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.

Wishing and hoping and thinking and praying....

Wishing and hoping and thinking and praying

This is the phrase that keeps going through my head.  Now I know that it is the opening line from a delightfully cheesy Burt Bacharach song, but it fits here too.

So much of medicine is waiting.  Waiting and ruling things out.  I realize that eventually, we will rule out most things and what we are left with is the probable diagnosis, but really, how comforting is that?

On Monday, Leah and I travelled to McMaster Children's Hospital again.  This time she was going for her second EEG.  We met with a fabulous technician.  She was so professional yet very kind, personable and put Leah right at ease.  She encouraged Leah to sleep if possible because the test can pick up some different information when the patient is asleep. 

First they created a baseline - she had Leah lie very still with her eyes closed for a while, then with them open and then closed again.  From my seat in the room, I could see the monitor and she had  very rhythmic readings.  Then they did the 3 min HVPT - Hyperventilation Provocation Test , after that test, even when she did fall asleep, her patterns never returned to a nice rhythmic pattern.

Now I don't pretend to understand what I saw, but I thought that it was interesting that after the HVPT was done, there were noticeable changes in her brain activity.  Even while she was asleep there were sudden and large spikes in activity. 

As always, the technician isn't allowed to tell us anything.  She said a neurologist would review it and a report sent to our paediatrician.  We can expect the report to hit his desk in about a week.

While we were at McMaster, I stopped by the Neurology department to put another bug in the ear of the secretary.  She now has a sticky note with Leah's name on it attached to her monitor.  It is to remind her to continue to search out which doctor is reviewing her file.  Not that I was told this, but I get the feeling her file is lost amidst paperwork on some doctor's desk.  So, I will continue to call and stop by until someone tells me she has an appointment!

On a positive note, we had a great weekend full of family fun.  Saturday we went to the Pied Piper Parade - a family tradition!  Leah was a beautiful bride and had lots of fun on the play activities in the park afterwards.  On Sunday, Leah had a wonderful time at her BFF's house and then we went to our local pumpkin farm for a great outing on a beautiful day.  Fun was had by all and we all returned home tired, but happy.

So until we find some answers, we will continue Wishing and hoping and thinking and praying

And she is home again.....

I have to say, I do love it when a carefully thought out plan works out perfectly - although in this case, I really do wish it wasn't necessary.

Yesterday, I met with Leah's teacher, principal and the Educational Resource teacher to create an Emergency Medical Protocol for her.  Hers, just like our Leah, is unique.  Usually when a protocol is created, it is because there is a solid diagnosis with definite signs, symptoms and actions to take.  In Leah's case it is full of "if this happens do this....", BUT "if this happens than do this....", OR "if this happens than do this..."

We had a very good, in depth meeting, the staff took lots of notes and were very interested in the history and progression of what she had been going through and most importantly of all, understood the necessity of having all staff members familiar with her and her condition.

To ease the process, I had typed up a list of her symptoms, what her reaction(s) is and a bit of her medical history.  I explained our concerns for her education and her socialization as well as her needs during and after an episode.

We discussed the need for ongoing communication and what would happen during school trips, assemblies and the need for her to have a bathroom buddy.

As it turns out, the first test of our protocol happened this morning, less than 24 hours after we finalized it.  And to boot - she had a supply teacher.  Her teacher had left a copy of my letter as well as instructions to confer with the teacher across the hall should she have any questions.  Today, Leah was home by 11am.  The plan worked like clockwork, all points were considered, assessed and followed through on.

Now that I know the protocol is in place and working, her fairy-god teacher across the hall is watching out for her, and all staff/volunteers and supply teachers will be informed, I think I can rest a little easier during the day.

This is a copy of what I had prepared prior to the meeting.

Leah Balint

Age 7 (June 10, 2004)

49lbs

No known allergies

Suspected Seizure Disorder

Doctor’s recommendations

·                  Minimize physical exertion

►    Participation in strenuous gym activities should be avoided (e.g. Races, aerobic activities)

►    Participation in regular activities is encouraged (e.g. Dodge ball, dancing, etc.)

►    Leah has been advised to limit running and chasing games while out for recess.

►    Leah has been advised to self-monitor – if she begins to feel weak/dizzy/sick to sit or lay down wherever she is and request teacher assistance        
Maintain a moderate body temperature

►    Leah should avoid becoming overheated whether through play or in the classroom.

