speed ahead and are focusing on building our programs and planning a long lasting strategy that will sustain our mission.  My new motto has become #NEVERSTOPPING.. because until I am 6 feet under I am never stopping.  My hope grows stronger for these children every day.  The great scientists and clinicians who are walking by our side all the way are going to help us get there.  There is so much to say and do.. but to keep this short there is one picture that says a thousand words.  A picture that my Beckett brought home form school said it all.......

He has changed my world.......

What a Crazy Life!

It's been quite busy since the summer.  It has been really hard to just stop and take a breath.  School has started and I am in the thick of working the foundation.  Things have been amazing though. Life has just been lining up and all in God's timing.  I can honestly say that I have never quite felt so at peace and enjoy every minute of work I do to help further research and awareness. It is so true the old saying goes "You never work a day in your life, if you enjoy the work you do".  That is exactly how I feel.  I have an amazing group of supportive people surrounding me, encouraging me and walking every step of the way with me.  I couldn't do this without them, nor would I want to.   I am truly blessed by the people who have entered my life.  I don't think I ever knew what it meant to be fulfilled and all just by helping those who can't help themselves.  People are my passion! Yes, there are some people who are just plain jerks, but I guess life hasn't hit them in the face yet.  Typically, when life hits you real hard, you are given a choice.  Take notice and change to make it better or be a victim of your own circumstances.
Ok, I still get whacked around by life sometimes and they aren't so great, kinda like what happened a couple days ago.  Here's a quick back story on our Beckett.  We have had issues with him getting sick with strep numerous times. We are trying to balance out his medication and make sure his seizures are controlled. His hyperactivity was needing to be brought down a couple of notches. So the medication balancing act has been on going for the last few months.

Well.. We tried something different .. Umm.. Big mistake! I thought well.. Beckett has been doing ok so far in public places no meltdowns in quite sometime..to no avail!! I take him with his sister to watch the last part of her daddies football game. That lasted all but 5 minutes. Beckett decides he wants to go up the bleachers. Welp, this momma thought oh God!! I'm in trouble now! Sure nuff that boy in front of God and everyone pulled hair, screamed to to top of his lungs like I was killing him. Of course half the Stadium was filled with my parents and my students. You could hear a pin drop in the middle of each of his breaths to scream again. I was mortified for about one second and wanted to cry. But I didn't.. But our police officer who is on our campus came to us and calmly helped me with my child. He walked us to the car as he was screaming. He looked at me and said "it's ok momma" I looked at him and said this is why I will never stop looking to help my child lead a normal life. He said.. "I know.." And he smiled through all of the screaming. Then I got in my car and cried..I cried all the way home. This meltdown was nothing like I had seen in a while.  I finally got his medicine down him and bathed for bed.  Through all the screaming and crying, he finally laid down in my bed and fell asleep next to me.  I was alone at home and I had left Pyper with her dad.  The silence was golden. I very gently scooped him up, all 67 pounds of him.. (that's why I workout, that kids is heavy) and carried him upstairs to his bed.  When I came back down stairs I sat down and the tears just wouldn't stop.  I couldn't quit crying.  It felt good though just to weep.  I didn't feel sorry for myself.  I was just tired and scared.  Scared of what the future has for him and us.  A flood of anxiety came over me, but as fast as it came it left.  It was the hope that we (our SYNGAP families) are building something that will change peoples lives.  It is something I can't stop just because I am tired, so I thought.  I guess I had to give myself permission to rest and just not think about anything. I had to mentally and emotionally push a reset button.  I think that time to let go was what I needed to put things in perspective and remind me of why I am doing what I am doing.  It's to help better other lives, not just my own. That's hard being the naturally selfish people that we are.  Sometimes a good smack in the head keeps it level.  So here's to life and to one more day.  Bless those who bless others, that is what life is about.  

