Tag Archives: Congenital Disorders of Glycosylation

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

We’re Back!

28 Jan

I have been quite lapse in my blog postings these past few months…time just seems to fly by.

4 Years Old

On December 3rd my sweet little Ladybug celebrated her 4th birthday. It was a quiet family celebration as there were so many illnesses going around we didn’t want to risk her getting sick.

Ladybug has completed her first term of preschool. She absolutely loves going, and her classmates all adore her. I was amazed to see how fast the kids all took to Ladybug. She is certainly not short of friends.  September to November was a little rough, as Ladybug would go to school for 2 mornings then be off sick for 2 weeks. By the time the end of December rolled around she managed to stay healthy 3 weeks in a row. Huge milestone as her immune system is slowly building.

We’re in the midst of getting a communication device ordered. It’s basically a first step to enabling my princess to communicate the way I know she can.  The “switch” is like a large button that we can record words or phrases on. If we wanted to sing Old McDonald had a Farm I could record E-I-E-I-O on the switch and when it came time for that part I would give Ladybug a verbal cue that it was her turn.

It will look similar to the one in this picture.

Big MacWe’ve been able to test one out and Ladybug responded so well, we knew it was our first step on her communication journey.  She actually responded close to 100% better on music related prompts than ones with toys or games.  I guess my musical genes have been passed on to my little Ladybug – time to get that baby grand piano I’ve always dreamed of.

There is so much more to catch everyone up on, however, I’ll do it bit by bit rather than inundate everyone in one post.

I will end this by giving a little teaser and saying that you will definitely want to keep an eye out for my future posts, as there are so many exciting updates to come!

Look Mommy, I Did It!

1 Oct

At 3 months a typical child will begin to roll over from front to back and lift head when on tummy. Around 5 months this child will probably be able to lift his head, push up on his arms, and arch his back to lift his chest off the ground and roll both ways . Some might be able to do this ahead of schedule, others will lag a few months.

As everyone knows Ladybug is certainly not your typical child. When other kids her age were putting everything imaginable in their mouths and tasting all kinds of new foods, Ladybug was discovering how to pull out the feeding tube in her nose. While these same kids were taking their first step Ladybug was glowing in the dark from all the tests that were performed to find the cause of a GI bleed.  This has been, and will most likely continue to be a hard pill to swallow – but as the years have passed I have learned to celebrate, cherish, and capture each and every milestone. I’ve always been and always will be one who takes a lot of pictures and videos. The way I see it,  you will only regret the pictures you never took.

When Ladybug discovered her G-Tube and was swinging it back and forth in her hand my first instinct was not to remove it from her hand but to grab the camera. There are so many unknowns with CDG that I will not pass up any opportunity to capture a single moment in Ladybugs life.

This past weekend Ladybug was playing in her Little Sensory Room and kicking up a storm.  The bells were jingling non stop, then it got quiet for a few seconds. This didn’t surprise me, usually Ladybug takes mini rests in between all the craziness the Little Sensory Room creates. A minute or so later, all I heard was non-stop laughing. I looked around the corner to find Ladybug completely out of her Little Sensory Room. She had rolled out onto her tummy, hands under her chest and had managed to push her head up all by herself.

Insert fireworks, loud cheering, maybe a marching band playing We are the Champions, and one unbelievably ecstatic mama here. 

It may have taken my sweet Ladybug 3 years and 10 months to achieve this, but the look of accomplishment on her face when she lifted up her own head screamed “Look Mommy, I did it”.  That in and of itself, was worth every single day, month, and year of waiting for this huge milestone to occur.

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3 Years and Thriving!

23 Aug

It’s almost unimaginable to think that 3 years ago today I joined the blogging world. What’s even more incredible is how far not only my little Ladybug has come but how far I have come.  3 years ago I was struggling with the biggest fear of all – possibly losing my baby girl. Ladybug was so fragile and so sick, all I wanted was a little a peace of mind. I tend to keep my emotions inside until I can comprehend and make sense of everything, but I was becoming so overwhelmed. I knew I needed an outlet and it was on August 23, 2010 I found mine. Beginnings. 

Today for the first time since Ladybugs Mic-Key G-Tube was put in, it came out.  The nurse brought Ladybug to me in one arm and the Mic-Key in the other. The inflatable balloon portion was still inflated. All that went through my mind was I can’t let the hole close up. I went into super mom mode grabbed Ladybug, grabbed a spare tube set, took off her dress and saw for the first time this teeny tiny, itty bitty hole where the tube should be. I had a dear friend whose daughter also has a Mic-Key briefly talk about how she has had to put a new tube in at the craziest of times so I tried to remember what to do. I picked up the shiny new Mic-Key and after a little bit of wiggling I popped it right back into the hole, then inflated the balloon with sterile water to hopefully keep this sucker in its place.

After all was said and done and many cuddles were given I looked down at the old tube still inflated and my heart broke. It must have hurt so much, but my little Ladybug calmed as soon as I began to put the new tube in.

3 years ago I never could have imagined changing a G-Tube let alone changing one by myself.  At that point I was still grasping bolus feeds with a 60CC syringe through her NG tube and we were months away from getting her CDG diagnosis.

Ladybug has been doing quite well and will be starting school part-time this September. The time has flown by and I am ever so excited to see what new adventures the next 3 years will bring. I’m sure by then I’ll be able to change a Mic-Key tube with my eyes closed, one hand behind my back, and balancing on one leg.

