Category: Resources

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!

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.

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.  Needymeds.org is another great resource!

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 my resource page!  You might also try the Foundation Center’s page for grantseeking for individuals.

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.

For education matters, check out Understood.

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!

How to research your kid’s medical condition like a pro

Tips from a mom who happens to be a professional researcher.

I am often asked if having a background in medical research helped me in navigating my son’s complex, mysterious, and rare medical condition.

The answer is:  yes and no.

Before I became a full-time rare disease researcher/activist/blogger/goddess/mom/public speaker/all-around glamorous diva extraordinaire, I worked in clinical research.  For 14 years, I have been a senior research data analyst and database manager for adult pulmonary and nursing research at Johns Hopkins.  I do the statistics for presentations, conference posters, and peer-reviewed manuscripts, and help to plan and implement large-scale clinical research studies on subjects like pulmonary hypertension, asthma, COPD, and cystic fibrosis.  Before that, I worked for several years in women’s health.  What that means is, when my son was diagnosed with infantile spasms, I knew absolutely nothing about pediatric neurology.

In many ways, I was a total beginner just like many of you.

On the other hand, my degrees in political science and public health combined with my experience in the health care field taught me a whole lot about where to find the good information about my son’s condition.   I also know a lot about research “systems,”  how papers get published, how research is funded, and how to read a paper.

I am now pursuing my doctorate in public administration, focusing on emerging qualitative research techniques that capture “real world data” on the patient and caregiver experience.

I would like to share with you my “essentials,” or the sites that I check first when I am looking up research or general information about my son’s condition, or helping another family look for information.

Using a few of my tricks, you can be good at this, too.

FINDING AND OBTAINING ARTICLES

UpToDate is hands-down my favorite resource for finding the latest, evidence-based information about any condition, written by doctors who really know their stuff.  These articles summarize the state of the research on a particular topic, synthesizing all of the latest studies, in an easy-to-read format.  The patient articles are free, but you can fairly inexpensively subscribe to the whole site with short-term access.  The articles that you get with the subscription tend to be much more detailed and are at a higher reading level than the articles written for a patient or caregiver audience.  Best of all, the articles provide lots of references to journal articles if you want to read about anything that was summarized in greater detail.  Oh, how I love UpToDate.

How can you find these journal articles?  Start with PubMed.   Click on the link and put my name (Boyce Danielle) into the box at the top.  It will send you to a list of a bunch of articles I co-authored.  Once you stop yawning, you can try searching for something that actually interests you.  Try putting in the name of a top researcher that you may have heard of, your child’s condition, or a combination of search terms like “epilepsy” “brain surgery” (although you might want to get more specific on those search terms, as it will give you way too many results to be helpful).  PubMed is where I start when someone asks me, “Hey, Danielle, I read a news article that came out yesterday that says they found a genetic mutation that causes cortical dysplasia.  Do you know what that is?”  I will play around with those words and between Google and PubMed (Googling [study epilepsy “cortical dysplasia” genetic] might lead to the authors’ names, which is then entered into PubMed), I will get enough information to answer the question.  There are a lot of different tools in PubMed that can help you search like a pro.  Just poke around that site for a while to get the help that you need.  Once you have your list of results, click on the article title to get the abstract, or a quick overview of the paper.  Many of the abstracts link to free full-text articles. Sometimes you have to dig around a bit to find the free links.  If the article you want is not free, sometimes your doctor or social worker will print out a copy using their institution’s access privileges– just don’t ask too often, because this takes up a bit of their time.   You can also try e-mailing the author or editor of the journal.  They are usually happy to share a copy with you.  It never hurts to have a good relationship with your local librarian.  Librarians love to help with research projects, and often have contacts at local medical libraries.

Side note: It also never hurts to try the National Academies of Medicine.  This group convenes expert panels and sometimes publishes really great documents jam-packed with evidence-based information and references.   This includes recommendations for changes that should be made to improve care.

INTERPRETING THE ARTICLES

Now that you have your articles, you may be thinking, “Holy cow, I don’t understand a word of this!  What does this all mean for my child?”  Have no fear!  I can help you.  The BMJ’s “How to read a paper” series will help to demystify what you are reading.  Note:  it is very important to choose papers based on well-designed research studies, because the interpretation of results is much more straighforward and relevant if you do.  Reputable sources mentioned above and your physician’s recommendation are the best place to start.

That’s it!  That’s all there is to it.  Once you have mastered these basics, read on for some special topics.

SYSTEMATIC REVIEWS

Cochrane Reviews take all of the published evidence on a topic and synthesize it using a fancy and totally legitimate methodology called a systematic review, and then draw conclusions for level of evidence for a particular intervention.  Clear as mud, right?  OK, let’s try an example.  I am interested in learning about the evidence based on the published literature on brain surgery for epilepsy.  I put “epilepsy brain surgery” into the search and obtained these results.  The review explains how many studies were selected, how the analysis was performed, the limitations of the analysis, and the authors’ conclusions.  If you link out to the Cochrane Library, you can find a lot more details, including author information.  Pretty awesome, huh?  I guarantee that if you mention a relevant Cochrane Review to your child’s doctor, she or he will be very impressed and will also possibly fall off her or his chair.  The only limitation for some of these reviews is the fact that rare conditions or interventions (like brain surgery for children with infantile spasms) occur too infrequently to be studied on a large scale, so there might not be many studies, and therefore there might not be enough evidence to give them a thorough summary.

Online courses

Now that you have a taste for this, how about taking some FREE online courses to expand your knowledge base a little?  You know, in your spare time! 🙂

While this CDC course focuses on population-level (public health) studies, I think it is a great way to get you thinking analytically.

Khan Academy is one of my favorite sites ever.  You can learn almost anything for free.  I can get lost on this site for hours the way I imagine other women get lost in the lip gloss aisle of Sephora.  Conclusion:  I may need to get out more.  I just can’t help myself.  This is a great site for getting caught up on basic science and biology, like organs and how they work.  Sign up for free and then start with the Health and Science section of the site.  For parents of kids with neurological issues, check out Biological Basis of Behavior:  Early Methods of Studying the Brain.

MIT Opencourseware is one of those projects that restores my faith in humanity.  Hundreds of courses on almost every subject imaginable available to anyone to review, FREE!  Like Khan Academy, this site is more for big picture topics related to the human body rather than individual diseases.  If you search for broad terms like, “brain” you will be blown away.

These are just a few of the millions of resources online waiting to be discovered.  There’s nothing stopping you from being the most educated person in the room (at least about your child’s condition).  After all, you are already the expert, and you always were.  Now you have the research to prove it.

I am so happy to be able to share this information with you, my most fabulous readers.  Please comment if this post helps you or if you have any 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.