►    Leah frequently feels extremely cold and an extra sweater has been placed in her locker for these periods.  Normally she would wrap up in a blanket as well, but unsure how that would work in the classroom

    Episodes

►    At the appearance of any symptoms or episodes, Leah can be assessed and sent home if deemed necessary.  Normally she requires a lengthy recovery period before she returns to normal and this will only interfere with the other student’s classroom activities.

►    If at anytime Leah should collapse or lose consciousness, 911 should be called and she can be taken to the Welland Hospital.

Symptoms

Leah’s myriad of symptoms is both troubling and confusing for the doctor’s as they don’t necessarily point to any one condition.

• Fainting with a long recovery time afterwards
• Complaints of the inside of her head feeling “blurry”
• Dizziness
• Sudden headache
• Repeatedly rubbing at her eye(s) because it feels “weird”
• Extreme coldness
• Occasional urinary incontinence (may be related to a seizure)
• Sudden “wilting” our way of describing a series of symptoms
• Eyes go blank or flat
• Lack of energy

Lethargic

Curling into herself, head hangs down or she puts it on the desk

Difficult to talk, to express how she is feeling, or what is going on, will give non-verbal responses when possible

Very weak feeling, resistant/unable to walk

Wants to keep her eyes closed

May suddenly wander off to a quiet space and fall into a deep sleep and be confused upon waking

Could also suddenly fall asleep in the middle of a loud noisy environment (assembly in the gym)

Leah is usually reassured and calmed by physical contact, usually “craves” it afterwards e.g.  Thursday when Megan Tessier cuddled close to her on the carpet, stroked her forehead and read to her until I arrived.  She needs it to feel secure, as she is very often confused about what has just happened and self conscious/embarrassed.

History

Prior to April/May of 2011, Leah was a very energetic, bouncy normal little girl who happened to fall down an awful lot.  We had been investigating these falls with her doctor since SK, but had never found a reason for them.  We would often describe these falls as “limp noodle” falls, she would just drop, make no effort to stop herself, would not put her hands out to break her fall or reach for something to catch herself.

Since the spring, Leah’s demeanor and energy levels have changed drastically. 

Most mornings she would complain of not feeling well, sore stomach, and muscle aches and pains.  She began to have trouble sleeping.  She would frequently need to come home from school due to her not feeling well.  We began to investigate with her doctor but continued to receive results from blood work and scans that were within normal parameters.

By June it seemed that Leah was missing more school than she was attending.  On June 16^th, she lost consciousness during play day.  Her recovery time afterwards was very long and it impacted on her speech, her muscle strength, she experienced a headache that lasted for days, her head and eyes felt “blurry” for weeks and she had daily bouts of dizziness.   She was hospitalized for 3 days while they monitored her, performed extensive blood work, ECG and a CT scan all of which came back normal.  An EEG was scheduled which also was normal.

Leah was deemed able to return to school but on the mornings she felt well enough to attend, she would normally call to come home by lunchtime.  She wore a holter monitor to school for the last 3 days of school, but again, there were no abnormal findings.

Throughout the summer, Leah has lost consciousness a couple more times as well as having many of what we call episodes.  She has been seen by the Children’s ER at McMaster, her paediatrician, a consulting paediatrician at McMaster and a Neuromuscular Specialist.  We are still waiting for her appointment with the Neurologist.  She has a repeat EEG scheduled for September 19^th and an MRI on November 5^th.  The working theory at this point is some type of seizure disorder.  The sudden falls may actually be atonic seizures and she may be experiencing complex-partial seizures, and those episodes of “wilting” may be her recovery period (post-ictal state) afterwards.

Due to her continuing issues and the aftereffects of these periods of lost consciousness and episodes, Leah has trouble retaining information (will ask the same questions repeatedly), has some balance problems (she can no longer ride her bike) and can become quite emotional very quickly.

Her father and I are very concerned about how she will perform this year and are looking for options to keep her up to date with her learning; we would hate to have her fall behind, as prior to all of this she was a very good student.

At anytime I am available by cell phone or at the house phone.  I do work midnights and sleep during the day while everyone is at school, so if for some reason I can not be reached, please call my mother who lives not far away.  She can come to the school to pick her up.  My husband works in Burlington and is too far away to assist with Leah during the day.

