Life around here

It has been such a long time since I have been able to sit down and write anything about our lives and what is going on. 

We were able to go on our family cruise in September and it was a wonderful time. Cruises are great as they allow us uninterrupted time to be as a family. We do cherish these moments. Madison is growing up so fast and in 2 short years will be done with High School.  We are blessed that for now she still enjoys being with us, so we are taking full advantage of that😊

 I tend to get a little melancholy during the Holidays.  They sneak up on me and I feel overwhelmed with everything that needs to be done and stress about how to do it all.  Christmas shopping has become increasingly difficult and flat out depressing.  It is so hard to find toys that we know Nathan will enjoy.  He love Star Wars so much and there is only so many items to buy that are interactive for him.  Being blind sucks! I cannot tell you how many times I told Jay “I wish Nathan could see, he would love this.”  We would walk around toy stores and leave with maybe an item or two and unspoken sadness between us. We were able to find his beloved Darth Vader action figure and that made him really happy.  He even slept with it.

Nathan was able to go to Children’s Hospital and participate in the Make-A-Wish shopping trip.  It is such a wonderful event where he gets a personal shopper and makes a list of a few people and gets to “buy” presents for them.  This year he chose to buy for his family and all his nurses. It is always fun to open them and see what he thinks we will enjoy.  And of course, he made a couple of new girlfriends.

Jay and I managed to sneak a few trips to Vegas in this year.  It is a quick weekend that logistically takes planning, but if it all falls into place works!  It is so important for Jay and I to have alone time together. It is a chance to reconnect and laugh a little.  Day to day, we survive. A little getaway is what works for us.

The reality is, this is life.  I find more sadness creeping in.  I try so hard to find joy, but let me tell you it is HARD.  Batten Disease does not take a day off,  it never rests and it always reminds you that it is there.  I want so badly to hold my son but he can’t stand to be touched. I want to hug him, but it has to be on his terms and is usually hard and quick.  I want to have some normalcy but truthfully I forgot what that looks like.  

We were invited to a New Years get together which was the first gathering we have been to in a long while.  Nathan sat on the couch the whole time and didn’t move. Those are moments that I am glad to be a part of but remind me that this is our new normal, and I don’t like it.

Nathan has been home from school for the last two weeks for the Christmas break.  The break in his routine is never pleasant.  I tend to forget how hard it is on him.  He has been waking up very early and screaming for hours.  His nurses have done the best they can to help him. I have worked from home in order to be able to accommodate the hours, but it has been really tough.  I think we will all be very thankful when school starts back up on Monday. 

Everyone always looks forward to a New Year.  I cannot say the same.  When you have a child with a life expectancy, you don’t really want to move forward.  I just want to stay right here, right now.  It may seem crazy but I need time to stop. I am not trying to sound dramatic or gather pity, but feel the need to be honest with where I am at right now.  These feelings come and go, but seem to linger longer than I would like.  I always just wanted a happy, healthy family,  but that is never guaranteed.  But I will say, it could always be worse.  Health wise, Nathan is doing pretty well.  He still has not had any seizures, thank God!  His mobility in the home is still pretty good.  His speech is holding steady, so we are definitely thankful for all of these things.

We wish everyone a very Happy New Year.  May you all find the joy, happiness and blessings in everyday life ♡

Stacey 

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Annual Batten Conference

Every year we mark our calendars to attend the annual Batten disease conference. This is a five day period of time that we look forward to so much in order to regroup with our new extended family. It really is hard to put into words what this time means to us. 

It’s a time for joy for seeing all the families that we love so much. It’s a time for sadness as we see the children that we’ve seen the past few years before.  Some of those children have declined and some of them are no longer with us. We also met so many new families, which means a tough road for so many more. It’s a time for reflection and realizing what the future holds for Nathan. And right now it’s a time for hope for a new clinical trial that is in the works that we pray Nathan can be a part of.

This year we gathered in Pittsburgh, which was an amazingly beautiful city. Nathan did amazing on the flights, he was calm and well behaved, which always relieves a lot of the anxiety I have.

