Tag Archives: healthcare

We Should Have Known Sooner

SearchingEvery year, when Braxton’s birthday rolls around, I am full of emotions as I look back on our journey and see how far we’ve come.  This year, that is paired with all of our annual appointments with doctors we haven’t seen in 6 months to a year.  Some still didn’t know Braxton had finally received a diagnosis.

 

 

Doctor: “Did you all ever receive any additional information about a possible diagnosis?”

Me: “Oh, yes we did.  Braxton has Rubinstein-Taybi Syndrome.” 

Doctor: “Oh yea? I have a few patients with that.”

Me: “Umm..that you see currently?”

Doctor: “Absolutely.”

That has been the conversation at more appointments recently than I even want to tell you.  The doctor then proceeds to tell me about all of the things kids with RTS are at risk for from their specialty standpoint.  Outwardly, I am thankful they have heard of RTS and know what to expect.  Inwardly, I’m  furious and screaming.  You knew about RTS? You KNEW this whole time? The WHOLE TIME?! Why on Earth wouldn’t you have said anything before? Did you ever even look at my child!? Just a series of completely flabbergasted questions.

Almost ALL of our specialists very nonchalantly have said they are familiar with RTS and spout off all of these things about other patients.  Our anesthesiologist at Braxton’s tonsillectomy guessed RTS just from looking at the symptoms on Braxton’s chart.  Huh? So why did it take us 2 years to find out!?

I wish I knew why it took so long.  I guess, we know Braxton doesn’t fit “in the box” exactly, but is it really necessary for a child to check off every symptom before a doctor comes to a diagnosis? There was always enough information to make the diagnosis, but it was overlooked.  Even when it was brought directly to their attention, the doctor said “Welllll….he doesn’t really fit because x, y, and z” So because Braxton did not check off a few specific symptoms, we were left in the dark.

Yes, I am thankful and relieved to finally have an answer NOW, but do you know how nice it would have been to know earlier? It would have saved so much fear and heartache.  Sleepless nights where I sat up and watched Braxton sleep, just hoping that he wouldn’t stop breathing or be taken away from us as the doctor’s predicted.  Tireless hours of researching and contacting other parents.  Appointment after appointment where doctors just scratched their head and said come back in 6 months, we’ll see what’s developed.  The NICU doctor didn’t give my kid a month to live and you want me to wait six? What if we don’t have that long?

Braxton looks just like so many other kids with RTS, why didn’t anyone notice it before? Especially when they are currently seeing patients with the same diagnosis.  All RTS kiddos look like they could be related.  Sure, you see some of their parents in them, but their resemblance to one another is striking.

To me, there is no reason why another doctor could not have even hinted at this diagnosis. They spout off statistics and potential problems on a whim, so it’s not like RTS is so rare and unknown to them that they could not have suspected it enough to tell me.  This is the part that is so frustrating to me about our medical system.  Don’t get me wrong, I really love all of our doctors and they have done so much for us, but they’ve also let us down.  When yet another doctor tells me about the MULTIPLE patients they see, I can’t help but be frustrated and upset.

I think that is another reason why I have been so passionate about this Undiagnosed documentary.  Knowing that there are other patients out there like us, who end up being diagnosed with something that is uncommon, but something that there is enough information available for that shouldn’t require such a prolonged diagnostic journey (be it 2 years or 7).  With more awareness and a greater understanding of what life is like, the fears we face, and the struggles we have, maybe the medical community would move toward better networking and the development of an Undiagnosed Disease Registry.  These are things that could save a child’s life and spare a parent the fear of the uncertainty the future might hold, yet they don’t exist.

I am so hopeful for this film and hope that it comes to fruition. And while I don’t think our journey should have taken so long, I’m thankful for the road we have walked because now I can help others and be a voice for them.  Perhaps, like everything in our life, our journey was prolonged for a purpose. I hope that I am fulfilling that purpose through sharing our story and being an advocate for my son and the countless families who have walked this path before me and those who will follow.