My husband and I would like to thank you for your help and concern for Leah.  Hopefully with us all working together Leah can have a successful year and her doctors can find some answers so we know for sure what we are dealing with.

With much appreciation,

Kate and Paul Balint.

And so it begins

Normally I work steady midnights at our local university.  I work in the Residences, doing a combination of secretarial and hotel front desk type work.  But for three weeks before school starts and when it ends, I work days, assisting the other staff in getting the rooms inspected and our offices ready.

This year, my husband packed up the kids and took them to the cottage for three weeks.  All the kids that is except Leah.  Her doctors didn't feel that an 8+ hour hot car ride would be a good idea.  Add to it, that the cottage is only accessible by water - about 20 mins by boat.  Then to get to the nearest hospital it is almost an hour.  It just wasn't prudent to take her so far away from help.

My mom offered to have Leah stay with  her during the day while I was at work.  I reached out to Leah's step brothers, her friends and my sister and asked them to keep a day or two open to spend with her so Nana could get a break and Leah could have some fun.  As well, we did "fun stuff" on the weekends and ate take out whenever possible!

While at Nana's house, Leah spent most of her time laying in bed watching TV, eating and just chilling.  No excitement, no exertion and no episodes.

She had a couple small episodes while out with her brothers after some physical exertion but on the whole, the three weeks passed with out any major issues.

As I mentioned in the previous post, I have been keeping her school and teacher informed of what is going on with Leah and warned them it could happen at any time.....like today.

I got a call at about 11:30am from the school.  Leah had "wilted" - that is our way of describing how she curls into herself, drained of energy and lethargic.  She was responsive by head movements but not talking.  When I got to the school, she was curled up leaning against the teacher's reading chair, her best friend was sitting beside her, stroking her forehead and reading her a story.  Leah walked over to me - her gait wide and waddling, her eyes flat, cheeks flushed and raised her arms for me to pick her up, as if that small exertion was too much.  I carried her out and put her into the car where she was able to buckle herself up, got her home and cuddled up in bed with her.  She relaxed there, slept for a while and woke up hungry and back to herself.

While I was at the school I asked the teacher about the morning, had there been physical exertion, did they have gym class, had she gotten upset about anything, did she get in trouble for something and become emotional?  A whole lot of "No"s.  Other than the room being quite warm and stuffy, I can't ascertain any trigger for her episode.  So into the green book the info goes.

I can only hope this doesn't happen too frequently, it freaked her teacher and vice principal out!  But I guess I am glad that it happened sooner rather than later, now they know what to expect and the best way to deal with her.  Hopefully she doesn't progress to fainting like she did last year!

Back to School

As with many other children in Ontario or maybe even Canada, I haven't really been paying attention to elsewhere, Leah started back to school today.

She was very excited, eager to get there, see her teacher with whom she had been with in JK, see her friends that she had missed so much over the summer, and of course to spend time with her "bestest" friend in the entire world - Megan. 

Megan and Leah are kindred spirits in every sense of the word.  When Leah isn't feeling well and can't spend time with her, Megan offers to come over and just snuggle in bed with her.  While the 3 of us were out for a fun day this summer, Leah had an episode and became very sleepy, Megan too "got very tired" and the sight of the two of them snuggled together in the back seat, Megan supporting Leah's head on her shoulder pretending to be in need of a nap too, just so Leah wouldn't feel bad moved me to tears.

Megan's mom is a teacher at their school and lucky for us, she teaches right across the hall from Leah's classroom.  She is going to be the school's first option when Leah needs help or assessment.  In the event that Leah faints/collapses again at school, she has already made arrangements to switch classes with the teacher and stay with Leah until medical help can arrive.  We are blessed to have that family in our lives and I can't thank them enough for the feeling of comfort and peace it gives me to know she is just a holler away should anything occur.

Leah and I went to school early this morning to brief her teacher on Leah's condition and symptoms.  Poor woman is hugely pregnant and looked a little freaked out by the time I was finished, but she was clear on what to do and we will be meeting again by the end of the week with the principal and the Resource teacher to develop a full emergency plan for Leah, that will be available and reviewed with all the staff at the school.  The plan gives them step by step instructions on what to do in each situation, has her picture on it, and all of our contact numbers.

