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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Emotions Everywhere

We have had a lot going on in the Weldon house these past few months.  There have been days I have been on cloud nine and there are the days I wish I could run away from it all and never come back.  Granted I never would just pick up and leave, but I would be lying if I told you I never felt that way.  I guess I am going through a bit of a mid-life, not like the ones you hear of on TV or in a bar, but one where you look back at your life and wonder exactly what kind of purpose you have here on this Earth.  Mine? Well, I'm still trying to figure it out.  I really am dealing with the fact I guess I'm gonna get old one day. I will go out kicking and screaming just fighting age. I think about all that I deal with on a daily basis and how am I going to be able to keep up with my preschool twins and of course three older children, two of which are adults.  Beckett is obviously a handful. His twin Pyper, well she is a little spit-fire all her own.  Don't get me wrong, I love my children but they sure are hard work.  I find myself trying to keep in shape, trying to eat right, making sure I'm going to stay healthy for my kids that I end up getting sick and tired literally. Then on top of all that feeling guilty about it.  I know its crazy thinking but I think every mom goes through that at some point.  I am still trying to grasp my purpose..even though one is clearly being a mom and wife.  Sometimes you just want to do more in life...but is there more than that?  I'm not really sure, but I truely think there is. See, I even feel guilty for saying that I guess because I have always been about my kids and family in general. 

Mystro Please!!

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Well, I know it has been a while since I have had a chance to update my blog.  A lot has been happening in my personal life that has interfered with our normal routine.  I am now in a custody dispute with my ex husband over my 2 teenage boys.  It has been a challenge to try and keep on track with Beckett and deal with unplanned events that are happening around us.  Never the less, I must press on and give God the fight over to Him.  I have learned through the last couple of months to truly know what it means to be thankful in my circumstances.  I am allowed to have justified anger, but to know that God will see me through this and that He has a plan, which I learned AGAIN, that it is not always my plans he has for me. ;)  Keeping a smile on my face has been hard, but for the most part I am at peace and I know the truth will be shown for those involved.

Over the past couple of months Beckett has started school again and is now adjusting to a new routine.  He doesn't get a nap this year in the afternoon.  We are feeling the effects of this every evening when we get him home.  He tends to scream and kick until I can get him fed dinner.  We have been giving him a bath right after he eats.  He has been going to bed around 7 every night and sleeps until 6 in the morning.  I am hoping that he adjusts to his new routine soon. 

Besides the new routine adjustment, we have just gotten his new device called the Dynovox Mystro.  This full operational computer is going to be his link to communicating with the world.  I was so happy when we found out that our insurance company paid the full $9,000 for it.  This was an answered prayer that God could only do!!  I am blown away by all the things that he can do with it.  Beckett is catching on slowly, but I am sure that over time he will be able to communicate is basic needs in a few months.  He carries it with him everywhere. It even has his favorite restaurants programed in it with his favorite foods.  His frustration level will be incredibly lowered using this to tell people his needs. 

Beckett telling me he has a "Book"

 

In the meantime, we are still waiting for the results of our 3rd round of genetic testing to return.  We also got an answered prayer that the insurance company paid in full for the $15,000 test.  YES! That is correct..$15,000!! We thought we would be responsible for at least part of it at some point and were amazed again how God works when we just don't think He is going to have it in His plan.  GOD IS SOOOOO GOOD!

Round 3

Got some more huge news last week about my baby boy. Texas Children's Genetic Center called and they have approved him to be a part of a study for rare genetic syndromes!!! He will be taking the Whole Exome Sequencing Test. The best part is..they said insurance will pay 100% of the genetic test!!!!This ones about $6000 buck-a-roos!! So off to Texas Children's to this week for Beckett, Chris and I to give blood. Please pray they find the answer we have been looking for. We are also waiting to here if he will qualify for the Human Genome Rare Diseases Study in Maryland..maybe I'll get to see the East Coast if we get to go.

