Neurological Differential Diagnosis

I feel like I am living an episode of House.

You know the part where House and his entourage sit around the office throwing out possible syndromes/diseases/disorders?  That is called a "Differential". And you know the part where he chooses one syndrome/disease/disorder that the others don't agree with?  Well that is kind of what happened at McMaster.

We got to McMaster only to find out they had mailed us a postponement letter pushing Leah's appointment back to the 19th.  Obviously we didn't get that letter so they agreed to see us anyway.  They went off in search of a Resident  who didn't have a caseload that day and found us Dr. Fudge.

Dr. Fudge and his student did a very thorough history and physical exam.  When I say thorough I really mean thorough - it lasted for almost 2 hours!  They asked tons of questions, and did a neuro assessment on Leah.  Then they left to go discuss it with Dr. Callen and his team. 

We could literally hear them doing the differential, and we saw them looking at her MRI.  Then they all toddled back into our room and began the explanation of their thought process and gave us a "working diagnosis".

According to Dr. Callen he would be "flabbergasted" if the tests he has ordered for Leah come back as negative for Narcolepsy with Cataplexy

So our working diagnosis is Narcolepsy.  Strangely enough, it was mentioned in a couple of comments from a reader at the very beginning and was discarded as I didn't feel Leah met the criteria.  I still don't think it really fits as so many of her problems are not included in the symptom lists.  No matter, regardless of how sceptical I (and others) may be, we are just so darn glad that we are moving forward.


They have sent of the paperwork for the government grant necessary to do the genetic testing in Boston.  This testing will tell us if she has the genetic form of narcolepsy.  They are scheduling a polysomnogram (PSG) and the multiple sleep latency test (MSLT). 

Basically those tests will tell us if she slips into REM sleep much more quickly than the norm.

They encouraged (can you believe it!?!?!) us to research Narcolepsy and become very familiar with it.  One of the first things we saw was the Epworth Sleepiness Scale   My mother and I score very high on it, so I guess a genetic link is possible (note to self: call the doctor for a sleep study for me!)


As well, he has agreed to do the test for Lyme disease!  He actually considered the probability of a positive finding.  You could see him thinking - he thinks like I do...rolls his eyes upwards as if he is looking at a mental chalkboard.  :)  He doesn't think it is going to show a positive result but he said it was a simple addition to the bloodwork he was already ordering.

So keeping with the "House" theme, I fully expect the tests to come back negative for Narcolepsy, and then they will pick something else to investigate.  And I am okay with that as long as they continue to investigate. And I know that at some random moment, Dr. Callen's eyes will gloss over and random thoughts and ideas will suddenly converge to give him the magical diagnosis that will set Leah's life back on the right track!

A Little Bit of Everything :)

Greetings Friends, Family, loyal readers!  No real updates today on Leah herself, but wanted to keep you all up to date on everything else that is going on with her.

ROM Update
As some of you may have noticed via Facebook, I got tired of waiting for the ROM to respond to my complaint regarding their treatment of us.  So I sent a more tersely worded email.

I am shocked and saddened to see that the staff at ROM have not yet responded to my email.  Your auto reply states up to 3 days, elsewhere on the website it was stated up to 7 days.  It has been 9 days and I have yet to hear from anyone.

 

Our friends, family and readers of a blog we have created for my daughter were quite distraught to hear how callously we were treated.  I had hoped to update them with an explanation but it appears obvious to all of us, that it matters little to you how situations such as this can affect the enjoyment of one family and more particularly the enjoyment of one very sick little girl.

 

I am truly disappointed, we had expected better from the ROM.

 

Kate Balint

 

Needless to say this got a response within 90 minutes.  From there things went very well.  It appears there is some sort of glitch with their website comments page - they didn't get the original email, but they know I sent one because I had the autoreply.  The woman I spoke to - the Head of Customer Experience, has begun to look into the incident, was very apologetic and understanding of our needs.  She has offered to purchase or rent a larger stroller/pushchair for kids like Leah who don't require a wheelchair but are too big for the umbrella strollers they loan out. 

