Welcome to my world!

Welcome to my blog! I am Danielle Boyce, data engineer, software developer, researcher, and mom of four, including 14-year-old Charlie. Charlie had a severe form epilepsy called infantile spasms , and now has Lennox-Gastaut syndrome, intellectual and developmental disabilities, and autism. He has had two brain surgeries to collectively remove much of the right side of his brain. I also happen to have a Master’s in Public Health with a concentration in epidemiology and a Doctorate in Public Administration. I am on faculty at three academic institutions and consulted for many other organizations along the way. I also wrote a children’s book called Charlie’s Teacher, which is written from the perspective of a sibling of a child with special needs. I travel the country speaking to families and neurology professionals about the importance of including the patient and caregiver perspective in everything we do. My goal is to share high-quality resources and advice that I have collected from a variety of patient communities throughout my personal journey — all with a sense of humor.

How to be more patient-centric in your research activities

As both a researcher and Charlie’s mom, I am often asked by research teams to help them develop more “patient-centered” research protocols, programs, and advisory groups. A lot of funders are including requirements for the applicant to state how they are working with the patient community. To be clear, I am not referencing any particular funder or activity. Here is some of my best advice. I would love your thoughts and questions and for other advocates to weigh in as well!

Let me start by saying that as a veteran advocate, I don’t really care for “patient-centered,” “patient engagement,” “stakeholder engagement,” or almost any new and buzzy descriptor attempting to upgrade those phrases to make them more inclusive or sound fresher and cooler. I am cynical about this because of the very issues I describe below. I have been tricked into being on “patient-centered” advisory boards only to sit, silenced, at the patient advocate version of the “kid’s table,” while the “grown up” scientists did all the talking. However, a common language facilitates communication, so I use those terms, too. I will use other terms if people ask me to change the words I use, within reason, if it means a lot to them. I think words do matter, maybe not as much to me as they do to others. For example, I changed the name of my blog to remove reference to “special needs” because people told me that it bothered them. Note: I tend to use “patient,” “caregiver,” and “person with lived experience (PWLE)” interchangeably when I write, for efficiency, but they are not interchangeable; I personally prefer PWLE.

But I digress.

For researchers

On the philosophical side, the number one thing you can do to set yourself up for success is to believe, deep down in your soul, that people with lived experience can be true partners in your research endeavors. If you don’t believe that, no matter how many buzz words you use in your application, if the funder is truly serious about patient centered research designs, it will negatively impact your score.

I have plenty of researcher friends who do not get this. Their mistake is in thinking that the great advice that I give them comes from being a researcher AND a mom, and they could not get this from just any parent of a child with a rare disease.

But here’s the thing: my best advice almost never comes from my research training. It comes from something I learned from a more experienced parent thousands of miles away, who does not have a college degree, in the middle of the night in a Facebook group. It comes from years of taking care of a person with rare disease. From arguing with insurance companies, from fighting with the school district, from everything BUT what I do for a living.

I’m never going to convince them, but I still respect their work. If you don’t think PWLE can benefit your work, no hard feelings. Keep scrolling. If you do not believe this deep down, then you should step aside and let others handle the work that involves PWLE. Don’t try to retrofit your very un-patient-centered project for a patient-centered space because you see the dollar signs and/or prestige.

Enough touchy feely philosophical stuff. Let’s get down to business.

On the technical side, the number one thing that you can do to set yourself up for success is make a plan for capturing what outcomes that are important to the stakeholders in your disease area and what evidence gaps they want to see closed.

A big mistake researchers make is selecting outcomes that they assume everyone who is impacted by the diseases will be on board with, but never actually asking a PWLE for their opinion. Not only does this impact funding, but it also affects recruitment. A very good example that I use from my own life is seizure frequency as an outcome measure. Because my son sometimes has hundreds of seizures per month, putting a percentage on seizure reduction isn’t all that meaningful to me. There’s a lot of reasons for this, including the challenges with even accurately counting seizures, but suffice to say that a 25% reduction in seizures still leaves us with a lot of seizures. I’m not sure it would be worth it to me to go out and participate in a study for a 25% seizure reduction, given how difficult it is to get a child like my Charlie out of the house. What would be very meaningful to me would be improving his sleep, allowing us to have more seizure-free family outings, improving his ability to communicate, or reducing the number of rescue meds we need every month. To find this out, and dramatically improve your application, all you have to do is ask!

Do your homework before you apply. Don’t say that you plan to ask the patient community only after you are funded. You have to do this before you submit your funding proposal, because if you really are taking what the patient community is telling you seriously then there’s a chance your study design will change based on what you learn from them. You need to figure this out BEFORE you pitch the study design.

Just yesterday, I advised a group to plan for a simple qualitative study with questions about outcomes and gaps to be conducted during their annual family conference. This will be a quick IRB review and will give them a chance to capture important data long before the panic of a looming grant deadline.

There is no one size fits all patient engagement solution. It should be fit for purpose. Make sure you really understand your stakeholder groups. Hospital based community advisory committees are wonderful, but they are not the sole solution for every research protocol; you may need to add additional advisory teams to meet your needs. If the application is truly patient centered then just saying you’re going to run this by an existing patient advisory board made up of people who might not even have the disease you are researching is not enough. It means making sure there is a balance between patients, caregivers, patient advocacy organizations, and other stakeholders. It’s also important to be specific and diverse. If you are studying a specific variant or phenotype, you should try to identify people from that group as advisors. I am often asked to advise on epilepsy, which is great, but if your study is about the very specific type of epilepsy that my child does not have, you should also try to find someone with that specific condition. Likewise, neurotyical people with epilepsy who live independently are not always the best representatives of my perspectives.

Think about what happens to PWLE if your idea takes off. If your intervention is successful, but will cost a lot of money, or will be difficult to access for another reason, make sure you are identifying barriers to implementation and access, and include groups like insurance companies in your engagement plan. There is nothing less patient-centered than designing an intervention that only wealthy patients can afford.

Have a strong plan for how you are going to incorporate the stakeholder feedback into your project. I have been on every kind of panel of advisors imaginable and many of them have been just an FYI to me. I’m invited to a Zoom meeting, I’m going to watch some doctors talk about what they’re up to in the research project, and then, at the end, the first interaction I have is when I’m asked to post recruiting materials or a link to the manuscript which is behind a paywall and I can’t even read without special credentials. That is not cool, and I won’t return their call next time. There are a lot of great published frameworks for a good patient engagement, which I am happy to share.

Think about the lives of the people you are engaging with before you plan your activities. For example, I need a lot of notice in order to travel because I need to arrange for caregiving for Charlie. A lot of families live paycheck to paycheck because of catastrophic medical expenses. It is a lot to ask of them to pay for the travel expenses up front and reimburse them later.

For funders

If you’re really trying to say that you are patient centered, then you need to take the review process seriously:

You need to make this part of the application important to the overall score.

You should do your homework and use evidence-based engagement frameworks.

You must carefully select and train reviewers with lived experience.

You must give them time and space in live conversations so that the other reviewers don’t talk over them.

You must pay us the same as the “scientific” reviewers.

You should include us in scientific discussions, even if we are not reviewing the sections under discussion.

See my advice above about accommodating travel for people with lived experience.

You must keep an open mind and listen to them if they express that something is wrong with the review process, or they have deep concerns about an aspect of an application that nobody else picked up on. Recently, I pushed back on the review framework of a funder. To their credit they acknowledged that my input educated them, and they were wrong.

I know this is all a lot of work on top of what you’re trying to accomplish with the other aspects of your research, but I promise you that you will never regret including people with lived experience in your research projects!

The Three-Second Hug

This morning as I was walking alone in my neighborhood, a young man was walking ahead of me, with his father, arm in arm. I sensed that the young man had some sort of developmental disability, because they looked like Charlie and Jim walking, if Charlie was a teenager.

