Tag Archives: Congenital Disorders of Glycosylation

World CDG Day

16 May

Today, May 16th 2017, marks the 1st official World CDG Day.  Ladybug was diagnosed with Congenital Disorders of Glycosylation in October 2010. I remember every single detail of the moment the doctor told me. There wasn’t really much information out there when we received her diagnosis. I had come across a website before hand that had several pictures of other children who had CDG, and I found one little boy who resembled Ladybug down to the same pudgy little hands. Fast forward nearly 7 years and there are Facebook pages, charity organizations, and now an official World CDG Day. I can only imagine how far we will go in the next 7 years.

This is an incredibly important day for our CDG family. We need to build awareness in order to increase the interest of academia, and the development of research. There is currently no cure or treatment for CDG. We need to be able to inform more physicians and every other healthcare professional out there, knowledge is power. Most importantly building CDG awareness will empower families and patients alike.

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A couple of years ago the CDG family worked together to develop a logo that would represent all of us.

 

 

It was recently announced that to go along with our logo, the CDG awareness colour will be green.

So today Ladybug is wearing a green dress complete with green ribbons in her hair.

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On The Move

2 May

As I was getting ready to write this update, for some reason the theme song from Days of Our Lives played through my head. I can’t believe that it has been 5 months since my last post.  I guess time really does fly when you’re having fun.  The school year is winding down, and I’m now starting to plan our HUGE summer adventure. I won’t give too much away just yet,  but, we’ll be packing up the kiddos and taking our Airstream down to and across the USA – meeting some very special people along the way. I’ll be starting a new blog to share our journey with everyone too, so I’ll keep you posted.

Ladybug has been doing really well. She is excelling in school – and has grown very close to her adorable little classmate (who is quite the princess too). She is also making choices for which activities she wants to do during her day, and loves going for walks in her gait trainer. She has even started walking towards her classmate to be near her. *heart melted*
Here is a picture of Ladybug at school doing her physiotherapy in her gait trainer outside.

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There is alos another new fancy piece of equipment called a Dynamic Stander. I would have never thought that Ladybug would have liked this as she LOVES to move her legs, but, it is to entice her to stretch out her arms and touch the wheel to move around. She seems to be enjoying it as well.

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Ladybug also got to be the “swing tester” for her school. They are getting a new fully accessible swing and she got to go to the company that makes it to try it out and give her seal of approval. According to her teacher, she got quite upset every time the swing stopped, which doesn’t surprise me as Ladybug is becoming very good at communicating her wants and needs now.

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Happy 7th Birthday Beautiful

3 Dec

7 years ago today we welcomed our itty bitty little Ladybug into the world. She was born at 03:56 and in true Ladybug fashion – made a very grand entrance after a very long labour. Knowing her now I wouldn’t expect anything less as she LOVES being the centre of attention, just as every princess should.

DSC_0027At the time we didn’t have a diagnosis, and were told that the chances of her surviving the first year were beyond low. None of that mattered. We had our sweet tenacious baby girl and our life, although atypical for many new parents, was perfect.

Today we celebrate Ladybugs 7th birthday. In the past 7 years she has taught me patience, strength, courage, and perseverance.  Everyday brings forth a new struggle, but everyday she takes those challenges and kicks a**!  She is doing amazing in school, and has even started to take steps in her gait trainer. Ladybug adores her little brothers, and often smiles and laughs when they play together.
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Happy 7th Birthday Beautiful! dsc_0591

 

Tenacity and Resilience

16 Oct

Last week I came across an amazing video called The Brain that Changed. It shares the story of a man in Australia who has Cerebral Palsy. His family pushed the known boundaries and explored Neuroplasticity.

Neuroplasticity, also known as brain plasticity or neural plasticity, is an umbrella term that describes lasting change to the brain throughout an individual’s life course. The term gained prominence in the latter half of the 20th century, when new research showed that many aspects of the brain can be altered (or are “plastic”) even into adulthood.   Wikipedia

Andy’s nervous system was still “plastic” enough that he was able to change and do many things in adulthood that he’s never been able to do before.

It is incredible to watch his transformation, and the story reignites hope that Ladybug can too achieve the unimaginable.

Then just yesterday I was sent another video. It is the most recent ad campaign for SickKids Hospital in Toronto, Ontario. It is raw, powerful, fierce and inspiring. Yes, it might be hard to watch and is definitely not your typical soft music fluffy bunny children’s hospital campaign – but, it gets the point across loud and clear. It’s time to fight even harder and conquer.

I feel like the universe is trying to send me all these messages lately about Ladybug.  We have put a lot of her therapies on hold these past couple years as they are extremely expensive.   I’ve always known that deep inside there is a little girl waiting to break free, we just need to find the right therapies and tools that can help Ladybug.  It’s time to regroup, take a fresh look at our budget and maybe even plan a fundraiser.  Between my tenacity and Ladybugs resilience we WILL move mountains.

