Help Rowan's Fight with CLN3 Batten Disease

Rowan has always been a joyful, spunky, FIERCE girl. I thanked God during each well-child checkup that she was reaching milestones, healthy, and smart. As a toddler, we began seeing sensory issues and were creative about working around them. She knew all of her letters at 17 months, was inquisitive, sharp, and made friends easily. We created many beautiful images together, my little photography muse. She was so proud to become a sister with plans to be an artist and a doctor. She's always been a hard worker, creative, and enthusiastic for each day's new adventure. We're now facing far beyond what we could ever imagine as a parent's worst nightmare.

Friends, we have been brought to our knees. Our world is on fire. Our precious girl was diagnosed with a rare and fatal neurodegenerative disease called CLN3 Batten disease. We learned of her diagnosis in late March and haven't shared publicly yet because we were hoping the effects of the disease would hold off; were trying to give her as normal a childhood as we could. Sharing publicly makes it real. However, since diagnosis and over the last few months she has now lost most of her vision; she's working with a white cane. Her cognition has been significantly affected. She has difficulty with comprehension, she's losing her creative nature and while having always been fiercely independent, needs far more direction than ever before. She's beginning to have motor challenges.

CLN3 is a disease of the nervous system. It causes protein accumulation in cells throughout the body; however, nerve cells seem to be particularly vulnerable to damage. Typically children with CLN3 begin to develop vision impairment, intellectual disability, movement problems, speech difficulties and seizures around age 4 to 8, which worsen over time.

Children with CLN3 lose all mobility and speech, suffer dementia, and have a life expectancy in the teens. CLN3 causes a heartbreaking, gruesome, and gradual decline that strips away every ability.

Many will be surprised to learn this because we have kept our struggle off of social media over the last few months to protect her. We did not/do not want other kids to be aware of her prognosis and mention anything to her that would be upsetting. Rowan is just 6 years old. She's in kindergarten with an amazing team that supports her and the other children are eager to be Rowan's helper. She's handled the vision loss with far more grace than you could ever imagine. She's my brave and fierce girl.

Our goal is to keep her happy; give her everything and every experience we can. Unfortunately, her vision and other challenges have already taken so much. How do you begin to compile a "bucket list" for your precious child? Despite our grief, we are trying our best to make each day special. Rowan was a Make-a-Wish Kid and went to Disney in July, as her vision had deteriorated to a point that we were fast-tracked. There, we celebrated her 6th birthday at Give Kids the World, a special place for Wish kids. We've gone to the beach twice, which she loves. The grief of what she will never experience, the many firsts and lasts she already has experienced is crushing. Not just to Eric, Parker and I, but our entire families.

There is a study that is planned for a drug that has the potential to slow progression for CLN3. It is currently FDA-approved for another rare disease. We are fighting our insurance company to obtain coverage for off-label use. We would love to just purchase it but it's very expensive and our insurance has not wanted to cover it. Rowan doesn’t have time to wait for a study to start which could be months or longer, and there's a chance of a placebo.

It’s hard to determine how much of her behavioral frustrations are fueled by her lack of vision, but it has become very challenging to accomplish even normal outings like going to the grocery store or carrying on a conversation. She's always been incredibly intuitive, imaginative, and full of conversation. We miss her stories. We miss talking to our girl and really connecting. It still happens, but she has to work hard. She should be playing sports, participating in activities, and developing more of a feel for who she is, but instead she's slipping away from us each day. We can't even wrap our minds around what we're seeing.

Despite the changes, she’s in there and she's fighting. She's so frustrated. She needs this drug and prayers that it will work the way we believe to give us more time.

Her geneticist says that Rowan’s case is likely more progressive compared to other CLN3 kids because she has a deletion, so no activity on that gene versus a defect that provides some functional clearing of the protein accumulation. Sometimes kids first develop seizures and are diagnosed epileptic; others have blindness and no other symptoms until their late teens.

It’s hard to predict what the future holds and what her needs will be. The funds raised beyond what is needed for the medication will be used for her complex and lifelong medical needs. The prognosis is the worst imaginable. We didn't even know things like this existed - a girl with once completely normal, even advanced, neurodevelopment diagnosed with such a gruesome disease and to lose everything she's worked for; to have every single ability stripped away? I've thought about it for months and I can't fathom a worse diagnosis. We just don't know what happens next. We were told progression would be slower. We thought we would have more time.