They stopped to look at something and I started to pass them. The young man turned toward me. I could see that he had Down syndrome. We both smiled. He said hello and I said hello back. His father had an all-too-familiar look on his face, a combination of fear that the stranger would not be kind to his child as well as fear that his child would do something to make the stranger uncomfortable. Of course, I instantly wanted to put them at ease and tell him about Charlie but that’s never an easy topic to bring up with a complete stranger, and I didn’t want to make the son feel self-conscious. It’s always so much easier to have those encounters when I actually have Charlie with me. So we just exchanged pleasantries and I kept walking.

Then the young man says from behind me, “I like your purse.” I stopped, turned around, and said, “Thank you! It’s from India.” At this point, the dad looks increasingly uncomfortable at the son’s insistence to stay and engage me in conversation, shifting his weight from leg to leg, looking around for an exit. I know that feeling very well.

The son said, “I love Indians!” I smiled, charmed, and said, “So do I! And I love Indian food too!”

He said “Do you love huggable Indians?” At which point his dad is totally stressed out, barking, “OK, OK!” to his son.

Then the son says, “Can I have a hug?”

I said, “Sure!”

Before I could open my arms, the father jumps in, clearly dying inside (but probably also wondering why this lady is not acting the least bit uncomfortable right now), and the father exclaims, “Three second hug! Three second hug!” This is also familiar to me. Charlie has several “catch phrases” that Team Charlie uses to redirect negative behaviors. One of our big ones is “Wait, wait, wait!”

The young man and I shared a three-second hug. To the father’s visible surprise, I followed the Hug Protocol without missing a beat: we all counted out loud during the hug: “One, two, THREE!”

It was a really good hug, and completely innocent and appropriate. He just wanted a hug from the nice lady with the beautiful, Indian purse.

I turned to his father, mustering all of the kindness that I possibly could with my eyes, and said, almost whispering, “My son gets help with learning how to give three-second hugs from The Arc.”

I could see a look of relief wash over him as I smiled and said goodbye.

What Do We Call These People?

by special guest editor, Peter Mike-Mayer, Entrepreneur in Residence, Partners Creating Community, Phoenixville, PA

What do we call a worker who shows up reliably to do a job; that they aren’t paid for, and whose merit is conditioned on their developmental, and/or mental health differences? In a conversation with a member of our board at PCC, I antagonistically said, “I call them people.” I knew that he didn’t need my sass, but it’s hard for me to resist.

In different times, and places, I’ve heard many different names used to describe an unpaid worker; a person with a disability, who aims to find a meaningful way to contribute to their community; villagers, companions, clients, members …etc.

I use the term “Contributors,” for people, in the hopes of speaking directly to the motivation of the archetypical human being. Each of us hopes to balance a desire for personal impact, and the market-based compensation that subsequently values our skills, and gifts. Perhaps, we are mostly here to give of ourselves, and to make a difference.

The lion’s share of people with disabilities aren’t going to have a competitive edge in their field, nor will they be guaranteed the same proportion of opportunities afforded to “normative” people; to learn, fail, and grow, and ultimately develop as human beings.

Perhaps it’s too obvious, but to be noticed, to have a voice and be heard, to have a sense of belonging, there must be opportunities available to every human being to contribute to society, especially those with a disability.

A person with autism, down syndrome, or another developmental difference and/or mental health challenge, will never successfully compete in this market without an opportunity to be seen in their striving to offer their gifts to the world.

It’s a tricky spot, where people have to exist in a competitive marketplace; be unpaid, in order to develop as a human being. We have to take a leap of faith in the human being, vulnerable in a cut-throat world, looking for a way to contribute their gifts, and find their unique purpose on the planet:

Each one of us has a desire to be part of something bigger than ourselves, and to leave behind something worth remembering.

Heart Stone Coffee Contributors Tim Arnold & Betsy Ney

Peter Mike-Mayer

Has been creating opportunities for people with disabilities to share their gifts for the past six years. He has been developing his skills in non-profit leadership and group facilitation, as he challenges the position of people with disabilities and (or) mental health challenges in society.

Please Hold

If I didn’t have to call the insurance company today
I would push Charlie’s wheelchair all the way to the creek
Walk along the water
His arms outstretched
Feeling the breeze
Feeding the ducks
A smile
A seizure
But only a small one today

If I didn’t have to reorder the clobazam today
I would take Charlie to the library
Let him take the jackets off all of the books
And line them all up side by side
A giant among the toddlers
Some of the moms would smile
Others fearful that
Intellectual disability is contagious
Which it isn’t
Only ignorance

If I didn’t have to schedule his therapies today
I would take Charlie to the pool
Watch him splash for three hours straight
In a life vest
On his back like a turtle
Laughing so much my face hurts
Ignoring all stares
Pure joy

If I didn’t have to call about the external review today
I would design a study
That demonstrates the cost-effectiveness
Of computerizing all of these tasks
So that I can do them anytime, anywhere
And does not require a call
I can do it after his seizure has finished at midnight
And I am stuck awake with adrenaline
I would welcome that distraction

But I can’t do any of those things today
Because I’m the parent or guardian of Charles
And they are a patient-centered company.

Letter to the mother of a newly diagnosed child

Dear Friend,

I read your e-mail in the middle of the night, awake with Charlie and Nash. Charlie gets his days and nights mixed up, sometimes due to a seizure, sometimes just because he’s Charlie, and wakes up the whole house in his special, silly way.

My heart sank to read all that you’ve been through with your pregnancy and the baby. I can relate to so much of it. I know your grief and despair. What a thing this is, an unspeakable, agonizing, all-consuming pain. The weight of the world is on you, added to that your work situation, and it seems like it will never, ever, end. Unrelenting and cruel.

What could any of us have ever done to deserve this? Or prepare for this?

You are using mental and emotional muscles you never knew you had, and it makes you ache all over, all the time. I have heard myself make noises in the midst of my grief that I imagine only dying animals make. I have felt myself crack down the middle. I have said things to hospital workers that I never, ever imagined I would say. I have fallen to my knees, sobbing and praying in front of strangers.

But something happens after a while. Eventually, it becomes a part of you, part of the fabric of who you are, and you will do things, good things, strong things you never thought possible. I am sure that this is already true for you in small ways, but you have so much better in store for you. Getting up at 3 AM with a seizing child has become something I can do while reading an e-mail from a friend in need, tending to an infant, and thinking about our future with hope and optimism. This will be your life one day, too. You will feel normal again, a “new normal,” but it won’t be as difficult as it is now. And you will always mark time with this event. Before Charlie. After Charlie.

I know the “if only” game very well, and it will always be with you. In time, you will find purpose and some semblance of meaning in this tragedy, and that will slowly edge out some of the guilt and remorse.

As you said, you have a new life. You are now, and forever, changed. Changed was not my goal. ‘Changed’ is too small of a word for what this does to you. For me, transformation, not change, was the goal. Let the transformation take you over, as if to stand in a wind tunnel, as if to conjure fire, and let go of anything about you, any pride, vanity, insecurities, people, anything that stands between you and every bit of help and support that you need. Don’t let anything get in the way of this transforming you into the best version of yourself that you can be. For me, once I let my guard down and allowed people to see me when I was vulnerable, when I wasn’t in control, when my house was a mess and I didn’t look good, the whole world opened up. Find whatever that is for you and confront it first. Do this quickly, as you will wish you had done it sooner.

You have earned the right to be exactly who you need to be to survive this, and, from now on, no one can deny you that. They don’t get to judge you, they don’t get to second-guess you. Find the power in that. Only you are that baby’s mother. Only you have endured this war, battle after battle. Like any other hero, you are now untouchable. This confidence will carry you when nothing else does.

This is the defining moment in your life story. It might not feel like it on the inside, but you are handling it with poise and grace. You are making excellent, rational decisions despite your unbearable grief and exhaustion. You are doing everything right. You are asking the right questions. You will have no regrets about this period of your life, as you have risen to the occasion and met this challenge like the excellent mother that you are.

You are proving yourself to be the woman you always hoped you would be.