                                 Riding on his pawpa's tractor at his ranch in Madisonville, Texas

Beckett is making more milestones everyday.  He is almost fully potty trained.  He still forgets if we don't remind him.  But he is in big boy pants all day and a pull up at night.  He stays dry throughout the night!! YEA!! I huge step we have been working on since Christmas.  The daycare has recently moved him into the 3 year old room.  He is trying to make more sounds and is imitating behaviors of his peers.  We are beginning to watch him play more functionally with toys..especially cars.  We are still trucking on.  We are in the process of getting a Dyno V communication device.  Hoping that insurance will pay for it 100%.  The therapist seems to think he will do well learning how to use it.  This will make communication so much easier for him.  God truly answers prayer.  When you begin to give up He reveals Himself when you least expect it.  GOD IS SO GOOD!

My Medical Mystery

I am dumbfounded, I don't really know what to think or do now.  We got back our second round of genetic testing and Beckett's result were normal, ALL NORMAL!!  I am glad and I am shocked at the same time that the doctors found absolutly nothing in his genetic testing.  His microray came out normal, he has no signs of the three creatine disorders, and has no genetic irregularities of organic compounds and now I am at a loss.  The genetic doctors did say that they only find about 80% of the causes for global delays in these tests.  I was sure that they would find something, but they didn't.  This only means that we are headed to the next stage of testing.  This time we are going to try and get a x-nome test done.  This will search for very slight irregularities in the chormosomal DNA of the X chromosome.  This could possibly mean that he has a very rare genetic disorder.  This is scary because this means that the information on the types of syndromes is very limited.  My oldest daughter even said "maybe Beckett will be named after his rare disorder, if it doesn't have a name".  I told her I have mixed feelings about that.  I was hoping that it would be something well known so that we would know what the future could hold for our little boy.  On the other hand I would make it my mission to help any other child that was suffering from the same thing. 
Beckett has just recently celebrated his 4th birthday in May.  I have noticed he is getting more mature and is becoming more verbal than he ever has.  He tried to sound out the word "cake" to ask for a piece of his brother's birthday cake, I was so extatic that he said it. Just yesterday out of the blue he said "baby".  I was watching my nephew who was 14 months old and I told him to be nice to the baby, and he just said it clear as a bell.  I am not sure exaclty what is happening to Beckett, but I see accelerated progress with him.  He is actually beginning to go to the bathroom himself without being asked.  He still needs help, but he asks or pushes his button to go.  I do have to say I know God is answering our prayers.  I am coming to a point where I am accepting what I am being faced with and finding a piece with it.  I do admit sometimes days are hard, but it is getting better.  I am also trying to acccept that Beckett could just be "our little medical mystery" and might not ever find an answer.  Sometimes I do realize that that's also how God answers a prayer...He sometimes doesn't answer with what you are asking Him to do.  I am being taught something or He is growing my faith. Even though at times it is very hard and I really don't like it, I know he has my best interest at heart.
Jeremiah 29:11
For I know the plans that I have for you,’ declares the LORD, ‘plans for welfare and not for calamity to give you a future and a hope.

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.

Look Who's Watching

I am learning more and more each day how some people are either truly compassionate to a person's situation or they really don't care much about other people's lives at all.   I find that it probably runs 50/50 with the people I meet or run into.  I understand that people fear what they do not understand.  My goal and purpose has changed to not only raise a son who is independent and happy, but to help people understand that special needs individuals are also special gifts from God.

