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. Shit. 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 with prissy, sour expressions on their faces and cold eyes. 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. Is this a follow-up for a one-time-only febrile seizure?  Is mom concerned about “staring spells?”

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 special needs, 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 bullshit 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:

  1. 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.
  2. 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.
  3. No parental means testing: understanding that often the parents of special needs children are driven to bankruptcy at a far higher rate
  4. 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:

  1. Personal Service Worker Hours: These are hours of caregiver support designed to help individuals be included in the community
  2. 24 Hour Respite days
  3. Children’s In Home Intensive Services for children with significant medical and/or behavioral problems
  4. Training for families and caregivers such as delegations of medical tasks etc.
  5. Behavior Therapists, and Applied Behavioral Analysis
  6. Service Coordination
  7. Case Management
  8. 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:

  1. California
  2. Maryland
  3. Montana
  4. Oregon
  5. 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

  1. 1915 K Waiver CMS Website
  2. Oregon Types of Services Provided that are Funded through the K Plan
  3. Oregon K Plan Frequently Asked Questions
  4. The History of Medicaid Waivers in the United States

 

 

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.

Special Sounds

I’m sure your water didn’t really break.  You must be imagining that.

In this day and age, 34 week preemie is nothing.

He’s meeting his milestones.  Stop worrying.

It’s too early to say there’s anything wrong with him,  let alone autism.

It’s just teething.

It’s just a growth spurt.

It’s probably nothing.

Try to catch it on video.

Sometimes moms get nervous.

Have you been checked for postpartum anxiety?

We think it’s infantile spasms, but we can’t tell you for sure until tomorrow.

The price of that drug is so high that we don’t offer it here for ethical reasons.

He’s one  of the lucky ones.

I knew if we prayed enough he would be cured.

He won’t need early intervention.

We didn’t properly review the first MRI.

One hundred seizures per day is your new normal.  Unless he has more than that for ten days straight, I don’t want to hear it.

That kind of surgery is not for kids like him.

There is nothing more we can do.

He is not sick enough for nursing services.

He’s too sick for day care.

God only gives special children to special parents.

He doesn’t qualify for speech therapy because he can’t talk.

I call the spasm seizures “Superman seizures” because their arms go up.  It’s a cuter way for my patients’ parents to look at it.

I think a three-piece puzzle is an unrealistic goal.

Wraparound isn’t for kids with infantile spasms.

I wish I was that flexible.

I wouldn’t worry about getting him glasses.  He doesn’t do anything besides play with his iPad.

Did you know when you were pregnant that something was wrong with him?

I know exactly how you feel.  My dog had seizures.

Will he grow out of it?

He will grow out of it.

He has plenty of time to catch up.

 

Your claim has been rejected.

Your claim has been rejected.

Your claim has been rejected.

 

Your request has been denied.

Your request has been denied.

Your request has been denied.

 

He is no longer seeing new patients.

Fill out this form.

Call this number.

We need more documentation.

He has been dropped from…

We no longer cover…

Will he ever…

She is on sabbatical.

That ketogenic diet cannot possibly be good for him.

If he is hungry enough, he will eat.

How long do you think he will live?

He sure seems happy!

Call the Neurology Fellow On Call.

What are those toxic medications doing to his body?

I only feed my child organic.  I hate to give my child Tylenol.

Is Charlie excited about Santa?

Did he even notice you were gone?

Why don’t you just leave him at home?

Are you going to put him in a home?

If you have insurance, why do you need a fundraiser?

Was it a complicated pregnancy?

Did you take any medications during your pregnancy?

Do you think your age when you had him had anything to do with it?

There is a six-year wait for that benefit in this State.

If you fail three medications, the odds of anything working are almost nil.

We don’t think he really has autism, but it’s the only way to get services.

Can he talk?
Can he walk?
Can he feed himself?

 

You don’t qualify for the study.

We can’t watch him by ourselves.

That drug isn’t legal in this State.

Just Google a list of approved private schools and visit all of them.

I can’t tell you that without an evaluation.

We can discuss that at the IEP meeting.

I wouldn’t go without an advocate.

It’s time to renew…

We can always go back in again and take out more of his brain.