As hard as it is to have your life hijacked by a child’s catastrophic illness, the silver lining is, there is an ENORMOUS network of moms and dads just like us who know EXACTLY how we feel and, like me, live to help each other in times of need. The world is about to get so much warmer and more understandable. Just you wait and see.

I AM VERY, VERY PROUD OF YOU!

Someday, at 3 AM, while reading an e-mail from another mother in need, you will look back at yourself with pride and wonder, just as I did last night.

You are loved and admired,

Danielle

Pediatric Neurology Waiting Room

We’re in the big waiting room of the neurology outpatient center.

Welcome to Neurology and Neurosurgery

I imagine high school interns made the bulletin boards for a service project. No amount of glitter letters from the Oriental Trading Company is going to cheer this place up.

It’s only 9:30 but the place is already packed. I forgot my breast pump in the car. Shoot. Jim has already driven away with the other kids. Just realizing I am without it, I feel engorged. One more thing. One more thing.

No time for that now, I have to check in. Last night while half-watching 60 Minutes I suspiciously printed out the QR code receipt for pre-check-in. “Simply present this at the kiosk to confirm your arrival.” How did I know that wouldn’t work the way it was supposed to? The desk staff, as usual, are sweet and courteous, but don’t know a damn thing about the kiosk, and I can tell that their morale is low because of it. I don’t blame them for being resentful of how these machines were installed without warning, so now they are forced to train customers on their mechanical replacements.

Charlie starts to squawk. I am afraid he is going to make a scene. I say quietly, to myself, what kind of genius came up with this kiosk thing?

I text Channell where we are, what to say to the guard to let her up, what to say to the desk in case we are in an exam room when she arrives.

Charlie’s neurosurgeon walks by in scrubs, but he doesn’t see us. A wave of anxiety washes over me. Again.

PTSD.

We are called back for vitals.

Ten minutes later, Channell arrives. I catch myself sending a split-second prayer of gratitude out to the universe for giving me the good fortune of finding a behavioral support person, and friend, like Channell. She is radiant as always, looking like a cross between Mary J Blige and Michelle Obama, her skin glowing like an airbrushed magazine cover, her clothes comfortable, trendy, stylish, and confident. Without saying a word, she pulls out her phone, loads up Rocket Speller, and hands it to the screaming Charlie. He is angry that the guest Wi-Fi at the hospital is slow, and he can’t get the show he wants on his Kindle. Channell and I know this without being told, because Charlie doesn’t remember how to tell us… He greedily grabs the phone and stops screaming.

I look up, and three little girls are sitting in the kid chairs in front of the TV, taking a break from chatting to stare at Charlie. The stares come so frequently I rarely even notice them anymore, and don’t care. I wonder what’s wrong with them, or if they are here with a sibling.

People wonder how I can be so comfortable sharing my life in my speeches, blog and social media. Every day, I am forced to share my most intimate, private, and often humiliating moments in front of the whole world. I submit my tax returns to case workers when I apply for medical assistance, I let a steady stream of Charlie’s therapists, case managers, home health aides and nurse supervisors into my messy home each week. My genetic testing results are blasted all over the world for research studies. I am usually covered in one or more of Charlie’s body fluids, managing a sudden deluge of urine or nosebleed with a good-natured smile. I have lost all sense of privacy. When you have a child with profound and obvious disabilities, there is no grieving in private. Everyone can see exactly what you are grieving about, and how you are handling it, everywhere you go. Like being followed by the paparazzi of personal tragedy.

Another little girl, about two years old and impeccably dressed, sits down at the tiny and colorfully painted table and chairs. I look up to her mother and can see that this child is her pride and joy. Rightfully so. The girl’s eyes squint and she is a little unsteady on her feet. She has the unmistakable signs of a child whose morning meds just kicked in. I know that look all too well.

I realize that I’m staring at her, and I wonder if her mother is still at that phase where the stares bother her. I am making it worse. Channell and I both comment on how much we love the little girl’s sparkly shoes. I project all the kindness, softness, and humanity I possibly can to her mother through my smile and gaze.

“You missed vital signs,” I say to Channell, widening my eyes, trying to force levity in my voice, but I am stretching it, and she knows it.

“Oh boy, how did that go?”

“He ripped the head circumference tape measure in half, wouldn’t do height, and waved bye-bye to the blood pressure cuff. But she did get his weight. Not bad.”

She goes along with my decision to pretend I have accepted this as my life, that I am impossibly strong, that I am “giving it to God,” or some other optimistic philosophy that I really want to believe but we both know is complete BS on days like today. She smiles wearily and looks down at Charlie, the love all over her face. “Oh Charles, my Charles.”

We look around absentmindedly, grateful for a break in caregiving, however brief.

A father is walking his son “around the block” of the waiting room. If I had to guess I’d say the son is about nine. His gait is off, he seems frail and he has that thing, that aura that’s always so obvious but difficult to put my finger on…he seems to have some sort of cognitive impairment.

I am no better than the other nosy spectators.

They decide to take a break and sit down by his mother. He has a blue Convaid transport chair just like Charlie’s, only newer. I want to commiserate, to ask his mom if she had to go through the rigmarole with the Seating Clinic trying to get that thing approved. The Seating Clinic pretends to be about customized equipment and individualized service, but everybody gets one of the same three chairs, no baskets or other frills unless you need to carry something like oxygen, because insurance won’t pay unless you can prove there’s a medical reason to need a basket. But we are all grateful to tears when we finally receive it. Or maybe just relieved that the tedious process of procuring it is over.

I wonder if the boy, like Charlie, was always this way, or if something catastrophic happened to him as a normally-developing child. I wonder if he has epilepsy like Charlie or something else, like a neuromuscular disease. I wonder if it is degenerative, and if it is, if his parents are also getting the, “You never know, don’t lose hope, one step at a time, we just don’t know, he’s looking really great” line from the doctors.

His parents are also looking around at the other parents, at me and at each other. It’s obvious to me that we are all wondering how we got here. We have a vague look of shock, like we just stepped out of the rubble of a building bombed in a terrorist attack. One minute we were normal moms, shopping at King of Prussia mall and doing Zumba in the church basement. The next…we were in a Facebook group typing words like ‘prognosis’ and ‘epileptologist’ to other parents whose kids have the same catastrophic illness.

The stress of that morning, that year, that decade is written across our weary faces. This morning alone: packing the diaper bag, the feeding supplies, the special cups, the emergency meds, the insurance cards, pre-registering, loading equipment, rehearsing our questions, communicating our schedule with the home health staff, taking off of work, getting them in and out of the car…

My eyes settle on a teenage girl in a wheelchair, talking to her mother, but not in complete sentences. I feel a pang of jealously that they can communicate at all, then realize how wrong it is to compare when clearly our lives, at least today, suck equally.

For some reason, my mind drifts to the time a few years ago that I worked at this very hospital. I was behind the scenes in the offices in the back, and there were doctors and nurses there who didn’t know my personal connection to this world. It was clinic day, and the clinicians were discussing the patients that they were about to see.

“…he was here through the ER six months ago, had an MRI, some inflammation but not enough to cause—“

–“Yup, yup. All negative, but he is very fair-skinned, fair eyes, fair hair and he is a FLK, so he has something”

“What’s a FLK?” I ask, innocently.

“Funny looking kid.”

I would be forced to quit working there because I didn’t have enough vacation days saved up to cover Charlie’s second brain surgery, which took place at that hospital. The irony. Probably just as well.

I watch the doctors and nurses walk by, trying not to make eye contact, glancing at us on occasion, then quickly back down at their clipboards and phones.

I wonder if Charlie is an FLK.

I absorb the energy of sleepless nights and unspeakable choices, broken marriages and ruined careers, a laser beam of doom pointed directly at our lives. A piano over our heads.

The nurse calls us back. I recognize her from when she took care of Charlie in the hospital. I am awash in gratitude and memories.

After the appointment, I check my phone. Jim is in parking level A1. He has both my breast pump and the baby. Redundant, I am thinking.

He has talk radio playing in the car.

They are talking about Trumpcare.

