The doc walks in saying - "did you know?". Never a great way to start. Maybe, just maybe this doctor will be the one to actually help...

Surprise!  

Your back pain, numbness, and nerve issues may be due to your disc degeneration OR  it could be due to your scoliosis OR your hypermobility OR your hip degeneration, and labral tears, OR your pelvic and SI joint arthritis. 

What was really a surprise was that I hadn’t been diagnosed with any of those issues other than disc degeneration. 

My new doctor, a Sports Medicine Ortho DO, is a great doctor who is very interested in rare diseases like EDS, MCAS, and others.  

What a blessing to find a doctor like her! 

For the first time, in my 60 years, she looked at my entire spine and hips, hence discovering many new issues.

She explained that the issues are likely interrelated so she created a plan to slowly work through the issues with injections and focused PT.  

What a relief to...

Years ago, a doctor at a migraine clinic looked at my kiddo’s list of diagnoses (mostly rare diseases), shook his head, and said that they were too young to have so many diagnoses.

He went on to say that rare diseases are rare so there was no way they truly had that many rare diseases.

What do you say to that other than apparently, their body didn’t get that message?

Time after time, you hear the same thing. You couldn’t have that because it’s too rare!

You probably already know the statistics on rare diseases…

• there are 7000+ rare diseases
• about 1 in 10 people (or 30 million people) have a rare disease
• more than 90% of rare diseases still lack an effective treatment

What does that mean in real life?  Let me share a few anecdotes…

My kid’s got a double whammy. I brought MCAS and mitochondrial issues plus their dad brought EDS, POTS, and EoE to the genetic table.  So rare that we just happened to find each other? 

Growing...

‘If you have any issues, don’t bother going to the ER.  Just go home and die.’  

Teri had lost her cardiologist and was meeting a new one when he said this to her.

Can you imagine?

Sadly, I’m guessing you don’t have to imagine it - you’ve probably experienced something like this too. 

As a rare disease patient, dealing with the medical system can be both hard and harmful.

Let’s talk about 3 reasons why it is so very important to learn how to navigate the medical system and to step into being your own advocate.

1.  Difficulty of finding doctors

Rare diseases are well...rare.  Many doctors don’t know about them or have limited and/or incorrect information about them. 

Teri’s cardiologist knew enough about her rare diseases to recognize their complexity but not enough to appropriately handle her care which was arguably worse than not knowing.

Too often, doctors feel that they can ignore the...

You, my friend, are on a journey...

Your destination is rare and not well known.

Your destination is so rare...you need a guide to get you there.

You look around, see a guide and hire them.

But most guides don’t know about the destination, don’t believe in it or they’ve heard about it but try to dissuade you from going there.

One says they know the destination and the way to get there so you hire them and follow them only to find out it wasn’t the right path.

Now you are farther away than when you started.

You have bruises and cuts from being led down that wrong path. Often left to deal with the resulting trauma.

You are frustrated, hurt, angry, irritated, and ready to give up...but you know you need to get to that rare destination.

You discover some locals who have been down the path to a similar rare destination...finally, you find someone who can help point you in the right direction.

You start learning about that rare destination - what it means to you...

Raise your hand if you have ever disagreed with a doctor?  

Maybe I should ask how many doctors have you not disagreed with?  

How many doctors are happy when you disagree with them?

It can be hard, especially for those us who don’t like conflict, to speak up and disagree with our doctors but let’s talk about why it is so important.

You are the Controlling Partner

Ideally, our relationship with our doctor is a partnership where we work together toward the same goal but even partners disagree.  Disagreements may occur on the goal, testing, diagnosis, or which treatment to be used.  

The best partnerships build off the strengths of each of the partners.  In this case, you are the expert on your body - what you experience, how it reacts, and your goals.  Your doctor is an expert on medicine (in general) - their understanding of the disease, diagnosis, and treatment. 

So, as the controlling partner in this partnership, it is...

Do you deal with the effects of medical trauma? 

