Two years

Today marks two years since Jay and I sat in a cold Doctors office at the hospital and had our hearts shatter. Our world crumbled at our feet, we couldn’t breathe, we couldn’t even speak.  The Doctors gave us the diagnosis and left the room and allowed us be alone.  When they came back, they handed us two pieces of paper,  one with the dignosis and one with BDSRA.org information. The only thing they said to us was that they were sorry, there was no cure and that it was fatal. “Take him home and make as many memories as you can.”  As parents we should not have to be living moment to moment,  but in reality shouldn’t we all be?  It is hard to reconcile it my mind that we should make wonderful memories all the time while knowing he will pass away before us. 

This is whag I wrote two years ago and is about all I can say for now.  It is a long read, but gives more information than I can give today.

Nathan was born a very healthy baby.  He met his milestones on time, he was a very happy, easy baby.  Nothing was off, I never thought anything was different.  It wasn’t until Kindergarten where things started to seem off to me.  Behaviorally, he was very challenging.  He seemed more “strong willed” than the other boys in his class.  But as his Mom, I just felt like something was not right.  I took him to his pediatrician to express my concerns.  She just told us that this was normal behavior for a boy and he would grow out of it.  Still, I felt that we were missing something.  I took him to Behavioral Specialists.  I took him to some of the best Doctors at Children’s Hospital.  It felt like they all dismissed my concerns.  But still, something nagged at me that something wasn’t right.  I thought that Nathan might have Autism.  I took him to his Pediatrician again to express my concerns and she pointed and him and said” That child does not have Autism.”

Nathan started having trouble with his eyes in Kindergarten in 2009.  It was picked up in a school screening.  We took him to the eye Doctor and he was prescribed glasses.  Again, I didn’t feel that the prescription was correct.  He was still having a hard time. We took him to another eye Doctor who wrote a different prescription that again didn’t feel right.  We finally got on board witht the Chief Opthomologist at Children’s Hospital, who started to perform more tests.  He came back with a diagnosis of Optic Atrophy.  His vision went from 20/40 to 20/800 in a matter of months.  It was not long after that diagnosis that Nathan was considered light perceptive only.  Our son had lost his ability to see.  This broke our hearts in a way that words cannot describe.

In July of 2012, Nathan was admitted to the Nueropsych facility of Children’s Hospital for evaluation.  They wanted to take him off all his medications in a safe environment and see what they could do to help him.  They performed the ADOS test which confirmed that Nathan did have Autism.  They changed his medications and we were sent home and went about life.

We now were dealing with two diagnosis, Autism and blindness.  We felt like we could deal with Autism.  But to be hit with your child not being able to see was doubly devastating.  This is a little boy who use to play soccer and was good at it.  He played basketball and loved it and now he was no longer able to to those things.  It broke my husbands heart.  He didn’t have a little boy to play catch with or go play golf with.  That was something that every father deserves to be able to do with his son and now Jay couldn’t.  They were both robbed of that opportunity.  My heart aches for both of them that they missed out on that.  My daughter does not have a brother that can play with her in the same way that she sees her friends play with her siblings.  That breaks my heart for her.  My son can’t see me when I talk to him and that breaks my heart for me.

We have been going through rigorous DNA testing with Nathan for three years.  It has been such a long process full of blood draws, sking biopsys, MRI’s, EEG’s, and numerous misdiagnosises and taken us in so many directions that at times I didn’t know which way was up.  In December of 2014, Children’s Hospital in Denver did a full exome panel to see if they could find out what was happening with Nathan.  He was regressing in areas that were concerning.  This was the last test that they could perform to see if they could find anything.  On April 8, 2015 we went in for the results.  They told us that this was the first time that anything had ever shown up on his DNA testing. They had a lead. Since the results were done on a computer based program they didn’t have the ability to study the gene directly.  They told us what they suspected it might be and wanted to do one more blood test to confirm it.  They would have to send the blood to Baylor so that a set of scientists could look at the gene directly.  This would take another 6 weeks to get confirmation or denial of their suspicions.

At that time we were not willing to share what they thought it might be.  Some part of me thought that if I said it out loud it would be true.  If I kept it to myself, then of course it would be negative.  I prayed harder than I have prayed before.  I worried inside and hoped that this would not be what they found.  We set our follow up appointment for June 10, 2015 and sat on pins and needles in anticipation of that day.  They requested that we not bring Nathan to this appointment as we never want to discuss such important matters in front of him.  We have always wanted to protect him and his innocence.