I find myself getting defensive about negative comments people make and the classic looks I get when I go into public when Beckett begins to scream and squeal so loudly it could break glass.  I find older people in their late 70's give me the worst looks, people in their 50 -60's make the rude comments, and people in their 30 - 40's for the most part say "Oh my, he's loud" and smile, and anyone younger seems to just ignore it.   I really don't mean to stereotype people. I can only judge what I have experienced.  I think for the most part it is a generational thing.  I think the younger generations are more exposed to the language used to describe autism and other intellectual disabilities.
I have been told to "control my child" and "you really need to discipline him for that".  It's almost comical that they don't even know he can't talk.  Usually my response is to say, "sorry, but he doesn't have any language and can't talk this is how he communicates".  Most of the time they turn bright red and walk away, while other times they look at me as if they don't care.  Sometimes they have even left the store altogether.  It's as I intruded on their world and how dare I even bring him into public.  Usually, it's because of their own ignorance and selfishness.  I have even been ask "how could I even bring a child like that into the world?" I have responded by telling them.."He is God's gift to me and I would have never even have thought of terminating him, giving him away, or even putting him away in a home somewhere".  He is created in God's image and is fearfully and wonderfully made.  I do have to admit, I usually don't respond to that nicely at all and respond in a defiant voice myself.  I defend my child and would stand up for him to anyone. Yes, I do realize I can't change anyone unless they want to be changed.  I do have to be careful about how I respond and think before I speak. I try to be an example of what God wants me to be and I will be the first to admit I am not perfect but will always try to remember that other's are watching.

Faith of a Mustard Seed

We have taken some time to be able to process some if the news about Beckett.  Our family has decided to go out on faith and trust God for the strength and funds to help take care of our little boy. I have been frustrated with the system put in place to help children and adults with special needs.  I am disappointed in the lack of funding that our nation has for these very needy individuals.  It is sad to see working people who want the best for their children struggle for every dime to get the needed care for their family members.  It seems that the richest nation on Earth can't find the necessary money to help people with minimal care. We are not talking the best of care, but the absolute bare minimum.
The decade of waiting is outrageous. The delay in critical developmental time is caustic for the brain to be able to make the best progress.  Without this time the chance for growth is slowed or lost. The burden is put on the public school system and it is already strained to its capacity. The average person who is working are punished for working. The ones who are well and able to work and don't, get the most from our financially stressed system.
My husband and I have gone out on a limb to try and get our son the care he needs.  Having to put our pride aside and ask people we know and even people we don't to help us get care for Beckett has been a humbling experience. We have set up a donation website to help raise funds to provide for his needed therapies, which include Occupational and Speech Therapy (recommended two times a week but he goes once) and the recommended Physical Therapy that we haven't started yet because we can't afford all the co-pays.  He also needs a special computer that will help him communicate and his SMO braces for his feet every 6 months.  We know that God will provide his needs and Beckett will be used for Gods Glory no matter the turn out.  I won't hide the fact that it is very hard for us to keep the faith, but we try to take it day by day.  We stand on the promise God made that He can move mountains with the faith of a mustard seed. (Matthew 17:20)  Some days I think that is all I have, but He still brings me through.

http://www.giveforward.com/beckettsstorymyswan

One of the Hardest Days Yet

I am skipping forward a bit through my walk with my boy Beckett.  Today was a day that I can't hold back from sharing my tears of sadness.  Today was a grueling day of testing for Beckett at Texas Children's Hospital.  He saw four different doctors that evaluated him for autism, psychology, developmental pediatrics and neurology.  After the 6-7 hours of testing we were told that they are taking the autism diagnosis away and re-diagnosing him with mild mental retardation. 

My heart sank to the floor..really it went below the floor.  I was being told that he would never be able to live independently or progress over the cognitive capacity of a 12 year old at best.  I was not expecting that at all.  It seemed that all the hopes and dreams I had for him vanished into thin air.  His dad and I couldn't hold back our tears.  It was a blast of information that I couldn't process in the hour we were getting all the feedback.  We were asked if we had a will to be able to appoint a legal guardian for him if we died, we were told he would possibly never be able to be left alone or take care of himself.  We got information on the process to enroll him in an adult program for the mentally disabled.  On top of all this information that he could have a genetic syndrome causing all of his problems. 

I am trying to tell myself that they are painting the worst of the worst of what it could be for his future.  I have told myself that only God knows the future for anyone of us.  I also know and am trying to believe that God can heal him and make is future as bright as my other children.  I have to believe and have faith in that.  Right now I have to honestly say may hope has been crushed and while I write this tears well up in my eyes.  My heart is crying out to the Lord to give me strength to endure this trail that has an uncertain path and believe that He will carry my husband and I through this.