Have you been told you need to get over it and suck it up?

Is medical trauma real?

It started out gradually, one day I noticed my arm was aching and it hurt to write or to be on the computer.  Pretty soon, I had a stabbing, unrelenting pain that spread to my neck and shoulder blade - it left me in tears and unable to sleep well.  Before long my forearm was screaming in pain and my hand was numb and tingling. 

I approached it in the ‘tried and true’ method of just ignore it and it will go away.  No luck.  I tried resting it but that didn't help either. Soon the pain was so bad I couldn’t use my arm and even walking was uncomfortable.

“Please don’t let this be another cervical disc and stenosis problem or Parsonage-Turner Syndrome, a rare neurologic disease,” I muttered to myself. My cervical fusion in Aug 2019 had gone well but it was a tough recovery and I really...

As in so many areas of life, it is hard or often impossible to know 'what you don't know' or to recognize what hidden issues or dangers are out there.

When you are dealing with doctors and medical issues, what you don't know and the hidden dangers of staying with the wrong doctor can be disastrous and even life-threatening.

The effects of staying with 'a wrong doctor' can vary from mild frustration to long term effects on the quality of your healthcare.

Changing doctors isn't easy or for the faint of heart

I get it.  Finding, meeting and working with a new doctor is a lot of work and can be scary too.

Let's take a closer look at some of the hidden dangers of staying with the wrong doctor.

Danger #1:  Emotional or psychological effects

When a doctor is dismissive or assumes the issues are from anxiety or depression, it can have a huge impact on you and your loved one's emotional and mental health.

How many of us have been told that it is anxiety?  Or if you make them...

Have you heard about the new anaphylaxis management algorithm?

If you or someone you love has had anaphylaxis that required an epi-pen, it is likely that you were told to call 911 and immediately go to the ER for observation.

Last week, FARE updated their recommendations to include COVID-19 into the risk/benefit balance of monitoring at home vs. an ER visit. This is especially important in areas where ERs are swamped with COVID-19 patients although most ERs have new procedures to screen for COVID-19 when getting checked in along with a focus on minimized time spent with any patient to lessen risk of transmission. 

As you can imagine, these new recommendations have caused a bit of controversy and concern in the food allergy and mast cell disease world.

Let’s take a closer look at the new recommendations and why they are being made.

Dr. Thomas B. Casale, the chief medical advisor for operations with FARE (Food Allery Research & Education)  and...

 Rare Disease Patients are...

1. Pros at limiting infection and cross-contamination, sporting facemasks, washing hands, and effective cleaning
2. Experienced at social isolation including homeschooling, and other creative options, work from home solutions and, finding support online
3. Used to handling emergencies, monitoring symptoms at home, and employ multiple rehydration techniques
4. Familiar with doing research by reading research articles, crowdsourcing ideas, and resources 
5. Practiced at treasure hunting food, supplies, meds and necessities (TP anyone?)  
6. Stocked with medical equipment and supplies to rival a medical supply company  (BP cuff, pulse ox, electrolytes, etc) 
7. Blessed with Mad MacGyver skills to adapt and figure things out.  
8. Experts at knowing our own bodies, symptoms, medical history, meds, and what we need
9. Ph.D.s in dealing with red-tape and bureaucracy
10. Resilient, used to living with...

Getting rare disease care has never been easy but with the coronavirus outbreak, it has become even harder.  Clinics are closing, surgeries are being rescheduled and long-awaited appointments are being postponed.  

Many of you may have had things canceled or postponed.  As disappointing as this is, it is important to realize that this is being done to help our medical system handle the coronavirus outbreak from a logistic point while also trying to optimize your safety as well. 

Your doctor, their clinic and/or hospital will be following recommendations by the CDC (Center for Disease Control) and ACS (American College of Surgeons) along with careful consideration of your specific medical case to decide what can and should be rescheduled. 

 
Our doctors were struggling to survive in a broken medical system before but now they are entering the totally unchartered territory of providing medical care during a pandemic.  The medical system...