This is the third part in a series of posts I’m writing leading up to Rare Disease Day on February 28th. Read Part One: Sensory Processing

Read Part Two: Communication

Thanks for following along!

While nursing Coral one day when she was 8 months old, I saw her body slightly stiffen and her eyes roll up and to the side.  My stomach dropped and my heart raced.  I was concerned.  Over the course of the next few days I saw these actions more frequently, including when she was sitting up.  In those situations, her head would drop for just a moment, before she would lift it back up.  

These movements were so slight, that it would have been easy to dismiss them.  It is only because I received Coral’s diagnosis of dup15q at 3 weeks old and knew to be on the lookout for infantile spasms (a rare epilepsy that manifests in part as what I described above), that I was able to take swift action.  Infantile spasms are an emergency.  They can be a devastating type of epilepsy to an infant’s brain.  For kids with dup15q, the emergence of infantile spasms is often what leads to their subsequent dup15q diagnosis.  For Coral, we had her dup15q diagnosis at such a young age, that we could act quickly to address her spasms (in a way having a head start).

A few months before Coral developed infantile spasms, I began researching epilepsy in dup15q and infantile spasms. Being the information gatherer I am, I wanted to know about the potential treatments and have an idea of what we might want to do. Typically, the treatment for IS is high dose steroids, which can be highly effective for some kids but obviously has a heavy side effect profile.

While the treatment Tom and I decided on for Coral was unconventional (CBD oil), it actually worked miraculously.  Infantile spasms often cluster in groups. Coral went from having over a hundred spasms a day to none after a few days of taking CBD oil.  It was truly a miracle that even her neurologists (who did not recommend this treatment approach) had to recognize as a shocking but incredible outcome.

I don’t share this to advocate for everyone to do the same as we did.  In fact, I share this to highlight some important aspects of epilepsy in dup15q.  Epilepsy pharmacological treatments that work for one child or adult with dup15q, may not work at all for another. The side effects of pharmaceuticals can also differ from person to person. While this can leave parents and caregivers in a bit of a quandary of what treatment to try, it is also a huge reason why the Dup15q Alliance is working tirelessly to support research and the formation of targeted treatments for dup15q. Simply put, those with dup15q need more options when it comes to how they can control epilepsy. For some, their seizures are still uncontrolled, despite trying countless different meds and other treatments. For others, the side effects of the meds are worse than the seizures themselves.

Over half of the people diagnosed with dup15q will have at least one seizure. Many will have far more. As a parent, there is no way to know how your child will be affected by epilepsy with dup15q. A child who has had no seizures can begin to have several seizures at any age, especially during puberty. Skills can be lost (walking, talking, eating and many others). And too many of our kids, young adults and adults lose their lives to SUDEP (sudden unexpected death of an epileptic person)— usually a large seizure at night. This can happen even in a child who doesn’t seem to be having many seizures.

Epilepsy in dup15q is the worst type of wild card. It brings terrible uncertainty and worry.

As one of the lead neurologists once told me in words I have paraphrased: Epilepsy is one of the million dollar questions in dup15q. Why do some kids have worse seizures than others, and why do some kids have no seizures at all?

We need to continue the drive for research and therapeutics focused on the unique genetic mechanisms behind epilepsy in dup15q.

Last week Coral was in the hospital for an EEG (a way to measure brainwaves and detect potential abnormalities). She had not had an EEG for over two years, and we wanted to make sure we weren’t missing any seizure activity. In the hospital I was surprised by the many emotions I felt—emotions from her early days in the NICU, the feelings of watching her have so many infantile spasms, and the weight of the unknown and variable outcomes of epilepsy in dup15q.  

It all can be extremely heavy for parents, caregivers and families (including siblings). After this last hospital stay, I found my center the way I have for the past 5 years. I tried to focus on the present— be grateful she is currently not having any seizures, hold onto faith and release any fear I have for her future.

The reality is that it’s not “if” she will have any more seizures but more realistically “when” seizures might return. How severe will they be? Will we find a treatment as quickly as we did last time?

No one knows the answers to these questions, but supporting the Dup15q Alliance in their efforts can make a real difference for Coral, other people with dup15q and the families that love them.

As Rare Disease Day quickly approaches, please consider supporting the Dup15q Alliance. Thank you!

(This is the second part of a series of posts leading up to Rare Disease Day on February 28th. I am covering different topics related to Coral and dup15q. Read part one here: Sensory Processing. Thanks for following along!)

On a recent Monday morning I walk into Coral’s room with her AAC device to get her out of bed for the day.  An AAC device is one way she communicates. It is a tablet with a program (Proloquo 2 Go is the one Coral uses) that has been individually programmed for her. She pushes a button (with words and a picture), and the device says the word/phrase. There are enough words for her to talk about any and (almost) everything one day, even in complete sentences if she chooses. 

I show her the device as I navigate into the “Chat” folder.  I say, “Good morning,” as I push the button “Good morning.”

I then say, “I love you,” using just my words. 

Before I can even use her device to say those same words, Coral quickly navigates into a folder and immediately tells me, “I love you.”

I pause and look again at her device screen to make sure I heard her correctly. At the top (where the words show up) is “I love you.”

I quickly respond (while hovering in a moment of pure bliss), “I love you, too, Coral.” 

The day Coral was diagnosed with dup15q at three weeks old when she was in the NICU, I returned to my room at the Ronald McDonald House and collapsed in tears. I was given some scientific research articles (all with medicalized viewpoints about dup15q). I recaIl reading in those articles about many kids being nonverbal. In that moment, having a nonverbal child felt like a true tragedy. The end of the world. How can my child live a meaningful life if she can’t speak with words? 