Parents Changing The World: Les Rogers and the 1915 K Plan Waiver

I am often complimented by people outside of the pediatric neurology world for what is perceived to be my “rare” dedication and commitment to advocacy, and my ability to combine the personal and professional for the greater good. My response is always, “If you think I’m cool, you should meet my friends!” I have met hundreds of brilliant activist-parents along the way, parents who blow my accomplishments out of the water, parents who inspire and educate me every day. I am fortunate to have many of these parents as part of my group, Neurology Parent Professionals. This section of the blog will be dedicated to featuring those parents’ favorite projects, in their own words.

I would like you to meet Les Rogers. Les is a man of many talents, including a professional educator, a public policy expert, and an exceptional father. I met Les in the infantile spasms parent support groups. Les is always able to provide terrific advice, especially when it comes to health care financing. He often mentions something called the “K Plan.” One day, I asked Les to tell me more. I was so impressed with his work in Oregon that I immediately knew that he needed to tell YOU more, too. A special thank you to Les for sharing with us!

Without further ado, I am honored to share his story and expertise with you, in his own words:

The 1915 K Plan Waiver in Oregon: The Best Thing to Happen to Disability Services in a Long Time

Truly Providing the Supports Families of Special Needs Children Require to Thrive

“The true measure of any society can be found in how it treats its most vulnerable members”-Ghandi

April 2017

By: Leslie Rogers

What are Medicaid Waivers and What is the 1915 K Waiver/K Plan in Oregon?

Medicaid waivers are programs that provide supports and services needed to people that would otherwise be in an institution, nursing home, or hospital to receive long-term care in the community (The History of Waivers). The 1915 K waiver is known as the Community First Choice Options, with the goal of keeping people in their community and not in an institutional setting. Serving people in the community is by far the least expensive option and why this program was created. Prior to 1991 the Federal Government only paid for services if a person was in an institution (MedicaidWaiver.org). The K Plan was born of the need to fulfill broken promises to the disability community over many years. In Oregon, Institutions were shut down without sufficient diversion of funds to Home and Community Based Services to meet the needs of individuals attempting to reintegrate into society (Erasing Fairviews Horrors). This led to a system that could only provide for families in crisis in Oregon, which was cruel and did not support families until nearly all hope was lost.

I will focus on how Oregon implemented the K Plan since that is my experience. The overall system of Medicaid waivers operates under rules from the Centers for Medicare and Medicaid Services (CMS). The system in Oregon is a Community based system with a significant preference for less expensive supported in home living and a collection of group homes, foster placements, and some emergency placement facility options. This system also serves all ages that experience a qualifying level of need. In fact far more adults are on the K plan in Oregon than children, which is often forgotten in much of the literature that focuses on children on the 1915 K waiver.

What Services Are Provided?

The K plan in Oregon is a unique approach to providing services to families with special needs loved ones (Oregon K Plan Brochure).

Key Features of the Oregon System:

The anecdotal evidence is that the Oregon system has been much more expansive with its definition of what constitutes an institutional level of care. This has led to nearly every family that needs services getting qualified for services as opposed to the prior system of only serving those families in abject crises.

Key Features:

NO WAITLISTS by LAW: if you qualify you receive services. The state does have 90 days to evaluate the application, and there are Medicaid appeal rights etc.
Up to $5,000 worth of funding to provide things private insurance and Medicaid decline. Such as environmental modifications including lifts, changes for wheelchair accessibility etc.
No parental means testing: understanding that often the parents of special needs children are driven to bankruptcy at a far higher rate
Presumptive Medical: presumptive medical provides Medicaid as a tertiary payee (last in line payee) for those families of children with significant medical need. Keeps families from going through the cyclical bankruptcy cycle, and ending up on Medicaid anyway.

Services Provided:

Personal Service Worker Hours: These are hours of caregiver support designed to help individuals be included in the community
24 Hour Respite days
Children’s In Home Intensive Services for children with significant medical and/or behavioral problems
Training for families and caregivers such as delegations of medical tasks etc.
Behavior Therapists, and Applied Behavioral Analysis
Service Coordination
Case Management
Family to Family Networks

What States Have the K Plan?

Federal Community First Choice K Plan

Five states have the K plan implemented in the United States:

California
Maryland
Montana
Oregon
Texas

These five states account for nearly a quarter of the United States population among them. Every state’s implementation of the K plan has been a little different. I hope that parents from some of the other states that have implemented the K plan will read this article and write about their own experiences, and how the K plan has worked in their state.

The Rogers Family’s Experience with the K Plan

Our family was driven to the edge of bankruptcy following my child’s diagnosis of West Syndrome and nearly half year stay in a children’s hospital. The medical bills were piled a mile high. Not the least of which was caused by a drug company raising the price of her seizure drug from $40 a vial to $33,500 a vial, but that is a story for another time (Mallinckrodt Fine FTC Article). We were exceeding 1,000 explanations of benefits a year from our two insurance companies. It was a tsunami of work coordinating benefits and getting bills paid on top of caring for our child that many people face. It is the double tragedy of significant medical illness in our society first the medical tragedy, then the inevitable fights with insurance, and ultimately the bankruptcy cycle for many families (Sharpe and Baker, 2007). Following our release from the hospital after we finally got seizure cessation from West syndrome, our child had regressed to a newborn. Gloria is tube fed, suction dependent 24/7, and requires intense one-on-one care all day every day. We filed for Disability Services in our state, which is operated through the K plan. A case manager came and did an evaluation, and a few months later we received the results (they have 90 days to respond). Gloria’s level of need was bordering on 24 hour nursing care. She missed the Children’s Intensive In Home Services (CIIS) level of care by just a few points, We were awarded around 300 hours of care, presumptive medical, and began working on the environmental modifications needed to make our house wheelchair accessible. The presumptive medical helped us avoid bankruptcy. The Personal Service Worker hours of care have helped us keep Gloria supported in our home, and allowed us to provide night nursing so that my wife and I can continue to work and provide for all of Gloria’s uncovered needs that exceed what the K plan provides for. In short we were able to keep our family whole, keep our marriage, reduce the stressors and pressures, and continue to work and contribute to society.

We were saved when we received the K Plan, and we were able to keep Gloria in our home around December 2015. We scoured our area for a nurse looking for a night shift while we were waiting for the state to make a decision about Gloria’s enrollment and number of hours, and thankfully we found one and had her fill out the enrollment information to become a Personal Service Worker through the K Plan (this process has taken some of our workers two months). Thankfully we were all set and ready when the K Plan began, and we had enough hours to provide nursing for Gloria at night. This allowed us to continue to work, and begin to pay off the mountain of medical debts we had, and I could work providing money to cover Gloria’s medical equipment that was not covered. We also thankfully qualified for presumptive medical (which makes Medicaid a last payer up to our max out of pocket), which basically keeps parents of severely disabled children from going bankrupt, and losing everything over and over again (which has been my experience being around the disabled community my whole life). The K Plan saved my family and saved the state hundreds of thousands of dollars by keeping Gloria with her family at home and out of Skilled Nursing Facilities. That is the purpose of the K Plan.

How Do I Get the K Plan in My State?

My dream is that all families are supported like those in Oregon. We have a golden opportunity to advocate at the state and national level for the expansion nationwide of the K plan as a basis for the standards of support for families facing the challenges of caring for children and adults with special needs. Growing up with two adopted special needs siblings, and now caring for my daughter with Cerebral Palsy I know at a visceral level what life before the K plan was like for many families, and how so many families floundered and imploded without the supports that are needed to keep a family whole. Many children ended up in foster systems that could not find a placement for them, and languished in Institutions like Fairview in Oregon. With the K plan in Oregon those with special needs are being given an opportunity like never seen before in the United States. There is a chance for true community inclusion. I have presented to organizations like Rare Disease Legislative Advocates about the K plan to help garner national awareness of the transformative nature of K plan services in Oregon (RDLA K Plan Presentation-please utilize this resource to help advocate for the K Plan in your state). With your advocacy support coupled with organizations like the National Organization of Rare Disorders, and Rare Disease Legislative advocates we can strive to improve the standard of support for those needing services to be able to live full lives in their communities.

