Merry Christmas!

From our family to all of you

As with most other families, things have been crazy and hectic at the Balint residence.

Between school events, Christmas parties and just the pure and simple excitement of Christmas, we are finally enjoying some relaxation!  The kids are on their second pajama day in a row and I have no intention of changing that.  :)

But as always, when the schedule gets too out of whack, and the excitement level too high, Leah suffers.  I had hoped that the pj days would help, but I think it was too little too late.  Today the poor thing is crawling throughout the house because her heads hurts so much and she is so dizzy she can't walk.  She was also up throughout the night and in bed with me but very restless.  She has finally succumbed to the cold that the other kids had, so that is making matters worse.  Her little system is completely confused right now.

The girls also reminded me that I hadn't given an update on Ronald McDonald House yet.  So here goes...

We collected enough items to put together

• 30 toiletry bags for the parents.  Inside each were a toothbrush, toothpaste, deodorant, shampoo, conditioner and a little baggie of Hersey's Kisses.  These went to Ronald McDonald House (RMH)
• 10 bags of just deodorant, toothbrush and toothpaste for the Ronald McDonald Family Room (RMFR)at McMaster
• a large gift bag filled with toothbrushes and toothpaste for both sites
• paper goods (plates, cups, napkins), cereal, snacks, hot chocolate, suckers, juice boxes, crackers for the RMFR
• paper goods (plates, cups, napkins) cereal, snacks, pasta, sauce, cake mixes, icing, canned veggies, soups, crackers, suckers, hot chocolate, etc for RMH

The girls were so pleased with their efforts, they decorated the bags and boxes and picked a nice big totebag to carry it all in.  We attached these little cards to each of the bags.

And here are the girls dropping off the donations to RMH and the RMFR at McMaster.  They received such overwhelming thanks from the volunteers that they are already thinking of ways to do it again!

Again, to everyone that helped us accumulate the items for this donation, thank you from us and from the staff and volunteers at Ronald McDonald House - it was all very much appreciated!

A Princess and her Castle

After a busy and very exciting weekend, followed by a busy and exciting Monday, Leah is having a TERRIBLE Tuesday! Seizures, sleep disturbances, blurry vision, headache, weepy, tired, cold. She is obviously staying home from school. She had been doing so well too.

At least she was interested in learning more about what is going on with her. I gave her this analogy.

She needs to think of her body like a castle that is under attack(germs, viruses, etc) all the time. Inside the castle there are defenders(anti bodies) who run around defending against the attackers. Sometimes the walls of the castle are weakened by mysterious forces (sickness, stress, overtiredness etc) High in the tower(brain) is the princess. She has special protectors(Keppra). Sometimes the defenders are so eager to do a good job defending the castle that they get confused and start attacking the things that live in the castle too. When this happens the princess's special protectors help to keep her safe but sometimes, the confused defenders fight them as well. And as skirmishes breakout thoughout the tower different things(symptoms) happen.

This started a long conversation but she finally seems to "get it". Of course by this afternoon she may not remember we even had the conversation! But at least I will be able to refer back to it :)

November's Update

After a couple of weeks full of doctor's appointments and trips to McMaster, I finally felt prepared to give a long comprehensive update on Leah.

INFORMATION IS POWER
As I think I have mentioned before I feel most in control of all of this when I am well informed.  I have been very heavy into research and networking with other patients and parents of pediatric patients with similar issues as Leah. There is so much information and data gathering that has to be done and kept up to date for each of her doctors.  I feel like I have turned into a fact-spouting documentation obsessed lunatic!

As a coping measure I have developed a large binder full of information on a variety of subjects relating to her issues as well as keeping copies of her medical history, bloodwork and diagnostic results and an ongoing list of questions.  The binder I use is similar to the one below.  It even has a shoulder carrying strap!  At Leah's last appointment I had it on the chair beside me open to a few articles that were heavily underlined with points I wanted to address.  When the doctor walked into the room I actually saw his shoulders slump!  Poor guy knew it wasn't going to be a quick easy appointment!

I have also created a document chronicling all of her bloodwork.  As I explained to one specialist when he wondered why I would do such a thing....I need all the doctors Leah sees to be able to take a look at the bigger picture.  They need to be able to see more than just the results of the tests THEY order.  Maybe if they had access to a document like this previously, so much time wouldn't have been wasted.  With this chart they can see at a glance how she is trending and draw conclusions from that.  For example, if her esoinophils and her IGE are consistently elevated (which they are - minimally) that indicates that there is an allergic response to something going on.  Now that triggers an investigation into what she is allergic to.  Eliminating any reason to rev up her immune response is our goal right now since it is already in a state of hyper-vigilance.

As well, everyone can see (especially me) what needs to be monitored and ensure that those problem results are routinely rechecked.   