As soon as you walk in the door to the hotel you’re always greeted by familiar faces that you just can’t wait to hug on. This year’s conference was much different than our first year. Our first year we walked around confused and searching for any information we possibly could. This year was much more about the reconnection between friends. For both Jay and I as well as Nathan. We got in front of the researchers, the scientist, the doctors and everyone we possibly could to learn as much as we can about the upcoming trial. It does look like the trial will start in early 2018. At this time we do not have any other information regarding the criteria that will need to be met in order to be enrolled in the trial. We do not know how many kids they will accept into the trial. This is a very scary time for us as of course we want Nathan to be accepted into the trial but we also know that every other parent out there once their child accepted as well. We all want to save our children.

We were able to go in a day early and stay a day late and spend some time with some dear friends of ours. Next year the conference will be in Nashville and we look forward to reconnecting with everybody once again.

Stacey 

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

Much needed help

Over the last couple of months it has become very apparent to us that Nathan is going to need some extra help getting around. He heavily relies on his wheelchair when not in the home and a lot of times in the home will only move if he is in his wheelchair. We have had friends ask us periodically what we need and I have always told them I don’t think we’re going to know what we need until we need it and we’re going to need it right away. That seems to be the situation that we found ourselves in recently.
About a month ago Nathan started taking the lift on the bus to school. Once he returned home from school I would push him up the driveway into the garage and beg him to stand up and walk up the four steps into the house. Some days were easier than others and some days it was just pitiful. He would scream and cry that he was scared, his legs would shake so bad that you could see them move and there was nothing I could do to calm him down. Once in the home he demanded that we bring his wheelchair into the house in order for him to get around.

Nathan is only 13 years old but he is 5 feet 10 inches and weighs 140 pounds. He’s not the easiest kid for me to maneuver. We realized that our immediate need was a ramp to get him into the house safely. The next step will be converting my van to be wheelchair accessible.

A dear friend of ours contacted one of her friends and told him about our situation and immediately he offered to come and build us a ramp. Within two weeks we had it set up for a group of guys to come and build a ramp in our garage so that Nathan could safely get into the house. Today they showed up, dropped off the lumber, built the ramp and left without requesting a thing from us. Their time, their talent and all the materials were donated to us.

Jay and I are beyond thankful for the generosity that was shown to us in this great act of kindness. It will enable us to be able to get Nathan into the house without meltdowns or fights or even him being scared. It’s times like these where words truly don’t describe our gratitude and all we can really say is thank you, but it goes so much deeper in knowing that it improves the quality of Nathan’s life and at the end of the day that is the most important thing to us.

From the bottom of our hearts, to Eric and Rob and the guys that donated their time we thank you.

Jay and Stacey 

Spring Break

I apologize for the delay in posting about our Spring Break trip to Disneyworld. It has been a whirlwind last couple of weeks and I feel like I am just getting my feet under me.

We had a really rough couple of months leading up to our trip.  We made the mistake of telling Nathan about our trip, and before you say we should know better, we do.  But there is always that part of us that wants him to be able to get excited the same way all the other kids do.  We realized very quickly that Nathan just can’t handle the anticipation. It is physically and mentally hard on him.  He was coming home from school every day in full blown meltdown mode.  He would scream and hit himself for hours on end which would result in bloody noses and nothing could calm him. It was heart-wrenching to watch.  Nothing we did could ease his mind and he could not understand that we would get there eventually.  It was truly the storm before the calm.  Needless to say up until the night before, I was wondering if we were going to be able to go. 

We had been in constant contact with his Psychiatrist and had a plan in place.  We had been having to give Ativan for days leading up to the trip to help call him down.  It took the edge off a little,  but he just needed to get there.  Flying has always been hard on Nathan. We gave him an Ativan about 1/2 hour before take off and 2 hours into the flight and he did great!  

We headed to the hotel.  This time we stayed at the Fort Wilderness Cabins. We thought they would offer a little more privacy than sharing walls with someone and since we were traveling with his nurse, there are only a select few that sleep 5.  We got so settled in for the night.

