More late breaking medical news...

Last Sunday we left our cozy home on the hill at 4am and drove three hours to Toronto so Brenden could have his annual MRI.  The purpose of the MRI is to monitor the lesions (yes more than one) in his brain.  Of the three known lesions there is one "of interest" in the left frontal lobe.  The same place my AVM aka Monster lives.

We spent the rest of the day being silly at the Science Centre, eating good food, playing in the arcade and swimming in the pool at the hotel.  By the time 9pm hit all three children were exhausted from our very early start.

On Monday we met with a Neurosurgeon who needs to consult a Radiologist to look at the MRI (Brenden's brain) closer and discuss their findings.... He is suppose to call me by mid February to discuss the results. If he forgets to call me then I should call him.  Yes, he really said that.  The best part of that particular appointment was Brenden playing "games" with the Neurology Fellow during his assessment.  He is also being scheduled for an EEG to check for the possibility of seizure activity.

Next stop of the day was the Chest Clinic to meet the doctor who will be testing our family for HHT.  If you want some quick facts about HHT click here.  I have already have been examined at a different hospital in the quest to find other AVM's or telangiectases.  I, thankfully, did not present any more than the one in my brain.  Brenden is known to have one in his nose and one in his mouth.  His heart is clear.  We know that because his cardiologist did an echo bubble study before heart surgery last spring.  His lungs should be X-rayed though we never discussed that... Not to self - make that happen sooner than later.

I think it safe to assume that Brenden and I do have this genetic disorder. Brain AVM's are extremely rare.  For both of us to have one without HHT would be extraordinary.  HHT is uncommon but not rare.   Telangiectases are basically an abnormal connection between small arteries and veins.  They can show up anywhere in the body but are most worrisome in the brain and lungs because if they rupture they will cause stroke or death. 

After answering endless questions at the Chest Clinic we were sent to the blood lab. They will first isolate the markers for HHT in Brenden and I then look for the same marks in the girls. Their blood has been banked for the occasion.  If they do not have it then their children will not inherit it.  If they do have HHT then their children will have a 50% chance of also having it. And so on and so on.

Every family with HHT is unique and it often goes completely undiagnosed generation after generation.



So what does all of this really mean?

More waiting. More questions. More living.

Sending love from the hill.

Steph

Falling into Fall - Literally

Our children have been back to school for about six weeks.  Everyone is settling nicely into their new schools, classrooms, activities and routines.  I miss their company but I welcome the silence.  It's the first time since becoming a parent I was happy to see my children return to school and it broke my heart to admit it, especially out loud.

During the past six weeks I could have written several blog posts but not one of them would have been nice.  I have heard myself say several times recently that if I don't remain angry then I will start to cry.  If I start to cry I may never stop.  It's a short fall. 

Did you know I spend all day most days alone but its not safe for me to be alone in public?
For a woman who is fiercely independent that is huge.

My brain to mouth filter is broken.  I swear more than a pirate and say what ever, when ever it comes to mind.  My friends accept that and therefore me.  Our children definitely have a more colourful vocabulary but are quick to scold me when required.  At times I am insensitive and unkind to the people I love the most.  I hope they know that is not my intent, ever. 

I apologize (kind of) to the well meaning family member who called and claimed she thought of me often during the past 2 years of zero contact.  I'm glad she was strong enough to accept my response through my blind rage.  I hope she shared my thoughts with other members of the family.  Two things will happen as a result.  I will stop receiving unwanted, guilt dripping telephone calls (too little way too late) and John will start getting the support he so desperately needs and deserves.

** PSA - for anyone who loves someone who is suffering the worse possible thing you can do is tell them you think about them all the time but then never act on those thoughts.  Send a text, email, pick up the phone, tell them you love them - do something. **

I continue to wander from symptom to side effect aimlessly.  Daily seizure activity is normal despite my high dosage of anti-convulsants.  No answers to why or how much longer this will go on are forth coming.  If I ever do have a stroke I will probably never recognize it for what it is because my face and arm are always numb.  The clinic where I received treatment for my AVM appear to be uninterested in my new limitations and abilities. As long as their treatment plan is on track they are pleased.  In an effort to preserve my remaining sanity I have asked my family physician to advocate on my behalf.  Maybe yet another opinion is required.

We have also been in touch with Sick Kids Hospital and a Specialist there will be taking the lead on  HHT testing for our entire family.  I'm tired of waiting for answers but the thought of further trips to the hospital is exhausting.  The thought of more testing, procedures and the 50% possibility of both the girls also having this terrible disorder leaves me paralyzed with fear.

John's mother has recently been diagnosed with brain cancer and has been scheduled for a craniotomy and followed by full brain radiation starting next week.  Once again my husband will sit alone in a hospital waiting for neurosurgeons and radiologists to determine fate of a woman he loves. 