And Onto Another Specialist

Of course there is always something new popping up with our Bean.  At least we might have found out some answers to why he is constantly getting sick.  We took him to his first visit with an immunologist to see why he was getting strep all the time.  Well, the $3,500 worth of blood work came back from the eleven tubes of blood taken from our boy. 

Beckett's immunology reports  have peeked the interest of our immunologist. A couple of things that came up in his blood panel that were surprising.  Beckett seems to be on antibiotics all the time. His tests uncovered some interesting data in his blood samples. She found that his antibodies IgG and IgM are very low. His IgA was normal. She found that his numbers were low enough to watch over the next few months. A typical healthy child has anywhere from 700-800 levels, Beckett's are around the 500's when he is healthy. She said that if they go below 300 - 250 that she will recommend him having antibody infusions due to his immune system is not creating a high enough antibody count to fight off infection.  We would monitor his situation every 6 months. Also, his body did not create a high enough antibodies to tetanus. Which his other vaccines seemed to be adequate to fight off those other types of infections. She ask me if he scrapes and cuts took a long time to heal...which I never really thought about it..but it takes forever to have a wound heal fast. Anyway, I thought that this was an interesting find and I am going bring it up to the researchers to see if it could possibly be linked to SYNGAP.  She also recommended us take him to see and infectious disease doctor to rule out the possibility of him having PANDAS.  She said he exhibits all the criteria for PANDAS. That will be our next stop this fall.  We will be taking Beckett in November to have him skin pricked for all the allergies to penicillin.  That day should be fun...

I am glad it is summer time because Beckett is not sick as much during the summer.  Beckett has been progressing much faster than usual being on his Lamictal medication.   His expressive language has gotten much better and his annunciation of words has improved tremendously.  His cognitive abilities and behavior have also improved being on his new medication. Sometimes it scares me, because his problem solving skills are getting better, then on the other hand, he still doesn't understand the consequences of his choices.  I can only hope that comes in time.  

We are disappointed that he did not get to keep attending the regular day camp we planned for summer.  Not because of what he did, but because they would not offer him a "shadow" of sorts to keep him from wondering off and engaging him.  We now have him in an adaptive program where he gets a shadow with him and gets to play with children his own age.  So now, if he gets over stimulated because of the noise, she can take him to play in a quiet room to decompress some.  I love the program, it is just very expensive and will probably put us further into debt.  I do have to say, I would rather be in debt, than deprive him of the experience of being with others his own age and have friends.  

This boy LOVES Ranch Dressing!!

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/

The Power of Determination - A Mother's Love

I have learned over time that the only way to move forward and accomplish your goals is through the sheer will of determination and the recognizable path that God has place before us.  Obstacles get in the way of people everyday. How they over come them is not by chance, but by the will to push through with the determination, I believe God instills in us the willingness to be guided along that path.

Problems arise and they are tests that keep us on our toes.  They are put there to see if we have the trust in Him to keep moving forward while not knowing the outcome.  Faith and trust go hand in hand.  Things will work out knowing that what will be, will be and is not under any control of our own. That is the belief that drives me to accomplish the objective that is set before me and the peace within me that keeps my mind clear of the static around me. 

My vision is clear and the path I walk is full of things I stumble on and tread through with only the strength from the good Lord above.  People have been placed in this path to either help or hinder, and it is through discernment to make decisions for what is good for the purpose that I have been given.

I will do whatever I can to help complete the goals and mission of our new foundation.  My purpose is to lead and follow through with the plans of our set mission.  I will not stop and will not give up.  The children are too important and the families that endure the hardship of raising a child with special needs will not stop either.  That will, that determination is what keeps me going.  I want to make a difference in the world.  I want to help change the world and not for money, fame or notoriety.  I want to make a difference for the better of people because it is what we are suppose to do.   I do this for my son, I do this for my family and the families before and after me.  I do not do this for me.  The power of determination in me will accomplish the goals I have set to help those who can't help themselves.  I will not stop until I am dead and have gone from this Earth, but hope to leave a legacy of the power of one can turn into many to help others in need.  That is why we are here, our purpose.

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