Fast forward 5.5 years and my views have changed completely. Coral communicates with us everyday in her own way. I now understand that she is not nonverbal (without words) but rather she is nonspoken.  Receptively, Coral understands so many things we say. She probably understands even more than we realize. She is a true multimodal communicator. She takes our hand to take us to the things she wants. She brings us her toys for help. She uses the sign “more.” She has spoken some words at different times—jump, more, good, purple, orange, green. But her primary form of communication is her AAC device.

With her device, Coral has access to communicate her wants and needs. Like any language learner, she is learning how to speak this way one day at a time.

She also has access to just babble on her AAC device—a way to finally say all of the words that she knows but that are very challenging for her to speak with words. This has been awesome to watch. Everyday she navigates through different folders to find her favorite words to say, “Surprise, surprise, sleepover, sleepover, sleepover, school holiday, school holiday.”  

I talk to her (using my words and her device) as she babbles. “You and Tate did have a sleepover last night. It’s not a school holiday today Coral.” (Coral actually loves school.)

She continues on, navigating into vehicles (another favorite topic of hers to talk about). She says, “Firetruck, firetruck, firetruck.”

“You do like firetrucks,” I comment. 

When I sit back and watch Coral navigate through the words, I see how she has learned where they are through location and repetition. The location never changes. Her drink button will always be in the food folder and then right center. Many of her favorite and most used words she can navigate to without looking because she knows the location.

She is incredible. She is smart. She is a determined, persistent communicator who enjoys learning the language of her AAC device. 

How far from the truth I was years ago (and how deeply flawed were my perceptions, stereotypes and expectations) when I lay there crying, thinking and questioning: If she can’t speak, she must not understand anything. If she doesn’t understand anything, how will we form a relationship with her and how will she be able do anything in her life? 

Now I always presume competence. It can’t be only on Coral to demonstrate (in the terms acceptable to the non-disabled world) what she knows or what she needs.  It’s on me (and the rest of society) to bend towards Coral—to step outside our comfortable and familiar forms of communication. We need to meet her where she’s at, to honor and respect her way of communicating by communicating WITH her on her AAC device. We need to be more present in the moment in order to identify her subtle (and not so subtle) signs of communication. 

Giving Coral access to communicate opens one door to help her to more fully participate in life—to live her authentic life. 

The other morning Tate and I went into her room. 

We both said, “Good morning,” in our words and on her device.

Coral then purposefully and clearly told us, “No.”

Tate’s eyes got huge and he broke into a small chuckle and smile, surprised by her decisive response to our morning greetings.

 I told her, “I’m sorry you aren’t having a good morning. I hope your day gets better.”

With 100 percent certainty Coral can and does communicate. All the time. And we will hear her, if we are open to truly listening.

Topic 1: Sensory Processing

(This is the first part of a series of posts leading up to Rare Disease Day on February 28^th.  I will cover different topics related to Coral and dup15q.  Thanks for following along!)

Coral needs to move everyday in certain ways. Meeting her sensory needs is as pivotal to her life as breathing is to all of us. It’s essential.  

Throughout the day, I watch Coral lean backwards in almost a complete back bend, move into down dog (seemingly resting her whole body weight just on her head), shake her head back and forth while looking upwards and turning in circles, crash into objects, lick things, put things in her mouth, or jump up and down.

Sometimes I do have to step in for Coral’s safety (at times her sensory needs appear to supersede safety awareness). But other times I just watch her move around in her own way.

Before Coral, I may have thought it was “strange” or “weird” to see a child or adult move in such large and unique ways, but now I see these movements as a part of Coral.  She seems to experience the sensory world in a very unique way.  These movements also tell us about what she may need in a day— more vestibular activities (swinging, spinning, sliding, jumping) or more opportunities for touch (playing with beans or rice).

Sensory processing differences are often a characteristic of autism and dup15q. People can be under sensitive and/or over sensitive to different sensory stimulus. This manifests in different ways, depending on the person.

For Coral, she often seeks certain sensory input related to movement, balance (her vestibular system), touch (deep squeezes), sound (musical tunes) and moving objects (she holds items very close to her eye to watch them spin).  She can hum a new tune with better pitch than I could ever dream. 

At the same time, other sensory input can be completely overwhelming and lead to a meltdown— the sound of a spoon against a glass bowl, crowded locations with a lot of noise (not musical), haircuts, cutting her fingernails, brushing her teeth, sometimes the sound of the bathtub filling with water, sudden laughter, or her little brother’s cries. The amount of overwhelm these (and other sensory stimulus) create can vary from day to day. Also, the cause of her sensory meltdowns can and do change.

Coral’s sensory experience is different from mine. As such, I have found it helpful to listen to autistic people explain their experiences during a sensory meltdown. (See the link in the bio to a great article where autistics share their experiences.)

Learning more about sensory processing differences allows me to view Coral’s neurodiversity with more empathy.  It helps me to better understand what she may need to fully access the world around her.

It also helps me to remember Kim Barthel’s (an occupational therapist’s) words, “Put my mind in the mind of the person in front of me.”

It’s not Coral.  The problem is in the world’s rigid, narrow expectations for how Coral should move, think and speak, and the barriers to access that result from such rigidity.

It’s long past time for the world to become a more flexible and accessible place for Coral and the neurodiverse population.