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.

Broken

Have ever been broken? Almost like someone has taken you and ripped you into two, not even just two parts but into shreds? Your heart, mind, body and your spirit just cut into pieces all at once.  I am broken, tired, worn out and struggling to keep a smile on my face. Smiling through the tears. That's what it feels like to live and deal with a rare disease every.single.day!  How does one cope? Get up every day and face the same thing?  No treatment, no cure, and sometimes the feeling of hope dies, and that is a feeling of being broken into many tiny pieces.

Then the question comes, who will help you put it all back together? I find myself many days sitting alone wondering if anyone cares?  You hear silence, thinking in the back of your mind that maybe someone has to care as much as you. Waiting for a knight in shining armor to rescue you from the despair that overcomes you. Someone to help and maybe depend on them to carry your torch if you can't.

Funny thing about admitting these feelings is people judge you and question your ability to keep going on.  Hasn't everyone been there? The impression that no one cares as much as you.  I'm struggling to send the message about my cause getting others to see the bigger picture. Why can't they see? It is infuriating.  I ask myself why I keep on going doing what I do. I want to quit.  I want to stop and be free and let go. Would anyone care?

I can't do this life alone. I don't want to feel alone doing it. I find myself sometimes being trapped in a vortex of emptiness and loneliness because I can't get others to see what I see.  No, I can't control others perspectives or make them believe in my mission.  So what do I do?  I cry. I pray. I ask why and then keep going.  I have too.  I have no other choice but to keep going.

My son and the patients like him, their families are depending on me to keep going.  But then I think about mine.  I feel guilty when I leave, but then I love to travel.  I feel sad I quit a secure job with benefits, retirement, health insurance, but I risk it all because I knew in my heart what I was doing was the right thing to do.  I've heard that it was my choice to quit and I should expect to live a life of less because of the career choice I made.  People, even a couple of family have said that I am in this for fame and popularity.  I don't understand how this can make someone think this way.  I am not about that nor can believe why others would think that as I sacrifice my time, my own money, my family to find a treatment. For I know in the future will benefit millions.

Please mark my words.  The discoveries that will come to light will not only help our own but many others related to them.  One day people will see what I see.  One day people will be there to help. One day I will find the hope I have been searching for so hard and long for. One day we will have a treatment.

One day I will be free and no longer broken.

Flashback Beckett's Story

I know many special needs parents and caregivers can relate to this story.  It's been 4 years since I really sat down and thought about our journey; where we were and where we are now.  I just want to recap the beginning again for those who came in after the movie started ;)

Beckett's Story:

In November of 2012 we found out that my son Beckett has been diagnosed with a very rare autosomal dominant disorder called SYNGAP-1 gene (6p21.3). I didn’t know whether to cry or breathe a sigh of relief. He was the first to be diagnosed at Texas Children’s Hospital Genetics Clinic. Symptoms of this disorder vary in severity and include mild to severe intellectual disability, speech delay, a spectrum of epilepsies and has been linked to autism. Our son Beckett has been in multiple therapies that include OT, PT, speech therapy, play therapy and music therapy.

I knew that something was not right when Beckett was 4 months old. He was not sitting up or meeting the same milestones as his twin sister. I began my search for an answer beginning with my general practitioner, then adding 19 more specialists to the list since his birth. After many tests such as an MRI, EEG, Cat-scan, Microarray and metabolic tests at 2 years old we found out everything was “normal.” But we knew that it was everything but “normal.”

He was unable to walk, feed himself, babble or talk. We waited 14 months to get an appointment to have an evaluation at Texas Children’s Meyer Center for Autism. They concluded that our son was going to have intellectual disability and a severe speech delay, but still no real answers. The Meyer Center then referred us to Texas Children’s Genetics Clinic for Whole Exome DNA testing.  After a grueling thirteen week wait for the results, we finally got the answer to his problems. It took almost 4 years to get a diagnosis for our son.