Resources

On Having Another Child

“Our results are in! We are having a healthy baby boy who is very low risk for any chromosomal abnormalities. Merry Christmas!”

The woman who posted this in my “Advanced Maternal Age” online support group had every right to be thrilled. After all, who wants to find out that their child will have disabilities? When you are over 35 (or, in my case, over 40), most insurance companies cover the costs of extra testing for chromosomal abnormalities, as the risk of these conditions increases with maternal age.

Day after day, I celebrate with my peers when they get the good news. I, too, had the testing done, and was relieved to hear that the chances were good on at least one diagnostic front that the new baby…well, that he wouldn’t be like Charlie.

Indeed, my first conversation with the high-risk OB was incredibly surreal from the perspective of a mother already raising a child with what many in the medical world have described as having a “catastrophic” medical condition. Jim and I sat across from the knowledgeable doctor, smiling and nodding as he reviewed flip charts about eggs and chromosomes and how age impacts our risk factors for abnormalities, and then outlined the types of testing that I could have and how early in the pregnancy that I could have it done.

I explained to the OB about Charlie, how all of the tests to determine the cause of his condition have been inconclusive, and that he is likely to function like a baby for the rest of his life. I told him that I was told that it was probably a fluke that he is like this, but that the reality is, we just don’t know. I shared that because of this unknown factor, I am a bit more anxious than the typical expectant mother, but as a woman of science, I find comfort in the lack of evidence that lightening will strike twice.

For the first time in his 20-minute canned speech, he stopped what he was doing and looked right at me. A softness came over his face and I could tell that he was trying his very best to be present with me. I imagined that he was thinking, “This one is not routine. I need to connect with this woman.”

I was offered a routine blood screening test that can detect common chromosomal abnormalities. If this test was positive, I would still need a confirmatory diagnostic test, which would probably be amniocentesis. The doctor explained that amniocentesis carried with it a small risk of miscarriage.

I have a background in reproductive epidemiology, so I already know a little about these things. I know that some common comorbidities associated with chromosomal abnormalities such as cardiac defects are sometimes detectable on high-quality ultrasounds during pregnancy. The detection can allow families to line up their medical team, and establish strong family and community support before the baby is even born. I know this because many children with Charlie’s condition, unlike Charlie, have detectable prenatal abnormalities, and I routinely discuss these issues with them.

I asked the doctor what would happen if the blood test was positive and I chose not to get the amniocentesis, for fear of the miscarriage risk. “Would we just assume that the baby has an abnormality and proceed with good ultrasounds, keeping a closer eye on the baby even if I don’t have amnio?”

For the second time, he looked up. He tripped over his words.

Speechless.

“Are you telling me that you would not terminate the pregnancy if you test positive?”

I hadn’t really thought of it in those terms, but I answered him with a question:

“From what I described to you about my son…it’s my understanding that kids with the conditions screened for in this test, specifically Trisomy 21…that, of course, there is a spectrum of outcomes, but that many of those kids can have really great lives…walking and talking and holding jobs and falling in love….outcomes that seem to me to be much better as far as functional level goes than what Charlie has. Am I correct about that?”

“Yes, that’s an accurate assessment.”

“Well then…I mean, Charlie is my sunshine. He’s my whole world. He has many limitations but he’s just delightful….I don’t feel afraid to have another baby with special needs. So, no…I guess my answer is no, I wouldn’t terminate if the test was positive.”

My position on this was a revelation to everyone present. I am vocally pro-choice. I don’t think that any woman should be compelled to have a baby, and for this reason, I am very glad for these tests. But, for me, I have faced many pregnant women’s worst fear: that something is wrong with the baby. And I have the wisdom, the hindsight to know, that, for me personally, my life with Charlie is beautiful, six years after receiving Charlie’s fateful diagnosis. There is nothing nightmarish about Charlie, although dealing with the school district and the insurance companies, THAT’S a NIGHTMARE. But I digress.

Of course, we have absolutely no way to detect spontaneous genetic mutations or other conditions not included in these screening tests. We had no idea when Charlie was born that he would be the way that he is. We thought Charlie was “normal” at birth, except for his prematurity.

We all roll the dice when we get pregnant, don’t we?

For me, this pregnancy experience has become a philosophical exercise of sorts, an unexpected critique of the pop culture phenomenon that pregnancy has become, the perceived entitlement not only to have a baby, but a HEALTHY pregnancy and HEALTHY baby and all of the activities surrounding the celebration of such entitlement. Of course, I and the thousands of other parents of children with special needs with whom I regularly interact will tell you that there is no such entitlement.

I see these entitlements everywhere in the culture that surrounds pregnancy:

babymoons

gender reveal parties

birthing plans

push presents

maternity photo shoots in the age of Pinterest

Let’s be clear: this is not an indictment of these practices, and indeed, I think it is lovely for pregnancy to be celebrated and elevated by our culture, for women to attempt to own and control their childbirth experience to every extent possible, avoiding unnecessary interventions and rejecting cultural practices that have no basis in science.

I love the idea of the ultrasound tech placing the top-secret results into an envelope, which is then given to a bakery, which then bakes the cake with blue or pink inside, and everyone finds out the baby’s sex at a big party when the cake is cut. That’s AWESOME.

I only mean to point out how these practices can serve as painful reminders to those of us who are white knuckling it through complicated pregnancies, or are simply superstitious that any normal expression of joy will jinx it somehow, as something bad always seems to happen to our babies. It also puts into context the crushing disappointment, the overwhelming feelings of unfairness and being unprepared for sadness that is experienced by parents upon their child’s diagnosis. The world tells us that everything about having a baby is supposed to be fun.

I was so focused on the ultrasound tech showing me that the baby’s brain was present in both hemispheres that I hadn’t considered entitlement to anything beyond that, let alone fantasizing about cutting the mysterious cake in front of a roomful of well-wishers.

Instead of a babymoon, we will be taking Charlie’s Make-a-Wish trip to a resort designed specifically for families of children with life-threatening diseases.

While others are planning fun activities for big siblings to participate in during mom’s hospital stay, our plan focuses heavily on training friends and relatives on how to administer Charlie’s dozen + pills per day, where to find his diapers, and reminders to keep the gates locked so he doesn’t wander off in the middle of the night.

Do you see what I mean?

Today, at the OB’s office, the nurse administered my weekly shot of progesterone that helps prevent me from going into preterm labor. When she was finished, I absentmindedly sang, “Allll done! (as my son would say).”

“Oh, how old is your son?” the nurse asked, innocently.

I realized, sheesh, I must sound like a toddler’s mom, not the mother of an almost seven-year-old whose speech is just starting to emerge.

“Oh, he’s almost seven, and he’s special, so that’s why we are being so careful this time…” I stumbled over my words.

And here she thought injecting a chatty 41-year-old in her butt was going to be the most awkward part of her day.

But so it goes when you are pregnant, and one of your other children has special needs.

The Ghost of Christmas Present: Enjoying the Holidays When Your Child Has Special Needs

Last week, I attended my “neurotypical” third grader’s Catholic school Christmas pageant. I attended alone because I had help to care for her brother at home, which allowed me to give her my undivided attention.

The pageant, which narrated the Nativity scene, was beautifully performed with costumes, singing, and spoken word. My daughter was a shepherd in the choir. I was proud of the homemade tea towel and twine head gear that I fashioned for her at the last minute, still recovering from a very busy month that included an IEP meeting, several medical appointments, and a four-day work conference out of town.

I was already having the most fabulous time and getting into the Christmas spirit when the little first graders, representing a choir of angels, filed in to perform Christmas carols. Adorned with tinsel headbands, I was smitten. So well-rehearsed, they followed the music teacher’s lead and sang, perfectly in unison, hymn after memorized hymn.

It was all so precious and delightful, and I was beaming with pride that my girl was a part of this heartfelt production, when suddenly….I was jolted to another reality: the Ghost of Christmas Present had arrived.

