Therapies

Anne Thompson Heller shares her daughter’s journey with CVI

This was incredibly hard for me to write. It wasn’t difficult because it felt too personal, or because of strong emotions, grief, or memories that came up as I reflected on our experience, but rather, the difficulty in writing about our experience with cortical visual impairment (CVI) seemed to parallel the difficulty we’ve had navigating it. Einstein described my experience with CVI when he said “the more I know, the more I realize how much I don’t know,” which has often felt overwhelming. 

What I do know is that Cortical or Cerebral Visual Impairment (CVI) is a brain based visual impairment caused by head injury, lack of oxygen or blood supply to the brian, hydrocephalus, infection, and certain genetic conditions that damage the visual pathways or processing areas of the brain (National Institute of Health, 2023). We see with our eyes and with our brain and damage to the vision regions of the brain can impact what and how a person sees. Someone with CVI may see best in certain visual fields (upper, lower, left, right, midline, etc.), they may be able to recognize certain colors or objects, they may or may not struggle with dimensions, faces and facial recognition, and lights or movement may result in different degrees of visual attention (CVI NOW, 2024). This is by no means a comprehensive description – just one Mom’s understanding and it perhaps scratches the surface of what some with CVI may experience.

Our daughter, Jordan, is three years old. She has an undiagnosed developmental and epileptic encephalopathy (DEE), which for her includes refractory epilepsy and physical and cognitive disabilities, including CVI. Prior to the onset of her DEE at three months old, we had no concerns with her vision. She was visually tracking objects, making eye contact, and responding to me visually. I’ll never forget the morning when I looked over at her in her bassinet and she looked right at me and smiled. That was one of the first and one of the last times I ever experienced that with her. It was soon after her vision changed and she stopped tracking objects, looking at people, or giving any indication she could see at all.

For me, Jordan’s CVI diagnosis has been a particular sore spot. Because she experiences so many challenges with seizures and other disabilities, this diagnosis has, at times, felt like adding “insult to injury.” One of her providers recently said “we don’t know how much Jordan sees, but we suspect it may be less than we think.” I agreed. Jordan’s CVI is severe and has made learning for her more difficult all around. So much of our learning is processed visually through observation, and with her visual impairment she lacks opportunities for those “incidental life lessons” that occur through observation (CVI Now, 2024;The Cooper Institute, 2024). Jordan didn’t learn to eat solid foods until she was close to two years old  – she wasn’t observing us as we ate, and she needed non-visual learning strategies to help her understand what to do when food was brought to her mouth. CVI continues to impact her learning and daily functioning in many other ways as well. I have watched her reach in the air trying to find a switch toy that she knows is in front of her. I watch her feel for things rather than look at them. She doesn’t show much visual curiosity for her environment but will stop and take pause when she hears something of interest or when she sees something light up around her. Her visual impairment has also made mobility more difficult. It has impacted her balance, her ability to know where she is in space, and limited her willingness to venture off to different rooms around the house. Jordan doesn’t walk, but we’ve recently noticed her scooting around the perimeter of her bedroom and our family room and I think she is working to try and get a “lay of the land.” I can’t be sure, but nevertheless – we will never be redecorating and I am okay with that! Go Jordan! 

I remember being told that CVI can improve. For some it can, but not for everyone and the degree of improvement varies (National Institute of Health, 2023). Jordan’s vision has improved, she can see lights, has shown some visual attention to objects in multiple visual fields, and has even demonstrated an ability to use an eye gaze AAC device – but what and how she sees and interprets from that device is still being explored. 

CVI is a challenge and it is different for every person. I can’t speak to anyone else’s experience, but for me as a parent of a child of multiple disabilities who is a complex learner, it requires an intentional focus and awareness to try and learn what and how our daughter sees, as well as to explore other ways that promote learning. I have felt a tremendous amount of pressure and responsibility to learn about her vision and how best to support her and it has been an emotional ride. There is so much outside of my control as her Mom, so I try and focus on what I can and try to give myself grace in the process. I have read books, asked questions, and attended the 2022 CVI Now Conference (which I highly recommend to those interested – the next one is in 2026). We were fortunate to connect with Perkins School for the Blind and have a full CVI evaluation. The CVI Now Website through Perkins has also been a tremendous and user friendly resource with practical guidance for making our environment more CVI friendly (which I have personally loved). Other resources I’ve found helpful have been Special Achievers, Everyday CVI, and of course – other parents! I heard it said that as CVI parents we are “forging our own paths with our children, to learn what they do or do not have in their ‘visual libraries,’ how best to expand that library, and to try and gage their ‘visual batteries’ to know when they’re visually fatigued.” We’ll keep forging forward and celebrate Jordan as she continues to write her own story.