I received a call on June 9 saying the results were not back yet and that we may have to reschedule the appointment.  As you could imagine, my heart sank.  We had geared ourselves up for this day and I don’t know that we could have gone any longer.  She said she would call me in the morning if we needed to reschedule.  We never got a call, so we knew it was time to go hear the news.  We went to the hospital and I don’t think Jay and I spoke much on that drive.  We were both so anxious of what we would hear.  In my heart, I really thought that they were going to tell us that it was negative.  The genetic counselor came in and said we have an answer.  Jay and I both absolutely broke down.  All the fears that we were dreading just came true.  We sobbed and held eachother and cried out No!  She left us alone for awhile to ourselves to process the news.  Then her and the geneticist came in to talk about what it all meant.

It is with the heaviest of hearts that I have to let everyone know that Nathan was diagnosed with Juvenille Batten Disease.  Batten disease is a neurodegenerative disorder.  There is no treatment, there is no cure, it is fatal.  It is usually first diagnosed with vision loss.  Eventually, he will develop seizures.  Then his muscles will weaken to the point where he will no longer be able to walk or talk and he will be bedridden.  Eventually, he will need a feeding tube as he will no longer be able to feed himself.  And then, eventually, he will die.  The lifespan for this horrible disease is late teens to early twenties. There is too much to even write about this horrible disease so if you want to research it you can go to http://www.bdsra.org.

I do not have to words to convey how broken hearted we are. You never plan on hearing news like this for your child.  You want everything for your kids.  You want them to be healthy and live a long happy life, well past your own life.  You do not want to bury your own child.  This is now something that we have to worry about.  This is our worst nightmare and we really don’t know what to do.

I ask that you share this page with at least one person in the hopes of spreading more awareness.  This is such a rare disease that it is hard to connect with other families.  If we can spread the word, then maybe more awareness will come to this and reasearching and funding will become more prevalent.

We thank you for keeping our family in your thoughts and prayers.  We need them now more than ever.  Thank you to everyone who has reached out to us.  We are so thankful for the support that we have received.

Stacey

Advertisements

Batten Disease Awareness

June 4 – 5, 2016 is Batten Disease awareness weekend.  All we ask is that you share Nathan’s story with one person.  Tell one person about Batten Disease. We need more awareness for this disease to help push forward to find a cure.  Share our page with someone (https://facebook.com/sothathecansee) and let them read about his struggles and triumphs.  There are far too many children who are affected by this disease and are losing their fight or have already gained their  wings.  We need a cure and we need it now!  This is an important weekend for all Batten families.
Thank you,
Stacey

image

The need to be held

This has been a very emotional week for me.  It is the one year anniversary of saying goodbye forever to my Daddy.  It has brought out a lot of emotions in me that I don’t think I realized were there.  It has made me think about things that I don’t want to think about.  It has left me sad and longing for more time.  More time with him.  Each day that goes by does not get easier, it gets harder.  It is a permanent reminder about the fact that my Daddy is not here.  I want him to be here.  I am selfish, I want him to hold me and tell me everything is going to be ok, even when I know it is not.  I want to hear his voice and laugh, see his smile and listen to his words of wisdom.  I wonder if he knew just how much I loved him, how much I admired him and thought he was the greatest man in this world?  I do not know how you pick up the pieces when you lose a parent whom you loved so much.  I understand now when people say it is like a piece of their heart is missing.

This week has been an especially hard week with Nathan as well.  He has been having some pretty intense meltdowns. They can last for a few minutes or for hours.  Afternoons are really hard.  He has been very agitated and angry.  He says things that he doesn’t mean and I know it is all just part of the disease, but it is hard to hear. It is hard to watch our son do things that we know we can’t do anything to help him.  The fact that our 11 year old son has Dementia is a fact that is just plain wrong.  I have never had any experience with Dementia before and I can tell you it is heartbreaking.  It is like the Nathan that was there a year ago isn’t there anymore.  Everyday there is just a little more that is missing.  It might be ever so slight, but it is happening and I can’t do anything about it.  It is ripping me and Jay’s heart out.  It is not like Nathan has a cold or a broken bone where we can take him and fix it.  There is NOTHING we can do but watch.  Watch as this disease breaks our little boy.

