An Open Letter to All Doctors

When a patient complains of chronic pain and illness take them seriously.  When symptoms interfere with their life and keeps them from doing the things they love, believe them. When the effects of it all begins to change who they are, be there for them, listen to them and help them.

A doctor is conduit to knowledge, yes he has the education to interpret that knowledge and the skills to put that knowledge into practice, but when it comes right down to basics, he is the conduit.  He can not look at you and just know what your problem is.  He needs to order tests, perform examinations and gather information before he can make a diagnosis.  If that information gathering is clouded by preconceived notions, assumptions and prejudices then the road to a diagnosis and recovery will be fraught with problems.  Even worse, if fact finding and information gathering is impeded by a lack of empathy or an overabundance of pride, then recovery and wellness will be compromised.

Being a doctor means more than playing God, being right or being the one in charge.  Being a doctor means putting the best interests of your patient first.  It means taking the time to really listen, to get to the bottom of the issue.  It means leaving no stone unturned until you find a way to assist your patient to the highest level of wellness you can.  And if you can't, it means you help them find someone who can. If doing that means you have to admit you don't know everything than so be it.  Pride should not be a factor when searching for a diagnosis - your patient's well being is the only thing that truly matters.

Every patient that walks through your door is unique.  No two patients ever present with the exact same set of symptoms.  The reference ranges listed on lab reports are based on what 95% of the population should fall into.  But that leaves 5% of the population that will fall outside of those ranges.  With a world population of roughly 7 billion people, 5% is a pretty large number.  That means over 350 million people won't fit into the standard result reference range.  Please don't let lab results be your sole method of diagnosis.  

Rare diseases exist.  It's pretty simple, they exist.  Maybe you haven't ever dealt with it, or maybe you have never even heard of it; but that doesn't mean that your patient doesn't have it.  There are 7000 different rare diseases that impact 1 in 10 people.  The Global Genes Project estimates there are some 350 million people worldwide currently affected with a rare disease.  Isn't it interesting how that number pops up again.

Your patients are more than a number, a dollar sign or a set of symptoms.  They are a living, breathing person.  A person who loves and is loved.  A person who is struggling, scared, in pain, confused and so many other things. A person who just wants to be heard, understood and helped.  In the end, your humanity, your empathy and your understanding will do more to assist that patient onto the road to recovery than anything else you can do.  If you put those things first as part of your practice you will be a success as a doctor.

Back to School, Phone Calls with Mayo and another Diagnosis

Did you see the local newspaper from September 4th?  Leah was on the front page!

http://www.stcatharinesstandard.ca/2012/09/04/a-new-start-for-leah

Special thanks to Standard Reporter Grant Lafleche for another fantastic article!

Leah and the rest of the crew got back from the cottage on Sunday September 2nd.  It was so wonderful to see them all after two weeks.  Paul had kept a journal detailing her medications and making notations about her symptoms or in this case, lack of symptoms!  Other than a few small blips, she had a perfect two weeks.

Leah started back to school with all the other kids in the region.  We were better prepared this year and had made contact with the school and her new teacher.  All the new information we had gathered at Mayo Clinic was shared with the people that need to know.  We felt confident sending her off this year, for the first time in a long time.

Her first week was fantastic, she had no complaints, loved being at school and absolutely loves her teacher.  Then the weekend came and she started to feel tired, had lost her appetite and spent a lot of time cuddling a stuffed animal and laying around.  Monday morning she woke up blurry and dizzy, emotional and clingy.  We encouraged her to go to school and try and make it through the day.  I felt horrible!  But I know that this is her new normal, and there will be plenty of days when she isn't going to feel 100% and we will have to nudge, push and prod her to "suck it up" and carry on.  While that goes against my soft hearted nurturing side, my logical side says it is necessary.

The good news is she made it through that day and managed to stay at school the whole day!  The bad news is she felt the same yesterday morning, again, we encouraged her to go to school, but this time she came home shortly after lunch.

I am not sure what is causing her regression, it could be her meds need to be adjusted and we will be addressing that at her pediatrician's appointment on Thursday.  It could just be that the excitement and stress of the first week of school finally caught up with her, or maybe she is already fighting off one of the many back-to-school viruses.  The doctor from Mayo has already recommended upping her Keppra.

I guess this is my new normal, always troubleshooting!

I have again spoken with the Mayo Clinic.  This time it was to finally get the results of the last round of bloodwork.  They had been exploring the theory that she had more autoimmune issues going on in her body and the possibility that all of her issues could be attributed to an Autoimmune Disorder.  Well the news isn't good, they have diagnosed Hashimoto's Encephalopathy.

We are still trying to assimilate all the new information surrounding Hashimoto's Encephalopathy (HE).  There is a lot to learn and it is difficult to find reliable information regarding how it affects children.