CHARLIE should be singing with tinsel on his head.

Charlie is the same age as the tinsel-adorned first graders, except Charlie has profound intellectual disability, and while we are not quite sure what he understands, he tends to function at a level of a 1-2 year old. This means he doesn’t seem to care about most holidays aside from the general excitement, glitter, and togetherness of it all. He is mostly nonverbal so can’t tell us what he wants for Christmas. He doesn’t understand what Santa is, let alone sing a song about him. We are not even sure if Charlie knows his own name. Charlie should be in first grade right now, at his sister’s school, not a different school across town which was the only one able to accommodate his extensive medical, developmental, and behavioral needs.

As much of a bummer as it was to have this realization about Charlie’s differences harsh my holiday mellow, something else occurred to me almost simultaneously: I got through the entire dress rehearsal that morning and another 20 minutes of the actual show without thinking about what might have been until that moment. After acknowledging these feelings for a few minutes, I was able to switch back to enjoying the show. In the end, it was a beautiful night.

This represents major progress for me, a sign that I am getting to a good place with the holidays, but it will always be a struggle.

For me, holiday depression and isolation tries to rear its ugly head starting around Halloween, when I catch a glimmer of wistful what might have been emotions while watching the other kids Charlie’s age pick their costumes and trick or treat. My Charlie doesn’t understand what’s happening, and I mostly take him trick or treating for his sister’s benefit. This year, I brought with us his home health aide and behavioral therapist so that I could spend more time with his sister. Neighbors were very warm and accommodating to our little entourage, but I am not made of steel. I felt a pang in my heart with every house we visited, with each door that opened and only one of my children said, “trick or treat.”

I feel it when I see the other kids his age draw a turkey by tracing their hands, unassisted.

It really starts to creep in at Christmas time, upon receipt of invitations to participate in holiday crafts events, tree lightings, and cookie decorating, or when it’s time for my daughter, but not my son, to write a letter to Santa.

Then, Christmas morning, it is inevitable: no matter how positive of a spin I try put on it, or how cheerful I try to be for my daughter, or even how happy I actually am, a familiar wave of grief washes over me, watching him play contentedly with his old iPad while his sister unwraps her pile of gifts and he completely ignores his.

There is no excitement or anticipation. No annual holiday movie marathons. No favorite holiday food. No wish lists, no elves, no Santa, no traditions. It’s all just another day for Charlie.

And then there is the experience of taking my kid to unfamiliar places in general, and on top of that, seeing family and friends that I only see once a year. The party often turns into a mini-scientific and educational conference for guests requesting an update on my child’s conditions, brain surgeries, progress (or lack of progress), and prognosis, all while I am sweaty and exhausted, trying to keep him from peeing on the host’s floor. Merry Christmas to me.

I believe that I am in a good place this year because I have actively practiced certain strategies involving mindfulness, delegation, and general self-care. I am also very fortunate to have many experienced parent friends to lean on, including my friends, Andrea and Lauren, who have children with special needs. I would like to share our strategies, in the hopes that it will help you to have more fun at the holidays, no matter what your challenges might be.

“What gets me emotional about the holidays is whether or not this is our last one together. While we all have an expiration date, it seems so unfair that a child needs to go through this medical mess. I feel these suppressed feelings come to the surface during the holidays.”

– Andrea, a veteran parent of a child with special needs and member of Neurology Parent Professionals

Be direct about your needs

When people invite you to their home and ask you what you need, BE SPECIFIC. Most people really want to help but they have no idea how. My in-laws very thoughtfully asked me for input on how to make their Thanksgiving parties easier on me. We were able to schedule the parties around medication and bedtime so we wouldn’t disrupt his routine. That simple gesture alone took a lot of stress out of our holiday.

“I have always found being direct and setting expectations has been helpful. For example, when RSVP-ing, I mention where my daughter is in her schedule, this is typically her nap time, cranky time etc. just so if behaviorally something doesn’t work out or we’re late they’ve been forewarned. I also ask about the food and the number of people so I can prepare a meal option. Do you mind if I bring my portable highchair? I’ve asked if it’s ok for the wheel chair to come in the house. “

-Andrea

Don’t overschedule

EVERYONE feels overscheduled during the holidays, and it’s even more overwhelming when it takes you twice as long to do the most basic things. It sounds obvious, but don’t feel guilty for saying no to activities that are just too darn difficult. I love Christmas caroling but the thought of pushing a wheelchair in the freezing cold with both kids is not my idea of holiday magic. Instead, ask your local scout troop to host an indoor caroling event at a nursing home or pediatric hospital, which is something everyone can enjoy.

Put your foot down about unnecessary medical procedures, hospital stays, and IEP meetings around the holidays.

Offer to host

“I might have a small family Hanukkah dinner at our house, so at least he is comfortable at home.”

-Lauren, a veteran parent of a child with special needs and member of Neurology Parent Professionals

I know what you are thinking. “No WAY!” Because ain’t no messy house like a special needs messy house. Hear me out. Hosting the holiday party myself means I have total control of everything from the food to the schedule. The whole place is Charlie-proofed. There are no poisonous exotic plants for him to eat. No Ming vase to break. His meds, special foods, safety bed, diapers, and everything else is right there, so I can actually relax a little. Also consider hosting craft or wrapping nights with friends and their kids.

Understand that your presence is your present

Don’t feel the need to be Martha Stewart. You are already Super Parent. You have nothing to prove. I guarantee that EVERYONE in your world admires how you handle your daily routine, even if they don’t tell you or if they behave insensitively at times. I hire someone to wrap my gifts, and get gift cards whenever possible. I stopped sending Christmas cards a few years ago because…there’s just no way. When I visit someone’s home, I hardly ever bring anything that I have to cook. I bring wine, good bread, cheese, or something else I can pick up at the grocery store. If you have a child with special needs, you are probably also on a budget. For the many teachers and therapists in your life, in lieu of shopping for expensive gifts, make a small donation to your favorite charity in the name of the school or therapy center that your child attends.

Make Gift Giving Realistic

“I personally wrap my daughter’s toys in bags with bright tissue to make it easy for her to participate like all the other kids. She doesn’t get the concept of Santa or Christmas or that this gift is for her and I’m okay with that and that’s all that matters. Family members sometimes still wrap gifts in boxes which is difficult for her to tear but I just help her along.”

– Andrea

“I make an Amazon wishlist for my family for Hanukkah, so that he receives gifts I think will be helpful for his development, and/or he might enjoy. I dread the insensitive question, ‘What does he want??'”

-Lauren

Andrea offers a simple solution for what can be a dreaded and exhausting experience. In addition to gift opening challenges, the gifts themselves can pose difficulties. Charlie does not care if he gets presents, and it can be incredibly uncomfortable to watch him not enjoy his gifts in a room full of people with anxious grins on their faces looking for a reaction that he is never going to give to them. An additional complication for me is the fact that I also have a daughter who believes in Santa and would be confused if Charlie didn’t get presents. I usually get around this by having Santa give Charlie the “experience” presents like museum memberships or large, shared gifts like a DIY fort kit to build with his sister (translation: his sister and I build it, and he plays with it, maybe). Ask your child’s therapists what toys they would like her or him to work with and purchase those as “gifts.” Another tip is to buy and wrap gifts on behalf of family and friends and allow them to present the gifts to your child.

Remember: If it is only going to depress you, or completely exhaust you trying to make it happen, don’t do it. Don’t worry about what others think. My litmus test for these situations is, if HE doesn’t care, and his sister doesn’t care, it might not be a battle worth choosing.

Remember Siblings

One thing I struggle with is my tendency to ignore my daughter at holiday events because my son needs so much supervision in unfamiliar places that are not Charlie-proofed, or because everyone’s asking about Charlie and that’s all I can focus on. Something that’s very helpful is making sure we arrive when her cousins are there so that she can have a great time without as much direct attention from me. I also like to bring a picture that she drew for the hostess so that she’s already getting positive attention the minute we walk through the door.