 

 

 

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Undiagnosed: Medical Refugees Launches Kickstarter

Several months ago, I had the honor of sharing Braxton’s diagnostic journey with a crew who is currently filming a documentary about Undiagnosed patients across the country.

Braxton’s story is featured to speak about the importance of finding a diagnosis, how a diagnosis can give hope and direction for medical care.  Without a diagnosis, families are left in the dark with no way to plan for the future.  The not knowing is the worst part of the journey.  This documentary aims to bring light to this important population and revolutionize the healthcare industry.

The Kickstarter project for this film kicked off today.  Watch the trailer and please read the letter below and consider donating to help complete this film.  Share this with everyone you know.  The more money we help raise, the faster the documentary can be completed! Thank you for your continued love and support of Braxton.

 

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Dear Friends,

Our Kickstarter crowd funding campaign to raise $150,000 to complete Undiagnosed: Medical Refugees, a groundbreaking documentary film, has now officially begun!

For those of you who haven’t yet heard about this remarkable feature film, Undiagnosed is the untold story of the millions of people just like you whose lives have been devastated due to unknown or unsolved illnesses. What understanding more about the predicament of children and adults in this difficult situation could offer to the future of medicine is astounding, yet this population remains virtually ignored. The creators of this film are dedicated to starting a movement to benefit individuals with undiagnosed illness, as well as the healthcare system they must depend on for assistance.

The success of this campaign  completely depends upon public support, so please donate what you can (BTW there are some great “rewards” your donations) and most importantly, forward this email to as many people as possible– family, friends, co-workers, and any networks in which you participate. Please bear in mind that we must raise every dollar of the $150,000, or else we receive absolutely nothing!

Our team has been shooting this movie for over a year – without pay, and funding everything out-of-pocket. We are now 80% finished with production and need your help to raise the funds necessary to bring the film’s vision to fruition.

You can see the powerful movie trailer and campaign video, as well as follow this documentary’s progress and success on the Kickstarter campaign page:

https://www.kickstarter.com/projects/792434652/undiagnosed-medical-refugees-a-groundbreaking-docu

From the bottom of our hearts, thank you for your generosity in supporting this great cause!!

 

Sincerely,

Crystal Shearman
“UNDIAGNOSED” I PRODUCER UNDIAGNOSED FILMS, LLC

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Fads Are For Fashion, Not Healthcare

While I’m not a doctor, it doesn’t take one to start noticing trends in medical diagnoses, especially when you are as immersed in the healthcare world as I have been, now that I have a child who has special needs.

Every so often it seems like more and more people are being diagnosed with something and prevalence statistics are skyrocketing.   Then you have things like the K-E diet, where people began using Nasogastric feeding tubes to supplement nutrition while depriving one’s self of caloric intake as a way to lose weight.  As a parent of a child who REQUIRES a feeding tube to LIVE, I can assure you that feeding tubes should not be used as part of a fad diet.  Fads have no place in healthcare. Whether that fad is in the form of a new diet or a medical diagnosis, it is unfair to those who truly suffer from a disease and it is unfair to people who are misdiagnosed simply because it’s the diagnosis of the moment, when in reality there is so much more to their story.

Even before Braxton came along, I had worked in a pediatrician’s office, so I was very familiar with a variety of diagnoses and even helped to send out and collect the necessary paperwork for Attention Deficit and Hyperactivity Disorder, more commonly known as ADHD, evaluations.  As a child, my brother was diagnosed with ADHD and ODD (Oppositional Defiant Disorder) so I was aware of its existence and how it presented in children and adolescents.  As I got older, it seemed like everybody was diagnosed with some sort of ADHD or ADD (ADHD without the hyperactivity part).  This PubMed article states that between 2000 and 2010, ADHD diagnoses increased approximately 66%! It honestly seemed as though anyone who took their child to the doctor for any sort of behavior or attentiveness issues came out with an ADHD diagnoses and was subsequently medicated.  There was seemingly no second thought to any other causes or underlying issues.  Perhaps a different learning disability, or a simple case of kids being kids.  I’ve always questioned whether or not ADHD should be diagnosed in children as young as 3.  At 3 years old, children are naturally curious, rambunctious, wild, inattentive, fidgety and mischievous.  Regardless, doctors were quick to give that label and add another notch to their belt. Below is a table of currently approved medications to treat ADHD as well as the age in which these are approved for. I’m appalled by the thought of giving my 3 year old Adderall!