We all as human beings have the same basic need to be held.  Whether that be emotionally, spiritually or physically, it is a need inside of all of us. I feel a desperate need to be held right now.  I have developed a different relationship with God through all of this.  I have had my moments of anger and not understanding why this would happen to our little boy, but overall, I feel a much stronger connection with him.  I feel like I am being held by God.  I think it is only by the grace of God that I am able to get up everyday and do what I do.  I feel emotionally held together by Jay.  If I didn’t have him, I would not be able to move forward each day.  He and I have been through so much together and I can honestly say that I would and could not do this without him.  He is so strong, strong enough for the both of us.  Physically, I wish I could hold Nathan. He won’t let me though.  He does not like to hug me.  Every now and then I get the perfect Nathan hug and I wish I could freeze time, because they are truly the best hugs!

If I could give one piece of advice, it would be do not wait to tell someone that you love them.  Pick up the phone and tell them.  Drive to their house and tell them. Life will not wait. Life is short and precious and you need to let those around you know that you love them.  Try to be a little kinder to those around you.  We are all fighting battles that not everyone can understand, and the world needs people to just be better to one another.

As always, thank you for loving our family.  Your thoughts and prayers are so appreciated.  We appreciate the words of encouragement.  Please continue to share our story to help spread awareness so that one day there can be a cure for Batten Disease.

Nathan_Batten_Battle

Why I hate Batten Disease

I could give an endless list of all the reasons why I hate Batten Disease.  I could explain to you all that it has taken from my beautiful little boy. He was once this healthy young boy who ran around the house and climbed on everything.  He played sports and was pretty good at them too!  Over the years things have changed and that is what caused us to seek answers.  However, it seems that since we got our diagnosis, things have changed or perhaps we are just hypersensitive to it.

The little boy who once ran around this house, walks very slowly.  He has to feel his way around everything.  We have not moved the furniture in 6 1/2 years and he seems to have become more unfamiliar with his surroundings.  He wears braces on his legs now.  The doctors said “they want to keep him walking as long as possible.”  The little boy who used to be able to make up all these wonderful, imaginary stories now has a hard time speaking.  He has to concentrate on each and every word.  He stutters and gets stuck on the same word.  If you were not around him often, you would not understand what he is saying.   The little boy who used to see everything, now has to have everything described to him so he can imagine in his mind what it looks like.  I know how devastated we are by all that Nathan has lost, I truly can’t imagine what it must be like for him.

Our days have become increasingly difficult.  Trying to navigate his wants and needs in the middle of meltdowns.  Trying to get him to take his medicine so that he will feel better while he is screaming is extremely hard.  Watching him scream for hours about things that do not make any sense is exhausting.  For him especially, but I would be lying if I didn’t say that it takes a tremendous toll on the whole family.  Trying to rationalize with him when he is so upset and not being able to satisfy him with anything is so frustrating as a mother.  I am supposed to be the one who can fix anything.  I cannot fix this. I want to so badly.

The last few days have been extremely hard on me.  Over the weekend, he wakes up and he just screams and cries for hours.  He has come home from school the last two days and is just mad.  He will sit on the driveway and refuse to come into the house and just scream.  He calls me names and yells at the tops of his lungs. Today it got to the point were two of our neighbors had to come over to offer me help.  They were trying their best to diffuse the situation but I can’t help but feel a little embarrassed and so exhausted by the behavior.

The fact of the matter, is that this is not my son.  This is not the little boy I used to have.  I know that I have to understand and accept that this is the way it is, but I am so angry.  I am angry that it is taking his sweet personality and affection and changing him.  I know that behavior changes are part of Batten Disease, but I hate watching it.  I feel like I am losing him day by day.  My heart is broken and I do not know how to glue it back together just so it holds a little longer.

I have cautiously watched what I have written here over the years as I never wanted to portray Nathan in any kind of a negative light. However, this is not Nathan, this is what Batten has done to him.

I truly have tried to focus on the positive, but I feel like I have to be honest as well.  Things aren’t so great.  It is tough to not have help.  It is tough to not be able to leave the house to run to the store.  I feel horrible having to call Jay to ask him to stop and get dinner on his way home because I could not cook dinner.  I feel horrible that I don’t keep up on the house work because by the time Nathan goes to bed, I am so physically and emotionally exhausted that I can’t even do a load of laundry.  I hate that Jay and I can’t go on a date whenever we feel like it.  I hate that I can’t have an uninterrupted conversation with my daughter.  I hate that she feels so left out.  I could go on and on about all the things that I hate, but one fact remains.  I love my son with every part of my being.  If you could go back in time and tell me what my life would look like now, I would never, ever change it.  Of course I would take away this horrible disease that has settled into our lives.  But I am blessed with the most beautiful family in the world.