We have never tried…

Why does he drool so much?

 

Is he retarded?

 

Would you like to participate in a study?

The results of this study will not benefit you or your child directly but..

Have you gone to Dr. Rockstar?

We no longer accept your insurance.

Please send in diapers and wipes.

Technically, it’s a wheelchair.

He looks so normal.

There’s a waiting list for

…but we don’t have one at this school.

…but we don’t have one in this County.

He isn’t making progress.

He’s doing great…for him.

Are you going to wear purple today?

Are you going to the epilepsy walk?

Do you know a good neurologist in…

Does that really work?

Do you think it’s helping?

She’s not officially trained to do that but it’s pretty common sense.

Even if we do find a mutation, there’s a good chance we won’t know what it means.

…but they are not allowed to change diapers.

Most kids with infantile spasms don’t do half as well as him.

He seems so happy.

I don’t know how you do it.

You have to be at home to sign for it.

He’s too old for…

He’s too young for…

The attending will stop by and then we will try to discharge you sometime today or tomorrow.

He doesn’t have the right diagnosis for…

Too bad you don’t live there.

Have you ever read Flowers for Algernon?

Please help.  My child was diagnosed with infantile spasms today.

 

Please hold.

Please hold.

Please hold.

Growing up is hard to do: transitioning your child with special needs

I am the first to admit that the idea of transitioning Charlie to adulthood absolutely freaks me out.  I am FINALLY all settled with the doctors, therapists, schools, systems, insurance, and programs and I will have to do it all over again in what seems like a few short years?

I find that a lot of the resources out there for transitioning kids with chronic illnesses are aimed at kids who are capable of  becoming independent advocates for themselves.  My Charlie has a profound intellectual disability and will probably never be able to fully communicate his medical history, wants, and needs to a health care provider or live independently.  It is very possible that I will always have to be his voice and make decisions for him.  This adds a really challenging layer to my transition planning, so I need to start early.

Here are some of my questions/worries about transition:

  • Will he live with me or in a group home?
  • Where are the group homes?
  • What if the group homes are horrible like the institutions I saw on 60 Minutes? How can I find a nice one?
  • What happens at these places?  What will his life be like?
  • How will I pay for the group home?
  • If he stays with me, how will I take care of him alone?  He’s only six and it’s already difficult to bathe him alone. Can I get an aide to help me?
  • What are some things I will need to look out for at his IEP meetings as he gets older?
  • If Charlie is eventually able to work, are there rules about how much money is he allowed to make?
  • How will his Medical Assistance and other benefits change?
  • How do Social Security benefits fit in with all of this?
  • What forms will I need to fill out?  What are the associated timelines and deadlines?
  • Will I need to make myself his legal guardian?  How does that work?
  • Will his sister have to play a role in any of this?
  • Are my assets protected if Charlie needs expensive care?
  • Are my parents allowed to leave money to Charlie in their will?  If so, how much, and under what circumstances?
  • What is our children’s hospital’s policy on transition?
  • What doctor will Charlie see when he is transitioned to adulthood?
  • How will all of his medical records get transferred?

What will happen to Charlie if anything happens to me?

I am currently in the early stages of this process and will update these links and this narrative as time goes on.  However, although incomplete, I hope this helps you in your exploration of transition resources for your child.

The first thing I recommend is that you create a personalized advocacy toolkit so that you have your information totally organized and an entourage of helpers when this transition starts to happen.  Send to your team your own list of transition questions and you will get a wealth of information in return!

Don’t forget to e-mail your social workers and case managers at the hospital and school system and ask them to explain what to expect in the transition process.  If it happened today, to which medical center would they refer you? (you probably have some idea, but ask anyway).  Is there a program in place at the hospital to assist with transition?  Can they put you in touch with a family with similar circumstances to yours who has successfully transitioned?

Go to your local social media group (the one you identified or created as part of your personalized advocacy toolkit) and ask if anyone has gone through this transition process.  When you find someone, ask if they can post about their experiences and recommend helpers like social workers, financial planners, and lawyers who were particularly useful in this process.  Just asking the question is guaranteed to launch a lively discussion, and it will be great to hear the experiences of families who live in your area.