Approved ADHD Medications

I do have to say that I think ADHD is absolutely a valid medical diagnosis and there ARE children who have significant issues that need to be addressed, but my problem is that ADHD is so easily thrown out that it is over- and often mis-diagnosed in many children.  It seemed to be a for a long time the “hot diagnosis” of the time.  Now, you may be thinking, “My child did have ADHD and we medicated and I saw great results, etc.” but consider this for a moment.  There are PLENTY of people who do NOT have a formal ADHD diagnosis who have seen the SAME benefits as those with a diagnosis.  I have seen and heard countless stories of teens and college students taking Adderall because it helped them focus better on their schoolwork.  Does that mean they all have ADHD that went undiagnosed or is it more a matter of the natural side effects of that medication on the brain that enable them to focus so much better? Honestly, I’m not sure, but it is definitely something to think about.  While ADHD is still a common diagnosis, it is less heard about than in years prior.

Now, that “hot diagnosis” seems to be Autism.

Wait just one minute before you get the pitchforks out.  Again, I recognize that Autism is VERY real and there are indeed many legitimate causes for concern.  Here are my concerns: an increased number of children who have underlying genetic diseases are inappropriately being diagnosed as also having autism.  There are also an increased number of children who are receiving an autism diagnosis when, in fact, there is something MORE to the story.  So you see, I’m not at all trying to diminish or belittle any parent struggling through an Autism diagnosis.  I know it’s hard. I get it. I really do. I want the healthcare professionals to understand that there is more than Autism out there.  They NEED to take a deeper look instead of just going with the latest fad.  They owe it to you. They owe it to your child.  Have you ever thought there might be something more to your child’s story? More importantly, do you think your doctor’s even considered it or did just throw a label out to get you services?  Services are fantastic, but only when they are the right kind.  A proper diagnosis is important when determining what services and what types of therapies can improve a child’s quality of life.  

I read this article today, about Autism misdiagnosis among children with underlying genetic causes, more specifically 22q11.2 deletion syndrome.  The main premise of the article states:

“The social impairments common to those with 22q11.2 deletion syndrome, or 22q, can resemble symptoms of autism, leading many children with the condition to be classified on the spectrum. However, findings from a study published Wednesday in the Journal of Autism and Developmental Disorders suggest the two conditions may be unrelated.”

This led me to do some further research, as this is something I have thought for quite some time.  At about 18 months old, I took Braxton in for a routine appointment with his developmental pediatrician.  As per the industry standard, I was given the M-CHAT (Modified Checklist for Autism in Toddlers) to fill out regarding Braxton.  The M-CHAT is a tool used to screen children for early signs of Autism that would lead to further diagnostic testing and intervention.  This is a great tool for that purpose, however it is lacking in many ways, which I did not discover until this particular visit.

Here are some sample questions from the M-CHAT that require a yes/no answer:

1. Does your child enjoy being swung, bounced on your knee, etc.?
2. Does your child take an interest in other children?
3. Does your child like climbing on things, such as up stairs?
4. Does your child enjoy playing peek-a-boo/hide-and-seek?
5. Does your child ever pretend, for example, to talk on the phone or take care of dolls, or pretend other things?
6. Does your child ever use his/her index finger to point, to ask for
something?
7. Does your child look at you for a second or two?
8. Does your child respond to his/her name when called?