We have also met with our paediatrician to get a status update.  Unfortunately, nothing much has changed.  Her EEG was clear, but according to my research and other doctors, that is not uncommon.  So another one has been booked at McMaster on Sept 15th.  We are still waiting and hoping for a call for the MRI.  I had her put on the cancellation list, but so far we haven't been called in early.  So we will probably still be waiting until Nov 5th, which is our scheduled date.  He seems to really be leaning towards epilepsy, but has mentioned narcolepsy and due to a newspaper article that caught our eye, we are also looking into a heart condition called  catecholaminergic polymorphic ventricular tachycardia (CPVT), an electrical disorder of the heart that is induced by physical or emotional stress.

I had really hoped that by the time school started back I would have some answers, but instead, it would appear we only have more questions.

As always, please share with friends and families and send me any ideas, thoughts or advice you may have.

Thanks for reading!

Kate and Leah

Feeling......?

I can not put into words how I am feeling today.  Yesterday Leah had her appointment with the Neuromuscular Specialist and unfortunately, we are really no further ahead.

He and his resident both feel there is something wrong but it does not fit within their area of expertise.  He feels we will be better served by seeing the Neurologist.

The word disappointed comes to mind, but I can't be disappointed to have degenerative muscle diseases crossed off the list.  I should be happy about that.

Defeated also is on the tip of my tongue, but again, it is progress of a sort.  Ruling out syndromes, diseases and illnesses will eventually lead us to the answer.  I guess it is the EVENTUALLY part that is causing the angst.

I knew going into the appointment that nothing happens quickly.  I knew that we weren't going to walk out of there with a definitive answer.  I also knew that it was just one step in the right direction.  But I guess I didn't expect us to get cut loose right away. 

They did a test called a Nerve Conduction Study or NCS.  In a nutshell, this test is used to diagnose

• Pinched nerves and inflamed muscles due to injury, a ruptured disk, disease or other conditions
• Carpal tunnel syndrome, characterized by pressure on a major nerve that causes pain in the wrist or hand
• Primary muscle disorders such as muscular dystrophy (a disease that causes certain muscles to atrophy, or waste away)
• Neuromuscular disorders such as myasthenia gravis (a dysfunction in nerve impulses that leads to chronic muscle weakness)
• Nerve disorders such as amyotrophic lateral sclerosis (commonly known as Lou Gehrig's disease)

So really, in a matter of moments with the help of a couple of electrodes, they were able to rule out a whole bunch of really scary disorders.  It really is some pretty awesome technology!

Now we are back to waiting.  Waiting for the MRI (November 5, 2011), waiting to get the results of her EEG and waiting for that ever elusive Neurology appointment.

Thanks for the Questions, here are some answers!

Hi everyone, thank you so much for your comments and advice. I will try to address each one, I will probably mix up which post they came from as I am relatively new to this whole blogging thing, so please be patient with me.

Lyme Disease - we will be asking for the bloodwork, but the Doctors at McMaster do not believe that it manifests itself like this.

Clotting Disorder - again, we spoke with the Hematologist at McMaster and posed this question. According to them, normally "sticky blood" disorders manifest themselves during puberty or later. As well, they would not present like this so quickly.

Parasites - we currently have a stool sample at the lab testing for this.

Neurological Issues - the hematologist were reluctant to comment on those as they are not their speciality but did believe that neurology was the way to go and made contact with the department for us.

Stomach/Gastro/Allergies - We will also be addressing these with her pediatrician, but in the meantime have eliminated dairy and gluten from her diet with no noticeable improvement.  When we spoke with the consulting paediatrician, she suggested we slowly re-introduce them into her diet.  Without any gluten in her diet, we would be unable to do the bloodwork to see if she had Celiac or an intolerance to gluten.

Mysanthenia Gravis - While she definitely seems to fit some of the symptoms, it is not a 100% match.  But, it rings enough bells that we will be bringing it up when we see the Neuromuscular Specialist.

Degenerative Neuromuscular condition - That will be the focus of our next specialist appointment.  Just waiting for the date.

Cataplexy - This doesn't quite seem to be what is going on with Leah, but as always we will leave no stone unturned and ask the Neurologist about it.

Thank you everyone for the tips, advice and information.  I appreciate each comment left, each email sent and every Inbox message on Facebook.  If I don't respond right away, please don't mistake my interest or appreciation.  We are attempting to keep things as normal as possible for the kids and that includes day trips, auditions for our little actress, museum trips and playdates at their friends' houses and here.  Add to that Leah's various appointments and that means I am one busy Mama!