Taking a step back and looking at how we were handling things at home and at doctor's appointments I realized that everything was happening TO Leah.  But she really wasn't an active participant and amazingly she didn't really have a good grasp on what was actually going on with her!  That one really shocked me!  How could she not know??  But then I gave my head a shake and realized she is only 8 and I can't just assume she would understand all of this.  I guess that it is a testament to how much she trusts us that she hasn't really questioned any of it.

As such, we have been encouraging her to take a larger role in her care.  I am encouraging her to be a more active participant in her appointments, to speak for herself instead of just pointing at me to provide the answers.  She fills out a daily chart outlining how she feels, what her symptoms were that day, rates her day based on a smiley face scale and even gives me a brief description on the back if something abnormal occurs.

SCHOOL
On the school front she has been doing very well.  Still missing a larger number of days due to either illness or doctor's appointments than I would like, but she is managing.  Her teacher says that she very smart and can pick up new concepts very quickly which is what is allowing her to catch up on missed school work.  Without that ability, she would be very behind.  However she is very very VERY disorganized.  She does well within the structure of the classroom where there are clear rules and schedule.  But give her any sort of freedom and she can't function.  She easily becomes overwhelmed and at times reduced to tears.  I am currently struggling with how to help her with that.  Her agenda doesn't really do it for her and I don't want to overload her with charts and check lists.  Anybody have advice?

MEDICAL
Recently Leah was seen by her new family doctor, a Neurologist and an Endocrinologist.  The outcome of all of that has been a couple of referrals to other hospitals.  In the coming months she will be seen at both Toronto Sick Kids and London Sick Kids.  She has a follow up MRI before the end of this month and an Ultrasound of her thyroid pending.  We will be gradually increasing her dosage of Kepra as she is still having frequent events (as the doctors call them) and her dosage was still at the "sub therapeutic level".

At the endocrinology appointment the doctor felt nodules in her thyroid and wants to do the ultrasound to investigate those as well as create a baseline to track any changes.

There is still some question in the minds of those doctors if the diagnosis given a Mayo Clinic is correct.  I am finding this increasingly frustrating.  I can't decide if it is ego, pride or just spitefulness that is causing their hesitancy or if there is a true doubt.   At least the psych consult is off the table now!

With regard to how she is feeling, Leah still is troubled by sleep disturbances which may or may not be seizure related.  She is frequently up during the night but doesn't remember much of what has gone on.  She comes to us seeking comfort which means none of us are feeling rested!  :)

Her mornings are still difficult and we have to be very firm with her and harden our hearts to some tears.  Not everyday thank goodness, but at least a couple times a week.

During the day she is still dealing with her sudden falls and dropping things.  Unfortunately this means her time on the monkey bars has had to be curtailed as whenever one of the Negative Myoclonic Seizures occurred, it caused her hands or legs to release and she was falling on her head!  She is still having her rest period at lunch time which I firmly believe is the reason she is able to stay at school most days.

In the midst of all of this, we have had a great month as a family.  Halloween was fun despite the rain and the kids are really looking forward to our annual trip to Great Wolf Lodge tomorrow!

I did however forget to pack the donations for Ronald McDonald House and Ronald McDonald Family Room into the van on our last trip to Hamilton, so for those of you who had sample sized toiletry items to donate but hadn't got them to me yet THERE IS STILL TIME!  :)  For those of you who have already gotten them to me or promised to do so THANKS SO MUCH!    I know they will be greatly appreciated by the families that will use them.

Small Update

Leah has been doing quite well at school and she has only missed a few days!  Granted, she has many mornings where she isn't feeling well and would really prefer to stay home, but we are strongly encouraging her to go and give it a try.  Always with the understanding that if she can't handle it she can come home.  So far so good!  Her teacher sends home notes full of positive reports too!

Her last round of bloodwork and a look at her behaviour patterns showed that we needed to increase her medications. She now takes a larger dose of her anti-seizure medication in the evening.  Hopefully this will help with the night time seizures she is having that are causing her so many sleep disturbances.

As well, we have just upped her thyroid medication as the blood work showed her thyroid was still having to work too hard.

We have made contact with Epilepsy Niagara and joined both the parent and child support groups.  I think this will be helpful for all of us.  We went to our first set of meetings on the weekend and have already learned so much!

Leah is having regular appointments with a massage therapist to help with her muscle and joint pain, and it seems to be helping an awful lot.

She has appointments with Neurology and Endocrinology over the next couple of weeks and this will complete the passover of information between the Mayo Clinic doctors and her medical team here.

We have an MRI booked for January to see how/if the disease has progressed there.

All in all, I feel Leah is in pretty good shape.  Things aren't perfect, she still has episodes, symptoms and seizures, but it is much better than it was!

Leah and her sisters are busy planning Christmas treat bags for the families that will be staying at the Hamiliton Ronald McDonald House over the holidays.

They are also helping me organize another donation to take to them when we have to go to McMaster next week.  We are collecting sample sized toiletries, toothbrushes and toothpaste.  They are in particular need of  toothbrushes and toothpaste.  So if you are like me and have a drawer filled with unopened samples that you will never use, just let us know and we will arrange to pick them up!

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!