It doesn't seem fare that one man should carry such burden.  He is the strongest man I know. I am grateful everyday he is mine.  Despite more than a year full of frustration, grief and hardship he still carries on without complaint.  He has accomplished so much professionally and here on our farm.  I am so very proud of him.



** John's Mother passed away exactly two months post diagnosis and 1 month after having the tumor removed from her brain. (1/1/13)

Patient update

AVM's are considered congenital, we are born this way.  In extremely rare cases Hereditary Homorrhotic Telangiectasia (tel-AN-jee-eck-TAZE-ee-ya) or HHT. 

In July 2011 I was referred to a doctor who researches HHT at St. Michael's Hospital in Toronto.  Given I have an AVM in my brain, some unexplained deaths and other members with AVM's in my family it was deemed necessary.  While at my day long appointment I had several tests searching for more AVM's in my liver, lungs, extremities and heart.  Though no more AVM's were found, during a ECHO Bubble Study they found something wrong with my heart.  Since then I have been under the care of a Cardiologist.  For eight months I have had several tests investigating the possibility of having Cardiomyopathy. 

Yesterday was results day.  I am very pleased to report I do not have it.  Happy dance!!!!  I met with my Cardiologist and he told me that during rest the left ventricle of my heart beats at the lower end of normal.  During activity it beats normal.  He told me I rocked my very awful fitness challenge.  You know the test where I rode a bike, sideways, breasts exposed, having an ultrasound with a cheering section present.  Fun times.  My heart muscles look healthy according to my MRI, the gold star in imaging.  I have been discharged from his care.  Deep cleansing breath. 

HHT testing continues.


Next stop of the day was to spend some quality time with my Neurosurgeon.  I had an appointment with Dr. S but my Neurologist Dr. C decided to join us.  Wow -  two members of my team giving me there undivided attention.  I thought for sure I would have the answers I desperately need.

Be warned this is were I begin to struggle. 

Though I am experiencing regular seizures, joint stiffness or weakness, confusion, vision loss, loss of speech etc etc etc  Dr. S is thrilled.  He believes that treatment is working.  Maybe, just maybe, my AVM is even gone already!  Of course we won't know for certain until we see my brain again in June, but maybe.

Now don't get me wrong if my AVM atrophies and is completely gone that's great. Less chance of a  homorrhotic stroke.  Right?  But when I questioned them further about my seizures and other side effects they seemed a little puzzled.  When I asked them about alternative measures to reduce or eliminate my side effects I was told to continue taking my anticonvulsants and maybe within time we could try and wean me off them and see what happens.  Those would be the same anticonvulsants that are not working now.

Thus lies my frustration.

My doctors measure success by the prospect I will, in time, be AVM free.  Therefore, their treatment plan was successful. Yeah them.

I measure success by the quality of life I am going to live post AVM and Gamma.

Next stop.... Naturopath.  YES, it's true :)
Now that's something I truly am excited about. 
Someone who will treat all of me;  not just my parts.

Sending love from the hill xo

What ever happened to the holistic approach?

Given my brain is a little broken as I write this my point may not be immediately clear.
Bare with me - I have a story to tell.

I have been trying to get a hold of my Neurosurgeon for a while.  Since I had my last  MRI and consultation in December my seizure activity has began to pick up - again.  I am experiencing frequent muscle weakness and sore joints on my right side.  My AVM is on the left and the swelling effects movement, among other things, on my right.  I had sent a bunch of emails, made a few calls, left some messages all of which were not responded to.  The hospital where I received Gamma Knife Surgery is not the hospital my Neurosurgeon actually works at full time so sometimes it is difficult to track him down.  As it turns out he was away for a few weeks. I decided not to pursue the other members of my team because they are not as familiar with my "unique case."  (I now have his personal assistant's email address so I cc everything to her at her request :)

A couple of weeks ago I visited my Family Physician and had her run a bunch of blood work.  She humored me but said, "you know it will all come back normal". I smiled.  I requested the lab send the results to her but also to my Neurology team at Toronto Western Hospital and my Cardiologist at St. Michael's Hospital. "Normal or within normal" are her go to phrases.  I no longer know anything and nothing in my life is within normal.

While at my appointment I shared with her my increase in seizure activity.  She suggested that maybe I go off an anti depressant I have been taking because it may decrease the effectiveness of my anticonvulsant.  Interesting.  I had already independently decreased my dose from 60 to 20mg before I had surgery so stopping wasn't out of the question. Done.  The doctor who originally prescribed this medication told me that with my "AVM diagnosis I have much bigger things to worry about now".  I assume she meant bigger than mental illness that haunts my family at large.  (Keep in mind we only have one brain).