Get Creative with Holiday photos

“Our Christmas cards will be far from perfect. It will be the best choice of 300. It will contain some adaptive technology so it screams special needs but it will never reflect the emotions of all that was gained or lost throughout the year.”

-Andrea

Many school and mall photographers fail to capture the fabulous Charlie-ness of it all. His last school picture made him look like he had a hangover. I am now stuck with a photo that shows him at his most impaired and vulnerable, and that bums me out every time I look at it. If you want to give photos for the holidays, consider snapping them yourself and making a collage. Chances are, you already have some amazing shots on social media. Or, consider investing in a good family photographer who will take time with you to capture the true essence of your family.

Have a getaway car

Consider taking two cars to the party, in the event that your child with special needs must leave with one parent while the other parent stays with the rest of the family.

Try to ignore criticism

Well-meaning questions are one thing, but let’s face it: some people like to be critical and unsupportive, especially when it comes to other parents’ choices. If you are a person who enjoys making your ignorant opinion known, you are going to have a field day with my kid, because nothing inspires quite so much ignorance as a child with disabilities. My son is on a special, medically-supervised ketogenic diet to control epilepsy. Holidays are a great opportunity for others to vocalize how bad that they think my parenting is for “not letting him eat Christmas cookies.” It’s difficult not to take their comments personally, especially when I spend so much time and energy researching and agonizing over these medical decisions that others so readily dismiss.

I am VERY lucky to have very supportive family and friends, but I still get these questions and comments from strangers, year-round, not just at the holidays. I try to remember that these are the same people who criticized my choices with my neurotypical child as well, for example, my decisions to breastfeed and use sign language. As a parent, you must pace yourself with these people, because you will only get yourself all worked up and, I have found, rarely will you actually get anywhere with your efforts to educate. I find that with super-critical people, it’s often best to change the subject or walk away.

Expect – and Embrace – Meltdowns

“If there’s anywhere new we go I bring a lot of snacks, some fidget toys, headphones, and just pray it goes okay.”

-Lauren

One year, Charlie ate Grandma’s decorative pine cone, and we spent Christmas afternoon on the phone with Poison Control. We can laugh about it…now…

“There are always going to be the disaster moments too, like when you daughter pulls the table cloth and all of the food tumbles to the ground. Laugh at those moments ’cause they are the real memories.”

-Andrea

What are some of your tips for making the holidays more enjoyable with your family member with special needs? Please leave your advice in the comments!

Genetic Testing, Precision Medicine, and Research: Advice From Veteran Caregivers

I received this note from Charlie’s genetic counselor just last week.

“Hi Danielle,

Results did just come back, and there was no definitive diagnosis- a copy of the report is attached for your records. Therefore, we will move forward with getting Charlie’s information enrolled in EGI. There was one variant identified in a gene called MTOR- changes in this gene have been identified in some children with autism spectrum disorders, epilepsy, and differences in brain formation, however these are typically de novo (only in the child), whereas Charlie’s variant was inherited from his father. This makes it much less likely that this is the cause of Charlie’s differences.”

And with that, the mystery of why my Charlie had infantile spasms, a rare and devastating form of pediatric-onset epilepsy, deepened.

How did I feel at that moment?

Heartbroken: I knew in my head that the odds of getting an answer were slim, but my heart hoped we would find out anyway.

Discouraged: I put a lot of work into getting this test approved by insurance and scheduled, only to have my hopes dashed.

Relieved: At least they didn’t find anything, well, more awful than I already know he has.

Angry: I am so, so, so sick of all of this. Sick, sick, sick, sick of epilepsy.

Self-pity: Why is this happening to me and my child? Why can’t we get SOMETHING to go right for us?

Denial: is it possible they just don’t know everything? Could they be wrong? Could it be this MTOR, or perhaps, GABRG2, the mutation that they found on the last test that he inherited from me? How could it NOT be inherited, since my uncle died in childhood from epilepsy?

Curious: Why is Charlie like this? Is it genetic? There must be an answer.

HOPEFUL: thanks to the Epilepsy Genetics Initiative , Global Genetic Variants Registry, and other research opportunities happening for kids with epilepsy right now.

When we first embarked on our journey with infantile spasms, I turned to online caregiver support groups for advice. The known causes of infantile spasms are numerous and range from genetic mutations to stroke to brain malformation. Some parents know the cause at the time of diagnosis, but many of us do not. Every parent’s first question is, “Why?” What did I do to cause my child to be so sick? Is it something I did when I was pregnant? Some environmental exposure or medication that I took? Could it be the glass of wine I had before I found out that I was pregnant, or all the diet soda that I drank?”

We are almost relieved to find out that very often, a completely random and unpreventable genetic mutation is the culprit, but then we start to worry about what genetic testing might discover. “If I have other children, will I pass it on to them? Does the genetic mutation cause problems in other organs? How long do children with this mutation usually live?“

Again and again, the subject of genetic testing came up in the discussion forums, but I didn’t understand any of it. Up to that point, I had limited academic coursework in genetics required of my Master’s in Public Health program. Indeed, many of the current hot topics in genetics were in their infancy fifteen years ago when I started graduate school. In my professional life as a clinical research data analyst, I often work on research projects involving patients with rare diseases that have genetic causes, but always AFTER their mutations were identified, not before.

I knew nothing about genetics or mystery diseases. I was just like many of you reading this right now.

My fellow “cryptogenic” (mystery cause) parents repeatedly discussed the different genetic “panels” to request from our neurologist. At that time, there was one that looked at 53 genes commonly linked to infantile spasms. Since those days more than six years ago, the “epilepsy gene panel” has expanded. Back then, most of the parents I know who received positive results from genetic testing then went on to one of a few wonderful, large patient support communities. A terrific group that comes to mind is the Tuberous Sclerosis Alliance (for people with TSC1 or TSC2 mutations).

These smaller, narrow panels leave many of us with no idea why our child is having seizures, and therefore, what other medical conditions they are at risk to develop, which medicines to avoid, and no support group to help us care for our children throughout their lifespan.

Take heart.

There is hope.

The whole exome looks at a lot more than the smaller epilepsy panels. However, when scientists analyze your child’s whole exome, they are looking for KNOWN mutations. New mutations are constantly being discovered and added to the list that they check for during testing. Mutations become known when people with epilepsy get their whole exome analyzed and sent to researchers who can dig deeper and identify new mutations.

That’s why it’s really, really important for all of us “unknowns” to get our kids’ whole exomes into the big genetic data pipeline, so scientists can have more people to look at, compare, and discover what’s wrong with our kids.

Some other caregivers, and even people in my own life, have asked me, “Why do you want to know? Isn’t it best to leave well enough alone? He’s already experienced years of brain damage from thousands of seizures, and has lost a big part of his brain to brain surgery. Knowing his mutation won’t change Charlie’s outcome, so why put yourself through this pain?”

Here are my own personal reasons for pursuing a genetic cause for Charlie’s epilepsy:

Precision medicine: knowing the exact mutation(s) can lead to targeted therapies for Charlie, therapies that could significantly improve his health, quality of life, and development. It is inaccurate to state that knowing his mutation now, after years of brain-damaging seizures and two brain surgeries, will not change his outcome. We just don’t know what a targeted therapy might do for Charlie.

Currently, most epilepsy treatment protocols for mystery kids like Charlie involve throwing medication after medication at them, in random order or at the preference of the physician, and hoping something works. In fact, most parents are told early on that if three medications are tried and fail, the odds of any pharmaceutical working at that point are slim. Something that works for one kid doesn’t work for the other, and nobody knows why, because we don’t understand the underlying issue that made our kids sick in the first place. It’s like not knowing that there’s a connection between glucose and diabetes. How would they ever have come up with insulin as a treatment without that basic understanding of the functions of the body that regulate glucose? It’s pretty much a crap shoot, and it’s always hard to say which med is helping or hurting, especially when the child is on two, three, four, or even more anti-epileptic treatments at a time. All of the medications have side effects, some worse than others, and the medications themselves can trigger seizures when they are withdrawn.