 

All in all the experience taught me a few of things

• It is easier to take a stand for my daughter than for myself - usually I don't make complaints, write letters or cause a fuss.
• Taking a stand and making my feelings known, is not actually physically painful or emotionally traumatising!  Who knew!  I have been avoiding it like the plague for my entire life.
• I always knew the little phrase "If at first you don't succeed, try, try again", but I don't think I had ever put it into action in this way.  Between our struggles getting a diagnosis and now with the ROM, I have a greater appreciation for such a simple yet powerful little phrase.
• Mention that you have a blog - and watch how quickly things move along!  Again, the power of words!  :)

Referral
It is a long traumatising, aggravating, frustrating story - but basically Leah now has referrals to both the Neurology department at McMaster and at Sick Kids.  We have the appointment for McMaster on Wednesday (YEAH!) and Sick Kids is reviewing her file and we should hear from them shortly (we've heard that before!)


Neurology Appointment
While at McMaster Leah will be seeing Dr. Callen (click to see his bio).  

Is it okay to be excited(?) and nervous (nauseous) at the same time?  On one hand, we will be moving closer to a diagnosis which is good.  But on the other hand we will be moving closer to a diagnosis which is scary!  Once we have that diagnosis there is no more pretending that everything will go back to normal.  We will have to create a new normal for Leah and our family and I feel so unprepared.  

So I have been doing what I do best: RESEARCHING.  I started out with a 1 inch binder and have had to move up to a 3 incher.  My printer is gasping for a break and all the Internet browsing has introduced a few viruses onto my computer - thank goodness Paul is a computer genius!

My brain is overflowing with details, stats, acronyms and info.  Based on everything I have read (and by golly it is A LOT!), I have compiled a list of questions and things to discuss with the doctor.  

I have also created an overview of Leah and her symptoms with a timeline of her bloodwork results to give him.  I figure we have wasted a whole lot of time getting to this point and I really want to make this first appointment count for more than a meet and greet.

Normally I would have Paul, or my Mom come with us, just to have another set of ears.  Someone else to ask questions and to fill in the blanks when  I forget things later. (notice I said when not if...I know my weaknesses!) Unfortunately, the fates are working against me this week and everybody is busy, so I'm contemplating playing spy and taping a recorder on me (joking ?).  All humour aside, I am going to do my best to suppress my natural awe of doctors and attempt to take control of the appointment and steer it in the directions I want it to go and to take notes along the way.

School and Leah
Still an ongoing issue, she missed 11 days in November alone.  Her teacher finally went on her maternity leave so now she has a new teacher.  She has been filled in on the issues but doesn't seem to completely have a grasp on it.  To make things even more complicated the supply principal has been changed as well, so I have requested a sit down meeting with them both to review the protocol and update it as necessary.

She is occasionally wearing the pull ups when she feels it is necessary, and has disclosed to me that have been other occasions recently when it has happened but she was so embarrassed she didn't tell anyone.  My poor baby girl, my heart breaks for her little bits each day.  And yet, she is so stoic and matter of fact about all of this.  She doesn't whine or cry about missing out on things, going to so many appointments or having so many tests.  She makes me so proud and she makes me be stronger for her.

Alrighty, I think that is enough for today, if you made it this far thanks!  I have always had a writing/talking style more like making a short story long, rather than a long story short!

Keep the prayer coming and your fingers crossed that we have a great appointment on Wednesday!  I will update as soon as I can.

Thanks as always.

Disappointing Outing

Yesterday, we had a very full day planned.  We were heading to Toronto to attend our first Christmas party of the year.  While we were there we planned on stopping into the Royal Ontario Museum and maybe even getting to watch some of the Toronto Santa Claus Parade.

We planned and packed, taking into account the amount of time we would be gone and knowing that they would all get hungry, thirsty and that Leah would undoubtably need to lie down at some point.  So into the van went the wagon, blankets, extra food and drinks and the items we had agreed to bring to the party.

Our first stop was the ROM.  We have had a family membership for a year now and the kids and I have spent many an afternoon wandering around visiting various exhibits and re-visiting their favourites.  But somehow, Paul never made it with us.  He hadn't been there for over 10 years, so I was very pleased he would have a chance to see it again and we would have some quality family time.

