So I have been trying for a couple of weeks to sit down and summarize what all has transpired in our lives and every time I try, it is a little overwhelming. I feel like if I write the words then it is true and I so badly do not want it to be true. I want to wake up and have all of this be a bad dream, but it is very much our reality so I guess it is time to share.
As I stated before Nathan started doing some strange and unusual things with his eyes over the last couple of months. We noticed it quite a bit on our vacation. He would roll his eyes back into his head and stay like that for short periods of times. When we would ask him what he was doing he would act like he did not know what we were talking about. When asked to put his eyes back, he would tell us he couldn’t, that it hurt. Honestly, it was disconcerning to look at, but I attributed it to another thing that he did. I think it bothered Jay more than me.
When we returned from our vacation, a much needed one at that, the teachers at his school noticed the same thing with his eyes. Apparantly, one day while walking inside from recess, he was holding on to two of his friends and when he got inside he became upset stating he couldn’t see. They noticed his eyes rolled back and they said in total it took about 45 minutes to subside. They had him lay his head on the table and indicated that he seemed panicked about it. This occurred in late October. At that time we had an appointment to see his eye Dr. for a regular checkup on November 13th. The vision specialist that works with Nathan at the school said it would be worth a phone call to see if they wanted to see him earlier. I made the call on Tuesday and we were in to see him Friday, November 1.
The nurse examined him first and did the same series of exams we had seen before, but you could tell she was taking more time and seemed to notice things that made her “redo” certain tests. When she was done she looked at us and said she was sorry but his vision had decreased significantly. We asked her what that meant and she said the Dr. would go over it all with us. The Dr. came in and did his exam and looked at Nathan and said “Buddy, I am sorry, but your eyes are worse”. When we asked him how much worse he said that they were more than 125% worse since May 2013. Nathan was sitting on my lap and I had my head on his shoulder. He turned around and asked if I was crying and I said yes. He said “don’t worry Mommy, I am strong!”. The Dr. also noted that his Optic Nerve was paler than before which is a sign of degeneration. At that point he indicated there is nothing that can be done. There are no surgeries, no cures, no fixes… nothing. He recommended that Nathan be trained with a cane as soon as possible, which we are in the process of. He is in the beginning stages of early Braille. We left the appointment feeling very deflated.
On the following Tuesday, we received an email from his eye Dr. that indicated he had met with the head of the genetics department at Children’s Hospital. We had met with him back in May of 2012 and had some genetic screening done that all came back normal. He presented Nathan’s case and they have indicated to us that there is a possibility that Nathan may have a degenerative Nuerological or Metabolic disorder that they have not discovered yet. They have always said that he had Optic Atrophy. Now they think there is a real possibility that he has an underlying disorder that had caused the Optic Atrophy. They wanted us to get back in to see the genetics department.
We called and they were scheduling out into January. The Dr’s. always recommend not to google what they talk about, because believe me, it is scary. Of course we don’t usually listen to that advice and we started reading what the possibilities were. Jay immediately got on the phone and called the genetics department to see if they could see us sooner. He contacted the eye Dr. to see if he could pull some strings. We were told that Wednesday that a couple of months is really good and some people wait up to a year. HOWEVER, we got a call on Thursday letting us know an appointment had “become available” the next day, Friday the 15th. Of course we took it! I think Jay’s persistence paid off.
It was an early appointment and I had asked if my parents would meet us there to help with Nathan. There always comes a time when the Dr’s need to talk to us and it is hard to focus when he is in the room. We don’t like to talk about him and the things that are “wrong” with him in the room. As it turned out at the last minute my parents couldn’t make it. I was a little nervous. When the nurse went to get all his vitals he refused. He would not stand on the scale or let her measure him and I thought oh boy, this should be fun. We went into the room and there was the metabolic Dr., a student and a counselor. A few minutes went by and then this young lady walked in and announced that she was with child aid and her job was to entertain and play with Nathan during the appointment. Thank God! She came at the perfect time and played Legos and Star Wars with Nathan so that we could concentrate. The Dr. explained to us that they want to do a secondary DNA screening. He said there was one particular disorder that they really wanted to rule out. He flat out told me he would not tell us what it was ( darn google). They will do a enzymatic test that takes about 3 weeks to get the results and then they will do a full DNA test that they send to a lab in Massachusetts that will take 4 months!!! It will look at over 220 things that could be affecting Nathan. He also wants Nathan to see a Neurologist to have a full exam and is recommending another MRI. They want to compare it to his previous MRI done over a year ago and see if there is any change to his grey matter. We have that appointment set for January. We have the follow up appointment set for April 1 to go over all the results with all the Dr’s at the same time.
So, a lot of information for a long wait. We have done our part and now we just pray that if they find something, it is something that we can get him help for. We do not want to see him struggle the rest of his life. I want him to live life to the fullest and not be restricted in so many ways.
Thank you to all of you who have hung in there with us. You know when we have needed to talk and when we have needed to cry. You have also respected when we just don’t have the words anymore because it hurts to say it out loud. We love you and are forever grateful for your love and support of our family.