I was in shock and knew that it would be an uphill battle.  Our genetics doctor only found one published paper on SYNGAP1.  I knew that there had to be more, but sadly there wasn't.  On the drive home from the clinic I cried and prayed for answers to why.  Thoughts of despair and helplessness overcame me.  It took me about 2 days to process the news, but I was determined this was not going to break me. I had no idea the challenges I would be facing taking care of a special needs child while raising four other typical children who needed my attention and a marriage that I was unsure would survive and that is an ongoing struggle to keep a balance.

After a past of abuse in my own personal life before I was married the second time, I was not going to allow myself to be a victim any longer to anything.  I gathered my thoughts and decided then that I would do everything in my power to help him. Finding answers for him and others was my purpose. I began to blog about his progress and wanted to try and raise awareness of SYNGAP1 and find others like him. 
When I posted our diagnosis on my son’s blog I began to reach people from all over the world who were like me.  I created an information page through Facebook that is strictly for research on SYNGAP1 and brain based research that is related to SYNGAP1. The first parent who found me helped me set up a closed Facebook group for parents looking for support and a place to talk about our children’s medical progress and challenges.

As the Whole Exome DNA test becomes more common we see our group growing worldwide. The network we have created in this group has brought several international doctors together to work on research to define our rare disease. We continue to drive research to help find a treatment that will help our children. We have since created a nonprofit for education and research for SYNGAP1. Our group has doubled in the last year.  We currently add newly identified patients worldwide on an average of one per week.  Though this journey over the last four years has been difficult, we have had triumphs and trials. I wouldn’t change for the world. I have learned more about myself and the love I have for people than I ever thought I would if I had not been placed in this situation. I am very grateful and appreciate life more than I ever have and am truely happy doing a job I love.  I will not stop, I will not give up.  #NEVERSTOPPING

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

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

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

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

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

 

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

 

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

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

 

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

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

 

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

 

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

 

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Update on Mr. Bean: 

 

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

Beckett is a pro

 https://www.simonsvipconnect.org/

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

 

 

 

 

 

 

 

 

 

It's a Marathon, Pace Yourself

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

Beckett and his twin Pyper at the Houston Zoo Lights 2014

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

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

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!

Back to the Drawing Board...Again, But This Time... Expecting Change!!

Well....back to the drawing board.  Seems like Beckett didn't do so well on his Intuniv for ADHD.  I am thinking that he's not ADHD after all.  He became violent and his personality changed as we continued his dose over a weeks period.  He became a wild animal.  Biting, scratching, kicking, and the continuous screaming for hours.  For an entire week we had him on the Intuniv taking his dose in the evening and caused him to wake up during the night several times also.  I don't remember sleep deprivation that bad since the twins were infants. I had to take a 1/2 a day off work just to get some rest that week. We still have him on the Vayarin, which seems to be doing well.  We have also upped his dose of time released melatonin to 2.5 mg before bed. This has been a life saver for us because now he sleeps through the night.  He sleeps anywhere from  9 -10 hours at night.

Of course, once we started to get him regulated off the Intuniv, he ends up getting strep throat, AGAIN!  My poor boy has had strep throat about five times since he had his tonsils out a little over a year ago.  He actually told me for the very first time his tummy hurt, saying he had to "poo-poo", then throwing up all over the bathroom. That boy was sick.  I was shocked that he communicated to me he didn't feel well.  I was also very happy that he took the initiative to do so.  I am thinking that children like him also have a lowered immune system that is affected by their chromosome mutation.  He has been so sick as a child and he seems to be allergic to everything, especially antibiotics. They put Beckett on one of the strongest antibiotics they make this time.  I am hoping it works and knocks out the strep. Now that he has been on antibiotics for about 8 days, he has gone back to that sweet, loving boy I know when he is well.  The only side note to that, is he tends to be stuck in his terrible 3's.  He still continuously screams when he doesn't get what he wants, it's just easier to distract him when he is feeling better.