PROGRESS!!!!! :)

Well, we haven't found the magic bullet yet, but we are making progress!  First and foremost we got the orders for a MRI! 

But first a bit of history, a couple of weeks ago, before Leah collapsed for the second time, she had a very bad morning, very lethargic, no energy, not eating, extremely blurry and dizzy, with a bad headache.  We decided to bring her to the Children's Emergency at McMaster.  She was seen very quickly but we got the same response as usual, it isn't an emergency situation and wasn't something they could deal with, within the scope of their work.  They offered us two options, we could be referred to the Paediatrician on staff which would be a one time visit of a maximum 20 minutes, the plus side being it would be the next day.  The second option would be to be referred to a Consulting Paediatrician who would follow her case until its conclusion but would take a couple of weeks to get the appointment.  This option would result in the best possible outcome - someone who could give me a second opinion AND actually do something about it.  So the choice was obvious - wait a couple of weeks and get a second opinion.

A Consulting Paediatrician is a doctor without a regular roster of patients.  She receives referrals from hospital system for children that are in need of a higher level of care than a general practitioner can provide.  Once the "crisis" or medical need is over, care is returned to the general practitioner.  Prior to going to our appointment, I did a little research on her, I went to the website ratemds.com to find out how other parents felt about her.  The response was great!  Parents were extremely pleased with both her medical skills and her bedside manner.  A couple parents even said she figured out their child's problem when no one else could!  HALLELUJAH!  My own personal Dr. Gregory House!

So off we went, with previous test results in hand, my little green book detailing Leah's daily symptoms, complaints, appointments and treatments and a whole lot of hope.

This doctor was FANTASTIC!  She actually spoke to Leah, asked her lots of questions and only looked to me for clarification.  Then she settled her down with some books and then it was my turn.  She really, really, really listened, took copious notes on Leah, her siblings, her family and her friends.  She reviewed the test results and agreed with Leah's paediatrician in saying that it is a very confusing group of symptoms that don't appear to point to anything in particular.  However - and this is what sets her apart from the others - she does not think it is a good idea to just sit back and wait!  She has ordered the MRI, realizing that the Neurologist will want one when we finally get the appointment.  She has also sent out a referral to the Neuromuscular Specialist at McMaster.  We should be able to get an appointment with him relatively quickly.  She did hasten to add that this doctor can sometimes be lacking in bedside manner but he is brilliant.  Even if it turns out that he can't give us a diagnosis, he will be able to assist us in ruling out things.


All in all, the appointment lasted almost 90 minutes.  Not once did I feel rushed, or like I was wasting her time.  She has even gone so far as to assure us that if the wait time for the MRI is too long, she will contact us so we can go over to Buffalo MRI and have it done there.  I think that what makes me feel the most relieved (in a weird sort of way) is that she feels the urgency that I do.  She understands my desire to get answers or at the very least rule things out as quickly as possible. 


I actually slept last night for the first time in weeks.  I don't have any answers yet, but I feel so much closer!

Back from the Paediatrician's Office

Our pediatrician is back from vacation - finally!  He has been my children's doctor since our oldest was less than a year about 12 years.  We bring him cookies at Christmas, the kids draw him pictures and send him cards through out the year.  We all love him.  Today....I could strangle him!

I just feel like he should be doing more, feeling the urgency like I do.  I want him to order every test he can think of, and when he runs out of those, find others.  I want him to figure this out and get us on the road to normalcy.  I want him to feel this bone-deep dread like I do.  Unfortunately, he isn't, he won't and he doesn't.

He agrees that there is something wrong, that her tests are coming back wonky - but not wonky enough to point us in the right direction.  He refused the MRI AGAIN, saying that he would leave it to the neurologist to determine if one is necessary or not.  He did however, resend the referral, send copies of her bloodwork and copies of her older brothers bleeding disorder info.  He itemized by day her symptoms and complaints, with the hope the info would expedite the appointment.  What he won't do is order any other tests, xray/US her stomach again or change his "wait and see" approach.

The Consulting Paediatrician from Hamilton has come through with an appointment for Leah for 2:30pm today.  We will be going to see her.  I requested copies of Leah's results for the last 18 months to keep on hand for emergencies.  I will bring her a set to review and hopefully get a second opinion.

Keep your fingers crossed for us!

