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.

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.

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/

And We're Off

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

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

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

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

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

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

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

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

 

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

 

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

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

 

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

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

 

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

 

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

 

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Update on Mr. Bean: 

 

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

Beckett is a pro

 https://www.simonsvipconnect.org/

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

 

 

 

 

 

 

 

 

 

It's a Marathon, Pace Yourself

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

Beckett and his twin Pyper at the Houston Zoo Lights 2014

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

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

Just Me

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

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

Beckett's 3rd EEG of 2014

Busy Busy Bee!!

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

 

 

 

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

 

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

 

 

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

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

An On Going Phase

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

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

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

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


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

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

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

HEAR MY CRY!!!

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

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

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

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

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

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

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

 

Please Help Us Raise Funds For Beckett

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

Thank you in advance for your support!

Tired...

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

 

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

So Proud of My Bean!!

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

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

Beckett Spelled His Name Out At School

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

 



 

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..

New Year - New Goals

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

Playing at the Park on the BIG slide!

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

Hiking along Cypress Creek

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

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


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



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

 

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.