Beckett Playing at the Park

In the next few weeks we will be having a 20 hour EEG to determine if he is having seizures.  I am very anxious for this, because I can't help to think that this might be causing some of his screaming fits and high anxiety.  Sometimes he tends to zone out and just stare, then other times he just loses it and screams when he is told no, and once he gets started it is hard to bring him down from it. 
I pray for more answers.

In the mean time, I have been trying to gather information for Dr. Michaud and putting together a type of Parent Driven Study to bring families and doctors together to help with furthering Dr. Michaud's work.  I am still praying that there will be help for these kids and that things will begin to fall in place to create some type of organization to help families like mine and also help scientists fund their research on SYNGAP. 

If you are a family of a child or an adult diagnosed with SYNGAP, please do not hesitate to contact me.   

I do, because you just do...

..yes..life is not always greener on the other side.  It's hard to remember that when you are feeling sorry for yourself and wishing it was different, how things could really be.  People ask me all the time, "how do you do it?"..you just do because you have to..you could to if you had to...

Please watch...I have to remind myself everyday not to wish for something different..because it could be the kind of different that you would never think.

https://www.facebook.com/photo.php?v=10200907170114838&set=vb.351443748204703&type=2&theater

 

NEW FACEBOOK PAGE: Parents and Families of People with SYNGAP1

I have created a new Facebook Page to connect and educate families around the world with SYNGAP1.

This disorder is also known as MRD5, RASA1, RASA5, SYNGAP.

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

You are not alone!!!

 

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I AM ON A MISSION!!!

Please pass this on to any families that you may know that would benefit from this information. I have some great news!! I spoke with Dr. Michaud last night about my son's Syndrome SYNGAP1. He has ask me to help him find families of children who have been identified. He is working on defining the condition to continue his research. He is the doctor who created the test for SYNGAP1. This syndrome has children who have characteristics of developmental delays, severe language delay and many other symptoms that are mistaken for other things. Autism Spectrum Disorder symptoms and possible seizures can be seen in some of these children, ...but not all. Mostly this syndrome causes Intellectual Disability. He has ask me to invite ...families who have this diagnosis to contact him to help him define conditions caused by SYNGAP1. He has told me that once they have an official definition has been made, research can continue to the next step of starting more ...
studies in humans, since they have mouse model data. Please share this with parents you may know who have autism or unexplained symptoms to push their doctors to get genetic testing. This is huge, because most people settle for the autism diagnosis and stop there and don't push for testing. The more people out there who are identified, the more money for research, then research for possible treatments can be done. So..needless to say...I'm on a MISSION now;)

Please watch the video on SYNGAP1
http://www.youtube.com/watch?v=6NE7FgFBO_o

 Jacques L. Michaud, MD
Head, Division of Medical Genetics, CHU Sainte-Justine
Professor of Pediatrics and Biochemistry, Université de Montréal

CHU Sainte-Justine Research Center
3175 Côte Sainte-Catherine
Montréal (Québec)
Canada H3T 1C5
Phone: 514-345-4931, ext: 6900
Fax: 514-345-4766

jacques.michaud@recherche-ste-justine.qc.ca

 

New Hope - New Friends

I have seen first hand how a person can go from one extreme to the other in about a week.  Life is strange sometimes. I feel bi-polar!  LOL!  I think I'm at a point where I don't think I'll ever get it, but just to go with the flow.  Sometimes the light at the end of the tunnel is so faint that you feel like your moving away from it and not to it.  It's amazing how life turns around just when you need it to.  You just hold on long enough for that to happen.  God knows exactly what to do and how to tell you it's going to be ok. 
In the past week I have had the opportunity to meet new people who are in the same boat as me.  I am so blessed that one found me though reading my blog.  I am so excited to be able to talk to someone who is going through some of the same feelings and emotions I am.  It has given me the determination to continue to have hope and push forward with whatever it is I am suppose to do....I'm still working on that one.  My new friend has introduced me to a new FB group of AWESOME people who have children that have Chromosome 6 Disorders.  https://www.facebook.com/#!/groups/chromosome6/
I really don't know what I would have done if I didn't have social media to be able to find people who are going through the similar things as I am. 