Some Progress

As mentioned previously, I finagled an appointment at McMaster in the blood disorders clinic hoping we could parlay that into an earlier appointment in Neurology.  Well I am moderately happy to report that little plan may have worked. 

As I expected, after hearing a summary of Leah's recent problems and her medical history, the resident who was doing the pre-interview, started making the usual noises.  "That doesn't really sound like a problem we would deal with."  "This situation really sounds like a neurological issue." etc. etc.  We quickly explained to him we were there with the intention of ruling out problems and hoping they would be able to help point us in the right direction.

The resident left to speak with the doctor in charge.  When they returned to the room, the doctor in charge stated he wanted to help us expedite her neurologist appointment and to that end he would contact that department himself.  He also gave us the name and number of the neurologist he wants her to see so we can pester the office ourselves.  As well, he suggested we speak to our pediatrician and ask him to put some pressure on the office to get us in sooner.

Leah's nana was quite disappointed that they didn't even order bloodwork and could not be convinced to order the MRI, but I am quite happy that we got as far as we did - it is about all I expected.

I am not used to being this aggressive and it is not something that comes naturally to me.  In fact, just starting this blog and taking our struggle public goes very much against my usually very private personality.  But as hard as it is to overcome my meekness and reticence, I am willing to do that and much more to ensure that Leah gets the care and attention she needs so we can figure this out. 

As of yesterday, Leah has gone gluten-free.  We made this decision based on the loads of infromation sent to us by so many kind, caring individuals.  So many of you out there have stuggled or know someone struggling with Celiac disease or gluten-intolerance and have identified some of Leah's symptoms as common to those medical issues.  So in the interest of ruling out problems, we thought this would be a good place to start.  After all, it can only benefit her, not cause any more problems if we are wrong.  We had already gone dairy-free for her at the advice of her doctor, but there doesn't seem to be any change from that.

On the whole a positive day.  We have crossed the 1000 views mark and quickly closing in on 1200.  This whole blogging experience reminds me so much of that old shampoo commercial....."and she told friends, and they told two friends, and so on and so on......".  And quoting my friend Amie McGregor .."When the Internet is used for good .... Positive results already!"  Our positive results so far are as direct results from the advice, encouragement, prayers and information provided from each person who cared enough to contact us.  Thank you so much!

Overwhelmed

I am humbled and overwhelmed by the outpouring of support, love and information we have received in such a short time.  The blog has almost reached 650 views!  So many more brains are working on this problem and I appreciate everyone who has taken the time to read and post.  To think that in everyone's incredibly hectic busy lives, time was put aside for a little girl that most of you have never even met, thank you, thank you THANK YOU!

As I said, we have received so many tips, advice, links and information.  I will be spending today doing more research and compiling a list of items to take up with her pediatrician.

On the good news front, I used my charm and determination to get her an appointment at McMaster with the Hematology department.  They are the doctors that look after her older brother who has an un-named bleeding disorder caused by the platelets not being sticky enough - therefore causing an extended bleeding time, easy and bigger bruising and weak clots that can easily break away.

Anyway, I practically begged them to see her and they agreed.  She will be at McMaster bright and early on Wednesday.  If all goes well, and my husband is insistent and charming enough, maybe we can cut through some red tape and find a back door to the neurology department.

Keep you fingers crossed and the information coming!

Kate and Leah

Leah's Story - Part 3

I wasn't sure where to add this info, not sure if it is connected to her other symptoms or if the timing was purely coincidental.

Since early to mid May, Leah has been complaining of stomach aches.  They were minor, didn't cause her to change her routine, stop eating or interrupt her day.  They were more of an after thought.  We monitored her bowel movements to ensure that wasn't the problem.  She would have at least one bowel movement a day, usually very narrow in diameter, soft but not diarrhea.  She also came to me to complain of having "wet farts".  She couldn't control them and it would happen unexpectedly.  She was having these multiple times a day and required frequent changes of underwear and pants.

On June 12, 2011, Leah was very lethargic and complaining of worse pain in her stomach.  The pain was centred around her belly button but was not sore to the touch.  We monitored her for a bit and then decided to take her to the closest Urgent Care where they would be able to do bloodwork and xrays.  The blood work ruled out appendicitis and the xrays ruled out a blockage or obstruction.  The xray tech pointed out that she was very full of gas.  We were sent home with instructions to give her clear fluids, soups etc and to follow up with her doctor.

