studies

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 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.

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
- If possible, use the National Library of Medicine, a source considered credible by elected officials and others who will read this. Otherwise, stick with peer-reviewed journal articles (learn all about this in my previous post about researching your child’s condition).

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!