After waiting five weeks, the appointment with Dr B, the pain medicine doctor, was going well. She’s a good doctor and was helpful with my lumbar injections earlier this year. She listened and took my MCAS precautions seriously. 

I wasn’t thrilled that I had to schedule an extra appointment before getting the cervical injections recommended by my orthosurgeon, but we are used to jumping through hoops, aren’t we?

Out of the blue, she sheepishly says, “Oh, by the way, I don’t do cervical injections.”

What????  Why am I here?  And why did I wait five weeks to see a doctor who couldn’t help me?

She says she can refer me to her colleague, Dr. C, but he is very picky about doing cervical injections, so I'll need an initial consult with him before I can schedule the injections. 

Are you kidding me? I need to start over with a new doctor? Steam was coming out of my ears.  Okay, maybe not real steam but it sure felt like...

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...

There is nothing like an ER visit to add stress and medical trauma to your life. 

After 3 days of using a CPAP machine for the first time, I woke up with a lot of facial flushing.  I didn't think much of it and managed it with benadryl until the evening.

Chatting with a friend, I casually sent her a text with my photo saying I felt a bit swollen.  Her response "Oh my! No offense, but you look very sick."  was a bit of a wake-up call.

With my swollen face, blood pressure going up quickly and my vision getting blurry I knew I had no choice but to head to the ER.   

I'm privileged to go to our little mountain town ER where they are kind and well-intentioned yet...

• there was no sense of urgency 
• when I got upset that the nurse said I wouldn't need an IV and when I tried to tell her I needed it because I can crash quickly,  I was told to calm down.
• the nurse questioned me about saying I had anaphylaxis in the ER asking if I had been...

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...

I remember being 10 years old with a runny nose and hands so cold it was hard to feel them, much less hold a basketball. It was winter in the midwest, after all.

But when dad asked if anyone wanted to play a game of ‘HORSE’ none of that mattered.

My dad was a CPA in a small town firm so he was super busy during 'tax season from January 1 to April 15th.  

He worked very long hours often late into the night. 

But every night he came home for dinner.

He made a point of spending time with us kids by playing horse, ping pong, or a game of cards before heading back to the office. 

Sunday's were my favorite.  Family Swim at the YMCA and being launched off my dad's shoulders, falling back into the water, amidst laughter and screaming.   

On the way home, we'd stop to buy root beer and a carton of vanilla ice cream.  Root beer floats never tasted better.

But, it wasn't just with us kids.  My dad and his partners would often end a long...

‘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...

Do you know what is in your medical records?

You have probably been told that it is important to get and review a copy of your medical records.  Up until now, it’s been expensive and often challenging to get them. 

For those of us in the US, a big change happened in April 2021, that gives patients online access, without delay, to the medical notes in our medical records. 

Federal Rules Mandating Open Notes

Beginning April 5, 2021, the program rule on Interoperability, Information Blocking, and ONC Health IT Certification, which implements the 21st Century Cures Act, requires that healthcare providers give patients access without charge to all the health information in their electronic medical records “without delay.”

https://www.opennotes.org/onc-federal-rule/ 

What are medical notes?

Medical notes are written by the medical providers as a way to document the appointment and as a communication tool with other providers. 

In the past, they...

After months of discussion, you finally talk your PCP into sending you to a specialist.  You are expecting a call from the new office but it never comes.  You call to follow up and try to schedule the appointment yourself but they tell you that you can't schedule it without the referral. 

You call the PCP office but they don't call you back.  You are stuck in limbo waiting on your PCP to complete the referral.  Every day you wait means a longer wait until you get to see the specialist.  

Finally, you see the specialist and they have no idea why you are there - your PCP gave no indication of why you were being sent there. 

The specialist writes a dismissive summary of you and your issues, maybe even undiagnosing you of your other rare diseases. 

Why does this happen?   In this case, your PCP was not filling the crucial roles that help you get the care you need. 

We all know that our PCP’s are helpful when we have...

The situation in our hospitals is getting more chaotic so managing and advocating for rare disease care is even more challenging.  A hospital is a challenging place for a rare disease patient at any time but the 'no visitor' rule has complicated communication and the ability for a loved one to help advocate for your care.