So, it's been quite some time since I've written and quite a lot has happened: I was on strike for three months (not a pleasant time), Veronica continues to grow and gain skills, we've decided that we are going to attend the FAST gala next and we discovered that Emma has been cutting herself.
No one ever tells you that your so-called 'neuro-typical child might very well be the more difficult one. 8 years ago we received this horrendous diagnosis of Angelman syndrome and the doctors tell you what they know (and eventually you figure out they didn't really know what they were talking about); this diagnosis that will take over your life and leave you feeling utterly helpless. Docs do what they do best and prescribe physiotherapy, occupational therapy, speech therapy and just about every other kind of therapy you can think of. And before you know it they send you out on your own to deal with the diagnosis.
No one ever thinks that the rest of the family has also just been diagnosed with this horrible truth.
I have no idea if this has anything to do with Emma's cutting but I figure it must come into play at some level. She's always been highly embarassed by her sister. God, on some level I get it. You just want to be a normal child and not stand out for the wrong reasons and here you've got this sibling that no matter where you go, people stare... On the other hand , she's got this sister who is so loving its not funny.
So we discovered she was cutting several months ago. I got suspicious when I realized that she was coming out of the shower in the morning and getting dressed right away - I mean with her cardigan and everything. So one morning, I asked her to pull up her sleeves; and she refused. Eventually, I tackled her and pulled up the sleeves and saw the marks. As horrified as I was I was relieved: at least we knew what we were up against. We did lots of research into how to help and we decided on a tack that seemed to work. We were checking her arms on a regular basis and talking to her about it and after a while it seemed to get better.
Then last week, I get a phone call from her gym teacher saying that she hasn't participated in class in about a month and that when she tried to get her to wear a gym uniform, she came out wearing her cardigan on top. Seriously, and you're trying to hide this? Then on Friday, I received another call from one of the guidance councillors. He must have been surprised when I said I knew she was cutting. What I didn't know, was that often once the first marks are found, cutters move to another part of the body. She had: her thighs look like ribbons... This was discovered when we confronted her about some bloody kleenex in her pocket and blood stains on her sweatpants.
I'm at a loss; she won't talk about why, she doesn't want to talk to anyone, she just wants to pretend it never happened... Well, we can't leave it like that. Tomorrow I have to make a phone call to the councillor and tell him that yes, indeed she has moved to her legs, I have to call our employee assistance program to get a referral for a therapist - we need to figure out how to deal with this.
Oh, my heart hurts for her.
Showing posts with label Angelman syndrome. Show all posts
Showing posts with label Angelman syndrome. Show all posts
Sunday, March 18, 2012
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.
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...
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...
I'll have to continue tomorrow as it is Ronnie's bedtime and daddy is at Karate...
Friday, August 27, 2010
Angels
So in my first post I referred to the angelic presence in my life. My youngest child, Veronica (aka Ronnie) was diagnosed with Angelman syndrome just after her 2nd birthday. This is a genetic disorder that leads to a global delay in development. In other words, both her motor skills and her neurological development have moderate to severe delays. She is now 9 years old but is, in a lot of ways, like a 2 year old child. Very dependent on everyone for what we call "activities of daily living".
Don't let the name of the disorder affect your thinking however: she is a very energetic and fun loving kid. She much prefers to play with people than toys and she really loves to interact with others. She can be manipulative and bratty and knows just which buttons to push to get her sister really mad. But she can also be cuddly and sweet and have just the right touch to get your attention. One of her favorite activities is getting to climb into bed with mom and dad on the weekends and just jump around and cuddle and play. Once she gets her cuddle time, she's good for the day..
Having two kids is challenging; throw one in with special needs and you discover just how strong a person you can be. My husband and I have this sort of ongoing conversation: do babies pick their parents or do parents get the kids they need or, third option, is it just fluke? He thinks that the kids choose their parents and I'm not sure. One thing I can say is that having a child with special needs helps you put things in perspective.
I often get people asking me how I can be such a positive person with what we've had to go through. Part of me wants to say: "Well, what do you expect? Am I supposed to be depressed constantly because my child is disabled?" and part of me wants to say "You can't stay miserable forever; that's no way to live". I think I usually end up saying the last one. We both certainly went through the phases and reality is that you do go through a grieving process. This child will not be able to live out the dreams I've imagined for her. That is my heartbreak.
However, you can't stay depressed or angry forever. You need to incorporate it into your life in a way that lets you continue to live while making space for this new challenge. Nothing is insurmountable.
Til next time.
Don't let the name of the disorder affect your thinking however: she is a very energetic and fun loving kid. She much prefers to play with people than toys and she really loves to interact with others. She can be manipulative and bratty and knows just which buttons to push to get her sister really mad. But she can also be cuddly and sweet and have just the right touch to get your attention. One of her favorite activities is getting to climb into bed with mom and dad on the weekends and just jump around and cuddle and play. Once she gets her cuddle time, she's good for the day..
Having two kids is challenging; throw one in with special needs and you discover just how strong a person you can be. My husband and I have this sort of ongoing conversation: do babies pick their parents or do parents get the kids they need or, third option, is it just fluke? He thinks that the kids choose their parents and I'm not sure. One thing I can say is that having a child with special needs helps you put things in perspective.
I often get people asking me how I can be such a positive person with what we've had to go through. Part of me wants to say: "Well, what do you expect? Am I supposed to be depressed constantly because my child is disabled?" and part of me wants to say "You can't stay miserable forever; that's no way to live". I think I usually end up saying the last one. We both certainly went through the phases and reality is that you do go through a grieving process. This child will not be able to live out the dreams I've imagined for her. That is my heartbreak.
However, you can't stay depressed or angry forever. You need to incorporate it into your life in a way that lets you continue to live while making space for this new challenge. Nothing is insurmountable.
Til next time.
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