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Sweet Little Angels

13 Mar

Have you ever had the feeling when your heart sinks, your skin goes clammy, every sound around you disappears and those one or two brief seconds slow down to feel like eternity?

For me this is exactly what happens when I learn that a child with CDG has become a sweet little angel.

This past February alone 3 wee ones from our CDG family passed away.

As much as I try to always be positive and think on the bright side I can’t help but think….. I don’t even want to bring myself to write it.

Once the shock and feeling of the news being too close to home begins to subside – a feeling of guilt closely follows.  How could I possibly write about how my ladybug now has 7 teeth or that she can roll from her tummy to her back, or she has tracked a toy for the first time in her life, knowing that another mother whose child had the same disorder will never get to experience this again.

I couldn’t and don’t ever want to imagine what it’s like to have to lose my baby. Because CDG is so uncertain that teeny little thought always seems to be in the back of my mind.  I try to hide it in the furthest corner under all my happy memories but when a little one with CDG passes, that teeny little thought manages to push its way through.

The only thing that sends it back is holding my baby girl, listening to her contagious giggle and knowing that all those who have passed are no longer suffering and are now playing hand in hand, while looking over my ladybug and every other child with CDG.

I thank the heavens every day that I have my daughter, and encourage every parent to hold their own little miracles a little closer and enjoy every precious second as I do.

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Rare Disease Day

1 Mar

Up until this past year February 28th meant nothing more than the end of the month.

In early October 2010 when my daughter was diagnosed with Congenital Disorders of Glycosylation (CDG) that changed. February 28th marks Rare Disease Day. A day to bring awareness to all rare diseases around the world.

Many brought awareness to Rare Disease Day by keeping their headlights on all day while driving to “Shine The Light on a Rare Disease”, The Global Genes Project initiated a wear your jeans to work day to support Rare Disease Day, several U.S. States issued proclamations for Rare Disease Day, and many families shared videos of their children and loved ones to show the importance of raising awareness for rare diseases.

I was recently sent an article about an amazing man – his name is Simon Ibell. Simon has a rare metabolic disorder known as Hunter Syndrome.  Simon had recently biked 500km in 10 days and raised an incredible $250,000.00 for Hunter Syndrome. Not only is he a true inspiration he is also Canadian.

Simon Ibell has started a foundation known as the Ibellieve Foundation – he spent Rare Disease day in Ottawa to help change the fact that “Canada is the only developed country with no health-care policy to support rare diseases.”

As the mother of a little girl with a rare disorder the following excerpt from an article at Healthzone.ca titled Health-care crusader battles to ‘fix the broken system’, really resonated with me. It explains how behind Canada is in recognizing and treating rare diseases.

“Despite affecting one out of every 12 Canadians, rare diseases get little attention and funding.

Durhane Wong-Rieger, president of the Canadian Organization for Rare Disorders, says Canada is 25 years behind Europe and 16 years behind the U.S. in how it handles rare diseases.

“We don’t even have an official definition of rare disease,” she says. The United States National Institutes of Health define a rare disease as a condition that affects fewer than 200,000 individuals in the U.S.

A standard definition for Canada would help identify the number of rare diseases in the population and guide decisions on drug access. Right now, without a national strategy, there is little support for Canadian drug companies to develop treatments and little financial incentive for U.S. companies to bring their drugs to Canada, Wong-Rieger says.”

I encourage everyone to take the time to read this article, it really was eye-opening for me on so many levels.

So here’s hoping that come next February when you’re thinking about whether or not March will be in like a lion and out like a lamb, or that it’s nearly tax time – you will take a moment to remember that the very last day of the month (February 28th) is Rare Disease Day.

 

[Megan Ogilvie, http://www.healthzone.ca, Health-care crusader battles to’fix the broken system’, http://www.healthzone.ca/health/article/945897–health-care-crusader-battles-to-fix-the-broken-system, (February 27, 2011)]

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Health Care Hindrances

24 Feb

8+ hour waits in the ER’s, over a year wait to see specialists, even longer for MRI’s –  there is no doubt that the Ontario Ministry of Health has its flaws and like any government-run system, needs improvement.

Up until recently I’ve never really had any issues with the MOH(Ministry of Health) and how it runs our health care system aside from those mentioned. I guess I always thought that because I pay through the nose in taxes, that in turn go towards our health care system, that the majority of tests should be covered. After all I’ve been paying taxes for 15 years and shutter to think of what that amount is up to now.

