Mayo Moments

Friday, 27 January 2012

It's official!

Yes, it is official, Leah does NOT have Narcolepsy. 

Not that any of us are surprised by the news, we (family) never believed she did anyway.  But it is nice to have it verified by the professionals.

We went for the follow up appointment on Wednesday with the Sleep Specialist - very nice man.  Unfortunately we left him scratching his head because he can't figure out what this thing is either!

We go back to see him in three weeks for another follow up.  He has offered us the option of starting Leah on Dexedrine - a half tablet in the morning and if no results add another half at lunch.  The thought process is that it <might> help with her episodes of overwhelming tiredness, as Dexedrine is a stimulant and has proven very beneficial in patients with Narcolepsy.  He is hoping if we could eliminate the symptom of overwhelming tiredness, maybe she would be able to stay at school and not come home so often. We haven't decided yet if we will start her on the meds.  I need to do some more reading and weigh the pros and cons.  I have the prescription if I decide to go ahead with it.  He said if it was going to help we would notice a improvement quickly.  I just need to see if the benefits would outweigh the side effects.

He was also going to do some research into a Functional MRI.  In a nutshell, a regular MRI is to see the structural aspects of the brain, a Functional MRI allows you to see how the blood and enzymes affect the brain.  He needs to do some research because he had a niggling thought in the back of his brain, that there have been some advances/research on the role of a functional MRI and Narcolepsy/Sleep disorders.

As for Leah herself, she has developed a prolonged case of the "blurries"- since an episode on Jan 16th, she has maintained a constant state of her head feeling blurry on the inside.  Back in the spring when this all started, this had happened, and she stayed blurry for a over a month.  Since then, the blurriness had occurred only during an episode and then faded shortly afterwards.

In addition, this past weekend, Leah began having trouble with her right eye.  During an episode, Leah always says her right eye is bothering her, she rubs at it, tries to keep it closed, wipes at it etc.  She can't explain what the issue is, only that it bothers her or feels weird.  On Saturday, I noticed she continually placed her hand over her eye while reading me a story - she couldn't focus on the words unless she closed/blocked her right eye.  This carried over to watching TV as well.  It continued until Sunday when it resolved itself.  We had her checked out by the eye doctor again who says her eye/vision is just fine.

We have reported both issues to the neurologist, but no advice/info for why it is happening has come back to us.

So, while it still isn't an answer, we can check Narcolepsy off the list. 

On a side feels like we have been fighting for answers for SO long, but in reality it has only been 8-9 months.  In that time we have been to see a Paediatric Specialist, a Blood Specialist, a Muscle Specialist, a Neurologist, had a CT Scan, 2 EEGs, a EGG, worn a holter monitor, had a sleep study and a sleep latency study, had a MRI and genetic testing.  Considering wait times in Ontario, she has had incredible access to medical resources!  

I have to remind myself to continue looking on the bright side of could be much worse! 

I received that reminder on Wednesday shortly after our appointment.  We had stopped by Ikea for a quick shopping trip.  Waiting for the elevator, I was grumbling in my mind about the lack of a diagnosis, feeling sorry for myself about all the trips to Hamilton, all the worry and stress, feeling sorry for Leah for all the missed school and activities; the elevator doors opened and I saw a mother pushing her daughter in a wheelchair.  Even though she had a hat on, you could tell the girl was bald, her colouring wasn't good, she had big dark circles under her eyes, she was bundled up to keep warm in the store and had a blanket lying across her lap.  Cancer/leukemia immediately came to mind.  My eyes connected with the mother and we shared a brief smile.  I can not begin to imagine what struggles and heartache she feels;  it certainly put mine into perspective.  Yes it sucks that we are on this quest (it is now a quest in my mind, not a battle, or a struggle or anything else negative), it sucks that it has already impacted us as much as it has, but when I think about how bad it could be, I remember to count my blessings and not borrow trouble.


  1. Dear Kate, My name is Tanis and I was forwarded your blog by a friend who saw it on face book. I am so sorry that your family has to go thru this. We have a son named Zach who suffered for 7.5 years because of misdiagnosis. Our stories are very similar. After going down the cancer, nero, pulm, cardio paths the farthest thing from our mind was an Endocrine Disease...and that is exactly what is wrong with him. Zachs blog is "kidswithhypoparathyroidism"

    1. Hi Tanis, thanks so much for writing! I have read the entire blog and I have to tell you how much I admire you, your husband, your family and friends. You have remained strong, faithful and loving through so much.

      I have begun some preliminary research on hypoparathyroidism and while she doesn't exhibit symptoms to the extent that Zach does, there are some similarities.

      If I could pick your brain for a moment...

      I keep coming across this phrase "Twitching or spasms of your muscles, particularly around your mouth, but also in your hands, arms and throat". She has periods of time - days, weeks, months where she is constantly making a throat clearing sound, but she appears to be doing it without conscious thought. When asked about it, she seems not to realize she is doing it. Would that be the same thing as a muscle spasm in her throat? As well, I have a timeline of all the blood work she has had done. She has had low results for Alkaline Phospatase which according to "Several medical conditions may cause lower than normal levels of alkaline phosphatase. These include problems with the thyroid glands such as hypothyroidism or impaired parathyroid gland functioning." Does Zach ever have lower than normal levels of alkaline phosphatase?

      Thanks again for reading her blog and making contact with us. I hope you won't mind if I contact you from time to time with more questions?

  2. Hi Kate, Sorry for not responding sooner. It's been a bit crazy around here. I understand your frustration....totally. I'm a self proclaimed "phyco mom". lets email directly...I'm better at emailing...Zach's Alk Pho is to high right now but it also has been really low. It is a sign of Enodcrin issue. Email me
    praying for you Tanis

  3. Hi Kate, I just read thru the blog again. You are to see an Endocrinologist in may? Get to your peadiatrician and tell him to do the labs. Request that they check her PTH levels (parathyroid hormone level). Also have them do her calcium as well as an ionized calcium. They should do a phosphorus and magnesium check as well.
    Her symptoms "seem nerological" thats why the sleep studys, and MRI. HOWEVER if your body does not take in calcium because yout paraglands aren't producing any PTH hormone, your nervous symptom CANNOT function normally!That is why they are looking for a nerological cause...a tumour...but they havenot found one right? If you have a good peadiatrician get him to do the lab req. If there is something off (and I'd bet money there is) once the Endo see's the results, your appointment date will be moved up. Advocting, pushing these doctors will make you feel like you are going crazy. But if you KNOW in your heart something is wrong....DONT STOP PUSHING! praying tanis