Next, go to the Child Neurology Foundation (CNF) page on transition.  Every time I go to their site I say, “WHOAH!  Where has this been all my life?”  I am so thankful that they put together this page. It’s really, really good, and not only for people with neurological conditions.

I want to highlight some of the other links that will be particularly useful to my readers:

Disability.gov has a page on transition that has some great resources.

Foster care:  For people with disabilities who went through the foster care system, this guide from the Florida Division of Vocational Rehabilitation is absolutely wonderful.

State resources:  Got Transition has a list of links to your State’s transition resources.  The American Bar Association’s Adult Guardianship Handbook by State is also terrific.

Financial planning:  this Special Needs Financial Planning blog post breaks it all down nicely.

Education and Employment:  The Center for Parent Information and Resources has a great overview on transition in the school setting that is helping me to get oriented to all that is involved.  You should already know about this group from when you created your personalized advocacy toolkit.

Social Security Compassionate Allowances List: In response to complaints about long waits for the Social Security Administration (SSA) to make determinations for Social Security disability benefits (SSDI) or Supplemental Security Income (SSI), SSA now offers a Compassionate Allowances program that expedites the application process for people who have certain conditions.  Find out if your child’s condition is on the list.

As you can see, I have a lot more questions than answers about Charlie’s transition to adulthood, but at least I am armed with all of the information that I need to make his transition go as smoothly as possible.

What are your experiences with transition?  Do you have any great advice or resources to share?  I would love to hear from you in the comments below!

 

How to make a personalized advocacy toolkit for your child

As a coach for parents of children with neurological conditions and developmental disabilities, I receive many questions about obtaining services through government agencies, financing medical care, and addressing disability rights violations.

It can be especially tricky to get the specific information that you need because of your child’s unique circumstances, differences in State laws, and the type of issue that you are having (insurance, housing, school).

No matter what the issue is, I almost always refer families to a set of tools that I like to think of as a personalized advocacy toolkit.  Any parent can make their own toolkit and use it to advocate for their child.

The goal is to be prepared to give organized information about your child’s condition to a network of familiar advocates who can be mobilized at a moment’s notice.

First and foremost, before starting this process, you must repeat this mantra:  I AM NOT A BOTHER.  I AM NOT A BOTHER.  The people in the list below get paid to help you, and even if they didn’t, they would be honored to help a deserving parent like you.

Let’s begin.

Make a one-page fact sheet about your child’s condition, and keep it on hand electronically and hard copy.   The fact sheet should include:

  • overview of the condition
  • how the condition affects your child
  • links to further reading

You can whip out this fact sheet whenever someone asks about your child’s condition — at an IEP meeting, with a new nurse or therapist, or when you are contacting an elected official.

Create a timeline of medical events in your child’s life.  This should be as brief as possible (easier said than done), and like the one-page fact sheet, it will make it easier to communicate to individuals who are trying to help you.

Create a care binder to organize all of your child’s medical information including your fact sheet and timeline.  Seattle Children’s The Center for Children with Special Needs offers this downloadable kit.

Make a list of all of the advocacy and research organizations for your child’s condition and get to know the staff.  I am so fortunate that the epilepsy world has many wonderful nonprofits who have Charlie’s back, such as the Child Neurology Foundation, the Tuberous Sclerosis Alliance, The Infantile Spasms Project,  and the Lennox-Gastaut Syndrome Foundation, just to name a few.  Once you make your own list, find out if these groups have State and regional contacts in your area and reach out to them.  Often, these groups have employees or volunteers that are dedicated to helping parents solve problems related to access to care.  Sign up for their newsletters and find them on social media.

Know your State resources. Every State has at least one Parent Training and Information Center (PTI) to assist families of children with disabilities.  Use this interactive map to find your PTI!  This post tells you all about how to find State Medicaid waiver resources.

Get to know your pharmaceutical companies. If your child takes medication, find out if the manufacturer has advocacy programs, such as patient assistance to cover co-pays and other grant programs.  Some have other great resources such as regional meetups and caregiver blogs.  RxAssist is a good way to locate patient assistance programs.