Knowing a mutation would allow scientists to target the specific problem, kid by kid, so that we can avoid trial-and-error crap shoot mystery diagnosis epilepsy care. This is madness, and we, as parents, have the power to make a HUGE contribution to the solution by participating in genetic studies like the Epilepsy Genetics Initiative.

Research: knowing his mutation(s) puts Charlie first in line for any study of those mutation(s), including clinical trials of new drugs that could lead to a targeted therapy for him. I don’t want a study to pass us by because, as a mystery kid, we don’t meet the inclusion criteria of a specific mutation. For example, as soon as I find out his mutation, I can enroll in the Global Genetic Variants Registry, and receive notification whenever we are eligible to participate in a study.

Support: If there are other kids out their like Charlie, with the same combination of symptoms, I want to meet them. Maybe it won’t be until our kids’ data are roommates in the same research database that it is discovered that there is more than one Charlie out there.

Imagine if your kid had diabetes, but you didn’t know it was called diabetes. How would you meet other parents online who also had kids with the same symptoms, if you couldn’t Google ‘diabetes?’ The diagnosis makes all the difference in finding support. This is especially true for those kids who were never diagnosed with a syndrome or condition like infantile spasms (IS) or Lennox-Gastaut Syndrome (LGS). While the associated organizations do not represent specific genetic causes, there is strong support in the general IS and LGS communities that is not available to mystery kids without these diagnoses.

Access to services: Understanding and documenting the severity of his mutation(s) will help me to justify therapy and education services.

Medication safety: knowing his mutation(s) would also tell us which medications he SHOULD NOT HAVE, as some medications can make seizures worse in kids with certain mutations.

Overall health: Certain mutations that cause epilepsy also cause problems in the eyes, heart, kidneys, and/or skeletal systems, just to name a few. These problems might not become clinically apparent until long after the epilepsy presents itself. Knowing Charlie’s mutation(s) can help me to be proactive and start relationships with specialists who can follow Charlie and prevent complications that may arise.

Another “bonus” that often comes with genetic testing for epilepsy is the opportunity to learn about additional genetic mutations that you or your child might have that could cause diseases. For example, sometimes the tests will also reveal if you have the most common mutations that are implicated in breast cancer.

Family history: Knowing his mutation(s) allows me to make other family members aware, especially if this is an inherited condition. And if it’s not an inherited condition, this information will give us all a sense of relief.

Closure: because I’m his mother, and I deserve to know.

So how do we go about getting the whole exome done and sent to researchers? I will give it to you straight: most of the time, the burden is on you, the caregiver, to initiate this process, and the system does not make it easy for us. It is a battle worth fighting, for so many reasons.

You will almost certainly hit roadblocks early on, most likely with the insurance company. In addition, it might be difficult to schedule the tests, especially if both parents need to have blood drawn on the same day. Sometimes, you can arrange in advance to have the tests scheduled with clinical blood draws at your next visit, but this can be a challenge to arrange, or when you get to the lab, they might not know what you are talking about, your husband’s name isn’t in the system so he has to wait for his blood draw, your kid is hungry, you still have to drive an hour to get home and pick up your other kid at school…I know, I know, believe me!

By the time you hit your first genetics testing obstacle, you have put so much time and effort into it that you will feel overwhelmed, frustrated, and very sick of pushing for something that will not provide immediate seizure relief for your child. You will want to throw in the towel and say to heck with the whole thing. You may feel like you don’t have it in you to fight for this on top of everything else. I hear you. I have been there. PLEASE don’t give up, for all the reasons I listed above. Luckily, you have me and many other experienced parents who are ready and able to help you through it.

The first step is to ask your child’s neurologist if a gene panel or whole exome testing is right for you.

I will be blunt. Insurance companies can be total jerks about covering genetic testing, and it can be cost prohibitive to pay for the whole thing out of pocket. Parents often complain to me that they feel “priced out“ of genetic testing. That is absolutely shameful. I hate to hear that. Have no fear, I have found some ways around insurance rejections.

After our first brain surgery but before our whole exome testing, our brilliant neurogenetics doctor wanted to see if Charlie had a certain mutation because the next drug on our list was contraindicated for that particular mutation. In other words, if he had the mutation, that drug could make his seizures a lot worse. The insurance company rejected our request for coverage of the test, citing that it wasn’t “medically necessary.”

That particular rejection really got to me. I had lost all faith in humanity.

Fortunately, the doctor and dedicated genetic counselor at our hospital spent a lot of time and effort educating the health insurance company and, eventually, getting the decision overturned. If you get rejected, ask your genetics counselor to get involved and advocate for a reversal.

Something else parents need to know is that many genetic testing companies offer patient assistance programs to people whose insurance won’t cover genetic testing, usually limiting your out-of-pocket expense to $100 or less. Check with the company and your genetics department about this option if your genetic testing is rejected by insurance. If you need some advice on this, send me an e-mail: danielle@neurologyparent.org.

Once your genetic testing is completed, you should explore research studies. Usually, it’s just a matter of consenting to let your doctor or lab send the test results, medical history, and/or blood sample to the study team. Start by asking your neurologist about studies. If your mutation has a support group or nonprofit organization associated with it, reach out to them. Look up any clinical trial through clinicaltrials.gov. As I mentioned before, for epilepsy, I highly recommend the Epilepsy Genetics Initiative (EGI). Note that you don’t need to have a known mutation to participate. In fact, one of the goals of EGI is to make those discoveries!

For those of you with KNOWN mutations, you can join up with researchers around the world. Our friends at the Global Genetic Variants Registry have just launched their website here. The purpose of their site is to link families with genetic epilepsies with researchers, possibly on the other side of the world, to understand the genes of epilepsy and find new treatments.

Finally, I reached out to my own network, Neurology Parent Professionals, for advice for families who are facing the prospect — or aftermath — of genetic testing. Here is some of their advice:

“Make an in-person appointment with a genetic counselor and make sure they explain the mutation in a way that you can understand. Ask a few key questions at the appointment, such as:

Is this definitely a pathogenic mutation?

How does it affect or potentially affect the child? This way you get set up with the right specialists right away such as cardiologist, ophthalmologist, physical medicine, etc.

Is gene therapy an option for this specific mutation, either now or in the future?

Research away, education is power, learn as much as you can- read it even if it doesn’t make sense right now, it will eventually as you continue to learn. Google it often, as there’s constant updates in genetic research right now

I know everyone is in a different place in their journey and some may not be able to jump right into advocacy but as soon as you are ready, get involved!”

–Leah

“Starting the process to access services if applicable is necessary to learn and initiate even though it is a stressful time. Every State has different case loads, waiting lists, evaluations etc. Become proficient on the ins and outs of your insurance. Do you need referrals? What quality and quantity of services are provided by the plan? Does your State bill for services or do they bill your insurance? Know that pharma offers services to absorb medical costs. Last, try not to become overwhelmed. It’s a lot that has to be accomplished but just stay calm. It’s a marathon, not a sprint (most of the time but not always).”

–Andrea

“Just because they find other kids with that same mutation doesn’t mean they are “Apple to Apple.” They may have other mutations that play into it, a larger mutation, and other factors play in. So, just because you find like families you may not find like kids.”

–Holly

I hope that you find this post useful as you navigate your own genetic testing odyssey. The goal of my blog is always to write posts that I wish were available to me when Charlie and I were just starting out. As always, please don’t hesitate to contact me or comment below, with any questions or suggestions.

Helpful resources

How to Research Your Child’s Medical Condition Like A Pro

Genetic and Rare Disease Information Center: Support for Patients and Families

Epilepsy Genetics Initiative

YouTube Course: Useful Genetics from University of British Columbia

Global Genetic Variants Registry

Rare Epilepsy Network

Clinicaltrials.gov Look up clinical research studies in the US

How to create Google news alerts (put your mutation name or syndrome in and get an alert every time it is mentioned online)

NIH Precision Medicine Initiative Cohort Program This is a very educational website for people interested in learning more about precision medicine.