Happy 1st Day of School 2016 – Year 3

7 Sep

I just put my little Ladybug on the bus to head off to her first day of school.  She was very excited last night when I told her she was going to school the next day. I envisioned her waking up with a huge smile, kicking and laughing while getting ready. Then chatting all the way to get on the bus.   Ya – not so much. When a princess is used to sleeping in until 08:00 all summer, the 07:00 wake up is a huge adjustment.  I’m sure once she gets to school and sees her teacher and all her friends she will perk right up.  We are truly blessed to have a school that is beyond a perfect fit for Ladybug so close to us.

Heading off to school isn’t just an adjustment for Ladybug, my biggest little man was a bit upset that he couldn’t go to school on the bus this morning too.  He seemed to calm down once I told him we were heading to Nana and Papa’s farm instead. He is set to start Nursery School in the next couple months, which I know he will love.  Who am I kidding, I will too!  The countdown is ON!!!!

This past summer has been great! Very hot, and a little crazy with 3 little ones – but great.  I will update all of our exciting adventures and news in the coming months.

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In Honour of Rare Disease Day – Help Me Get CDG Recognized as an Official Day.

29 Feb

Today, February 29th 2016 marks the 9th International Rare Disease Day.

5 years ago I published this blog post dedicated to Rare Disease Day.

When my daughter was first diagnosed with Congenital Disorders of Glycosylation, there wasn’t a lot of information or even support for families like myself.  At the the time of her diagnosis she was the only girl in the entire world known to have her subtype. Now, thanks to the wonders of science and social media, I have been in touch with a family in the USA who has a beautiful little girl with the same subtype as my little Ladybug. Through the dedication and hard work of my CDG family, there are now CDG conferences both in North America and Europe and several Facebook groups that have become an amazing means of support for so many.

I couldn’t think of a better day to announce that the CDG families are working towards making May 16th World Congenital Disorders of Glycosylation (CDG) Awareness Day! Please sign our petition to The World Health Organization (WHO) here. 

I also encourage you to share this blog post with all of your friends and family.  You can easily share via Twitter, Facebook or email with the buttons at the bottom of this page. The more signatures we get the faster we can make this dream a reality.

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Fighting an uphill battle.

21 Apr

I started writing this post shortly after Christmas this past year. It is a very difficult thing to talk about especially because it is so close to home. I originally wanted to title it 11 days, because in 11 days one family’s life changed forever. I’ve decided to broaden things a bit as I’m hoping this post will educate others about how dangerous a simple virus whether it be a cold, flu or GI bug can be to a medically fragile child.

This past December a brave little man from our CDG family was admitted to the hospital. For our kids this is a common occurrence, especially around the cold and flu season. This little superhero was otherwise stable in the weeks previous to this admission. He was probably in contact with someone who had a bad cold or some other type of virus that his body couldn’t fight off. Whatever disease a medically fragile child might be fighting chances are their immune systems are extremely low to non-existent. This is the case with my little Ladybug and other children with Congenital Disorders of Glycosylation.

After a few days in the hospital pneumonia set in. The entire CDG family was pulling for a speedy recovery for this little guy even though we knew it would be a struggle. He had overcome so much previously, everyone knew he was a fighter.

Around 9 or so days after admission his mother was told that he now had ARDS. Acute Respiratory Distress Syndrome is the sudden failure of the respiratory (breathing) system.  It causes a build up of fluid in the lungs and when there is fluid in the lungs it means less oxygen is able to reach the blood stream. This in turn will deprive your organs the oxygen they need to function.  Despite everything no one lost hope – our kids are fighters.

Day 11, December 24, 2013. Christmas Eve. This amazing, strong, adorable, little 5-year-old CDG superhero gained his angel wings.

This was devastating on so many levels for me. First, our CDG family is very close and although many of us have never met in person we still love each and every single child with CDG as if they were our own. Second, because this happened in as little as 11 days to a child with the same disorder my 4-year-old daughter has.

I’ve said it before and I’ll mention it again. I don’t want to keep my little Ladybug in a bubble. I know that when she goes to school, the grocery store, birthday parties etc. that she is always at risk for catching something. This is a risk I’m willing to take to give her the best “normal” life she can possibly have. I do however feel very, very strongly about others knowingly exposing my child or any other medically fragile child to any kind of sickness.

If you have had a cough and sound like a barking seal, runny nose with green slime, fever, diarrhea or vomiting within the past 24-48 hrs please, I beg you, stay home!  That plate at Easter dinner can be set aside and dropped off, your child will eventually get over not going to the birthday party because they have a really bad cough. It’s this kind of selfishness of people that absolutely boils my blood.

My hope was and is, that this post will help in some way open people’s eyes as to how dangerous viruses can be not only my sweet little Ladybug but to every child with a low immune system.

 In loving memory of Brady and all of the beautiful CDG angels. 10299503_10201623277615055_1704163598_n