Unfortunately, things did not work out as planned.  Shortly after arriving, Leah had a small episode and was curled up in the wagon.  We were down in the special exhibit about Mayians when we were approached by security guards letting us know wagons were not allowed at the ROM.  I started to explain to them why we use it, but stopped myself because they are just doing their jobs and can't make changes to policy.  I would just up upstairs and speak with someone in charge and see if we could come to some sort of agreement.  The guards agreed to let us finish the exhibit and then head upstairs to get it sorted out.

Just as we were walking away from those guards, another one marched up to me and demanded that I turn around and walk back out because wagons aren't allowed.  I attempted to explain I had already worked out the issue but he cut me off and said "I don't know how the hell you got that thing in here, but turn yourself around and go back out."  AND then he escorted me out of the exhibit, into the elevator and up to the lobby!  Like I was the trouble maker!  He was so aggressive and offensive, I couldn't believe it!  I was SO offended that I just kept walking and Leah and I left.  We went outside to watch the parade while Paul and the other kids wandered around the ROM.



Leah waiting for the parade to begin



While we were outside Leah had a sudden loss of bladder control, it caught her completely by surprise and she was unable to stop it.  She hadn't had any warning that she needed to go to the bathroom, no feeling of urgency, it just happened.  She was so embarrassed and upset, not to mention cold!  So we packed everyone up and fought our way through the crowds to get back to the van so we could get her cleaned up.  Had to hit a store to pick up some wipes and some Pull Ups to get us through the day and the long ride home.  Cleaned her up, put a new pair of tights on her, luckily her skirt didn't get wet and then off to the party we went.

We had a good time at the party, the kids got to decorate the tree and eat anything they wanted to from a buffet table laden with food!

By the time we got home, everyone was exhausted!  I had planned to go back in and speak with the people at the ROM when we were done with the parade, but due to the circumstances I did not have the chance.  I have however, sent them a very strongly worded email this morning and am waiting rather impatiently for their response.



MRI results

Today was the day Leah had her appointment with Dr. Hallett.  Leah was having a bit of an off morning and it shouldn't have been a surprise for me when she had an episode right in the middle of the exam...but it was, it caught all of us completely by surprise.

But wait, let me back up a little, Dr. Hallett is the Consulting Paediatrican from McMaster.  She is kind of like a Dr. House for kids.  When children develop problems that their regular Paediatrician, General Practitioner or Emergency Department can't handle/diagnose, they send them to the Consulting Paediatrican.  We got referred to
Dr. Hallett through the McMaster emergency department.  She is the doctor that finally gave us the referral for an MRI after we had been turned down by everyone else.

So we head off to Stoney Creek this morning, hit every red light on Centennial Parkway and show up 7 mins late.  With many apologies I got her checked in and then sat and waited and waited.  The appointment was for 10:30am, at 11:05am, I was consoling another mother.  She had already been waiting for 45mins for their first appointment.  I calmly explained to her that Dr. Hallett is totally worth the wait, our previous appointment had lasted over an hour.  She listens, does a very thorough exam, chats with the child, asks lots of questions and never makes you feel rushed.

I think we finally made it into the exam room at about 11:30am, we met with her "Fellow", a kind of assistant or Doctor in Training or something.  Anyway, she was extremely nice, friendly and thorough.  She listened attentively as I ran through Leah's history and took copious notes.  Then she started a physical exam.  As of today, Leah is 48 inches tall and 52lbs. 

According to a Growth Chart Percentiles calculator
At 7 years and 6 months:
your child is 52 pounds, and that is
at the 43rd percentile for weight.
your child is 45.5 inches, and that is
at the 4th percentile for height.

She then took Leah's blood pressure sitting, standing and then again after standing up quickly.  She was about to have Leah run on the spot when Leah suddenly plopped down on the chair.  She wouldn't speak, wouldn't explain what was wrong.  She only wanted to climb onto my lap.  Her pupils were huge, she was cold and she began to cry.  The assistant got her onto the exam table and checked her out then went to inform Dr. Hallett.  They were gone for quite a bit, during which Leah wiggled her way further and further onto me and off the table.