Know NORD.  The National Organization for Rare Disorders has many patient assistance programs and other resources to help families with a variety of situations.

Maintain a list of grant programs.  Check out the Foundation Center’s page for grantseeking for individuals.  This blog post from Joyful Journey Mom is so comprehensive.  I am amazed every time I look at it!

Put your hospital social worker on speed dial.  Social workers are incredible, magical people who are here to support you and your child.  My son’s social worker just got him approved for home health aide hours after I tried and failed.  When in doubt, tell the social worker.

Meet your elected officials:  find your elected officials here and send them a note.  Better yet, if possible, visit them in person, even before you need their help.  When you are in a jam, especially involving State or Federal benefits, housing, or other areas that touch on public policy, send them a letter requesting their intervention.   The American Library Association has a sample letter that you can customize for your circumstances.

Find (or create) a social media group for the community of families at your local hospital.   The beauty of this group is that it allows you to meet other parents of children with a variety of conditions, but who share the same providers.  If you only stick with groups for your child’s condition, you will miss a wealth of knowledge (and new friends).  My local Facebook group is quite active and is terrific for troubleshooting issues ranging from parking at the hospital to recommending providers.

Find a lawyer or know how to find one.  I love Wrightslaw’s Yellow Pages for Kids.  Identify your local pro bono health law group, often run in affiliation with law schools.  Mine is the Pennsylvania Health Law Project and they are so helpful, especially when there is a problem with Charlie’s Medical Assistance.

Now that you have your toolkit, you are prepared for almost anything that comes your way! Don’t forget to update it every six months or so, and touch base with your favorite organizations frequently in case of staff turnover so that you know exactly who to call when you need help!

I would love for you to share your favorite resources with me in the comments!

A beginner’s guide to the special education process

Are you new to the world of special education?  When it became apparent that Charlie would need special education, I went to the online support groups.  I remember feeling so overwhelmed and intimidated by the other moms who seemed to know so much more than I ever could.   I worried that I would never get up to speed.
If you feel like that, too, I want you to know that you are not alone.
This post is a roundup of everything I wish I had known at the beginning.
Get up to speed quickly by reading  10 Basic Steps in Special Education. The  Individuals with Disabilities Education Act (IDEA) is a law ensuring services to children with disabilities throughout the nation.  Wrightslaw is one of my favorite resources for special education law.
Did you know that there is an  Office of Special Education and Rehabilitative Services?  I didn’t, either, but knowing about it should come in handy someday!
I love these free  printables and other resources for children with special communication needs. Charlie uses a PECS book to communicate at his Easter Seals school and I am always amazed at how using the PECS system has improved his verbal speech!
Charlie LOVES his iPad. I picked up a few of these  22 Best Mobile Apps for kids with special needs. Charlie is also obsessed with  Rocket SpellerParker PenguinSuper Why! app and  Toca Doctor.  When you hear about kids using speech apps on the iPad, they are often referring to Proloquo2Go.  We are hoping that Charlie will start using this software soon.
Finally, oh how I wish I had known about A Day in Our Shoes a few years ago when the tumultuous IEP process began.  This site, and the corresponding Facebook support group, will rock your world with great resources!
I hope you feel a little better about setting out on your adventure in special education.  Please comment below to share your own favorite resources or ask questions!

Paying for it

When Charlie was first diagnosed with infantile spasms, I had private insurance through my employer but it was not nearly enough to cover copays for medications and therapies plus all of the other expenses such as wheelchairs and special beds that private insurance denied. I am above the income cutoff for Medicaid. What’s a working family with a really sick kid to do?
As it turns out, there is special waiver program, administered on a state-by-state basis, that can help! If you really want to drop some knowledge, ask your local Medicaid office about the Katie Beckett or Tax Equity and Fiscal Responsibility Act (TEFRA) provision. You can learn all about it here! For those of us who don’t have time to read a huge report, I love this web site for comprehensive information on  Medicaid waivers nationwide!
Sometimes, the medications that our children need are super expensive even after our private and public insurance options are exhausted. That’s where patient assistance programs come in. Find out if there is a patient assistance program for your child’s medication  here.