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. 
 

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!

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

 

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!

A Different Perspective

Beckett and Daddy decorating Easter Eggs
Easter 2014

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

Written by Emily Perl Kingsley

 

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!

My Special Boy: So Proud of My Bean!!

My Special Boy: 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 thoug...

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.