Our genetic counsellor has been trying for nearly 6 months to have a particular test done for my daughter, and has been turned down again and again by the Ontario MOH. The most recent comment that was given was What difference will it make. (not an exact quote – but pretty darn close)

So I find myself now where as a Canadian citizen I never thought I’d be – writing letters to our local MP and government officials pleading our case and begging them to help.

This test may not heal my baby girl, sadly nothing can, but it may give us a peek through the window of her future. CDG is so uncertain it can be fatal to one child and then spare the next.

The mere fact that I have to beg to have this test done sickens me. Sure I could have the test done tomorrow – that is if I fork out over $10,000 to have it done. I shouldn’t have to though.

It’s not just me fighting this battle either – families everywhere are. Parents of children who have autism are fighting to keep or even get funding for therapy that could positively change their child’s life, elsewhere there are parents fighting to keep their rights and make medical decisions that they feel would be in their childs best interest.

I know I’m not alone, and at this moment all I can do is have hope and keep faith that one day hopefully in the near future I will make that woman at the Ministry of Health eat her words!

CDG Family

13 Feb

This morning started off like every other Sunday morning. Roll out of bed, prime ladybugs feeding pump, prepare and administer her meds, change her diaper, get her dressed. Typically from there, Sundays consist of playing, tummy time, singing songs, and just chillaxin’.

Today was a little different though – I had 30 emails from the CDG Family Network forum in my inbox all sent within 3 hours of each other. Once again my heart sank, this many emails usually means one thing. A beautiful 2-year-old boy passed away and is now a sweet little angel. It’s heartbreaking. Not only did this little boy leave the world far too early, he left it because of CDG.

The thing I found comforting was that within minutes of this mother letting us know, the entire CDG family pulled together and came to her virtual side. Families from all over the world struggling with the reality of this disorder, put everything in their own lives aside to support one another.

It’s incredible, and so rewarding to be a part of such a wonderful network/community.  Although I prefer to call them family, because to me that is what they have become. There is this instant bond that comes along with getting the CDG diagnosis. Heck even before my ladybug was diagnosed I reached out to the CDG Family Network for advice and they were there for me.  We are just like any other family – there for each other through the good and bad times. I’ve received many words of encouragement from our CDG family when things get tough, and they are usually the first to shout hooray when we finally reach those special milestones that at times seemed  far out of grasp.

That’s why it is so hard when I hear that yet another child has passed away in our CDG family. Just for one moment imagine what it would be like to lose a family member a month for the past 4 months. Even though I’ve never actually met these children in person every single one no matter where in the world hold a very special place in my heart.

When I first found the CDG Family Network site one of the things that caught my attention was that they held a conference for the families to gather and speak with doctors and scientists from around the world. I have been looking forward to attending this conference for months even planning our summer holidays around it. But, like everything else, putting together such a conference requires money. In fact, the conference will not be happening this year unless the CDG Family Network can raise the funds for the venue, and speakers to attend.

I think this is the perfect time to start giving back to a family that has been there for us from the beginning.

I’m open to any and all suggestions for fundraising ideas to help bring the CDG Family Network Conference back to life.

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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Family

23 Jan

In a few short weeks Family Day will be observed in the Canadian provinces of Alberta, Ontario and Saskatchewan. This holiday celebrates the importance of families and family life to people and their communities.

Even though I’m really looking forward to having this day off work next month to spend with my family, it will be a little bitter-sweet.

Yesterday morning one of my dearest friends lost the father of her three beautiful children in a tragic accident.  My heart goes out to that entire family; especially the two little girls and the little boy.

Any loss of a friend or loved one tends to put everything in my life into perspective.  Even more so since I’ve had my daughter.

So many of us go through life in such a zombie like routine that it flies by before we have a chance to realize it. How many can honestly say that we spend as much quality time with our family or close friends as we probably should?

I recently asked a family member if they would like to bring their children over and go tobogganing on the giant hill  behind our house, I was told that between sports and other commitments we would have to call weeks in advance to even see them as they are so busy.

When did we become a society where drive thru on the way to a class or practice becomes a family dinner, or that I need to book weeks ahead so my ladybug can see some of her extended family?

If you ever get the chance and have some free time (I know easier said than done especially when you have kids) there is an older movie from Walt Disney called “The Straight Story”. The Readers Digest version: it’s based on a true story of an elderly man who makes the emotional journey across country to make amends with his estranged brother who has just had a stroke.  It’s not action packed, animated or 3D just a good old fashion heartwarming film.

I do suggest having a box of tissue and a phone close by. Chances are you will cry and I hope it will encourage you to get in touch with a family member or close friend you haven’t spoken to in a while.  Maybe it’s because you’re too busy or perhaps you’ve had a falling out. Harsh words were spoken or nowadays emailed or texts sent. Words are just words and as hurtful as they can be it’s the actions that will always speak louder.  Life is too short and precious to hold grudges, anger, and to always be busy.