Last fall I was referred to a Cardiologist because my Geneticist accidentally stumbled upon "something very wrong" with my heart while looking for more AVM's in my heart and lungs. Not vascular (AVM), not electrical (like B) but muscular.  The left ventricle was beating 50% slower than it should be. New problem unrelated to everything else. Really?  Unrelated?! I have learned that when you look for something you may actually find it or something completely unexpected.  I have had four different tests on my heart over the past six months. The Cardiologist has been wonderful but he too believes my AVM is more important than anything else at this moment.  I will finally hear the results and prognosis on April 4th. Sigh...  I have so many questions... What caused this?  How long has it been going on?  Does this explain why I don't recognize my own body?

Since I am already making the trip to Toronto to see my Cardiologist I decided to touch base with my Neurosurgeon - one more time.  I sent him a quick email to let him know I would be in Toronto on the fourth which happens to be his clinic day.  I reminded him of my previous emails, the increased seizure activity and told him I was no longer taking Prozac.  Within minutes he responded. "Prozac is known to cause seizures.  Please discontinue and come see me on the fourth."  Interesting!  It's never been a secret I was taking this medication.  Nor has it been a secret that I have regular seizures.  So why the AHA moment now?

I would like nothing more to hand over my medical files for the past 15 years to an eager medical student and say. "Here!  This is a list of symptoms and though they may seem unrelated I feel like everything is connected.  I am of one body and mind.  Please do not treat a part of me.  Treat me as a whole."

The Count Down

It's official. 
The count down has begun.
We have waited for months.
Now I wish there was a little more time.
In one week B is going to have his broken heart mended.

We are told the procedure will take four to five hours.
They will first find the accessory pathway, then repair it.
B's doctor reports great success. I have faith in him and the hospital.
However, we have the added complication of HHT. The unknown.
The likelihood of having to use a blood thinner is 50% depending on which side of the heart the problem lies.  That means the risk of a bleed in his brain is lower. 
The Neurologist gave his approval. 

I have never been more afraid in my entire life.

Fear makes you to do lots of things.
You reassess and reevaluate.  You question everything. You prioritize.
You take stalk of where you are, where you are going and who is coming for the ride.
You make choices in the best interest of you and yours.
Choices that not everyone will understand or respect.
I am making peace with that.

I am going to put my blog to bed for the week.
I am going to focus on whats truly important to me.
My family of five.  Our health and happiness.
The future.

ASD, AVM, WPW, HHT - our world in acronyms

Our son B is talented, funny and smart.  He loves comics, super heroes and video games. He is genuine, caring and gives the most amazing hugs.  B has Wolffe Parkinson White Syndrome.  He was diagnosed in April 2011 after complaining about a rapid heart beat and severe pain in his chest.  B also has Aspergers Syndrome and rarely, if ever, complains about pain.  At first we thought he may be having anxiety attacks; that makes sense since he has Aspergers. Thankfully we took his complaint seriously and so did his doctor.

We met with a cardiologist in October and decided the best treatment to correct Brenden's accessory pathway is by non invasive Surgical Ablation (not open heart surgery).  Given my diagnosis of an AVM in my brain it was decided that B should also be tested, just in case. 

A couple of weeks ago B had an MRI on his brain and has been scheduled for further testing on his heart and lungs.  On Monday I received a telephone call from Sick Kids Hospital confirming an appointment to follow up with a Neurologist.  I knew that meant one thing... they found something wrong.  On Thursday at a regular pediatrician appointment I read the MRI results myself.  During the MRI it was discovered that B too has an AVM in his left frontal lobe measuring 12mm at the largest point.

Instead of ME having an AVM (congenital, 1% of the population); WE have HHT, Hereditary Homorrhotic Telangiectasia (tel-AN-jee-eck-TAZE-ee-ya). Somehow hearing the worse news ever is so much more devastating when you hear it about your child.

For the past year I have been on an emotional roller coaster ride of questioning, testing, diagnosis, treatment, unpleasant side effects, anger, fear, and hope.  Now I know why...  IF I had never been diagnosed, then we would have had no reason to do further testing on B.  Without further AVM testing his cardiologist would have gone blindly into treatment.  Treatment that could have potentially some very serious risks.

So what now?

• Inform all members of my immediate family.  What they choose to do with this information is up to them.
• Meet with a Neurologist at Sick Kids Hospital on December 5th. See the MRI images and start making a plan.
• Back to Toronto for further testing on B's heart and my brain before Christmas.
• Meet with a my geneticist and a new one who works with children to explore how deep this runs in our family.  Which I am certain will lead to testing of our girls and my parents.
• Remember to breath, live, love and be grateful everyday.