My Bean - Riding His Belle At Therapy

I also found a new hope in sharing my information on SYNGAP 1 with a person who works in a large pharmaceutical company.  She has told me to appeal to gene therapy companies to peak their interest in doing research on treating the functional gene with micro molecules.  I'm not really sure what that is, but it's worth a try.  So I now have a new goal to work on.  My energy is slowly coming back and my hope in a new day is keeping me going.  Only by the strength of the Lord can I do this!

Possible Treatment for SYNGAP 1 Gene

I have come across an article published December 10, 2012 that talks about the possible treatment for my sons disability.  I am praying that they will find one soon before the window closes on him.  Pray for a cure!  Read the article and pass it along to your friends you know that has a child with special needs or autism.  It could be a medical break through. 
http://sfari.org/news-and-opinion/news/2012/autism-linked-protein-sets-pace-for-brain-development








_My%20Boy%20Beckett_0004d1a5364c07060aec55945b000393&LNM=Merry%20Christmas!%20Spend%20%2475%2C%20Get%20a%20%2410%20Target%20Card%20with%20Promo%20Code%20XMASGIFT%20-%2012%2F25%20Only!

RESULTS ARE IN!!! SYNGAP-1 gene

I am sad and glad at the same time. Today we found out that my son Beckett has been diagnosed with a very rare autosomal dominant disorder called SYNGAP-1 gene. It doesn't even have a name yet. I am hoping to find out more information on it, but there is not much out there in terms of a prognosis.  I don't know whether to cry or breath a sigh of relief.  Texas Children's Genetic Center called this afternoon and told us that Beckett had a very rare genetic disorder that is so new that they even don't know much about it.  They have only just recently identified one more child with the same syndrome in February. We are relieved to find out that it will not affect his twin or his other 1/2 brothers and sister.  Neither Chris or I have the gene defect and the genetic counselor has explained that it was a fluke in nature.  They do not know whether it was caused by the environment or if something just when wrong after fertilization.  Of course, we might not ever know what caused it.   They explained to me that there could be more out there but the test is only a year old and very expensive to run.  Some of the symptoms of this disorder are seizures, schizophrenia, moderate to severe mental retardation, speech delay, and autism type behaviors.  The doctors at Texas Children's have worked us into an appointment on January 7th to see Beckett and talk with us about what they do know and how to move forward with his treatment.  I am now seeking a new direction and feel that I must do something to further the research of how to help he children and families with this disorder. 

I do however, must mention that even though the news I have received today about Beckett, I am grateful that I have him to hold and hug.  Today was a horrible day in our country and I will pray for those who lost loved ones in Connecticut in the school shooting.  My heart is heavy and broken for all those affected.  I realized today that even though I have trails of my own, I am very thankful that I have my children with me today.  I was also reminded that through bad times, God truely will make good for His glory, even if we can't see it now through the hurt.  GOD BLESS THOSE BABIES AND TEACHERS WHO DIED TODAY!! They are in the ARMS OF JESUS NOW!!

Trying To Hang On To Hope....

Considering all the trails that our family has had to face in the last several months, keeping up with my blog as been hard.  We have had many changes in the last six weeks for Beckett.  He will begin Monday with a new daycare sitter.  We have had to move him from his regular daycare he has been at since he was 3 months old due to the change of some of his class situation, therapy and school schedules.  We were not happy with the new teacher arrangement in his class at his daycare.  They seemed to be too young to be able to deal with the needs that Beckett has.  We were very disappointed that this was not fixed or changed for us, considering we were paying for a full time program when he was only in there part time. I do however have to clarify that most of the workers there were great with him.  They were typically older women and not teenagers or college students caring for him.  We now will have him with a lady who will keep him in her home, but she is also one who has a special needs child herself.  We are nervous somewhat, but praying for the best and hoping that she can deal with his needs.

