Every year I share what I wrote seven years ago. It was absolutely the worst day of our lives. There are no words that I can come up with that could accurately explain the feeling we felt when we received the news in the geneticists office. I remember letting out a guttural cry. One that I have never heard myself scream before. In that moment all the hope that we had had for Nathan and for his future vanished.
Hope has been a very funny thing for me. I always had it and knew it existed. But for the last seven years it has disappeared. I stopped believing in hope, there was no point, my
son was going to die.
On Wednesday we traveled to Houston, Texas. On Thursday, June 9, 2022, we had an appointment with the Principal Investigator at Texas Children’s Hospital for a clinical trial. June 9 happened to be International Batten Disease Awareness day. And today on June 10, 2022 which happens to be the 7 year anniversary of Nathan’s diagnosis we have officially enrolled into the Batten-1 clinical trial to hopefully treat the symptoms of Nathan‘s Juvenile Batten Disease. I don’t find it coincidental that these dates lined up. We did not pick them, they scheduled it for us, but there is something about the significance that seems full circle to me. We will still have to travel to the NIH at the end of the month for a week long series of tests and once we return home Nathan will officially start the medication.
And here is the funny thing about Hope, it has been restored and what I am clinging to.
Please pray for us.
June 10, 2015
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.
2 thoughts on “7 years”
Ea and every year when I get your message I am filled with so many emotions…My adult daughter has Epilepsy . She was “fine” unit she was not ..at age 8 I found her under her bed having a grand mal seizure. So began our journey….what i find amazing is that we kept hitting brick wall after brick wall UNTIL she had a Neuo psych eval at children’s Hospt in Oakland….that was like striking gold for us…( and we asked for it on the advice of another PARENT who had some of the same issues we did…) She is now 39 …married with 3 children and I honesty believe she would not have survived long had we not gotten the Neuro psyche done…Parents know..You Knew….I pray daily and though I’m 79 yrs young I still advocate for that test for any parent I come across….I pray the future with this treatment will be fruitful and I look forward to your next email…God Bless Love and Hugs Patti