June 16th - I went to see the Doctor by myself, he promised he would look at the xrays but he was certain she was just a little backed up and to increase her fibre and fluids.

June 17th - the Doctor reviewed the xrays and said he could see some fecal matter in the pelvic region and lots of gas trapped behind it.  What he suspected was the gas was pushing past the fecal matter and pushing out some fluid and small bits.  The extra fluids from the IV should resolve everything.

June 18th - Leah was experiencing more stomach pain, but this time is seemed to be in different areas, this was attributed to the fecal matter moving along.  "No reason to worry".

July 5th - symptoms have not stopped or gotten better.  She is still having multiple bowel movements and "wet farts" each day.  Stomach pain consistently on a daily basis.  Brought her to see the doctor, he diagnosed Fecal Incontinence and ordered a stool sample and gave her some meds to "clean her out".  We will see how that goes.  It is supposed to take about two days and she needs to remain close to a bathroom, unfortunately, due to the activities of the other four children we have been unable to set aside two full days.  Hopefully tomorrow is the day!

Leah's Story - Part 2

So we were discharged, none the wiser about what was going on.  An appointment for an EEG in the distant future and more questions than answers, and Leah's very sore right knee were the only things we took away from the experience.

When Leah was first examined by the doctor (after she started talking again), she tried to explain to us that the inside of her head felt blurry.  Despite numerous attempts by myself, her Daddy, her Nana and her Auntie, the doctor and every nurse she came in contact with, we could not get a better idea of what this blurriness meant.  Frequently, it was accompanied by blurriness inside her eyes as well - although this does not affect her ability to see properly.  She also had daily complaints of dizziness and headaches.  The doctor and the nurses attempted to blame the symptoms and side effects on dehydration, sun stroke, low blood sugar, or anything else that came to mind, but I was able to counter each with a logical argument, pointing out she had already consumed a bottle of water and a bottle of Gatorade (it was play day and they were spending a good deal of time outside).  She had been wearing a light coloured hat all morning, and had made the required stops in the school at the Rest Stop.  She had just finished lunch (and had breakfast and a snack already) inside and hadn't been outside for long.

Leah missed school for the majority of June.  When she felt well enough to go, she rarely made it past lunch time.  Her first day back at school after her hospitalization she had to be picked up and brought back to the doctor.  He examined her but was unable to find anything wrong.  He decided to refer her to a neurologist.

In the 24 days since she was discharged, she has:

• been seen by her own pediatrician
• been examined his partner who is covering for him while he is on vacation
• been examined by doctors at the McMaster Emergency
• worn a Holter Monitor for 72hrs
• had a complete eye exam
• complained daily of varying levels of blurriness, dizziness and headaches
• difficulty sleeping through the night - very restless, disturbed by pain in various joints
• frequent urinary incontinence
• frequent pain in joints and back
• frequently feels cold when everyone else is hot
• almost daily has a period of time where she "wilts"* and then requires a long nap
• falls asleep anywhere - grocery store cart, anytime she is in the van etc
• fainted/collapsed at least once more

What she/we haven't experienced are any answers.  We have been told to wait for the Neurologist appointment which I have been told can take up to two years - we don't even have an appointment date yet.  We have been told to wait for her Dr. to return from vacation - he returns next Monday.  We have been told to wait and see what happens. 

That is the hardest to hear because what we see happening is that she is getting worse.  Just after she was discharged, the blurriness and dizziness would go away for short periods, now she has it all the time.  Her "wilts" are happening more frequently and she is requiring more and more sleep.  She routinely eats breakfast, sometimes eats lunch and rarely eats supper.  She now has difficulty riding her bike, she is wobbly and falls often.

I am not sure what it takes to get the medical community to realize that something is terribly wrong with her.  She used to be a vibrant, energetic, little ball of cheerfulness and activity.  Now she has brief periods of her old self, but more and more often I find her sitting on the couch or lying in her bed.  Before her eyes would sparkle with happiness, mischief and joie de vivre.  Now they are drawn, tired and surrounded by dark circles.   She is losing weight and complaining of pain in a different body part each day.

So again, I am putting it out there, if any of these symptoms sound familiar to you, please let me know.  If you have experienced this type of progression, drop me a line and fill me in.  If you know of valuable, reliable websites send me the link.  I have researched to the best of my ability but any help would be greatly appreciated.

