And Onto Another Specialist

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

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

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

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

This boy LOVES Ranch Dressing!!

FIRST EVER..COMBINED INFORMATION PAPER ON SYNGAP1

I never dreamed that today would come. For the first time in my life I had a dream and it came into reality.  I never thought I had it in me to see anything this "BIG" through because the fear of failure.  Today, I proved to myself that if I just keep going and continue to try and never give up, that good things will start to happen.  Just yesterday I was saying how I wanted to quit and run away. But I chose to stay and continue on through all the feelings of frustration.

My Baby Boy before he started walking...

I thought about my son when he was learning to walk. Pushing a walker and being forced to take every step, because if he didn't he would have never learned to walk.  I thought of how hard that must have been.  How hard it was for him to put one foot in front of the other. Having no motor control and working hand over hand with him to "feel" his legs move.  He never gave up and in the end and he walked!  That meant I can never give up.  I have to keep going no matter how hard things get. No matter how many tears I cry, no matter how mad I get, I just can't stop.  It's my family, it's my children and my SYNGAP family that keep me going.

To think that an email I sent 3 years ago to a researcher I thought would never be heard, was heard.  It started a domino effect.  To think if I never sent that email where would we be now?  I know for sure that I would never be where I am now if I let fear prevent me from reaching out to find help and to find someone that would listen. 

Today was a great day for SYNGAP awareness.  Dr. Jacques Michaud and Dr. Gavin Rumbaugh combined efforts and created a collective summary on SYNGAP1 mutations.  NORD (National Organization for Rare Disease) has published our paper in their database.  This is the first time SYNGAP1 has been published as a collective summary.  This is just the beginning for us as a foundation.  This puts SYNGAP in the hands of people trying to find answers and hope. 

I have to be honest, when I saw it pop on the website, I cried like a baby.  I felt an overwhelming weight off my shoulders.  It was a feeling of relief knowing that when people go searching they have a chance at finding an answer to what they are looking for.  It's a hope for them to know that they're people out there trying to help.  That makes me feel good to know that someone will find help.  I have learned that if "it" wasn't there for you, then be "it" for someone else.  I hope that I can do that for those who need "it".  Since this is just the beginning, I am so excited to see what more we can do together.  The future is bright and I believe we can be the light for others who are searching to get out of the dark. 

Check out our paper and share!  http://rarediseases.org/rare-diseases/syngap1-related-nsid/

The Power of Determination - A Mother's Love

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

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

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

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

Houston-area teacher shares personal story to increase autism aw - FOX 26 News | MyFoxHouston

Houston-area teacher shares personal story to increase autism aw - FOX 26 News | MyFoxHouston

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. 

 

_______________________________________________________________

 

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.