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

The day our world changed

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 heart 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

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Officially a Sixth Grader!!

Nathan had his last day of 5th grade today! He ended the year with a party at the park.  Yesterday we had a meeting with the school hearing all about how much Nathan had matured this year.  He is able to be re-directed easier and is willing to work.  That is a huge difference from last year. 

It was such a nice opportunity to hear from all of the people who put so much effort into making school enjoyable for Nathan.  They go out of their way to find fun activities for him to participate in.  They are very creative in how they teach him.  You have to be creative to teach someone who is blind and needs hands on learning.  This has been the best year so far.

And a special thanks to Mrs. Parker for making Nathan feel loved.  Even though he wasn’t an active participant in her classroom, she always tried to find a way to include him.  If you read or remember  my post from a couple of years ago, this is the same teacher who made Nathan an honorary 5th grader when Madison was in her class.  She has a special place in our heart. ♡♡

Here is to all the teachers who do so much every day for their students.  A lot of it goes unnoticed, but I promise we see you and appreciate everything you do!!

Have a great summer!
Stacey

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All the little milestones

Today, Nathan participated in his 5th grade field day.  I remember doing this as a kid and it was a sign that summer was right around the corner.  We had rain almost the entire month of May, so I was happy that today was a beautiful day for him to be outside and have so much fun with his classmates. I can’t believe that in less than a week we will have a 6th grader.

Madison finished school yesterday and will be going into 8th grade.  She finished the year on the Honor Roll and we could not be more proud of her and all her accomplishments.  These are the type of accomplishments that we sometimes take for granted.  She is so smart and able to do so much independently that we need to be more mindful to check in with her to make sure she is okay.

Today was a happy reminder that Nathan is loved by his teachers and his peers.  I can’t begin to describe the worry that I have felt over the years wondering if when he is not with me if people were kind to him or paid attention to him.  I have wondered if he really had friends at school, I have wondered how a whole year can go by without an invitation to a single birthday party.  And every so often Nathan will question it, but mostly, he is happy.  This school year was the most pleasant year Nathan has had so far and for that I am a happy Mama!

We go back to Children’s Hospital on June 10th to get the final results of the DNA testing that they did.  We should have a definitive answer at that time.  The Doctors have requested that just Jay and I attend this meeting.  Words do not adequately describe the pit in my stomach.  I literally ache over the idea of what we might hear.  But I pray daily for help to get through whatever we may face.  I ask that you pray for us as well.  I will update everyone as soon as we are ready to let everyone know.

As always, thank you for the love and kindness you have shown to our family. It truly means the world to me especially.  The other day we received a post card and it was such a sweet reminder that people have not forgotten about our son.

Stacey

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Service Animal

I am putting some feelers out to see if anyone has a contact to train a service dog?  I have a contact for a Therapy dog, but would like to look at the possibility of having a dog trained as a Service dog for Nathan.  These are two very different types of training and allow the dog into different places. From my research,  this can be very expensive and I am trying all avenues to see what  is available.

Thank you,
Stacey

Some answers

I don’t want to leave everyone  hanging with the results of our tests.  We found out some potentially  heartbreaking  news today.  However, in order to be 100% sure, they want to do one more blood test that will take 8 weeks to get back.  At that time,  we will know for sure what we are dealing with.   I am not comfortable at this time sharing what we found out.  I will ask for your prayers for Nathan and our family.  It was one of the worst case scenarios  for us and we need your prayers now more than ever.

Thank you,
Stacey

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Say a little prayer

Tomorrow, April 8th we have our test results appointment with the genetics department at Children’s  Hospital.   We will find out if they found anything out on Nathan’s DNA testing they did  back in December.  They will also determine  if there were any “incidental” findings on either me or Jay.  If they don’t find anything, we will have to revisit a year or two down the road.  We will definitely have to schedule an MRI for this year to compare to the one last March.  This is all so scary to us and I just don’t know that our hearts can handle anymore  heartbreaking  news. So, if you have some time tomorrow,  say a prayer for our family.  We would really appreciate  it. 
Thank you,
Stacey

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