We have had some regression with his potty training due to the fact that the girls in the daycare were not paying attention to checking on him to go use the potty.  He has a hard time remembering he needs to go and needs some reminders every hour or so.  He has started trying to say a few more words and sounds which is encouraging.  We still are trying to teach him the dynovox, but at home he seems uninterested in using it.  He has mastered several icons for needs and food on it with his speech therapist.  We know he can use it, we just need him to understand using it for his needs. 
Texas Children's Genetic Center still has not called us with the results of his EXNOME DNA Sequencing Test.  I have been patiently waiting for some kind of answer.  We are also trying to get Beckett into see a psychiatrist to have him evaluated for a behavior problem that is causing his melt downs.  We are hoping that they will give him something for his OCD/High Anxiety Behavior.  His fits seem to be getting worse has he gets into the stage of the terrible 2-3's that his little brain is entering, even though he is 4 years old.  We have noticed over the last few months he is more interested in toys and musical instrument's that seem to keep him entertained.  We are hoping the we will get to implement music therapy in his daily routine in the PPCD program at school.  We are seeing slow progress with him..I just still have anxiety over what the future holds.  I pray almost everyday that God would heal my little boy...I have to admit that it has been hard to hold on to hope, but I know there HAS to be a PLAN..

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Potty Training & etc...

I have no idea even where to begin.  Do I start with how we are going with potty training or do I start with the transition time from daycare to the house during the afternoon?  Umm....well these two particular events have been the hardest thing I have ever had to do in my life. I actually thought that teaching middle school was much harder.  Boy, was I totally wrong!!
Potty training with Beckett has been quite difficult.  Getting him to tell us he needs to go is the hardest part. We have a digital voice box that has a button he pushes that his PPCD teacher has recorded the message, "I need to potty".  When we first put it up I think he pushed the thing 200 times.  Of course, this helps us know when he needs to go; if he'd use it the right way. We began to bring him every 30 minutes when we can.  Beckett can control himself for the most part, but its getting him to try and complete all the steps that's hard.  Due to his lack of motor coordination, he has a very hard time pulling his shorts and pull-ups up and down.  He knows to do all the steps, which is the frustrating part for me also.  Since summer has begun Beckett has gotten better about having fewer accidents and letting us know he needs to go. I finally got around to getting a second voice recorder to the daycare.  Within one day he learned to let his teachers know he needed to go potty by pushing the button.  Funny thing is all other 19 children in his class did the same thing. I warned his teachers of the "new novelty".
I know he still has trouble coordinating his motor skills to master all the steps to go potty.  I never really thought about the process of something very simple to the average person as being a really difficult one when you think about it. So far, it's been a week and he has had only one accident.  Hopefully by the end of summer he will be able to let everyone know when he needs to go.

The Waiting Game

Trying to get answers to why Beckett has problems has found me searching every nick and cranny for answers. It is going to take a long time. It is very hard to accept there could possibly be no answer to what happened and how to fix it.  I struggle with that reality on a daily basis.  As long as I am able and willing to find an answer, I will not stop until I do.  I am not really a "conspiracy theorist", but sometimes I do believe the people that are in the elitist part of our society tend to know more than they let on about health issues.  I do think that sometimes information is only revealed in circumstances that ones closest to the research have some kind of conscious and end up letting the "cat out of the bag" and "taking one for the team".  Almost like the cigarette industry came out with research saying that cigarettes caused lung cancer.  I am learning more and more everyday that our health system and the way things are run by our insurance companies are strictly politically driven.  It can be very frustrating at times to think that a persons life is put second to money and political gain.