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Discovering CDG SLC35A2: A Parents Perspective

5 Jul

CDG SLC35A2

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.
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1 in 7 Billion

23 May

7 Billion The current worlds population (and growing)

3 The number of incredible children in the world who share a new type of CDG.

1 The number of girls in the whole wide world who have this new type of CDG.

That 1 girl is my beautiful Ladybug.

Several months ago we received an email that essentially changed our lives. When Ladybug was first diagnosed with CDG we pleaded with the Ministry of Health (Canadian Government) to cover a genetic test for her. Their response was and I quote “what difference will it make”. The governments thought was it won’t change her prognosis so what’s the point.

I was devastated that our “wonderful”, “fabulous” Canadian health care system had the gall to say that. Many thoughts crossed my mind – write to local and provincial politicians, call this woman at the Ministry of Health and tell her exactly why it was so important. Not long after I got my first taste of what it would be like to fight for my daughters rights, a post was made in a CDG group I belong to. The Sanford Burnham Institute was asking us to contact them if we would be interested in further testing to discover our children’s subtypes. It’s so cliché , yet so true … “ When one door closes, another opens ”

Now I had to try to convince our genetics team to take samples and send them to California. Fortunately our entire team at Mc Master Children’s hospital are phenomenal so they didn’t even give it a second thought.

Fast forward many, many months and the email arrived. The initial email was incredibly cryptic and read something like. We’ve made a discovery. stop. It’s a pretty big deal. stop. Can’t say too much now but will let you know soon. stop. Of course I might be exaggerating a teeny tiny bit. But that’s what it felt like.

The first portion of the HUGE news was that Ladybugs little friend in Jolly Ol’ England was indeed the same subtype as she. DUH…..yes I just said duh! We (being the two parents) have felt this in our hearts the moment we began chatting and sharing pictures of our kids. Then there was a third little boy who was also the same subtype from the USA.

Here is a picture from the Sanford-Burnham Science Blog – The Beaker that featured our 3 special kiddos. The new CDG finding was also published in The American Journal of Human Genetics and Science Daily to name a few. If anyone would like to see these please feel free to email me.
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The next portion of news was that these three beautiful children – whom I love to bits, have a brand new type of CDG. CDG SLC35A2. This explanation will require a blog post of its own which will come soon.

It was and still is A LOT to take in. There were quite a few new developments on top of how rare she really is that I’m still trying to digest, and when the time is right I will share them with everyone.

Feeding Tube Awareness Week

9 Feb

This coming week which is February 10-16th, 2013 is

FEEDING TUBE AWARENESS WEEK!

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Feeding Tube Awareness Week was first launched in February 2011 By the Feeding Tube Awareness Foundation.

Each year the week focuses on a few topic areas designed to give parents, caregivers and tube feeders the opportunity to share their experiences with tube feeding with friends and family through social networking sites, blogs, viral and traditional media. Increasingly, parents and siblings have been using Awareness Week to give presentations in their children’s classrooms.

Long before the CDG diagnosis came to light, Ladybug was diagnosed with failure to thrive. Failure to thrive (FTT) is a term given to infants and children who do not meet the growth rate that his or her peers meet. Yes, it is a bit of a generic description but one that we dealt with for quite a while. Basically Ladybug was showing signs of severe reflux or GERD(Gastroesophageal Reflux Disease), and was refusing to eat anything. It was at 1.5 months that Ladybugs first feeding tube was put in.  The lovely NG Tube (Naso Gastric) This tube runs directly from the nose to the stomach.

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What started as a quick fix to help her gain some weight became an everyday part of our lives.  The NG tube truly was a lifesaver for Ladybug, and for the first few months she didn’t bother with it.  That is until she learned it only took a split second to pull it out. It didn’t matter how we taped it, what type of tape we used, or even how much tape we used, those teeny tiny fingers always managed to pull that tube out. After numerous trips to the ER to have the tube put back in, we began to discuss with the doctors about a G-Tube.  The G-Tube (Gastric Tube) is surgically placed into the stomach. Seeing as Ladybug still wasn’t eating orally and was beginning to throw up often it was the obvious next step.

The G-Tube was inserted in October 2010. Ironically this occurred the same month she had a GI bleed, bowel resection, port insertion and the CDG diagnosis.  October 2010 was a very emotional month to say the least.

Even though Ladybug is slowly starting to try food orally, sippy cup with water, Breton Crackers, squash and chocolate, the G-Tube is her sole source of nutrition. Thanks to the G-Tube and an amazing dietician, she is also steadily gaining weight according to her very own growth curve. The other great thing about Ladybug being a “Tubie” is that her best friend has one as well.  “Bean” the other Diva of 3C at Mac Kids is always excited to see Ladybug and compare their identical feeding tube clamps.

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Another tubie mom couldn’t have said it better when she posted that she would rather questions about our kiddies tubes than stares.  I truly LOVE when little kids look at Ladybugs feeding tube attached to a little backpack inquisitively.  I can only imagine what their honest minds are thinking.  I always give them a smile if only to let them know it’s ok to be curious.  The teacher in me can’t wait for a chance to explain what it is not only to the kids but also the parents.  If I can pass on anything it’s for adults to remember the inquisitive little child within. Don’t ever be afraid to ask questions – the majority of people are more than happy to answer them.