Tag Archives: CDG

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!

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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.

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Purple Day

26 Mar

Today, March 26 2013 marks the 1st official PURPLE DAY in Canada.

Purple Day 2013

Purple Day was first recognized as the official day for epilepsy awareness in Canada on June 28, 2012, in an Act of Parliament put forward by the Hon. Geoff Regan, M.P. for Halifax West. Bill C-278 met with resounding all-party support and became the only legislation of its kind in Canada. The Act demonstrates meaningful support to the 300,000 Canadians living with epilepsy and helps to reduce the stigma and discrimination that is often associated with the disorder.

You can read more about this amazing day in Canada here at the Canadian Epilepsy Alliance website.

For those of you who aren’t familiar with Purple Day, it was created by a young girl – Cassidy Megan from Nova Scotia, Canada in 2008.  Cassidy created the idea of Purple Day to share her own struggles with seizures and to get people talking about epilepsy.

Epilepsy affects over 300,000 Canadians and over 50 million people worldwide. My little ladybug is one of those people.

I’ve not really written much about her seizures, but couldn’t think of a better day than Purple Day to begin.  One of the characteristics of many children with Congenital Disorders of Glycosylation CDG is epilepsy. When most think of seizures they tend to think of what is known as a Tonic Clonic or Grand Mal seizure which is often depicted on tv and in the movies. Truth is there are dozens upon dozens of types of seizures.

Ladybug has what are known as Myoclonic Seizures. (myo meaning “muscle”, clonic meaning “jerk”) These result in an increase in muscle tone.   Those suffering from myoclonic seizures typically react as if hit by a single jolt of electricity.  Usually in Ladybugs case her arm or arm and legs stiffen up and go straight out and her eyes are wide open and look up and to the left side.  These “episodes” happen anywhere from 1 to 10+ times a day, every day.  As each person is different it is a big gamble as to which medication will work.  Initially the doctors tried one called Vigabatrin. We were told it would make her a little groggy.  That was a huge understatement.  Thank heavens she was in the hospital because after 2 doses she went into a coma like state and we were unable to wake her up for several hours. She has since been taking Keppra (Levetiracetam) and the dosage has been slowly increased over the past year and a half. Up until this past month I hadn’t really noticed a difference in the quantity or length of the episodes, I say this because with this last itty bitty med increase she is down to under 3 noticeable seizures a day.

Myoclonic seizures are often only one manifestation of a mixed seizure disorder, and they can be very serious. For this reason we see Ladybugs Neurology team every 4-6 months and monitor and record her seizure activity daily.

Along with the decrease in noticeable seizures, Ladybug is also healing very nicely following her port removal and Mic-Key insertion two weeks ago. I must also add, that as of today she is  a whopping 20 pounds and 28 inches in length!!!!  Even though her little princess diva attitude is becoming more prominent as days go by, I’m so happy for each and every one of these little milestones.

Ladybug in all her glory wearing a purple dress for Purple Day.

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Pembe Bear

12 Mar

Tonight Ladybug helped me pack her very special hospital bag.  The bag was filled with necessities like diapers, wipes, pj’s, and a cuddly blanket. There was one more item in this bag that is by far the most important – it is a very special little bear known in our house as Pembe Bear.  Now Pembe bear has been with Ladybug since she was first-born, it is always by her side during each and every hospital stay, and even has its own medical bracelet to match Ladybugs.

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Just in case you were wondering, Pembe is Pink in Turkish.  It was one of the first words I picked up when I lived in Turkey, well that and Otur which means sit down.  As a kindergarten teacher this came in very handy with a class full of 4/5 year olds.

Back to Pembe Bear – PB has never missed a hospital stay or surgery and tomorrow Ladybug is scheduled for surgery.  Her PEG G-Tube will be replaced with a “big girl” Mic-Key G-Tube, and if all goes well and they are able to find a good line Ladybugs Port-a-Cath will be removed completely. If they aren’t able to find a good line there is a chance a new port-a-cath will be put in its place. I’m obviously hoping for the first.

I will be sure to post updates after the surgery.

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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.

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The Bright Side

9 Sep

 

For the past year I’ve struggled with friends and family having children after Ladybug was born – and then watching these children growing, crawling, walking, and talking. It’s not that I’m not happy for your children – I really am and can only imagine how amazing it must be. However, every once in a while when I’m watching these kids half of my daughter’s age walking and playing, I tend to tear up and get a little sad. Mostly because the only time I see my sweet Ladybug holding my hand walking side by side,  is when I’m fast asleep and dreaming.

That being said I have found a bright side to children 1-2 years younger than Ladybug growing at a faster rate than her.  Drum Roll……………….HAND-ME-DOWNS!

For the first time ever we were offered shoes that my cousins adorable 1-year-old daughter has grown out of. Seeing as Ladybug just grew out of her size 0 and 1 shoes this was fabulous timing.

My beautiful, nearly 3-year-old princess now weighs 19 pounds and is 26″ in length. She is certainly growing at her own rate but it seems to work for her. We will definitely need to build a shoe shelf to display the additions to her already growing shoe collection.

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Now I can’t wait for my cousins little sweetheart to grow some more. I am certainly not too proud to take hand-me-downs especially when they are given with extra love.

Thank you so much M&M! It really does mean a lot to us that you would think of Ladybug. xoxo

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Our Little Fish

1 Aug

The older I get the more I find that summer just  isn’t what it used to be. No longer can I play all day outside, ride bikes with a good friend to the country store for candy, or swim for hours in our pool until I’m shrivelled like a prune.

Aside from the drought like temperature, summer now-a-days seems to blend in with the rest of the year.  However, now I have the amazing gift of watching Ladybug enjoy many of the same activities that I did as a child.

We have discovered that she LOVES anything to do with water. Especially the sprinkler. I’m pretty sure the neighbours have discovered this as well as Ladybug laughs and babbles non stop every time those drops of water land on her face. Because of Ladybug’s port and g-tube we’ve had to be very careful with water play in the past – now that the port isn’t permanently accessed and the g-tube has healed she is free to go swimming in pools. (No lakes, ponds or rivers though, far too much bacteria especially for kiddies with G-I issues) And…..thanks to our FABULOUS neighbours we now have a pool to use when ever we would like.

Now, with the added help of the SwimWays Baby Float (which I love), Ladybug can kick and float around the pool on her own. She is always kicking her little legs even on land so it’s incredible to see her face when she realizes she can kick and move around in the pool.  I’m definitely thinking we’ve got a future Olympian in the house.

Here’s a little video clip of Ladybug’s first time in the pool. The video isn’t exactly motion picture quality – it was initially over 20 minutes long and at times comparable to the Aquarium channel on television. It’s a tad choppy but I’ve managed to collect a few of my favourite moments to share.  Our Little Fish

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