Beckett's ECI graduation 4 days before he started PPCD at Ault Elementary

 I have vowed to fight to the end for my son and any other child who has had to encounter the system who doesn't care about their well being and to fight for a cure for mental disabilities, autism, and other neurological disabilities that keep a person from living a life that is normal.  It is exhausting to deal with a child that has disabilities and finding respite to have a somewhat normal existence.
However, the tiny gains that Beckett makes become huge celebrations.  He began his new PPCD class 2 days after his 3rd birthday.  I will never forget the day that he came home from his new PPCD class an could suck through a straw!! Sounds crazy, but Mrs. Julie got him to drink through a straw in almost 2 weeks of being in his new class.  I was actually worried that he wouldn't do much of anything in his new class since the school year ended in 3 1/2 weeks from when he started.  I was so wrong..Other concerns were about his bus ride to the school from the daycare and overall cooperation with the teachers.  He learned a routine in a fairly short time and began to make more sounds. His teacher sent us a video of his progress. He was making sounds he learned while in class the short time he was there before summer started.  I cried!  I do believe that God sent a pair of teachers to take care of him and help teach Beckett.  They have also helped us to deal with Beckett's disabilities.  I knew that the new school year would be a huge benefit for him and was excited about the new things he would learn in the Fall.

Slow Moving Stream

We noticed that when Beckett would begin to make gains and advance a little, other characteristics would pop out in his personality. His tantrums became unbearable at times. Every time the front door opened and the chime went off, he raced to the door as fast as he could to go out. When he was about 30 months, we noticed that he became fascinated with water. This was a soothing activity for him.  His focus was scattered and when we could get his attention, it was only about 2 -3 minutes at a time.  I knew this was going to interfere with his learning. 

Our Little Water Boy

We were about 6 months away from enrolling him in our PPCD (Preschool Programs for Children with Disablilities) program at our local elementary school.  I was anxious to get him in so that he could have more regular and consistant intervention.  It was also feeling relief because the PPCD teacher was the wife of a coach my husband worked with.  But not only that, I had gotten feedback from other parents and employees that knew her and they said she was one of the best teachers in that position.  I knew she was going to take care of our boy.  In the meantime, we were waiting and preparing for his transition and were getting a better idea of how his progress should be moving. 

His therapist from ECI would tell us that development came in a particular order.  He would have to master his motor skills, both gross and fine before spoken language could be mastered.  He had a long way to go.  We were still trying to get him to eat with a utensil, hold an open cup to drink from and suck threw a straw.  He was able to walk upstairs, but not down yet and unable to jump.  It was heart breaking to watch him trying to jump. We knew he wanted to and just couldn't get his feet of the ground.  It was going to be a slow road a go. 

The funny thing is about his personality was all said in his name.  I had a hard time trying to find out what his name actually meant when he was a baby.  I ordered a Birthday Keepsake that had the information about his birthday day and it included the meaning of his name.  My husband and I weren't suprized to read that his first name means "Slow Moving Stream".  He was definaltly like a slow moving stream.  The one thing I think about a slow moving stream is that they start out slow  and as they move along their path then the end becomes a roaring wide river.  I know that Beckett will one day overcome his obsticles and become a strong determined individual that has many gifts to offer this world.  That is my prayer for him and I know that God will be faithful to answer it.

Family Impact

I guess no one ever really thinks that they will be blessed with a child with special needs. I do know that my son is a blessing to our family.  I feel like I am being refined for something, I just don't know for what yet.  I know that in time it will be unveiled and it will change my life for the better.  I do however, sometimes wonder why the "refining" has to be so hard. 

My family has had to learn and adapt to new routines and changing the way they do things for and around Beckett.  Him being a twin was hard because when we would do something for him, we also found ourselves doing the same for his twin, Pyper. I know she knows that he needs the extra help, but I still try an give her that little extra when I can. I feel guilty at times when I have to spend more one-on-one with Beckett and had to make Pyper wait.  Her need for attention is also very high. I guess every toddler craves every bit of attention from their parents.

Big Brother Sawyer Entertaining the Twins

We also ask a lot of our older children.  They help us out tremendously around the house.  Ok..in reality, they do sometimes have to be coerced to help.  On days we would come in from work we would have one of our teenage boys play with Pyper, while my husband or I would bring Beckett aside to work on sounds, making signs, or putting together puzzles.  At the same time, one of us would be cooking dinner for seven people. My other teenage boy would help me with chores and my oldest daughter helped when she could.  She was is at home going to college, working almost a full time job.  She would do house cleaning on days she was out of school or wasn't working early. 