Thanks
Kate and Leah


*Wilting - when this happens you can literally see Leah fold into herself.  She curls into a fetal position, her head hanging low, shoulders slumped, leaning on whoever is nearest.  Her eyes go flat, she becomes lethargic - completely drained of energy, doesn't talk much-relies on non-verbal answers, extra blurry, extra dizzy, headachy and sometimes nauseous.  Once this happens she falls asleep and will sleep deeply for 2-4 hours.  This happens randomly, doesn't appear to have anything as a precursor, no warning, no clues.

Leah's Story - Part 1

Leah was born on June 10, 2004.  She was very healthy, with the only concern being a slightly "loose" left hip.  We were assured this would firm up on its own.  She was and has always been a very healthy, cheerful, loving, friendly, happy-go-lucky, energetic little girl.  She has four brothers and two sisters, none of whom display any of the issues she is experiencing.

From the time she began walking, Leah would fall.  And I don't mean she would stumble, or trip over a toy, or lazily drag her toes, she would just collapse.....like a limp noodle.  She wouldn't throw out her arms to break her fall, or anything, she would just collapse.  It would happen so quickly and so randomly it was hard to actually *see* what was happening.  She would immediately leap back up and shout out a quick "I'm OK" and go back to what ever it was she was doing.  It happened so frequently it became a bit of a family joke.  "There goes Leah, tripping over dust again."  or  "Leah has inherited the K gene...K for klutz."

We began to take it a little bit more seriously when her teacher called to discuss the amount of falling she was doing during the school day.  We took her to see the pediatrician, he checked her out, ordered xrays for her hips (to see if the old hip issue was the problem) and blood work.  Other than the bloodwork, everything came back fine.  Her CK levels were elevated - this indicates that she has elevated muscle enzymes in her blood.  LiveStrong.com explains it very well here http://www.livestrong.com/

Over the next two years, we would return to the doctor to have her bloodwork rechecked.  Her CK level would fluctuate but remained high, as well, occasionally her thyroid levels were high.  The doctor continued to explain it away as a virus that lodged in her muscles that was taking a long time to clear up.  We had her assessed at the Niagara Peninsula Children's Centre by a Physiotherapist, Occupation Therapist, a student Doctor and a Speech Therapist.  The only findings was that she is hypermobile in the knees and ankles.  The conclusion, while the hypermobility maybe contributing to her falling, it was not the main issue and the team felt there were underlying issues causing it.

Finally, June 16, 2011, after yet another set of abnormal blood work, her doctor agreed to send her to a muscle specialist McMaster Children's Hospital.  He promised to complete the referral and send it off as soon as possible.

I had no sooner walked through the front door and called my husband to update him, than the school called.  Leah had collapsed outside on the soccer field.

I grabbed my cellphone and called the Doctor's office on my way out the door.  They agreed to see her right away.  I raced to the school, my heart racing.

I was met at the front door by the secretary and brought to the staff room, Leah was lying on the couch in the fetal position, with ice packs on her neck and ankles.  There were three teachers with her and everyone was very concerned.  Her eyes were flat looking, and she would only respond non-verbally, she couldn't hold herself up in a sitting position and I had to carry her to the car.

From what I can piece together from the students, her brother and the teachers, no one saw her go down, they don't know if she felt sick before hand, don't know if she shook (had a seizure), don't know if she hit her head on the grass or for sure how long she was out for.  All we know is that there was enough time for a student to get her brother's attention and for him to reach her and try to pick her up.  She was limp in his arms and not responsive to his voice.  Teachers were alerted and came at a run.  Leah remembers waking up and seeing her brother Connor looking down at her.  Connor states her eyes were fluttering and even though it was hot outside she wasn't sweating.  He also said she did talk a little bit but wasn't making sense.

We went directly to the Doctor's office, on the car ride over, she was still having trouble holding her head up, she was able to sip some Gatorade but still was not talking.  It took her over an hour to begin speaking again and over two hours to begin walking again.

She was admitted to the hospital for three days.  While she was there she received an EKG, a CT Scan and a variety of bloodwork.  Everything came back as fine except for the bloodwork which as usual had elevated CK levels - but lower than they had been the week  before.  Occasionally, her blood pressure registered as very high, but when it was taken again, it would be normal.  As well, even though I found the room to be quite warm and stuffy, she was continually cold.

She was discharged on June 18th, with no real answers but with a appointment for an EEG on July 21st.