Hidden Pain and True Intentions

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

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

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

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

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

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

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

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

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

The 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.

     

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.

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.  

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

A Different Perspective

Beckett and Daddy decorating Easter Eggs
Easter 2014

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

Written by Emily Perl Kingsley

 

So Proud of My Bean!!

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

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

Beckett Spelled His Name Out At School

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

 



 

JEANS FOR GENES!!! Wear jeans on Feb 28 to show your support for RARE GENES DAY!

Share for Rare! Jeans for Genes....Wear jeans Feb 28 to show you care! I love my son Beckett who has a rare genetic neurological disorder called SYNGAP1..

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.   

Back to the Drawing Board...Again, But This Time... Expecting Change!!

Well....back to the drawing board.  Seems like Beckett didn't do so well on his Intuniv for ADHD.  I am thinking that he's not ADHD after all.  He became violent and his personality changed as we continued his dose over a weeks period.  He became a wild animal.  Biting, scratching, kicking, and the continuous screaming for hours.  For an entire week we had him on the Intuniv taking his dose in the evening and caused him to wake up during the night several times also.  I don't remember sleep deprivation that bad since the twins were infants. I had to take a 1/2 a day off work just to get some rest that week. We still have him on the Vayarin, which seems to be doing well.  We have also upped his dose of time released melatonin to 2.5 mg before bed. This has been a life saver for us because now he sleeps through the night.  He sleeps anywhere from  9 -10 hours at night.

Of course, once we started to get him regulated off the Intuniv, he ends up getting strep throat, AGAIN!  My poor boy has had strep throat about five times since he had his tonsils out a little over a year ago.  He actually told me for the very first time his tummy hurt, saying he had to "poo-poo", then throwing up all over the bathroom. That boy was sick.  I was shocked that he communicated to me he didn't feel well.  I was also very happy that he took the initiative to do so.  I am thinking that children like him also have a lowered immune system that is affected by their chromosome mutation.  He has been so sick as a child and he seems to be allergic to everything, especially antibiotics. They put Beckett on one of the strongest antibiotics they make this time.  I am hoping it works and knocks out the strep. Now that he has been on antibiotics for about 8 days, he has gone back to that sweet, loving boy I know when he is well.  The only side note to that, is he tends to be stuck in his terrible 3's.  He still continuously screams when he doesn't get what he wants, it's just easier to distract him when he is feeling better.

Beckett Playing at the Park

In the next few weeks we will be having a 20 hour EEG to determine if he is having seizures.  I am very anxious for this, because I can't help to think that this might be causing some of his screaming fits and high anxiety.  Sometimes he tends to zone out and just stare, then other times he just loses it and screams when he is told no, and once he gets started it is hard to bring him down from it. 
I pray for more answers.

In the mean time, I have been trying to gather information for Dr. Michaud and putting together a type of Parent Driven Study to bring families and doctors together to help with furthering Dr. Michaud's work.  I am still praying that there will be help for these kids and that things will begin to fall in place to create some type of organization to help families like mine and also help scientists fund their research on SYNGAP. 

If you are a family of a child or an adult diagnosed with SYNGAP, please do not hesitate to contact me.