We know of other families that are also fighting or have fought to get coverage and have succeeded. We do believe at this time that it’s the only thing that can make any difference for her prognosis, aside from a miracle from God. Please pray for our girl and please help and share if you can.

We are thankful to everyone who has prayed for her and been kind to her and our family including her team at her school, our families and friends, and people I have met online in similar situations who have tried to help us navigate this disease.

You wouldn't believe the battle we've been fighting for months now to try to slow this disease. Endless phone calls, dead ends, meetings, and appointments. We aren't done fighting for this girl. She deserves the entire world.

Every bit of progress that has been made on Rowan’s behalf up to this point has been through researching and making connections. 

We hope by sharing her story and our fight to help her get the medication, that we may continue to make pathways to a successful treatment for her and continue to make the most of every single day we have with her.

Thank you,

Jessica Dingledy

Rowan’s mama

Rowan also has a Fundraising account set up at Huntington Bank. You can go into any branch and make a donation under her name.

Venmo: @Jessica-Dingledy-Rowansfund

Next, I will share more details into her story, if you would like to learn more.

Our Journey to Diagnosis:

This is such an incredibly rare condition and is shocking news. I've had many confused looks as we've bumped into people we know over the last few months. They see the noticeable changes in Rowan and her white cane. I want to share the whole story below to help answer questions.

For years Rowan had sensory processing issues, which were borderline, almost quirky, and her pediatrician felt she would outgrow them. She would not tolerate any sort of diaper cream, sunscreen, or any new product she wasn't familiar with. She didn't like her hair touched and had clothing preferences, pretty typical of little kids. By age 3.5 her doctor agreed with my growing concerns and sent a referral to First Steps. We didn't qualify because she was over age 3, so we had to set up an evaluation within the medical community. Every place I checked had at least a 9-month or more waitlist! Finally, the week of Rowan's appointment came and it was March 2020, the week Covid shut the world down. For a long time, they weren't rescheduling and then when they did - another lengthy 9-month wait. The experience was beyond frustrating when we just wanted to know what was happening and find services for her.

Summer 2021, we decided to pay out of pocket for weekly occupational therapy to help with some of her sensory challenges. Her OT was the first to highlight that Rowan didn't seem to see anything in her lower field of vision. We had noticed she seemed to not see things at times, but thought it was inattention or a normal issue with vision that would be addressed as she started school; it started very insignificantly.

We also noticed an increase in behavioral changes and I had grown to suspect regressive autism, auditory processing disorder, and others, and not just sensory processing disorder. I had also been pregnant with her little brother so thought some of these could be adjusting to a different family dynamic. Something was going on and we were worried. It just seemed like she was “harder to reach” when she was melting down to bring her back to her happy self.

This just wasn’t the Rowan we knew. Alarm bells were ringing, so we went to an ophthalmologist for additional testing. That doctor waved his hands in the air and said “kids like these,” and I said "kids like what?" He said, "kids with autism just do not see well sometimes and we don’t know why." I said, "wait, I said we were pursuing testing to see what was going on and I had suspected autism -- she has not been diagnosed. She's always had great vision and many of these behavioral changes are very recent and unlike her." He said we should come back in three months to try a test called an ERG, which is a test to see how the retina is functioning. I voiced concerns that it could be a tumor. I requested an MRI and a referral to a neuro-ophthalmologist in Cincy that specialized in cortical visual impairment, another suspicion of mine. When your kid has something going on and you aren’t getting anywhere how can you not turn to Google for potential diagnoses? Who can wait THREE months? I worried every second of the day. There was so much advocacy to get these things and to get in promptly. Every bit of it was a fight.

The MRI came back clear. We were SO thankful. What could be worse than a brain tumor? Over the next few weeks, more vision changes and one night Rowan was walking across the room with her hands straight out in front of her (like she was blind) in our bedroom which only had a side lamp turned on. It sent shock waves through me. I couldn’t sleep. The next day, I called that ophthalmologist's office and they weren’t taking us seriously. I called the neuro-ophthalmology office that we were scheduled to see in a few weeks in Cincy and explained these behaviors. She said she suggested we be seen within the next 1-2 days either in Indy, or she could get us in with another ophthalmologist in Cincy that afternoon. I had been on my way to work but I turned back around and went to pick up Rowan from school and we made the 2-hour drive. I was concerned it was pressure related, like glaucoma, and if left untreated would lead to blindness, or another emergent issue. That doctor saw the first changes visible in testing on her retina and suggested retinitis pigmentosa. He said they were minimal and he wouldn’t normally suggest it except that she has these symptoms and I've gotten no answers anywhere else. He reached to the neuro-ophth’s office and got our appointment moved up.

