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

It's a God Thing!

It's amazing how when you think your entire world will fall in on you, something happens to catch you right before you hit the ground. This last week has been up and down.  As I had shared last week I was excited that Beckett was able to go to summer camp. Not even 24 hours after posting in my blog my excitement I get that phone call I was hoping I wouldn't get.  They weren't sure they would be able to let him stay.  He was having accidents in his pants and the little girl who was shadowing him wasn't really prepared to change dirty underwear.  I cried all day and night just praying that God would allow something to work out so Chris and I could get a break.  We had gone in to talk to the director and she said to us she really wanted this to work. She told us they were going give it until Friday to decide whether or not he would be able to come back the next week. I figured that Beckett was nervous and had high anxiety that was literally "scaring the poop" out of him.  When we returned on Thursday the director had said she was able to switch the schedule around to allow one of her counselors who was a  "mom" take care of him.  I was so relieved that she did that for Beckett. So far, he has been back this week, still having a couple of accidents but we now have someone who isn't worried about cleaning up a mess.  Come to find out Ms. Dee has eight children of her own.  She said it doesn't bother her at all and she was glad to be able to help.  I was so ecstatic when I picked him up he didn't have one accident today!! I hope the rest of the week at camp goes the way today did.

Besides the good news of Beckett not having an accident today.  The best was yet to come. I got a call from my geneticist this afternoon. He shared with me that he had gotten an email from a researcher at Texas Children's Hospital asking him if he had any families with SYNGAP1. He said to me; "Monica, I had gotten your email and two days later I received an email out of the blue from a researcher here at Texas Children's wanting to know if I had any patients with SYNGAP1.  I was scratching my head and thinking to myself, that's really odd and the two emails were totally unrelated?"  He began to explain to me that they are about to begin a study on SYNGAP1 here in Houston at Texas Children's. They are looking for families wanting to participate that have children diagnosed with SYNGAP1. He ask me if I would have a problem with him giving me Beckett's information. Of course my response was ABSOLUTLEY NOT!! This is great news!!! I am so excited the this has gotten more attention in the scientific world!!! I  am so excited that they want to use Beckett in their study!!! WHOOP!  Before I ended my conversation with Dr. Scott he mentioned again how much of a coincidence it was to get two emails in less than two days totally unrelated about the same thing.  I told him that that's not a coincidence...that's a God thing!! He giggled over the phone and said, "you are probably right, I do believe that God allows things to happen like this."  I told him, "This was an answered prayer!"  He told me, "Yep..I believe in those too!" 

Time for Summer!

We started the summer this last weekend visiting Galveston Island State Park & Beach.  You could say that this was Beckett's first "real" beach trip.  The last time we had brought the twins, they were only 16 months old.  I don't really count that one since they really don't remember it.  He loved the ocean.  He walked right into the water and into the waves.  He would have floated away if his daddy wasn't right there with him.  He was so excited!  I don't think I have ever heard him laugh so hard every time a wave hit him.  He laughed constantly for almost two hours strait.  We had some of the most fun that day and more was on it's way!

Beckett's First "Real" Beach Trip 2013

This week Beckett has begun his first ever summer camp.  I am excited and worried at the same time.  This camp is not geared for special needs children. Mrs. Darlene the director of the camp has made it possible for my son to be able to participate with the kids his age.  I am happy to know that she has taken an interest in making my son apart of her program.  She has made accommodation's for him and to allow him to be with his twin sister for 6 weeks out of the summer. A young teenage student has been appointed a help the lead counselor with Beckett and to follow him in every activity planned, even in swimming.  Of course, my biggest fear is him swimming...he can't!  He has no concept of danger or fear.  I also worry about him wandering off unnoticed.  I know that they are aware of all his habits and won't let that happen.

So today is his second day.  I haven't had a phone call yet to come get him, so I am assuming he is fitting in just fine.  I am so thankful that the FAC director has seen a need to include the children in her program with special needs.  I wish more childcare facilities did a better job of mainstreaming special needs kids with others.  I believe it is not only good for the special needs child, but the child who has no disabilities to serve others who need it.  I am sure his experience this summer will help him continue to progress and develop his language and other skills and also maybe expose others to differences they are not use to. 


 

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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!

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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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!