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.

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.  

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