Follow Up appointment

Well today's appointment kinda stunk.

We waited so long for today - 7 months!, gave up Leah's chance to go to the cottage with the family, pinned our hopes on getting some sort of new information, but nothing, nada, zip, zero, bubkis!

Basically we are back to square one, the neurologist is stumped, he is setting up appointments with a Paediatric Cardiologist, an ultrasound of her heart (echocardiogram), a week's hospital stay for a VEEG-Video EEG Monitoring, another kick at the can with a holter monitor, and possibly some Autonomic Testing to try and induce an episode.  When I asked how soon ANY of this was going to occur, he replied MONTHS and to schedule our next appointment for after all the tests and appointments were done.

So basically, the plan is this, wait, wait, wait, and wait some more.  Have a test.  Wait a bunch more, have another test, wait a whole lot more.  Meet with the Cardiologist to tell him/her everything we have told all the other doctors and specialists, schedule some more tests.  Wait, wait, wait, wait some more.  Have another test or two.  Make an appointment, wait for 3-6 more months, have the appointment.  All in all it will probably be another year at least before we see him again.

This is why it is so SO important that we get Leah to the Mayo Clinic.  In one week she will see doctors and specialists from a variety of disciplines, she will be tested in so many different ways, results read and acted on immediately, our scheduled appointments adjusted as needed to see who we have to see while we are there.  In 8+/- days we can accomplish what it will take months or years to accomplish here!

We are heading to Minnesota!

I have submitted an appointment request to the Mayo Clinic!  And even more crazy?  They responded with a request for all of Leah's medical records and test results!  And even crazier???  We have an appointment date! Praise the Lord!  His hand is felt in all we do.  Thank you everyone for the prayers you have already sent up on our behalf.

Leah's first appointment with the Mayo Clinic in Rochester, Minnesota is August 7, 2012!  (Yes THIS year!)  They say to expect a stay of 5-8 days.  She will be considered an outpatient though so she will be able to come back to the hotel room with me each night.  From the letter they sent...

Length of Stay: The average length of stay for patients to complete a routine medical exam is 5 to 8 business days, but the actual time spent at the clinic will depend upon the complexity of your case and appointment availability at the time of your appointment.  It can be difficult to predict in advance.  In some circumstances, your evaluation, surgery or treatment may involve a return visit.

She needs to show up that first morning having fasted and they will get going right away.

What to Expect at the Appointment:Your child's Mayo Clinic visit will begin with a thorough evaluation of the medical concerns. The primary physician, who will be responsible for coordinating your child's care, will order additional tests or consultations with specialists, based upon your child's medical needs.  After testing has been completed, the physician will review the results with you and make final recommendations.

Now our biggest obstacle is arranging the finances.  Please, please, please continue to keep her in your prayers.

Pettiness

Things are not going well with the school.  On Monday I dropped the letters off in the office and then went over to the School Board to drop off the letter there and try to pick up some hard copies of the info I found on the website.  


No sure why it was such an ordeal but in the end, instead of having pamphlets I ended up meeting with the Coordinator of Special Education - the person I was dropping a letter off for.  We met for about 1 hour, I outlined my concerns about Leah's situation and how the school had responded.  


He gave me the usual song and dance about budgets, resources etc. "In order to free up EA time for Leah, we would have to take that time away from some other child".  I didn't appreciate being made to feel guilty for requesting help for my child so I reminded him that in order for that child to have gotten that time, it was probably taken from another child."


By the end of the meeting we had concluded that developing an accommodation IEP for Leah, and arranging some sort of resting area for her to use daily at lunch were not unreasonable requests and there should be no problem in getting those things set up.  As for dedicated EA time, I would have to meet with the principal, ERT and teacher to discuss it.  He volunteered to attend the meeting if I felt it was necessary.


My job prior to the next meeting was to get one/some/all of her doctors to write letters outlining her condition, restrictions, needs and prognosis.  Not that the letters would guarantee anything, but having documentation from them would strengthen my case.  I also needed to get the Sleep Specialist to finally sign the documentation that allows the school to give her the medication at lunch. 


He advised me that he would be calling the principal to let her know we had met and to give her the highlights of our conversation - something he would have done if he had only received my letter anyway.


Well first thing Tuesday morning I get a call from the secretary on behalf of the principal - they would no longer be able to give Leah her medicine until all necessary paperwork was completed.  I had expected some kind of foolishness from the school - but really, won't give her the medicine?  The medicine that is supposedly keeping her in school more often?  If you want to strike out at me fine, but you are mad at me, not my daughter.  


Anyway, in other news, the Sleep Specialist has decided there is nothing more he can do for Leah so he has discharged her back to Dr. Bonsu and Dr. Callen.  So now I have to hound them for the necessary paperwork and appointments.


Everyone in the family has been sick with this horrible respiratory bug that is going around, I have had to bump Leah from her paediatrician's appointment twice now so he could see one of the other kids.  This Friday, we go to see him again, and hopefully can accomplish everything on my list.

Appointments! Medications!! Report Cards!!! Oh My!

As I mentioned in the last post, Leah was prescribed Dexadrine as a method of *hopefully* keeping her more awake and alert during school hours.  On day 3 of the meds, the school called to say she was exhibiting some new symptoms and they weren't sure what to make of it.  She complained of her right eye (what is with that RIGHT eye?!?!?!?) being very blurry and the right side of her face feeling funny - which after much questioning really meant numb.