DEE-P Connections, in association with DYNC1H1 Association, was excited to welcome Advocacy Abby, who assists families with medically complex children in navigating the complexities of grants and other funding sources. In this webinar, you will learn about how to find grants, guidance about how to be successful in winning grants and how to fundraise to cover costs associated with caring for a medically complex loved one. 

Check out the grant database Abby created here!

Be sure to visit our Resource Center to find many more resources aimed at supporting and empowering DEE caregivers.

Listen in as as we discuss sleep issues within the DEE and rare epilepsies community.

Written By Anne Thompson Heller, mom to 3yr old Jordan who lives with DEEs.

How many of our kids experience sleep challenges? From what I gather – many of them! For us, epilepsy and sleep have gone hand in hand from the beginning. In fact, Jordan’s excessive sleepiness at two months old was one of our first indications that something was wrong. It wasn’t long after her seizures reared their ugly head that sleep really went off the rails. Any recognition of day versus night seemed to disappear and for more than a year, her newborn-like sleep schedule became increasingly difficult for us to sustain. In addition, her wakeful nights, seizure activity, and sedating medications caused her to sleep the days away, which took an emotional toll.

For the longest time, the topic of sleep and sleep habits was an emotionally sensitive one for me. In addition to being personally exhausted, Jordan’s excessive daytime sleepiness was a smack in the face reminder of the seizure activity that was threatening her life and getting in the way of her development. While I saw other parents playing with their babies, engaging them, exposing them to new things, and watching them grow and develop – I was wishing mine would wake up. 

We brought up the topic of sleep at almost every medical appointment. It was believed that in time, she would adjust to her medications and hopefully by focusing on treating her seizures, she would experience better wake time during the day and sleep better at night. So for months we “waded the waters” hoping for improvement. While waiting, I did what so many of us do, I did my own research. 

Turns out, the relationship between sleep and epilepsy is well documented. It’s a reciprocal, multifaceted, and complex relationship. It is not at all uncommon for individuals with epilepsy to have sleep disorders, which can include sleep apneas, restless leg syndrome, insomnia, and parasomnias (when someone may seem to be alert but without awareness because the brain is only partially awake). For many, seizures occur during sleep and during sleep transitions. Sleep and sleep quality can also directly impact seizure control, as well as the frequency and severity of seizures, and in turn, those seizures further impact sleep quality. Not to mention, poor sleep quality is an associated risk for SUDEP (sudden unexpected death in epilepsy) (Moore, Carvalho, St Louis, & Brazil, 2021; Carotenuto, Parisi, Esposito, Cortese, & Elia, 2014).

The more I learned, the more important addressing Jordan’s sleep became. We advocated and pressed for more help and were referred to a sleep psychologist at our local children’s hospital. The sleep psychologist shared how sleep was a learned skill and explored a number of behavioral interventions we could use. Things like establishing a bedtime routine and limiting stimuli such as lights, music, sounds, etc. were all discussed. Since we were already doing all of the behavior strategies suggested, the sleep psychologist referred us for a sleep study. Jordan’s sleep study revealed she had central sleep apnea, a form of apnea in which her brain would delay, or restrict signals for her to breathe. She’d stop breathing and that would wake her up. I felt validated and terrified by those results and so grateful her response was to wake up! There are interventions worth trying, to address central apnea, such as the use of oxygen overnight, but for many, time and further development are needed. Thankfully Jordan did outgrow her central apnea a few months later, but that didn’t stop us from co-sleeping with her crib right next to the head of our bed for two and a half years. With Jordan’s seizures and central apnea and a realistic fear of SUDEP – I wanted her head right next to mine. I wanted to hear everything and be able to respond at a moment’s notice. 

Jordan is almost three and a half now. She’s been sleeping in her own room for about a year, has a consistent bedtime routine, and sleeps fairly well. But it took a lot and a long time to get to this place. Like refractory epilepsy, sleep problems have treatments that can be explored. Like refractory epilepsy, some treatments and interventions help and others just don’t. But also, like refractory epilepsy, knowledge can be a powerful tool to help reduce risks and promote safety. 

I read a research study in which the authors concluded that everyone with epilepsy would benefit from sleep evaluations as a standard of care due to the prevalence of co-occurring sleep disorders and epilepsy (Carotenuto, Parisi, Esposito, Cortese, & Elia, 2014). Yes! Why isn’t it a standard practice? Especially, when we know a better understanding of sleep and sleep quality can not only promote treatment of sleep related issues, but can directly impact seizure frequency and severity and address a risk factor for SUDEP?. 

Addressing sleep can impact the quality of life for those with epilepsy and their caregivers and we hope you can join us for our webinar all about SLEEP & DEES on August 22nd and 1pm EST to learn more. Register here!

This webinar is packed with great information, strategies, and tactics for traveling with a medically complex child.