No News is NOT necessarily Good News.

The old adage "No news is good news", doesn't always apply.  In the case of this blog, no news just means I am feeling too defeated to type the same thing over and over again.  

Our much anticipated and long awaited trip to the Endocrinologist was a bust.  After doing yet another hour long medical history and ANOTHER full physical, all the same questions and answers, all the same physical checks (down to 49lbs! crap!), tests and responses, we got the same answer as always...."We have no idea".  or "There is definitely something going on with her, but it isn't something that falls within our specialty."  or in this case, "There is absolutely no hormone in the human body that can cause the types of issues that Leah experiences."  

As a bonus, they agreed to do some blood work, to repeat it every 6 months and to continue following her for the next couple of years to see if anything develops -  but basically they threw up their hands and shrugged.

Based on bloodwork and medical history they ruled out Ehlers-Danlos Syndrome, Parathyroid disease and Fibromuscular Dysplasia - I had added these three to my list due to recommendations and research.

For Leah it is the same old thing - usually misses at least 2 days a week of school, the cooperation at the school is still less than desired but we are at lease getting the bare basics of what we requested.

We are struggling so hard to find a balance for Leah.  If she does "too much" at night, she doesn't have the reserves to make it to school the next day.  Currently, too much amounts to a 30min swimming lesson and 20-30 minutes in Games Galore (running, playing games in the YMCA gym) on Monday nights - it doesn't even push her bed time back, but it is too much.  I don't think she has made it to school on a Tuesday since Christmas!  If she plays outside "too much" after school, she doesn't make it through supper and may or may not make it to school the next morning.  She already misses her outside playtime during lunch at school while she is taking a nap, and soon will be kept inside the school on the hot/humid days.  She had to give up gymnastics, she only goes to the house of her best friend to play, no other play dates, she has to stay within sight of the house or with an older sibling at all times.  We are already (hotly) debating letting her go on the family vacation to the cottage this year - my instincts say no, but my heart says yes.  

When does she get to just be a kid and have fun?

Following along on that thought, I came across an excellent story written by a lady with Lupus - it is about how she finally stumbled upon a way to describe what having a chronic illness is like.  It is called "The Spoon Theory"

                                                                

It has spread like wildfire among the disease/syndrome forums.  I am in complete agreement with her explanation as it exactly illustrates what Leah goes through.  As such I have added this photo of Leah.  She is now an official "Spoonie"!

Please keep Leah in your thoughts and prayers as we await a decision from the Mayo Clinic.  A month or so ago, I stumbled upon a chain of links while doing research that led to a Mayo Clinic Self Referral form.  Feeling a little foolish and a whole lot nervous, I filled it out and sent it off.  I sent along the introductory letter I have created and keep up to date with all of Leah's symptoms and medical history to give to each of her doctors.  A couple days later they requested copies of Leah's medical records, scans, MRIs, doctor's letters, THE WORKS!  I organized all that info and sent it off.  A couple days ago I was notified it is being reviewed by a doctor and they will decide if they want to see her.  They have an entire department set aside to deal with "International Patients" and really make an effort to keep us informed of where we are in the process.  My understanding at this point, is that if they feel Leah could benefit from their expertise or that THEY could benefit from diagnosing, researching and treating Leah, than we would go to Minnesota to be seen by some of the best medical minds in the world!  Since she seems to have stumped the ones in Ontario, lets move onto the ones in Minnesota!  

Happy New Year!

Happy New Year readers!  Our family had a wonderful Christmas holidays and we hope you did too!

Paul and I both had the Christmas week off work and we were able to spend a whole lot of family time together - something that our work schedules don't usually allow. 

Leah only had two episodes over the holidays, they were both during times she was in a warm, busy, loud environment.  We thought we had the pattern figured out based on the last 4 episodes....then she had one today.  And of course, today was different and threw my theories out the window.

Our middle daughter Hannah gave the family a night at the movies as a Christmas present, and we were finally able to go en masse to see Alvin and the Chipmunks - Chipwrecked.  Leah was loving the movie, she was happily gobbling popcorn, sipping some sprite and giggling away.  I was feeling confident that we would have an uneventful time - the theatre was not overly crowded, the temperature was a little on the low side, the sound as always was loud but not painfully so.  Then slowly, slowly, she started leaning into me, then laying against me, then on my lap, then draped across me in her boneless way.  Feeling smug and secure in my understanding of her pattern (at this point she is ALWAYS extremely cold) , I grabbed a coat to bundle around her -  and she responded by complaining she was too hot and took off her sweater!  Well darn it!  What the heck is going on now?  She told me she was dizzy but not blurry, her right eye was "bugging" her and she was tired.  When the movie was over, we carried her out to the van and she was in bed as soon as we got home.  When I was tucking her in she told me her head was starting to get blurry and she just really wanted to sleep, she was very groggy, her voice was wispy and she was having a hard time maintaining her side of the conversation.  My poor baby.


On the positive news side of things, we have a date for her sleep study and the requisition for her genetic testing and Lyme disease bloodwork.  Leah and I are to present ourselves at 9pm on Monday January 16th, at the sleep clinic at St. Joesph's Hospital..  She will hooked up to all manner of monitoring devices and then asked to sleep normally - seems a little contradictory to me, but I guess they still get results.  Then in the morning she remains hooked up, but can be mobile.  We will remain in a dimly lit environment, with little to no stimulation.  Leah will be asked to take a nap every 2 hours - they will only let her stay asleep for a maximum of 20mins each time.  They will do this 4 or 5 times through out the day.  We should be on our way home by 5pm on the 17th.  These results along with the genetic bloodwork (which takes 3 months to get results) will either prove or disprove the working theory of Narcolepsy.

We now also have another symptom to add to our list - Periodental Abscesses.  Leah had another one over the holidays and true to form it occurred over the New Year's long weekend when access to her dentist and/paediatrican was impossible.  We got her on antibiotics as soon as we could and got her to her dentist first thing on Tuesday morning but it was too late, they had to remove the tooth where the abscess was located.  They do this for a number of reasons

• in order to clean out the abscess 
• to ensure it does not spread to other sockets
• to ensure it does not damage the adult tooth underneath
• to ensure it does not spead into the blood stream or the jaw bone

While it really really sucks that she had to have another tooth pulled, I understand the reasons behind it.  We had them fit her for a Space Maintainer since it was one of her back teeth and very likely will take a long time for the adult tooth to grow in.  Keeping in mind that her two front teeth were pulled for the same reasons about a year ago and still have not grown in!

If you add the abscesses to her symptom list, a new syndrome pops up - Ehlers-Danlos Syndrome.  This actually may make sense if enough reading is done and the family history on my side is taken into account.  And of course if you take a good look at this picture!  :) At the very least it gives us another direction to search in.

She does this without even thinking, with no effort, no pain...just sitting around colouring, or as she says "just getting into a comfortable position Mom".