Nathan had his first music therapy session today. He loves music, so this was right up his alley. He really enjoyed the “tangerine” and strumming the guitar. He even made up a few songs. It was really sweet to watch.
My heart is broken. Nathan came home from school today and you can tell he had been talking about cars and driving. Lately, he has been very interested in keys. His teacher gave him an old set of keys to come home with and was asking lots of questions. One of the questions was about how to take a driving test. He became very upset because his teacher reminded him that a person has to take the test alone in order to pass. He kept saying “but I am blind and can’t see so can you please help me take the test?” I didn’t answer right away, I was trying to find the right words. He then asked if I was blind like him would I be able to drive? I explained to Nathan that unfortunately when someone is blind they cannot drive and he said “what about an automatic car?” I said absolutely! I will NOT let Nathan believe it is not possible. He went on to tell me how all he wants to do when he grows up is be able to drive, get married and have kids. He literally talks about getting married all the time! How would I ever take that away from him. We do not discourage this idea, we just tell him he has to wait until he is older. I never want him to feel like he won’t be able to have a love like that. It is days like these where I physically want to throw up from the thought of his future. It is also days like this, that I hold him a little closer and thank God for the gift of him.
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.
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.
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.
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.
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!