I answered all of these questions honestly, and for most of them, the answer was a resounding ‘NO.’  Braxton had all of the ‘clinical’ red flag indicators of Autism.  Instead of taking Braxton’s history and the ‘big picture’ into consideration, the doctor simply said that we needed to see a doctor more specialized in developmental assessments who could make an Autism diagnosis.  Flustered, I called our Physical Therapy supervisor who I knew had a better understanding of what Autism is and what it isn’t, and I spoke to our Speech Therapist for the same reason.  Both of them assured me that they did not see in him what would be considered classic signs of Autism.  Due to Braxton’s vision and hearing impairments, both of them stated those were more the root of the cause for Braxton rather than Autism.  We did not know the extent of damage to his vision due to the coloboma in each eye, but we knew it could possibly effect what and how much he sees.  Therefore, he would be lacking in the eye contact and interaction aspect of the M-CHAT questions.  At this point, we also had just gotten Braxton’s hearing aids and had just found out about his hearing loss.  So basically, for the first year and a half or so Braxton was unable to really hear, and therefore unable to respond to his name, imitate sounds, babble, etc.  He had two very important senses affected as part of his genetic syndrome that caused him to raise every Autism red flag indicator, but it did NOT mean he had Autism.  At his 2 year check up, once we had an official diagnosis, I relayed this information to the Dr (different than the one we saw at 18 months) and told her we did not follow through with the referral one, because it was a complete mess, but that’s another story, but also because in consulting with our pediatrician and therapists we decided he was not in need of further evaluation because his symptoms were due to his early sensory deprivation and not Autism. I also felt that he was being followed by more than enough specialists who were capable of making further diagnosis if necessary.  The doctor agreed and mentioned that in her short evaluation, she could see the red flags, but recognized the early delays and also saw in him things that would not be consistent with an Autism diagnosis.

This is just how the issue of misdiagnosis relates to our story.  I sought out other resources and to my surprise found that we were not the only family who had an underlying genetic condition and was also given a Autism diagnosis.  The Journal of Intellectual Disability Research published a study in 2009 as it relates to this very topic.  They studied the prevalence of Autism diagnosis in conjunction with several disorders that have a known genetic cause including Fragile X, Down Syndrome, Angelman, Cystic Fibrosis, and Rett Syndrome just to name a few.

One startling statistic pointed out “ASD is also the most common initial misdiagnosis in children with RS [Rett Syndrome], with 18% of individuals being diagnosed with ASD before receiving a diagnosis of RS (Young et al. 2008).”

This is incredibly alarming.  How many people receive an Autism diagnosis and just stop right there?  What if that 18% didn’t keep pursuing further diagnostic testing? What if more than that 18% is affected? This illustrates the importance of medical professionals looking in to the big picture and not just going with what is hot at the moment.  The sad reality is that for many of that 18%, it wasn’t until things got much WORSE that anybody gave them a second thought.  We shouldn’t have to wait for disaster for someone to do a little extra work to begin with.

There are several other similar claims such as this one in that study which support the idea that further consideration is necessary when an Autism diagnosis is made when there is also an underlying genetic condition.  The study’s conclusion states:

“There is a need for caution in interpreting the significance of superficial similarities between ASD and the behavioural phenotypes of certain genetically determined syndromes. However, recognition of ASD-like characteristics (even where a true diagnosis of ASD may not be relevant) in individuals with genetic syndromes is crucial in ensuring that individuals receive appropriate behavioural management and educational placement.”

This also supports the idea that a misdiagnosis can be beneficial if used appropriately to acquire services and education placement necessary for a child to be successful.  But, I caution that a misdiagnosis should never ever be the goal JUST to obtain services.  Find a doctor who will fight for your child just as you are fighting and will get you what you need the right way.

There has also been an increase in new information stating that some Autism Spectrum disorders have more links to Mitochondrial disease  and also warrant further testing. Mitoaction also has information on having a child who has an Autism diagnosis tested further for Mito.

