When we started this journey with Nathan 5 years ago, I thought we might go to a doctor, talk about what we noticed and leave with a diagnosis. I had NO idea that we were getting ready for what would become the nightmare of a lifetime. Nathan has had numerous tests, evaluations, questionnaires, blood draws, genetic testing, MRI, Visual Field Tests, VEP’s, you name it and my child has done it. 5 years later, we are a little closer to understanding all that is going on, but I promise you that we are just scratching the surface.
We have changed doctors so many times due to lack of information or their inability to look past their own noses to see my son sitting in front of them and hear us tell them what is going on. Believe me parents do actually know about their children. They know what they are like outside that doctor’s office when they are on their “best behavior”, so please do not pretend to know my child that you see every year or so.
We wait, that is what we do. Currently, we are waiting on the results of the genetic testing that they are doing. They are doing two types. The first type is biochemical which we should get results within 2 weeks (testing was done 3 weeks ago) and molecular, which is where they sent that blood to Baylor to have the DNA stripped and are looking for major diseases. I asked the doctor if he would write down the names of what they were looking for. He said, “Parent to parent, I would rather not. These are very scary illnesses and I don’t want you to look it up on the internet and be scared in case it is not what it turns out to be”. They indicated that if it comes back as something serious that they will hopefully have caught it early enough to intervene or help us get through it. The next step at the end of this month will be to see a Low Vision Specialist, I believe to provide us with accommodations. Then back to the Ophthalmologist for the latest update on where his eyes are. So we wait, that is what we do.
I want to know what is happening to my son? Why is he losing his eyesight? Why he can’t be like every other 3rd grader and do all the things that they get to do. They all ride bikes and scooters and play sports. When we go for walks we have to hold his hand because he cannot see the curb to step down or a car coming. He looks at the other kids and I am sure wonders why he can’t do those things either. We have been told by the Chief Ophthalmologist that since he is considered legally blind and disabled that he will never be able to ride a bike or drive a car. These are rites of passages that a child should be able to do. I can’t help but feel that he is missing out. He will be provided with a public transportation pass when he gets old enough. As a mother, that is just something that breaks my heart. If Nathan does lose his vision, then he is supposed to just go get on a bus? Where would he go? Will he be able to have a job? Will he be able to live on his own? Will he find someone to love him for him and not because he is naive? These are all the things I think of late at night when I can’t sleep. I wonder and I worry. I want him to be whole and happy and healthy. And I can’t help feel that I failed in some colossal way. I worry that Nathan will have to live with us the rest of our lives. However, I know that we will be the lucky ones who get to have him with us for as long as he needs to be.
My family is my life. I can’t help but feel completely helpless in this situation. My heart breaks every day when I see some task that Nathan can’t do or could do and now can’t. I am really doing my best to find the best in these situations, but it is hard. I am not used to seeing my child’s health deteriorate. We have to be so careful in the activities that we do to make sure that we are accommodating for him. I am sure that we come across as the most over protective parents in the world, but when you have a child who can’t see, you have to be. I want Nathan to always know that he will have the best of us. No matter what the future holds, he will always have everything we have to give. There will never be a stone left unturned. We will always fight for what is right for our son.
Nathan's Batten Battle 
My thoughts are with you as you continue to do all that you can to find the answers that the medical community are either unable or unwilling to give you for your son. Everything in your post resonates with me. It’s taken 16 years to find out that my son has chromosomal deletion. During that time I’ve seen too many doctors with too few clues about what’s been happening to my son. Everything it seemed was put down to his Autism. I applaud you for doing all that you can for your son. I only wish the medical profession would get on board with us as parents and understand the immense gravity of the situations we face. Perhaps then they’d be less likely to fob off all of our legitimate concerns and need for answers. All the best to you.
Thank you! It is a long journey and I cannot imagine 16 years, but you do what you have to do. Hopefully you have been able to find some answers with a diagnosis. I think we are still just scratching the surface with our diagnosis. I do agree that doctors need to pay more attention to the parents, but it is also dialogue. We all need it but some aren’t willing to give it. Thank you for your kind words.
Stacey & Jay…read Isaiah 41:13 and 41:10. These have sustained me many times. My prayers are with you Love Ria