As always, I ask that you please share our story to help spread the awareness of this disease.  For more information on Batten Disease you can always visit http://www.bdsra.org.

Thank you for praying for our family and for all the kind words that you send.  We appreciate them and are so thankful to everyone.  Thank you for loving my family.

Stacey

Nathan_Batten_Battle

What a difference a weekend makes

On July 9, 2015, Jay, Madison, Nathan, my Mom and I traveled to Chicago, IL for the Annual Batten Conference. I have to admit, I was a bundle of nerves.  I had run through every scenario in my head. It started with arriving at the airport.  How would check in go, how about the flight?  Nathan can have a hard time on long flights and I don’t like to disturb anyone. How far would the drive be to the hotel?  We were traveling early and the first event was that night.  Would he last the day without having a meltdown?  As you can see that is a lot of worry just to get us to our destination.  Then I had the additional stress of the conference.  I had NO idea what to expect.  I was thrown into this world on June 10th and had no idea the family that would be waiting for us.

We had been corresponding with several families via Facebook on a Batten page for families and we were eager to put faces to names.  But I would be lying if I said I wasn’t scared to death.  It is really hard for me to go into new situations . Especially situations where I don’t know what to expect.  I remember being nervous walking in and the very first thing we did was go to a newly diagnosed family meeting. That is where all the families who have been diagnosed over the last year would meet their host family and have a chance to ask questions or just take a deep breath.  I remember being very overwhelmed in that moment.  We then went on to a cocktail party where we just got to visit with all the other families.  I finally got to put so many faces to so many of the children’s pages that I follow.  That is the night Nathan met his new buddy Joey.  It was like looking at a mini version of Nathan.  Joey is so similar to Nathan is so many ways.  For the first time ever I felt this amazing feeling like there is another kiddo who is like Nathan.  Nathan has always been so unique.  It was like no one ever understood him but in 3 minutes of their meeting, Nathan and Joey were buddies. To follow Joey, please go to Joey’s Journey – Juvenile Batten Disease page on Facebook, he is an amazing little boy with a phenomenal Mom!

The next morning started with Jarrett Payton speaking.  We arrived a few minutes late and were not quite sure who he was.  I kept asking Jay, “who is that?”.  All he could say is, “I think it must be an athlete of some sort.”  He kept talking and there were stories of Michael Jordan being at his house and going to basketball games and seeing Scotty Pippen.  Even I, who doesn’t know much about sports, knew those names.  But I still couldn’t figure out who he was.  He gave a wonderful speech and near the end made a comment about his Dad being called “Sweetness”, Jay leaned over and said that is Walter Payton’s son! Ok, even that one I knew:)  He finished his speech and a few minutes later left.  I have no idea what came over me but I became very emotional.  I needed a minute to myself.  I left the conference room and was walking towards the door in the lobby and I could see Jarret walking back in.  As he got closer to me, he grabbed my arm and said “Are you ok?’  I immediately started sobbing and told him that no, I was not ok.  I proceeded to tell him that our son was just diagnosed on June 10th and was feeling very overwhelmed and needed a minute to breathe.  He told me at he was in his car and ready to go home but something was telling him to come back in and that I was the reason he needed to come back.  He gave me a huge hug and comforted me.  It was a very odd encounter.  I had not cried up until that point except for at the Doctors office in June.  And here I was crying to a complete stranger.  He told me a really nice story about is Dad and we had a nice conversation until I could compose myself a little better.

We spent the next three days in jam packed sessions.  We met with Scientists, Doctors, Researchers, affected families and extended members of those families.  In fact there was one scientist who was there that 24 hours prior had been running with the bulls. He jumped on the plane to be at this conference. There were over 400 people in attendance at this years conference.  It was the biggest turn out yet.  We had mini sessions that we would go to.  We learned about how to better navigate an IEP, how to communicate our needs to our spouse, how to speak with Doctors and get them in touch with the experts in the field, what new doctors might be good to add in to our mix.  There was one session on caring for the caregivers.  It taught us that it is ok to ask for help, which is something that Jay and I both struggle with but are trying really hard to get better at.  One night Jay and I stayed up until 2 in the morning talking to a couple other Dad’s and that night I could have been an expert on seizures.

It is amazing what all these families have gone through.  All of these children are so different, but yet we have all traveled such similar journey’s.  Some like us it has taken years to get the proper diagnosis.  Trying different medications to try to curb an undesirable behavior when in reality, that was never the issue. I think about all the things that we have put Nathan through that maybe we didn’t need to if we had known.