Autopilot is common place in my life.  My five children keep me very busy. Four are usually in extracurricular activities. They have me running around to football games, practice, and therapy. It is all exhausting, but rewarding to see their successes.  I know that God has given me the strength to endure. Without my wonderful family I don't know how I would do it.  A friend of mine told me once that, "Children pick their mommies".. I know and believe that is to be true.  It sometimes is still day by day, but I know that there are going to be many blessings later and my hope still never fades for my special boy.

A Year To Remember

I think the year Beckett turned two was probably the most stressful since we learned of his milestone delays.  We had no idea that the financial burden of therapy, doctors visits and prosthetics would have on our family.  Our pediatrician referred Beckett to the Blue Bird Clinic at Texas Children's Hospital to see another pediatric neurologist.  The doctor called and expedited an appointment for us.  Instead of the six month to nine month wait he got us an appointment for about 3 months out.  In the meantime, we kept chugging along, going to therapy and working with him at home.  He was making very little progress and it seemed that new things were coming at a snails pace.   At times I found myself crying myself to sleep, praying to God that He would heal my little boy.  Some nights I would get maybe 3 - 4 hours of sleep and going to work the next day running on "fumes". The emotional toll was also showing at home and at work. I needed answers! I couldn't wait to get into an appointment to see a doctor who could tell us what to expect an where to go from here. 

After a wait that seemed like forever, we finally got into see a doctor at the Blue Bird Clinic.  It was a relief just to be in the waiting room.  But that feeling would soon fade into worry and more anxiety.  I showed up with my husband, Beckett and Pyper his twin in tow. We then waited in the exam room with two chairs, a patient table and a computer. Trying to keep 2 years old twins occupied for 30 minutes was a challenge in itself.  FINALLY!! A knock at the door!! She peeked in and introduced herself.  Low and behold she wasn't a doctor, she was a Physician's Assistant. Don't get me wrong, I was glad we were in, but disappointed the it wasn't the "neurologist".

 I guess it's selfish and I should be grateful but the frustration of everything had gotten to me.  After the introductions we continued to share our concerns with her.  She was taking details notes and making observations of Beckett while he was fussing to get out of there.  The level anxiety rose as she began to explain that she was going to recommend genetic testing and an MRI under sedation.  Several of the genetic tests she recommended to have done were rare disorders that either caused a child to have a fatal consequences and or one that would cause him to be needing round the clock care for the rest of his life.  Even though she reiterated that these tests were to rule them out, there was no guarantee that he would not have one.  Some of his symptoms were part of these disorders and the question was there that needed to be answered.  The one genetic test I fear most was the Rhett's test.  This genetic disorder caused boys who had this fatal disease, even mildly only lived a life span of 10 years old.  I couldn't imagine my boys mid-life at 5 years old.  The other tests that she had ordered was Fragile -X, along with about 129 genetic metabolic disorders and a chromosomal karyotype.  My husband and I cringed at the thought of how much all these tests were going to run and "go figure" if insurance would ever pay for them. 

We had to wait almost 3 torturous months for the genetic results to come back.  During this time I spent hours upon hours doing research on the Internet.  I was looking for answers that never seemed to come. I would cry at school and cry at home praying for the tests to be normal. We were still waiting to get a MRI.  Beckett was continuously sick with a cold or ear infection.  After about 3 tries to get him to Texas Children's for an MRI, we got him in.  I hated that day too.  He had to be put under anesthesia for an MRI to get a conclusive view of his brain.  I almost passed out when they gave him the drugs that put him under.  My husband was holding him while they administered the drugs.  He fell limp.  I hated watching that.  I had a sick feeling in my stomach watching him be carried away. It was a successful scan and they told us the results would be read in about 3 days. Again the 3 longest days I had in a long time. 

