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.