Archive | July, 2013

Fighting the System

26 Jul

When we began looking at custom equipment for Ladybug a couple of years ago, I never imagined having to search for funding options due to the exorbitant Canadian prices, let alone fighting to get these much-needed items.

After pushing for over 1 1/2 years Ladybug finally got her custom standing frame last week.  One would think that if several specialists state that your child really needs a specific piece of equipment that the supporting team (physiotherapist/occupational therapist) would naturally be on board.  I guess I was living in this wonderful medical dream world where when my daughter needs a standing frame we try a few out see how she does and order the one that best suits her.  This wasn’t the case – at least not for the first year.  Ladybugs support team initially told me that the standing frame would be detrimental to Ladybugs body, and would not be suitable at the time as she was not weight-bearing and had little to no head and trunk control.  4 months later we went to see the orthopaedic surgeon (amazing, amazing, amazing doctor). Again, she asked why Ladybug still didn’t have a standing frame – I explained what the physio/occupational therapy team told me and she proceeded to write a note stating that it is very important not only for muscular development but also bone development that she get a standing frame.

This wasn’t just something I woke up one day and said “I think I’ll get Ladybug a standing frame because they look cool and a lot of her CDG friends have them.” I did my research, talked to private physiotherapists, other parents, and ALL of Ladybugs specialists were pushing for her to get one.

I’ve come to learn that this is all a part of the system. Everyone flexing their proverbial muscles to see who is the biggest, strongest and smartest.  Let me tell you,  just because this system exists doesn’t mean you can’t stand up and fight it. You know your child better than any doctor,  physiotherapist or occupational therapist. Don’t leave things up to a professional who sees your child a few times a year to tell you what your child can’t do. All they see is what she can’t do. I see Ladybug as what she will do and how I can foster these skills to make things happen.

I think my breaking point came when I  met with Ladybug’s neurologist who said enough is enough. Ladybug needs a standing frame – this is developmentally necessary and it’s obvious that her body and mind want to stand so she needs the tools to help this.

I would almost describe my transformation as Incredible Hulk like. I’m not the type of person who enjoys confrontation, that is until it comes to my daughter. Our next physio appointment I came prepared – I brought doctors letters, pictures of children nearly identical to Ladybug in a stander, and statements from other parents saying how much the stander has helped their child. I was not backing down. It was pretty much the same song and dance until there was an agreement  to try her in an old “Hannibal Lector” style stander they had sitting in a back room. It was dusted off, Ladybug was put in it, it was raised up and VOILA!!!! Ladybug loved it. She was weight-bearing, had great head control and best of all was the surprised look on the therapists face as she said “She’s doing really well in the standing frame.” I wanted so badly to stomp my feet and say I told you so. But the grown adult in me subtly chuckled inside. I’m certain I had the biggest “I was right” and “I’m so proud of my little princess” smile on my face though.

After bringing in a couple new standers for Ladybug to try out, the best fit was the Leckey Squiggles Standing Frame. It’s by the same company as her wheel chair and even came in pink.


Ladybug still has a bit of growing in the length department so she can properly use the tray – until then we’ll try to rig something up so she can enjoy playing while standing.


I don’t think it matters to her though, she absolutely loves being in the standing frame.  I’m certain with time more and more milestones will be reached, all because I didn’t back down and in the end had the strongest muscles to fight the system.

3 Words You’ll Never Hear Me Say

12 Jul

I can’t count the number of times I’ve noticed these 3 words on someones Facebook status or have heard them mentioned in a conversation. I can however tell you that it drives me absolutely, positively bonkers when I hear or read them.

What three words in our English language could possibly irk me enough to write about?

“My Life Sucks!”

I’ll admit I’ve had my low times. You know the ones I’m talking about – where you feel like you just can’t catch a break, it’s one thing after another, and nothing ever seems to go your way.

I don’t think there is a single person out there who hasn’t experienced one if not all of these feelings. It’s how you cope and handle these situations that will determine if you get through them.

A long time ago I discovered that it is all about perspective. No matter how bad I think I have it, there is always another person out there who has it a million times worse – and you can bet your ass they aren’t going around saying “my life sucks!”

Household appliances can be replaced, cars can be fixed, relationships can be mended & broken hearts do heal with time.

Next time you feel like saying “my life sucks” volunteer at the local children’s hospital or just turn on the news. Imagine for one second that your child was diagnosed with a fatal/incurable disease, your home had just been washed away by flood waters or your entire life was being ripped to shreds by war. That broken dishwasher, flat tire, family feud and break-up will all of a sudden pale in comparison.



Discovering CDG SLC35A2: A Parents Perspective

5 Jul


Even though it’s been a few months since we were first told  that Ladybug has CDG SLC35A2 I still find myself in awe of it all. In my previous post I mentioned there was more to it that I wasn’t ready to talk about. From the initial diagnosis we were told that CDG was a genetic disorder and that Ladybugs father and myself were carriers. Makes sense! With CDG there is a 1 in 4 chance that a subsequent child will also have CDG. I was heartbroken. For as long as I could remember I wanted at least 2-3 children. I’m not the gambling type and was far too worried about putting another child through the pain that Ladybug had been through, so we decided she would be our only child. It was always so difficult to hear of others around me becoming pregnant because it was a constant reminder of what I would never be able to experience again. I desperately wanted to be able to enjoy a worry free pregnancy like those around me, and this would often bring me to tears. Now 1.5 years later I had come to accept this and we began the long process to become foster parents.

CDG SLC35A2 is caused by spontaneous somatic mosaic mutations in the X-linked gene. I’ll break it down for everyone.

Spontaneous or “de novo” – a genetic mutation that neither parent possessed nor transmitted.

Somatic – ‘of the body’ Post fertilization.
Mosaic – Two different types of cells – For the boys 1X chromosome and 1Y (flashback to biology class). In their X-chromosome, there are normal cells and CDG SLC35A2 cells – With Ladybug having 2X chromosomes 1 has the mutation and 1 doesn’t.

“But sometimes that normal X is randomly inactivated. This is called X-linked inactivation and all females have this. It’s mother natures way of making sure males and females only have 1 active X-chromosome.” Bobby Ng Sanford-Burnham

X-linked Gene – The Gene is on the X- chromosome.

The most significant finding of Ladybugs diagnosis in my point of view, is what Bobby (one of our CDG superheros) from Sanford-Burnham Medical Research Institute told us:

“We have confirmed that all parents and unaffected siblings do not contain mutations.”

I think I have read and re-read this one sentence dozens upon dozens of times and even now it hasn’t quite sunk in. For the past year and a half, I fought through tears and heartache while I came to terms with not having another child. Then BAM!!!!!! Just like that everything was different. In that first 24 hours my thoughts went from oh my gosh let’s have another baby, to – this spontaneous somatic mosaic mutation happened once what if it happens again?

I have many dear friends who are fighting with infertility and aren’t able to have children. The dichotomy of it all is that there are moments I feel like it’s trivial to be so upset about this. I should be happy I was able to have at least one child and leave it like that. Right?!?!?

To be honest, because it’s a new discovery there are still so many unknowns and the whole thought of trying for a second baby scares the bejeebers out of me.  Not only because of the risk of more miscarriages, but there is also a chance that Ladybug’s CDG may have been caused by a germ line mosaicism – when either the egg or the sperm have the mutation.(Not good) As opposed to a somatic – Post fertilization. (A little better) It’s hard to know for sure unless we spend tens of thousands of dollars on having this tested or take a leap of faith and try again.

For now I’ll leave everything in the hands of the universe, and be thankful everyday that I have my beautiful little Ladybug.
Halloween 2010 Mac Kids ICU