I believe that Nathan has always tried so hard to fit into a box that didn’t quite fit him.  Yes, he has had friends at school and he is happy, but I have never seen him as happy as he was during those three days.  He fit, he belonged and people just got him.  He discovered that he was quite charming with the ladies and there were several marriage proposals and kisses on the checks or hands.  And he even discovered all the gentleman’s beards and was not afraid to ask to feel them.  Everyone obliged and were very gracious about it. There was not single person there that didn’t understand when Nathan was having a problem.  It was normal behavior and I cannot tell you how good it felt to be surrounded by understanding.  I said it many times that weekend that I didn’t want to leave the bubble.

There were groups for the siblings as well.  Madison had lots of kids to hang out with that finally knew EXACTLY how she felt.  They did day trips and went to the Aquarium and to dinner at Medieval Times for dinner.  There were lots of activities she could have participated in if she chose to, but she was uncomfortable.  We were reassured many times by the older siblings that this is very normal behavior.  It is very understandable for her to be completely overwhelmed by what she was seeing.  It may take several conferences for her to feel comfortable with her surroundings. We just want her to be assured that the support is there for her.  We know how hard this is for her.

Looking back I wish walking into the conference I could have known that I was going to feel like I found a second family and maybe taken a little more time to relax and enjoy it and take a deep breath.  Next year for sure.

Stacey

NathanNathan2Nathan3Nathan5Nathan4Nathan6

Facebook site

I am not the most technologically savvy person, so I am not sure how my WordPress site is linked to my Facebook site.  I wanted to let everyone who may not know that I have a Facebook page what it is.  You can find it at Https://Facebook.com/sothathecansee

Sometimes, I update information there more frequently, so I just wanted to make sure everyone knew this information.

Thank you,

Stacey

Coming to terms

It has been two weeks since we received Nathan’s diagnosis.  I would love to be able to say that I am processing it.  I would love to be able to say that I feel better now that I have an answer.  I would love to say that now that we know what is going on, we can do something about it.  Unfortunately, there is no way to process this, there is no way to feel better and there is nothing we can do.  I cannot fix this.  I am his Mom and I am here to care for and protect him, and I could not protect him from this.

I do not have the words to express the depth of my sorrow that I feel for the future that lies ahead.  I have had such a hard time expressing my emotions. I cannot seem to cry.  I want to, I want to sob and cry so hard that it hurts, but I can’t and it makes me feel like I am doing something wrong.  I need to grieve, but there is a part of me that feels like I have been grieving for the last 6 years very slowly.  I have watched pieces of Nathan slip away.  He is not the same little boy that he used to be.  I have watched skills slip away slowly.  So part of me does feel like I have been grieving this whole time, but that the full impact of what we found out has not hit me.

I have read everything I possibly can about this horrible disease that will now encompass our lives.  It will take our sweet boy and change him and I don’t want that.  I want to put him in a bubble and save him from what his future will be.

The next phase of this disease for Nathan will be seizures.  I have never been exposed to seizures and truth be told, they scare me like nothing else.  We are exploring the possibility of obtaining a seizure dog.  There is one company that can provide them to children under 16.  We are working on getting an application in to them and then we will have to fund raise in order to get this dog.  It is not my favorite idea, but I am at the point that if it helps Nathan, then we do whatever it takes.

We are going to be attending the Annual Batten Disease conference July 9-12 in Chicago, IL.  We will be taking the whole family and my Mom with us.  We are really looking forward to this opportunity to connect with other families who know what we are facing.  It will be good for all of us to be together and be able to get questions answered and meet with Doctors and researchers and other families. They have break out sessions for Jay and me and even the Grandparents.  I am especially happy that Madison will get to connect with children her own age who have a sibling who is affected by this disease.  There is no one in her life that can possibly understand what she is going through.  It is so critical for her to make some connections with other kids that she can maintain relationships with through this process.  They will have care for Nathan too so that we are able to listen without interruption.  One thing we have been very careful with is that Nathan not hear this word or what is going on. We do not want him to know.  He would not understand and it would be very scary for him.  So I am pleased that there will be volunteers there to help with him so that he is not exposed to all of this.

As always, we ask for your continued prayers for our family.  We are struggling and some days it feels minute to minute. Thank you all for caring about my family and about how we are doing. I ask that you continue to share our story so that we can spread as much awareness as possible about this disease so that we can do all we can.

Stacey

Nathan