Finally, they came back.  They had called McMaster and gotten the results of the MRI Leah had a week ago.  Leah has "Non Specific Changes in the White Matter" of her brain.

The appointment ended quickly at that point.  It went without saying, that Leah was done for the day.  We were sent home with a promise that she would be contacting Neurology herself and SHE WOULD get us an appointment.

A few snippets about White Matter Changes

• White matter refers to the fibre tracts that carry information to and from the brain.
• The brain is made up of gray matter and white matter.
• White matter is where the hardware connects to carry messages to the areas of the brain.
• The brain is about 60 percent white matter.
• White matter changes are an extremely common finding in the MRI scan.
• White matter changes are commonly seen in demyelinating diseases.

Now we wait, again.

Tonight I can't decide if I want to waste my energy being mad at all the doctors that told us a MRI would be useless to us; that because the CT Scan was fine, an MRI wasn't necessary.   One side of me wants to call up our paediatrican and just let loose, but the other saner side says what would be the point.   I am however interested to see what he has to say when he receives the results.

Would it be out of line to needle him about it just a little bit?  I think I am petty enough to get some enjoyment out of that.

As always, please pray that we get the answers we are searching for, we might just be on the right path this time.

Ups and Downs & Prayers and Squares

Almost a month has past since our last post.  In the big overall not much has changed for Leah, she still has frequent episodes, and is still missing on average 2 days of school a week.

Halloween was a lot of fun, the kids had a blast touring the neighbourhood with their friends.  Leah did not make it through the entire night.  One moment she and Megan were skipping up to knock on a door, the next moment, she was shuffling back toward us to climb into the wagon, curl up under blankets and fall asleep.

The results of her second EEG were normal, so it is now being assumed by her regular pediatrician that there is no brain involvement in whatever is causing the episodes.

On November 5th, she had her MRI, she did a fantastic job.  She was well prepared for it, we talked and talked about it, watched a video on YouTube that was made for kids about to have one.  She had her "doggy" and her prayer quilt, and picked "The Incredibles" to watch.  At the end she was rewarded with a medal and a small stuffed animal from the MRI tech for her excellent behaviour.  The good Lord only knows how long it will take to find out the results, as nothing moves quickly.

On November 14th we meet again with Dr. Hallet, the peadiatric speacialist - hopefully she will have some new ideas for directions we should take.

We received the referral for the Endocrinologist - Leah will see someone in MAY!  Again, as I mentioned earlier, nothing moves quickly.

Still no appointment with the Neurologist!  ARGHHH!

On the worrisome side of things,

• she appears to be losing some weight again, I know she has grown a bit - her pants are short again, but she is appears awfully skinny to me
• I am noticing more and more periods where she appears unfocused, "dazed" or flighty
• her energy level is still quite low, she isn't the happy-go-lucky, always bouncing little girl from before.
• the only time she really lights up is when she is about to meet up with her best friend Megan
• this week she had 3 episodes in under 24 hours - this has never happened before and has me on high alert
• the work coming home from school is beginning to show the affects of her frequent absences.  Tutoring is looking like a very real necessity.  We get a report card on Friday and I will have a better idea of her grades - although her teacher seems to think that she is doing very well.

On the positive side - Recently Leah was blessed to have the Prayers and Squares Ministry at Bethany Community Church make her a Prayer Quilt.  Once it was completed, the congregation was given the opportunity to stop in the lobby, tie a knot and say a prayer for Leah.  There are many, many knots representing prayers from the men, women and children that attend Bethany Community Church, and our heartfelt thanks go out to each of them and to the Prayers and Squares ministry group.

Prayers & Squares is an interfaith outreach organization that combines the gift of prayer with the gift of a hand-tied quilt. Unlike many other groups that make quilts for charitable causes, the purpose of Prayers & Squares is not to make and distribute quilts, but to promote prayer through the use of quilts. Our motto is: "It's not about the quilt; it's all about the prayers."