At that point, I left that office and have just been informed that our daughter would likely be blind. I was familiar with retinitis pigmentosa. I knew it was serious when he spent 45 minutes talking to me on a “work-in” appointment.

Rowan has always struggled with doctor visits so I have always taken her alone as that seems to work best. I left that office in shock. How do I tell Eric she's going blind? Blindness in children is so rare. How many times have you seen a child with a white cane? Ever? I couldn't begin to comprehend the ramifications of a diagnosis like this.

Before we got back on the road to Indy we went to a park that had a zipline. My girl is an adventurer! After a three-hour appointment, she needed to get the wiggles out. It had rained and while standing in line again for the zipline, we overheard the kids in front of us talking about this beautiful rainbow before us. I had hoped she wouldn't hear. Rowan, who had big, dilated eyes and decreasing vision said quietly to herself, “I want to see the rainbow.” My heart shattered.

The realization hit me of the many things my child won't get to see in her life. Every element of her life was going to change when she had been perfectly sighted. It's enraging. Over the next few weeks, our family grieved Rowan's loss of sight and its implications for the rest of her life. I was so heartbroken she wouldn't get the chance to drive, to see the faces of her babies, to see the world. We always talked about the color of the car she was going to have and what she was going to name her babies when she grew up. We rely so heavily on our sight, our most precious sense.

The next appointment was with neuro-ophthalmology at Cincy Children’s and there Rowan did amazing – how many people can get through multiple three-hour long eye appointments? There, Dr. Shah, with his more advanced imaging, found significant changes on her retina and ordered a genetics panel. At this time we were praying to be in the 1% of patients who have a treatable form of retinitis pigmentosa. I researched endlessly over the next two weeks, joined groups for low-vision or blind kids, and threw myself into learning how we can best prepare her for the world with no vision.

There are no words to explain what happened next. I was at work and checked the status of the genetics panel. Her results were back! At this point, nothing further than blindness was on my radar. I was naively hoping she was in this miraculous 1% of treatable patients. I immediately sent a text to the doctor’s text line requesting him to just forward me the results and I would “google” them myself since we were in Indy. He called me 2 minutes later. He said Rowan’s test came back with a result and that it had a "neurologic component." He starts talking a bunch of words that I wasn't understanding (neuronal ceroid lipofuscinosis). I said wait, does this have a name? He said CLN3 Batten disease. I google it as I'm on the phone. The first thing that popped up with the word FATAL, in bold. I said wait, this says fatal. He said yes, that’s the neurological component, vision loss is the first symptom but it is neurodegenerative. FATAL. Not my sweet baby. We talked for probably 15 more minutes, me in complete disbelief. I had to go tell Eric. This hadn’t even been a possibility for us. There are no words to explain how Eric and I began to process this information, we are still processing.

We then had to give the news to our families and several close friends who were aware of the testing and were also anxious for the results. One devastating, life-altering conversation after another, we slowly let people into our world. It's so hard to break the hearts of those who love her. Since then we reach new levels of heartbreak as we see her becoming more challenged each month.

We are still in disbelief. I wake up every day and it just hits me over...and over.... and over. This has happened to our sweet girl. Our son Parker lives in a world where he will watch his big sister decline. Sometimes we're doing something so normal and I completely forget this is our life and then it hits us. Our lives are forever altered, we are no longer living the same trajectory. Do you know how quickly everything in life becomes laughingly trivial when your child is terminally ill?

We have a wonderful geneticist at Riley. She has been our quarterback through this process as we try to obtain coverage for this drug and helping to address many different needs across a variety of specialties. I am thankful in a time when our world is falling apart that she has been pushing for coverage and helping Rowan in other ways. We have two neurologists also on the team advocating for drug coverage. I've reached out to agencies that offer support, have considered checking into any legal options, if any, we may have, etc. We are exhausting all efforts to help Rowan and to raise funds for her current and future complex medical needs.

If you have any connections in the world that might help either now or in her future, please message me. As I said, every bit of progress that has been made on Rowan’s behalf up to this point has been through researching and making connections. We hope that by sharing her story publicly that we may continue to make pathways to successful treatment and to make the best possible days for her.

Thank you,

Jessica Dingledy

Rowan’s mama

[email redacted]

More photos of my adventure girl: