Saturday, October 23, 2010

Ronnie's story or how an angel got her wings (part 2)

I'm back to finish this up and hope to make the second half shorter...

Because of the metabolic disorder diagnosis, we were referred to Genetics at the Montreal Children's Hospital.  At our first appointment, we were lucky enough to have a medical resident who had just come back from a conference on rare genetic disorders.  After seeing Ronnie, she asked to test her for Angelman syndrome.  The rest is history.  She is now 9 years old and going to a wonderful school that is pushing her skills and boundaries.  She has a great laugh, sense of humour and an incredibly joyful personality - could be part of her syndrome but I prefer to think of it as her personality.

Ronnie has had her fair share of ups and downs medically (never forget the 21 days she spent in intensive care hooked up to oxygen after contracting RSV, a nasty little virus), even when you do not include surgery when she was 10 months old to fix a duplex ureter birth defect...  thankfully in the last few years she has been strong and healthy - grows like a weed.

The last seven years have been quite the journey; one I could never have anticipated.  I've discovered that I am a much more positive person that I ever thought I could be and that my patience for self-pity and constant negativity is next to nil.  I've learned that when I'm down, my husband is up and rather than continue to feel like Hanzel and Gretel lost in the woods, we've managed to find those breadcrumbs and carve out a nice little life with our incredible children. 

That's it. 

'til next time.

Thursday, October 21, 2010

Ronnie's story or how an angel got her wings

So I thought it should put down Ronnie's story just in case someone ever wonders what she is all about.

Ronnie has Angelman syndrome.  This is caused by a genetic mutation on Chromosome 15.  She is actually missing an infinitesimally small piece of the maternal chromosome.  The more obvious side effect of the missing piece is what is explained as 'global development delay'.  As I write this she is a happy go-lucky 9 year old who does not walk independently, does feed herself and doesn't talk (although she does babble a heck of alot).  She does use a walker at school as well as a tricyle (but fair warning, she is a speed demon who doesn't quite understand the brakes or why she has to hold the handlebars...).  If you want more information, see the following links: http://www.angelmancanada.org/ or http://angelman.org/

When she was very little, I remember her older sister asking 'Ronnie's gonna talk next week, right?'  There was just no way to know at that time that talking was just not something she would ever excel at (unlike her sister).  She does have some sounds that mean certain things and ways to get some of her needs/wants known but it often becomes a bit of a guessing game.

Anyway, when Ronnie was about 9 months old or so I remember asking her pediatrician if there was a connection between the vaccines an autism (something that is still hotly debated) and he said No.  I remember telling him that I was worried that she wasn't hitting her milestones and that compared to her sister, she was really late.  His answer was that there was a range to these milestones and not to worry.  I also remember telling him that she would do this weird thing that looked like she was almost falling asleep for a second and then her head would basically bop back up like normal.  Again, he told me not to worry, she was probably just really tired.  Little did we know these were seizures. 

Anyway, fast forward to almost 1 year later and Ronnie is really sick with a big fever.  We were getting the girls ready for bed when I suddenly realized that she wasn't moving and was just lying there not responding to anything.  I picked her up and kind of tapped her chest... still nothing... her eyes were open and she was staring at the ceiling.  All of a sudden, like a cold slap, I realized she was having an absence seizure.  That was a scary sight that I will never forget.  Anyway, so we called 911 and they brought her to the hospital where she proceeded to stay for the next ten 10 while undergoing so many tests that she was stoned for like 4 days...


At the end of the stay, all we knew was that she was diagnosed with rule-out Mayple Syrup Urine Disease (metabolic disorder) which led us to Genetics at the Montreal Children's hospital and that she might have cerebral palsy.  Oh, and the seizures?  She was having an average of 50-70 a day and no one realized....

I'll have to continue tomorrow as it is Ronnie's bedtime and daddy is at Karate...

Thursday, October 14, 2010

Thank God for Babysitters

So Brian and I are going to an information session for Ronnie's trip to Disney tonight and I'm really looking forward to it.  It will be interesting to see how they have this set up.  I've looked online and was able to glean some information but it still remains a bit of a mystery to me.


Ronnie finger painting at daycamp
We've lined up a babysitter who will take care of Ronnie and Emma will be hopefully doing her homework despite the fact that she has no school tomorrow (I hope she'll be doing her homework); but this got me to thinking about what we did before babysitters came along - qualified ones for Ronnie.  It's really simple: we didn't do anything.  No date night, no "us" time, no escape (yes that is the right word) from the kids and home.  Oh, don't get me wrong; I love my kids but to get a break everyone once in a while is wonderfully refreshing.  And as much as the family wants to help, they have busy schedules.

In came Summer day camp.  Ronnie started to go about three years ago and it has been fabulous.  Not only does it allow us to have jobs (good idea all things considered), but the girls who work at the day camp are all studying special ed.  This gives them an opportunity for hands-on experience and it gave us a couple of really wonderful young ladies who do respite care for us. 

Best of all they really care about the girls.  Its really nice to know that I am leaving my girls in good hands..

'til next time.

Thursday, October 7, 2010

Commonalities between sisters

So I was at work today and we were all joking about noses and plastic surgery.  And no, there is nothing wrong with my nose; its perfectly acceptable.  Anyway, it got me thinking about the similarities between my girls. 

Leaving aside Veronica's disability, they are incredibly different people.  Ronnie is calm and easy going and Emma is high strung and prone to irrepressible fits of anger (AKA temper tantrums).  I think that would still be the case if Ronnie wasn't disabled but the one thing they do have in common is the dimple in their chins.  I remember trying to figure out where it came from.  We decided that much to my chagrin, it came from my father (long story that is soooo not worth the mental energy) as he had one.  Emma's is so big you could practically store food in there... although you'd have to be crazy to tell her that.  Hee hee

That's it; no big philosophical statement of purpose tonight.

'til next time...

Monday, October 4, 2010

Countdown to Disney & Dreams Take Flight

So sometime in late spring we were contacted by Ronnie's school to add her name to the list of suggested names for the upcoming Dreams Take Flight.  This organization takes kids from across Canada and I think some cities in the U.S. and flies them to Disney World for a day.  The kids chosen are those that are ill, disabled or socially disadvantaged (and no, wearing dirty socks every day for 2 weeks does not qualify you as socially disadvantaged Emma)...We sort of said OK never thinking she would actually be chosen..

link to Dreams Take Flight

To our utter shock (and her sister's utter disgust) she was.  One one hand I am extremely grateful for this opportunity that is being offered; it is an experience that I'm not sure we'll be able to give our girls no matter how much we would like to.  On the other hand, I so desperately want to be there to see her face light up when she gets her first glimpse of Tigger or Eyeore.  Word to the wise: Tigger and Eyeore, you might want to keep tabs on your noses and tails... she bites like a bulldog :)

I've also just realized that the trip is less than one month away and I'm a little stunned that my baby girl will be going on a plane without us and we will not be with her to share this experience.  Lets face it, it's not like she'll be able to tell us about it.  Enough maudlin' talk.

Have a wonderful time Ronnie-bins!!!!!

'til next time.

Saturday, October 2, 2010

Inspiration and laughter

So since I've started this blog I've been looking at all kinds of articles and blogs that other parents of kids with special needs have written.  None so far related to Angelman syndrome but that doesn't matter.  I think parents of kids with special needs (or special powers) are a unique family that are weirdly related by their experiences.  What strikes me is the positive spin most of the blogs have had.  Yes, there are negative moments but when you child has such difficulties it sort of comes with the territory...

Emma & Mya
Anyway, my point is that a lot of people ask me how I can have such a positive outlook.  When I talk about Ronnie, I feel proud and fiercely protective.  When I talk about Emma, I feel proud and fiercely protective.  Exactly the same. How can I be negative?  I have two incredibly wonderful daughters who are brave, intelligent and funny. They may drive me crazy, but they also make me laugh till I pee...

I have come to realize that there are two kinds of people: those that stagnate and those that move forward.  If you stagnate you will never be happy but always wonder why you are not.  If you can accept your child's disability and incorporate it into your daily life, then you are moving forward - no one gets left behind.  If no one gets left behind, how can you be negative?

'til next time.