Whenever I learn that a new parent has a child with multiple systems affected but is being given an Autism diagnosis, I can’t help but cringe.  It may in fact be true Autism, but the reality is that it could be more, so much more.  I can’t help but think about all the children who are not being diagnosed properly and who are not getting the treatment they need.  I’m not saying to not believe your doctors, but I am encouraging everyone to do more research and pursue further testing when your parental instinct tells you that the answer is not that simple.  Don’t let your child become part of some doctor’s repertoire for ‘diagnosing autism early,’ or think that just because he failed the M-CHAT he MUST have ASD, your child is so much more than a diagnosis and deserves to have someone speak up for them.  That someone is YOU. As the parent, you are the advocate. If something doesn’t make sense, ask more questions.  The doctor may hold a degree, but there is much more in the real world than they ever read about in a book, not to mention you spend day in and day out with your child and know them better than any book could ever teach a doctor.

Don’t be afraid to stand up.  Don’t be afraid to go against the trend.  Always, always remember that fads are for fashion and not healthcare.  Your child is not a fad, don’t let them be treated as one.

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Vote for Our SXSW Panel Idea!

Friends and Braxton supporters, I need your help!

As you all know, I’ve been very involved with U.R. Our Hope and they helped us so much as we struggled to find a diagnosis.  I have been asked to join a panel discussion with U.R. Our Hope and others to discuss the use of online resources, social media, and blogging to navigate the healthcare system while on a diagnostic journey.

When I was finally ready to share my story, the internet was my saving grace.  It is through the internet, my blog, and Facebook that I have been able to learn so much and connect with so many people.  In fact, it is through my blog that I first learned about Braxton’s diagnosis! I had several people contact me asking if he had been tested for Rubinstein-Taybi Syndrome well before our geneticist even thought it a possibility.  Reading about it ahead of time made the news much more tolerable and I was truly finally able to breathe when we received our test results.  Having someone to walk this journey with me, being able to connect with other parents, learning about “real life” experiences instead of relying on “textbook” definitions has helped immensely.  I want to reach other people and help them in the same way that I have been helped.

If you know anything about South by Southwest (SXSW), you know that people from all over the world and from all walks of life attend this event.  This would be the ultimate chance to reach out to others and let them know they are not alone.  The internet has made so much more possible for me and for many others I know.  I honestly do not think I could have survived this and be the parent that I am 20 years ago.  The information and resources readily available via the internet are simply astonishing.  Help us help others!

All you have to do is vote for our panel ideas by clicking the links below.  They will also be in the sidebar of our site until voting ends September 6th! You do have to create a Panel Picker account, but it’s quick and easy. I promise! Create an account, click the “thumbs up” to vote for BOTH of our panels and that’s it! You’re all done! You can only vote once, but we would so greatly appreciate it if you did! If so inclined, you can even leave a comment to tell others who are browsing through topics why they should choose ours! Or if you have any questions, leave them there and we’ll be happy to answer them.

Using Social Media to Navigate Healthcare

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Medical professionals, patients, and savvy navigators of the healthcare system will discuss resources to use when traditional channels are not effective or timely when a person or a family is faced with a medical crisis. The healthcare system can be daunting to those unfamiliar with the language and culture of the medical community. The benefits of online education, support groups, blogs, radio blog shows, Facebook groups will be explored. We will give specific examples of how individuals and families can benefit from utilizing social media on their diagnostic journey. We will discuss the benefits of having a patient advocate, whether it be an individual or an online community. We will talk about how to protect your privacy in this open and public forum. From finding a diagnosis to negotiating with healthcare networks, third party payers, and providers to have services covered, we will delve into the pitfalls that hinder effective care, and then provide solutions.

On a Diagnostic Journey

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Navigating the healthcare system when the diagnosis is not clear is a daunting process. Individuals with undiagnosed disorders lack identity and are often isolated and forgotten. This panel will provide resources to assist those with undiagnosed disorders in finding answers through advocacy and collaboration. On the panel are both individuals who know the undiagnosed journey, and those whose mission it is to guide and advocate for them. Utilizing social media, Skype, online support groups, blogs, and radio blog shows the panel members have been able to reach out “without walls” to help the undiagnosed community.

 

Thank you all so much for supporting this important mission!

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