I attempted to get an appointment with our paediatrician, but not only was he not in the office that day, but none of his partners were either!  I tried to call the neurologist but he is on vacation and apparently so was his nurse although her voice mail didn't say that, so I left a message asking for advice.  Against my better judgement I took her to our local hospital.  Now, don't get me wrong, I used to work for this hospital, I know that it has many good attributes, but I also know that the waits are long, the nurses (not all of them) can be rude and lazy, that some of the doctors need refresher manners courses and sometimes they just aren't all that effectual.  But as with anything else, some days are good and some days are bad.

Well that day certainly wasn't my day.  We had an hour's wait just to be triaged.  I explained to the nurse that she has a neurological history, that she is currently being followed by her pediatrician and 3 specialists,that this was a new medicine with new symptoms.  I told her I was concerned about it possibly being a TIA She took Leah's temperature, checked her O2 and heart rate, asked me to guess at her weight, gave her a priority level of 3 on a scale of 1-5 and sent us back to the waiting room. Then we waited another 6 hours to see the doctor only to be told that since she seemed to be doing better that maybe it was "only" a complex migraine, but taking into consideration her neurological background he really couldn't be certain and we should follow up with her doctor!  Oh and maybe stop the meds until we spoke with the specialist. Well, by that time I had had no sleep from working the night before, it was now 7pm.  I was so tired I was nauseous and between the lack of food, stress, frustration and worry, I was cranky and very very close to becoming weepy.

 But I held it together and very politely told him what I thought of his hospital, his triage nurse, his emergency department and our treatment.  I explained to him that the symptoms he was seeing at the 7 hour mark were quite different than they had been when we first arrived. I told him it was unconscionable that a child with a history of neurological issues, presenting with neurological problems should be left for 6 hours and not even been checked on by a nurse!  Not once did someone come and see if she was okay, or if there were any changes!  That it was inexplicable that the triage nurse did not do any other sort of check on Leah.  Didn't check her eyes, blood pressure, balance, or even a set of very basic neuro checks.  He was very understanding, apologetic, attempted to explain away the long wait and the triage nurse's inexperience with children etc.  But in the end, none of it mattered.  Her symptoms persisted until the next day and then disappeared.....as usual.

On Monday we went for her follow up visit to the Sleep Specialist - he didn't feel the medication caused the symptoms and that it might just be a progression of whatever it is Leah has.  He had neglected to look into the functional MRI, and restarted her on the meds.  We go back to see him on the 27th.

Just because this picture makes me smile!  It is from her sleep study from a couple of months ago- she woke up with the cords wrapped around her neck 2x and the wildest hair I have ever seen on her!  Obviously she is a restless sleeper!

Report Card
For many students, getting a report card like Leah's would be great.  She had a B- average, a few Cs, an A or two but mostly in the B range.  For Leah who previously has had an A to A- average, I was not happy.  The teacher commented right in the notes, that Leah is constantly struggling to catch up due to her frequent absences - 29.5 days.  But that only captures the time missed when I have called in to say she won't be in school.  That number is deceptively low - it doesn't show all the days that I get a phone call shortly after lunch saying she needs to come home.  In reality she is at  50+ days missed.  If an average school year has 190 days in it and we are only in February (60% of the year), that means there have been approximately 114 school days so far.  So in reality she has missed about half of her year already!  This year's marks may not look so bad, but what about next year? And the year after that?  What about the skills she needs to learn and master this year for the foundation of all the other years?

At the parent teacher meeting we discussed keeping Leah current.  She states that any work completed at home can not be graded.  She does not use a lot of work sheets in her teaching repertoire - instead she uses a lot of hands-on, experiential learning - which is awesome....if you are in class.  When Leah is at school, the teacher makes an effort to spend time with her trying to get her caught up, or explaining a new concept.  But she says Leah's ability, focus and endurance differ greatly depending on the day and how she feels, making it difficult.  And of course, she has the rest of the class to teach.

I spoke with the Resource Teacher and the Principal and asked if it was possible for Leah to lay down somewhere to take a quick nap - maybe that would help her stay in school more days.  Logically, their outright refusal, cover their a$$'isms, counter arguments make sense.  No place for her to lay down, no available staff to watch her, can't assume responsibility for determining severity of her symptoms... yadda yadda yadda.  They were quick to suggest I pick her up, take her home for a quick nap and then drive her back to school.  In a perfect world that would be great, but my world doesn't work that way as of course I am supposed to be sleeping all day!

Unfortunately for them, I don't feel like being logical anymore. I am tired of being understanding, logical, patient etc.  I want answers for her, I want help for her, I want some type of educational intervention.  Out of everything this I feel I can make happen.

A family friend is an Educational Assistant and I picked her brain a bit. Because her marks have not fallen "enough", she wouldn't be tagged for an IEP - which is ridiculous!  Why wait until she is SO far behind before helping her, wouldn't their time and effort be better served keeping her current?   Even though Leah does not have a "label" yet, the combination of her health, attendance and the school's insistence that she never be alone (must always have another student with her), our friend believes she fits into the parameters to have some EA time dedicated to her.  Unfortunately she doesn't work for our school board, but her sister does!  She is putting us in contact with each other so I can be fully prepared when I approach the school and/or board demanding requesting  these interventions.  Yippee!  Insider information!

We also spoke with the Neurology clinic and requested they move up her follow up appointment.  Now that Narcolepsy has been ruled out, I see no reason to wait the 3-4 months for the genetic testing to come back.  It is time we moved on to investigating whatever is next on their list.  I have to wait until Dr. Callen comes back from vacation before I get an answer.

Yet again, it is another LONG winded update without any real news, just more issues and questions...so disheartening.

As always, if you made it this far THANKS!  Please continue to pray, pass this on/discuss with your friends and families.  Someone out there knows the answers Leah needs, we just have to get the information to them!

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!

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!