Today is the first day of doing this. However, a lot of people have told me that I should. So let me start with some background.
My name is Ashley. I am a batten’s disease mom. What is Batten’s disease you say? That is what I said when we got the diagnosis. Well let me tell you.
Batten disease, or Neuronal Ceroid Lipofuscinosis (NCL), is a rare, fatal genetic disorder where cells can’t clear waste, leading to a toxic buildup of fats and proteins (lipofuscins) in the brain, eyes, and other tissues, causing progressive vision loss, seizures, intellectual decline, and motor skill loss, typically starting in childhood and leading to early death, though treatments manage symptoms but don’t cure it.
Now let me tell you my story…My son Marshall, who is now 9, lost his sight when he was 6. It was gradual but sudden at the same time. We noticed the change when he stopped coming down to play on the computer and couldn’t circle an answer on his homework. He said he couldn’t see it. So being the mom, I set him up with an eye doctor appointment and we got him glasses. This only helped a little. They said that they couldn’t make his eyes stronger and noticed some irregulatrities on his retinas. The worry began at that point.
They then referred us to a specialist. We went to the specialist spent a few hours while they looked at his eyes and tried to figure out what was wrong and what was going on. They said they didn’t have any definitive answers but they did notice the irregularities and wanted to get further testing done.
So off we went on a 4 hour trip to Miami. To what was supposed to be the best eye center in the state. Here’s a little back note, It took me 6 months of calling everyday to get this appointment scheduled. They didn’t have the papers. (I personally sent them over twice and the doctor twice). We were also supposed to have an appointment with the doctor to go over the results on the same day. Welp, that didn’t happen we got to Miami, The test took about an hour. The test was called an ERG. I call it watching my son get tortured for an hour while they put these electrodes on his eyes. UGH. Then the doctor can’t see us. We have to come back next week.
It took SIX MONTHS of planning to get this appointment, I am a manager at a restaurant and can’t just ask off on a whim because they messed up. So We couldn’t go back there for the results. The local specialist gave us the results. They still didn’t know the exact cause of why he lost his vision is. Bare in mind, this was over a two year time frame. After inconclusive results, they suggested genetic testing.
We got the genetic testing done. It was a few more weeks of waiting. We got results that were devasating. Marshall has CLN3. Juvenile Batten’s Disease. The chances of this happening are so rare.
Batten disease is very rare, affecting about 2 to 4 in every 100,000 births, but if both parents are carriers of the mutated gene (which they usually don’t know), each child has a 1 in 4 (25%) chance of inheriting the disease.
Family Risk (If Parents are Carriers):
If one child has it, it means both parents are carriers. For subsequent pregnancies, there’s a 25% chance for each child to get the disease, a 50% chance to be a carrier, and a 25% chance to be unaffected,
This has been devastating for us. We told Marshall his diagnosis. He has handled all of this like a champ. I, on the other hand, have not. I watch him like a hawk. Every little change in him, my brain takes every little thing like. ‘Is this it? Is this his disease progressing?’
Every kid is different, Vision loss is typically the first symptom. But every kid is different. We have been 3 year without another symptom now, as far as we know. He does repeat random phrases, makes random noises, and repeats the same question repeatedly. I have reached out to other people whose children have this afflication and they all say it is progression.
This year has been so hard on us. Financially, we are struggling. We sucked up our pride and started a gofundme and everyone has been so generous we finally have enough for his appointments. I am so proud of him everyday. But my emotions about everything? All over the place.
He was my first child. How do you process or deal with the fact that your child is dying? Slowly. Painfully. You have to watch him regress, as you were so proud of all of his progression as he grew up. It is confusing and devasting.
Also how do you juggle three other children and a full-time job and pay attention to everything you need to? How do you not stress about it every second of everyday? If you figure it out, could you let me know?
I do very well to compartmentalize my problems when I’m at work but there are some days that my emotions get so overwhelming that I can’t contain them anymore. Some songs trigger me. His favorite music, his favorite show, songs that talk about loss and feelings. All of them will make me cry. I try not to cry around him.
His sister gets emotional sometimes too. She doesn’t want him to die. I don’t want him to die. But that is the inevitability of this heart wrenching disease. Not only does it take away life from the person afflicated. It even takes away the life of the loved ones around it.
Why not get treatment you may ask? Well there is no cure or treatment for this disease. It totally sucks.
Thank you for reading this far. If you have any questions, please let me know I will answer them the best that I can. I will continue to log our journey and my feelings, because in all my research there was nothing from the families and I thought some would need it.
Life as a Batten's Disease Mom 