Stonewall

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

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

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

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

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:)

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!!
 

Life Orchestrated

Life amazes me sometimes.  This is so true, that when you think your at the lowest point and there is no getting out, things just seem to go up and fall into place.  My faith makes me believe that life is an orchestra that just plays continuously until God is finished with you. I am hoping that I'm not done being used yet...I have just started..:)  Over the last few weeks I have watched my life take turns that I never thought would happen.  People, places and things have all been set.  I do believe without my faith, diligence, and tenacity that things will not happen as they should. Over the last few weeks I have been given the opportunity to share Beckett's story.  Global Genes and CNN I-Reports have both published his story on the Internet.
http://ireport.cnn.com/docs/DOC-1144791

http://globalgenes.org/mom-spreads-awareness-about-rare-syngap-1-gene-disorder-after-sons-diagnosis/

We have submitted his story to the United States House of Representatives, Energy and Commerce Committee to help pass legislation that will help the rare disease and rare chromosomal disorder community.  I have been asked to share Beckett's story to be published in the official Tribute To Champions 2014 Gala program with Global Genes Project.  The most exciting part of these past few weeks, besides everything else has been the published; is the new SYNGAP research that was done by Dr. Gavin Rumbaugh and his team of scientists at Scripps Labs.

http://www.cell.com/neuron/abstract/S0896-6273(14)00401-2

Our group of SYNGAP parents are also anticipating a new study to be released mid-summer by Dr. Jacques Michaud and Dr. Michael Parker about SYNGAP and epilepsy.

An exciting summer and still more to come.  Our small group of parents are also in the beginning stages of forming a non-profit foundation that will support research, awareness and small medical grants for families and caregivers of SYNGAP patients.  So stay tuned for new and exciting stuff!

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Beckett has just taken off developmentally.  In the last three weeks or so his language has increased and he his trying to repeat every one's words, I mean every word.  That's includes when he heard the word "ass" and repeated it exactly as he heard it.  And this time, it wasn't me saying it.  I do have to admit it was pretty funny stuff.  We had to get serious really fast and tell him "No, no, no!"  So now he shakes his finger at you and says that instead.  He is also asking for help, going to the potty by himself, asking for snacks when he is hungry by pointing.  For words he doesn't know yet he is coming to me taking my hand and takes me to what he wants or needs.

I was amazed the other night as we were putting the twins to bed and he was all tucked in.  I was looking for his chewy tube and couldn't find it.  I was stunned to see that he got out of bed, turned on the light, came back to the bed and found his chewy tube in the sheets.  He then put the chewy tube in his mouth, went back to turn out the light and crawled in bed.  I sat there with my mouth open in awe and I had to pick my jaw up off the floor when I left the bedroom. It came to me that this boy is problem solving...LIKE FOR REAL!!! 
I don't know if the combination of the medications are helping or if it is just him "growing up" a bit.  I might think it is a little of both.  I have always wondered if the Omega-3's he has been on since he was two years old has helped his brain development. The seizures being controlled has helped his cognition, while the Zoloft has decreased his sensory anxiety along with a significant decrease in his OCD tendencies.  I am very happy with his progress and I am hoping it continues as he gets older. I can't help to think that maybe we have stumbled on to something with the Omega 3's, but maybe time will tell.  Maybe I should mark my words and hypothesize that maybe the Omega 3's are protecting the cells in his brain from damage that the seizures cause.  It's a shot in the dark..but that's usually where science starts, in an "educated guess".

One of our many visits at Texas Children's Hospital
He loves Mini Moo!

Beckett's Kindergarten Year in Review - He's Happy

Just wanted to share a short video of Beckett and his sister Pyper's Kindergarten year.  This is Beckett's favorite song by Pharrell Williams - Happy

Hope you enjoy!

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. 

 



 

Past Memories - Beckett @ 7 months old

I realize that this is a long video, but we wanted to capture Beckett's behavior, facial expressions, motor movements and over all reaction to certain stimuli (the vacuum).  Please ignore the last couple minutes, my husband seemed to get creative and video me vacuuming the curtains...SMH!  LOL!  At this point in time Beckett could not sit up, crawl, had very uncoordinated movements, was very sensitive to sounds. As you can see in the video he suffered many months with acid reflux.  I knew at 4 months that something was wrong when he could not hold his head up, grasp toys, or sit up on his own.  He screamed during bath time.  We could bot figure out if it was the water temperature, being naked, or the feeling of the water itself.   He was a very happy baby for the most part.  As you can see his twin sister was functioning at normal age and hitting all her milestones.  I believe that Beckett being with his twin helped model behavior and help his imitation of play.  About 6 weeks after this video was made we had put him in physical therapy.

The video below is the first year Beckett was in the Early Childhood program in our public schools.  This is one of the moments I treasured and knew that he had an idea how to comprehend some things.  I was so excited.  He was 3 1/2 in this video.



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

EEG Results are in...

Beckett was just diagnosed yesterday with atypical absent seizures (borderline epileptic). Will be officially diagnosed when he has 2 full blown seizures. Technically he has an abnormal EEG. The doctor has said even though he has not had any real seizures yet, he is at a high risk for having them. He has 2 types of epileptic activity going on in his brain. He has what they call epileptic disturbances which are a pre-episode of a full blown seizure, they just don't reach full capacity of a seizure. These disturbances are what causes an interruption in his learning and can cause confusion and meltdowns. We are treating those with a new liquid sulfur based drug that is used for migraines.  I am hoping that the medication will help elevate some of the absent type seizures he is having and hoping that it will help him to be able to learn and improve his memory.  It just seems there is a never ending medical string of diagnoses for my baby boy. I am hoping that one day he gets relief from the endless confusion he experiences.   

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!!