I also finally got the written report from her Autonomic Testing.  While her blood pressure and heart rate were fine, as part of the conclusion, it was noted she has a "Severe Postganglionic Sudomotor Failure".  Basically this result represents the findings of the QSWEAT test.  Basically her Central Nervous System did not respond properly when prompted to sweat.  They had attached 4 sensors to her to monitor sweat production and only one sensor was able to detect any sweat at all and that was only a minimal amount.

So, what does that mean?  I really have no idea, my research is not getting me very far, so I will have to wait to speak with one of the neurologists again.

Meanwhile, the neurologist at Mayo would like Leah back in 6 months to redo the MRI, the Autonomic Testing, and bloodwork to chart the progression of her various disorders.  I am attempting to set it all up here and just send him the results.

Mayo Post-Mortem

It has taken me almost a week to settle back into regular life and reflect on all that happened while we were at Mayo.

Let's start with our overall experience - amazing!  In every way.  The hotel stay, Ronald McDonald House, every staff person, volunteer or nurse we saw - all amazing!

The doctors - Each doctor we saw took the time to review her history and come to the appointment informed but with an open mind.  We weren't rushed, they took the time to ask and answer questions, each doctor at one point or another consulted with a colleague on our behalf.  Each discussed with us the tests they wanted to order, what they expected the results to be and why they hadn't ordered others.  We were active participants in each appointment.  Our concerns were heard and addressed, our opinions and thoughts were valued and our hard work and research were appreciated.

I have already had one telephone conversation with a doctor since we have been home and have a few more scheduled.  They are quite interested in being kept up to date on how she is doing.

The results - We are still waiting for a couple of bloodwork results to come back. The results that we are waiting for will tell us if there is one or multiple  autoimmune issues affecting her.  With autoimmune disorders, you can only treat the symptoms so we have gone ahead and started the treatment for Hashimoto's Disease and the seizure disorder.  Leah started the medication on Friday and so far seems to be doing well.  We haven't seen any of the possible side effects, which is very comforting.

We have ordered her a WobL watch, it is made specifically for kids with medical issues.  It has multiple alarms to remind her to take her medications, the alarms can be audible or vibration.  I have read some very good reviews about it.

We will also be speaking with the school to obtain the necessary paperwork for the No Child Without Program for a Medicalert bracelet.

We have been to see her pediatrician and he has agreed to re-write her prescriptions and order her follow up bloodwork.  So that is a big relief.

Currently Leah is enjoying her time at the cottage with the rest of the family.  I get updates throughout each day about how she is doing and Paul is keeping a journal to track her health and episodes.

Final Tally - we haven't gotten the final bill yet from Mayo, but I kept a very, very close eye on our account while we were there.  The poor ladies in finance knew me by name!  We are still waiting for the doctor's fees to be added to the bill.  But at this point, based on the estimated amounts, we will come in under budget for the trip!  

Back Home

Just a quick note to say we are back home safe & sound and working on getting settled in.  We got back to our house around midnight and I started back at work at 830am the next morning.

Leah has been given the go ahead to make the trip to the cottage for two weeks with the rest of the family, so we are also busy getting that together as they all leave early Saturday morning.

I should have a complete update on the last day at Mayo and our plans for follow up and going forward done by Monday!

Thanks as always for all the good wishes, help, love and prayers!

Kate and Leah

A Weekend Away from Mayo

Hi everyone!  And a special hello to the staff and customers at Kay's Korner Variety!  A little bird told me our updates are being shared at the store!  Thanks everyone for your care and concern.

At Leah's appointment on Friday we learned we were being booked to see a Hematologist.  It would seem that Leah has also been experiencing an ongoing cycle of low neutrophils.  Her neutrophil level this week was in the 800s.  Normally it should be over 1400.  Looking back over the last 3 years of bloodwork we had on hand, a pattern of low and then normal levels can be seen.  This is called Cyclic Neutropenia.

My understanding at this point is that all three issues - Neutropenia, Negative Myoclonus and Hashimoto's can be attributed to autoimmune issues.  When I asked the doctor if they could all be cause by the same issue, I was told it was possible but not probable.  Now personally, I can't wrap my head around Leah have three separate and distinct autoimmune disorders.

On one hand, I am extremely glad we didn't make the trip all the way to here to be told "there is definitely something going on but we don't know what".  But on the other hand, being presented with three test verified disorders is overwhelming and a little daunting.

So with that in mind, Leah and I played hookie this weekend, we rented a car and drove to Minneapolis.  We spent Sunday at Nickelodeon Universe and Monday at the Sea Life Aquarium.  Leah had a great time  at Nickelodeon Universe, it is perfect for someone her size, she got to ride on every single ride - and some of them made the adults scream!  :)

 But I think she may have overdone it on Sunday.  She spent our entire trip to Sea Life and the Mall of America today in a wheelchair, curled up in a sweater and under a blanket.

