Tag Archives: Congenital Disorders of Glycosylation

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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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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Mensch

8 Feb

With my most recent post being about a horrible experience we had with a doctor – I thought it was only fitting to brighten things up and write about an amazing doctor and person.

When ladybug was first admitted to the hospital this past summer, the ER doctor was kind, very thorough and was open to talking about the tests he wanted to run and the results as soon as they came in.  Little did I  know that this doctor would be  looking after my princess during the first couple weeks of her stay at McMaster Children’s Hospital.

Like I mentioned in Watching and Waiting everything started with ladybug having a very fast and irregular heartbeat, and the thought was that it was caused by an infection of some sort.  Then fast forward a bit and the GI bleed began.

Throughout these couple of weeks one thing remained constant and continuously gave me peace of mind; it was a doctor, the same doctor who had admitted my daughter when we were first seen in the ER.

He was always checking in on us even if he wasn’t on rounds, he pushed to have tests done that other doctors didn’t really see a need for, but quite possibly saved my daughter’s life. I often gave a little sigh of relief when I would see him walking down the hall first thing in the morning, because I knew my ladybug would be in the best hands.  One thing really stood out, and that was every morning the first words out of his mouth were always “how are you?”, it may seem like a common question but rarely got asked by the doctors during our stay. Those three words helped me feel at ease with everything else that was going on. He never seemed like he was in a rush when talking to me, always took the time to see how I was, and as soon as any x-ray or ultrasound result came back he would take me over to the computer and show me the results whether they were normal or not.

His name is Dr. Brian Levy.

I held and hold him in such a high reverence that I cried when I found out he was moving on to Labour and Delivery.  Here I was  holding everything together and keeping strong for my baby up until that point, and now crying over a doctor leaving? Maybe it was that last little straw that caused all the marbles to fly everywhere, maybe it was exhaustion, hormones, or maybe just maybe I had become so accustomed to having a caring doctor I really was upset that he was leaving us.  I even asked if he would be willing to switch from being an ER doc to being a pediatrician, sadly for us it was not his calling.

When Dr. Levy or Dr. Brian as our fav nurse and I use to call him moved on to L&D he still popped in a couple of times to see how we were, then we never saw him again.

I always wondered if he had moved on to another hospital, and if maybe one day I’d run into him on one of our regular hospital visits. All the while knowing that I wanted to somehow let him know what an incredible doctor he is.

What better way than to write this post to honor him.  The hardest part was trying to come up with a title. I decided on the word Mensch.  Mensch comes from the Yiddish and literally means “man.”  The real meaning is deeper, because, to be a Mensch means to be a “Good Man.”  The Oxford English Dictionary has an excellent definition:
In Jewish usage: a person of integrity or rectitude; a person who is morally just, honest, or honourable.  [OED]

I couldn’t think of a better title for a post about a man who to us represents what every doctor should be.  A person of integrity, honest, and honourable.

Thank you so much, Dr. Levy.

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What Not To Say

31 Jan

Today was the long-awaited GI (gastrointestinal) appointment for Ladybug. Without going into graphic details there hasn’t been a stinky tushy to change in 5 days, and she has started to spit up again. With the CDG, her “short gut” from the bowel resection, and the past GI bleed,  it’s so hard not to think that it’s something more than a case of constipation.

Upon our arrival at the GI clinic ladybug was weighed, measured, meds were increased to correspond with her recent weight gain, and her little round buggy belly was pushed and poked.

I knew that she may have poor bowel sounds (the lack of a hollow drum when you tap you finger on her tummy), but really didn’t expect to hear that there was something amiss with her liver.

Here is an appropriate thing to tell a mum after you find something in an examination: “her liver feels a bit large and hard. It’s difficult to tell for sure as her torso is so short. Let’s run some tests just to put my mind at ease.”

The following is what he the doctor actually said: “her liver feels really hard – you should have waited until after the appointment to get her blood work done – so I could have added some things.” Then he proceeded to sit down and when I finished dressing my daughter he began to explain that “she is at risk for liver problems and if she were to have liver failure, because of the CDG she most likely would not qualify for a liver transplant.”

I felt like I was going to be sick, I could feel all the blood rush out of my head and actually had to support myself on the desk next to me. Why on earth would he ever say something like this without knowing for sure if my princess does indeed need a transplant. The rest of the appointment was just a bunch of babbling. The best way to describe the doc talking afterwards was like the teacher in Charlie Brown.

It didn’t matter what he said all I kept hearing over and over was “would not qualify for a liver transplant.”

I’ve said many times that I’m not a doctor or a health care professional, BUT I am a mum – and common sense tells me that one should NOT talk about transplants or not qualifying for them unless one has substantial proof that it’s needed.

So now here I am thinking all these horrible thoughts that no mother should ever have to think because a doctor didn’t think about what not to say.

I ended up stopping in at my family doctors office on the way home, came into the office which had just closed with blood-shot eyes from crying the whole way and tear stains on my cheeks to try to get a second opinion.

All I can say is thank heavens that there are wonderful doctors out there that have the common sense and bed side manner to put my mind at ease. She actually said it’s hard to tell because ladybugs torso is so short, and suggested we get an ultrasound and next time we’re at the hospital to get her port-o-cath flushed add some extra blood work. There was no talk of transplants, or not qualifying. There wasn’t even any hint of panic in her voice.

The aching pain in my chest had subsided and I took a deep breath and began to wonder why anyone let alone a doctor would ever mention this without knowing for sure that was the only plan of action left. Don’t get me wrong I’m a huge fan of doctors who plan ahead and prepare me for what could happen in the future but never to this extent.

Just makes me wonder if he has ever had to worry about what not to say.

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Hope

18 Jan

When I began to write this  post I initially had this huge explanation of what hope was to me.  After reading it over the next day I realised that I really didn’t need to go into great detail. After all everyone at some point has hope for something, whether it be well wishes for another, to be healthy, to love and be loved,  I could go on and on.

The inspiration for this post came from a quote I came across the day my daughter was diagnosed with Congenital Disorders of Glycosylation – CDG.  It was hope for her survival that helped me through my pregnancy, hope for her recovery that got me through her most recent hospital visit, and it is that same hope that helps me to envision her walking, and talking and eating, and growing into a beautiful healthy woman. The very things that most parents automatically take for granted.   My hopes are even appearing in my dreams where I see my ladybug crawling and walking along side me holding my hand with a huge smile on her face.

I carry a little card with this quote on it, and if at any time I’m beginning to feel doubt about anything I pull it out, close my eyes and recite the words in my mind. It reminds me how much we have already overcome, and inspires me to keep dreaming and always have hope.

“Hope sees the invisible, feels the intangible, and achieves the impossible.” Anonymous

My beautiful ladybug gives me hope – I’d love to hear what gives you hope or what you might hope for.

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