That day finally came, the moment of truth!  We had the results of the genetic testing and the MRI. The PA called us with the results.  She said all the genetics tests were all NORMAL!! I felt my chest fall in relief. She had the neurologist look over his records and some of the best news of hope I had had in a long time.  He said that there was a discrepancy in his MRI. He explained that the myelin, or white matter in his brain was at 50%.  A typical 24 month old has approximately 90%.  Myelin is basically the plastic covering that insulates an electrical wire. This disorder made it difficult for him to make connections.  My heart then fell again. The emotional roller coaster is exhausting, you never know how or what to feel.  The hope then returned when the doctor said that he believed with massive amounts of therapy and lots of patience, he thought that there would be an 85% chance that he would be fully functional by the time he reached the age of  6 or 7.  I bank and pray on that hope everyday.  This is something I haven't forgotten and hoping that this time the doctor's right.  Of course we will see, because there are changes everyday, both good and bad.

Year 2: Future Unknown

The second year of Beckett's life was full of uncertainty. He was now in therapy through ECI (Early Childhood Intervention) and making small steps to improvement with his motor skills. He began walking with a walker that helped him develop his lower body muscles. His therapist was an ex-marine and her demeanor and motivation techniques did wonders with him. He is a stubborn, bull headed little boy and a bit spoiled.  Sometimes I thought she was too tough, but I understand now that was necessary to set an expectation for him to meet.  Just because he was slow, didn't mean he couldn't learn.  Repetitive commands and hand over hand help made him see he could do on his own. 

Besides our concerns of his motor development came concerns of his cognitive development.  He had and occupational therapist and a play therapist that came to work with him on a weekly basis.  They taught him to hold a cup, turn pages of a book, use a crayon and many different type tasks. A normal toddler typically would just pick up by just watching someone or shown how to use these things with ease.  Beckett was not interested in toys or even watching cartoons on television. Most of the time he wondered aimlessly around.  Almost seemed like he was in his own world, investigating what was around him.  I almost thought he was on a different level than some typical children. At least that is what my "gut" said to me.  My husband and I became very concerned about his ability to learn.  Processing a task took him a long time, not just minutes, but days and days of repetitive working at it.  I found my self saying words to him hundreds of times a day.  I think I dreamed about "more", "juice", "milk", "eat", for months. I felt helpless sometimes when he was not getting it.  I just wanted to quit.  I guess God knew what he was doing, because just when I wanted to give up, relief came when he would make sign or say a sound that was close to the word.  He probably only had about 5 words he signed or sounded during his first two years of life.  His frustration level was incredibly high and I felt so helpless.  I was doing all I could and some days I was just spinning my wheels.

I began doing research online and talking to doctors about his condition.  Of course no one had any definite answers.   I struggled with the thoughts of him not ever being a productive independent person in our society.  I worried about who would take care of him if something would happen to me or my husband.  I ask questions like,"Would my older children have to help him if I'm gone? & Would my extended family be able to help provide the therapy he needed if I wasn't here?" I had to let go of those thoughts and believe that God had a plan and I am included in that plan to take care of him. I struggled with depression all the time.  But somehow, someway it was short lived, because Beckett would do something new that would make the hope return and it was going to be ok.

I will never forget an afternoon that gave me much needed hope and a new faith that God does listen to prayer and answers it.  I went to pick up the twins from the daycare, I saw Beckett sitting looking outside the glass door that led to the play ground.  He turned and saw me walk in and smiled a big smile like he usually does.  His teacher and I were not expecting what came next.  He pulled up on the door handle and took a step, not just one but he kept walking all the way across the room to me.  I dropped to my knees crying. I grabbed him and hugged him.  I could not believe that my little boy was walking.  His teacher, Ms. Claudia also broke down and cried. She was also a part of the many people helping him over come his obstacles. The excitement spread through out the building and all of his former teachers came to see him walk.  I was relieved that he was progressing. I knew that after I was praying for months for him to walk that God answered one of my many prayers for him. He walked at 22 months, exactly two months before his 2nd birthday. It was a joy I will never forget. These are the moments that keep me going when I fall into a "rut" of despair.