She has been having some small episodes - I guess I can officially call them seizures now.....throughout the week we have been here, today's we can classify as an average one.  She was able to stay awake, but not as engaged and definitely not showing the enjoyment she normally would have.

Tomorrow we speak with hematology and find out what Cyclic Neutopenia means for Leah.  And, if all goes well,  we will be heading home in the evening!

Day 3 Update - Neurology

Our third day here was every bit as wonderful as all the others.  We moved over to the Ronald McDonald House and settled in.  It is a wonderful place, the people are kind and compassionate and have found the jobs they were meant to be in.

BTW....You can really tell you are in the states when you see signs stating guns are not allowed in the building!  That catches me by surprise every time!  :)

Leah's neurology appointment was 2 hours long!  He had reviewed her entire chart the night previous and was well prepared to speak with us.  He took a very in depth history, asked lots and lots of questions and then examined her.  He even sat back and very patiently listened when Leah was telling me the ENTIRE plot line of the chapter book she had been reading!

He began to develop a diagnosis and then called a colleague and had a telephone consultation with her.  They both agreed that what she exhibits is Negative Cortical Myoclonus  - which basically means a seizure disorder that presents itself as a sudden unexpected relaxation of the muscles; as opposed to a sudden contraction of the muscles as is stereotypical of a seizure.  Cortical meaning it takes place in the cortex.

The area that the seizures would be occurring is deep inside the two sides of the cortex which is notoriously  very difficult for eegs to pick up readings on. If my understanding is correct for Leah it would be effecting the purple, red and yellowish areas.  

The good news is the MRI showed no further white matter changes, the one area she had remained the same and there is no evidence of changes in the areas the seizures are occurring.

She has been prescribed the anti-seizure medication Keppra, we will trial it for 1 month and see if she improves.  The neurologist has requested we keep in telephone contact with him so he can follow her progress.  He will be sending his recommendations on to her doctors at home as well.  As a precaution he has ordered a set of bloodwork to rule out an autoimmune issue causing the seizures but he is quite certain that it will come back as negative.

Is it great news?  Epilepsy?  Not great, but totally able to deal with it.  She would need to be on medication for the rest of her life, have frequent blood work to check the levels of medication in her system and make changes to it as she grows, hits puberty etc.  It will impact her for ever, and she will have a hard time making people understand because it is the opposite of what people expect.  But keeping things in perspective, when we are in the children's clinic and see the spectrum of disorders and diseases the other kids are coming in with, I am grateful that epilepsy is all we have to worry about.

So now we are heading back to Pannekoeken for brunch!

Leah wants us to split one stuffed with bacon and one stuffed with chocolate chips.  Not sure if my system can handle that in one day, but I feel like celebrating so I will pack some Tums and let her go crazy!  :)

After that, we head over to the overseeing Dr. for our follow up appointment.  There we will get her opinion on the blood work that was done and find out if we also have to face a lifetime of synthetic thyroid medication.  Again, in the grand scheme of things, more bothersome than anything and completely manageable., We will also find out if we have to stay longer or try and make arrangements to come home early.

Update to come later one!

Day 2 at the Mayo Clinic

Our second day at the Mayo Clinic was just as good as the first.

Leah had a round of blood work first thing and then we went straight over to her Autonomic Testing.  This testing allows us to see if her Central Nervous System and her involuntary reflexes are working properly.  This test rules out Postural Orthostatic Tachycardia Syndrome (POTS).  I was able to be in the room with her throughout the testing (which was very cool!) and she had no issues with any portion of it.  Her heart rate and blood pressure remained stable, she had no symptoms of her episodes and her CNS responded normally throughout.   So another thing to cross off our list!

Next we headed to MRI.  Leah breezed through her last MRI and so she had no hesitation about heading into this one.  In fact, she was so calm that part way through it she fell asleep!  I am anxious to get the results back on this to see if she has developed any more White Matter Changes or if the one noted previously has changed at all.

The super awesome cool part of all of this is, Leah has an online patient account with Mayo.  When test results are ready, they are immediately posted to this account!  The Doctor's notes, clinical notes, medication history, immunization history, medical records etc are all immediately updated within this online account.

So Leah's bloodwork results are already posted, based on those and her symptoms is seems like a diagnosis of Hasimoto's is coming.  We will find out more on Friday afternoon.

Today we are packing up and making the move to Ronald McDonald house!  This will be a big relief and money saver for us.  We will actually end up being a little further away from the hospital but shuttles run about every 15 mins, so it really won't be that big of a deal.  

Leah also has her Neurologist's appointment this afternoon - we will update afterwards!