Each Knot Represents a Prayer
The idea behind these prayer quilts is simple. A heavy thread is used to take stitches through the quilt layers, and the ends are left free to be tied with square knot. As each knot is tied, a silent prayer is said for someone in special need, who then receives the finished quilt.



  She received it just in time to take with her to the MRI. 














As always, thank you everyone for your continued thoughts and prayers - we appreciate them so much.  The emails, Facebook messages and kinds words in passing remind me daily that we are not alone in this, we have people - friends and family near and far thinking, praying and rooting for us.

Little Red Wagon!

My dear Grandmother in Nova Scotia has just been beside herself about Leah.  She is so worried about her and calls my mom often for updates.  Last month she was trying to convince us that we needed to buy Leah a wheelchair - she is so afraid Leah will have a bad fall and get hurt during one of these episodes.

Well I don't think any of us are at the stage where we would consider a wheelchair, but I had been looking into strollers/buggies made for bigger kids.  The ones that are made by medical companies have a wheelchair-ish look to them, and the ones that are made by baby buggy companies just aren't right either. Not to mention that the prices are skyhigh - not that I wouldn't buy it if necessary but golly it would hurt!

Then, thanks to the wonder that is Pinterest (my newest addiction), I stumbled upon this little beauty.  The Easy Go Wagon.  It is 4 feet long when open, has a canopy, can fit two kids and/or tons of stuff, has great heavy duty wheels, a weight capacity of 150 lbs and folds up nice and small so I can carry it around in the van and actually fit something else in!

I had seen similar items over the summer while at various parks and attractions and had been intrigued.  I started looking around but didn't have the right search terms to find them.

Today I found it on EBay, brand new, low shipping with a Best Offer option.  They wanted $99.99 but I offered $75 and they took it!  I have seen them as high as $189 so I am very pleased with my purchase.

Now I don't have to be worried about what to do with Leah while we are out.  No more trying to squeeze her into Pat's buggy and displacing him.  She will now have room to lay down when she needs to, and when she really needs to cling to someone, one of the other girls could even climb in with her.

All in all, I am very pleased with this.  It will ship out tomorrow morning, I will pick it up at my friendly depot in Niagara Falls, New York later this week and then we are ready to head out and enjoy the sights and experiences of fall here in Niagara!

FRUSTRATION!

Today we went to the paediatrician's office for a follow up on Leah's extensive bloodwork and EEG.  The bloodwork had been ready on September 26th, and for some reason we were not called.  The EEG was ready some time last week, and again we were not called as promised.  I called McMaster to find out the status of it, and when told it had been read, dictated and printed, called the paed's office and made the appointment myself.

The waiting is tough enough, never knowing when the phone call is going to come and even worse, what it is going to say.  But to wait, and wait, and wait, and never get the promised call - for no apparent reason, really burns my butt!

Results

EEG - bottom line,it  is still showing as completely normal.  His response was, if the CT Scan and two EEGs are normal we can assume the brain is not involved.  But we will still wait for the Neurologist appointment.

Bloodwork - her thyroid hormones are normal - this means there is neither hyper nor hypothyroidism at work.  However, the other tests that use thyroid indicators(anti thyroglob, microsomal anti & TSH) are high and have been slowly increasing all summer.  This points to an autoimmune problem and based on that he has sent out a referral for her to see a Paediatric Endocrinologist at McMaster.  As well her CK (muscle enzymes were still high), her Blood Gases were a little off (PCO2 high, PO2 low and HCO3 high), and her red count high.

As usual the statement I received when asked for a more definite diagnosis was, "It shows something is going on, but nothing is high enough to point to one thing."  Hence another referral, more waiting, another chance to explain 3 years worth of symptoms in a 20 minute appointment, more tests, more questions, more exams and more WAITING!

In the meantime, Leah is missing on average two days a week of school - not including doctor's appointments.  So far, this is not impacting on her learning.  The work she is bringing home is excellent and she is still loving being there.  She has grown a couple of inches and gained a couple of pounds since July which is good, but her eating is still a little sketchy, so we have started giving her a bottle of Pediasure a day in addition to her vitamins.