The first day we went to Hollywood Studios and unfortunately Jay was not feeling well, so he went back to the cabin to sleep a little. We went on all the rides, after we hit Star Wars first of course.  Once we got Nathan his first lightsaber it was as if his whole body calmed.  He just needed his “fix”.  We rode Tower of Terror ( he had not been on that since he was 5) , I should also say I stood in line and let the three of them ride while I waited at the bottom for them.😉. We also rode Rock’n Rollercoaster  (our favorite) and Toy Story Mania. We had a great day and really enjoyed spending some time together. Nathan met a bunch of princesses and proposed to all, who accepted of course!

Over the next 6 days we went to Epcot (We even ran into another Batten family, which was wonderful to see them), Magic Kingdom and Animal Kingdom. Nathan was truly a champ through the whole trip. We even had one night where we left Danielle (Nathan’s nurse) and Nathan at the cabin and were able to take Madison by ourselves back to Epcot and enjoy some one-on-one time with her. It really was a very nice vacation. We all needed a little getaway and I think this was a perfect way to regroup.

We returned home with 12 new lightsabers (yes we were smart and brought a separate suitcase for his new toys). Since we have been home Nathan has been so much better.  We have had some off days but they aren’t the norm right now, and for that we are thankful. There has been a little laughter in the house and that is good.

As soon as we returned,  I had to book a very unexpected trip to Tennessee to support dear friends of ours who’s son passed away from Batten Disease. It was a heart breaking time, but was so thankful I was able to be there to represent our family in support of theirs. 

Since we returned home we’ve had two palliative care meetings. But that is a whole other story that I will save for another time.

Thank you for loving our family and our little boy.

Stacey 

Our cabin

Star Wars- First ride

Building the first of twelve lightsabers

The Storm Troopers saw Nathan and let him feel their outfits

Princess Jasmine

Princess Tiona

I don’t know the name, but she was snarky

Mulan, she was wonderful. She let Nathan feel her entire outfit

Pirates of the Caribbean

It looks like Jay is choking Nathan, but that is how we remind Nathan someone is there with him

Splash Mountain, and yes Madison and Danielle and having a thumb war

LOVE this picture. Thunder Mountain Railroad

And another lightsaber

Epcot

Animal Kingdom. I have this exact picture 3 years in a row, they just keep getting bigger

The tree of life, and Nathan’s monkey ears.

And ANOTHER lightsaber

Back at the airport

Yes, we were exhausted

Nathan turns 13

I will keep it short and sweet, but today, my baby boy Nathan turns 13!!  I cannot believe I have two teenagers. He has been one of the lights of my life.  He has persevered and pushed past limits that I never knew possible. He struggles with so much, yet doesn’t complain.  He is my inspiration and I admire him greatly. I learn from him daily and he has brought so much joy to our lives.

Today we celebrate him and we are so thankful for a good trip to Disney world to welcome him to being a teenager. We could not have anticipated a better trip and look forward to another year of being his Mom and Dad ♡♡

Madison Elisabeth 

I post all about Nathan on this page.  I never post about Madison, I respect her privacy and not wanting the attention, however today I am making an exception. 

Today, is our beautiful daughter’s 15th birthday. March 12, 2002 at 9:07 a.m. she entered this world and we could not have been more in love.  I loved her before I ever laid eyes on her, but when they placed her in my arms, it was a love that transcends words.  I knew my purpose.  I was made to be a Mom, HER Mom.

Madison has always been an old soul.  She has so much depth to her.  She is strong, compassionate,  loving, caring, kind, sweet, courteous, thoughtful, brave and the list could go on. She amazes me every day. She has done things that I could never do, she has conquered many of her fears and is truly coming into her own.
She has had to grow up fast.  With Nathan as her brother it has changed her.  She sees life very differently than most kids her age.  She has a different set of worries and fears.  But she wants so desperately to be just like all her other friends, she knows she is not, some days that is ok and some days it is not.  We are a very close family who support each other and I hope build each other up.

I wish for her the most wonderful year.  She deserves nothing but the best.  I certainly know how much she has changed our lives, and I know she is going on to change the world some day.  

We love you Madison and wish you a very Happy Birthday!

Mom and Dad