No matter what you’ve done for yourself or for humanity, if you can’t look back on having given love and attention to your own family, what have you really accomplished?
— Elbert Hubbard

I’ll be the first to admit that even I’m guilty of becoming to busy or growing apart, if you will, from extended family members/friends. This day and age it’s nearly impossible not to.

The thing I need to remember and I hope encourages you to think about are all those sports/activities, appointments, and meetings in the grand scheme of things, are just trivial. It’s family and close friends that are what’s really important in life.

 

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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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There’s Always a Rainbow After the Storm

8 Jan

It’s quite interesting how things can change over the course of a day. After a visit to our family doctor and a few phone calls to a pediatrician at Sick Kids, we managed to get our little ladybug referred to the metabolic team at Sick Kids Hospital in Toronto. The appointment will most likely be within the next couple weeks.

We’re so lucky to have a family doctor who is as committed to getting things done as we are, I had only been speaking to her for a couple of minutes before she had her receptionist call for the referral. It definitely pays to be a pushy mom.  Actually, I’m not really fond of the word pushy, it’s more like dedicated to get our ladybug the care she deserves and determined to see that it happens.

Looking back at how frustrating Thursday was, I’m so happy that things have worked out the way they have.

We now have the opportunity to meet a pediatrician who has actually cared for two other children with CDG, we’re able to see a metabolic specialist at Sick Kids in Toronto within the next month, and…….. I just recently found out that Little Ladybug Hugs was mentioned in the winter issue of Exceptional Family – Canada’s Resource Magazine for Parents with Exceptional Children. I’ll have to post a copy next week.  I can’t describe how exciting this is. 

 

 

Most definitely one of the many rainbows we’ll come across after storms we have encountered.

 

 

FB: Little Ladybug Hugs

wwww.cdgfamilynetwork.org

 

A Contagious Smile

7 Jan

Things have been going very well. (k.o.w.)  Ladybug has fully recovered from the Croup, her head control is amazing and…..drumroll please…..she is now batting at toys on her play gym.  Mostly the chime butterfly.  I was in the kitchen and kept hearing the chime go off – my initial thought was that our dog was giving kisses or walked by and got it with her tail.  I couldn’t have been more wrong. There our ladybug was, keeping her eye on the butterfly chime, winding up the right arm, then BAM nails the butterfly square on and starts giggling.  I freaked out – in a good way of course and grabbed the video camera to record yet another milestone reached.  Horray!

As I’ve written previously, my little ladybug is being seen by nearly every team at the children’s hospital.  With the exception of a few – one of which is the metabolic team. That’s certainly not for lack of trying on our part. When my princess was in the hospital this last visit, there was talk about referring her to the metabolic dept. Understandably with everything else going on at the time it wasn’t really a necessity and got put on the back burner.

In the past few months I’ve asked our  current pediatrician, and GI doc to refer us. CDG is in part a metabolic disorder, I would really like to talk with the team and see if collaboratively we can come up with some ideas that could help her. All I want is the best possible health care I can get for my daughter.

I’m guessing the referrals either got misplaced or forgot about all together, but if there is anything I’ve learned this past year it’s to be persistent. So I called genetics – finally someone listened and called for the referral. Just goes to show that the squeaky wheel gets the grease.

Fast forward to yesterday – fairly typical start to the day, around noon things began to go amiss. I know that if you think positive you will attract positive but do you ever have those days where you receive just one bit of bad news and then everything negative seems to snowball? That was yesterday – and the pièce de résistance was getting a call from the genetics counsellor at around 4pm telling me that we wouldn’t be able to see anyone from the metabolic team at McMaster.

At first I thought she was joking, after all how could this be it’s pretty simple – my daughter has CDG, one of the most important teams you would think she would need is the metabolic team. Sadly it wasn’t a joke. The metabolic team at MCH will not see my ladybug because they are no longer accepting referrals.

That snowball I was mentioning earlier – well it has been collecting things all day, and has now just rolled down a hill, through a field filled with dirt and icky gross things and knocked me flat on my ass.

I couldn’t even finish my conversation with genetics. How is it that a baby who has a very rare metabolic disorder (the 1st case ever at this hospital) can’t see the specialists she needs because they have filled their quota of patients.

I actually began writing this yesterday – it’s probably a good thing I decided to sleep on it and begin today. With the shape I was in, this post would have primarily been fueled by anger, frustration, and immense sadness.

Little did I know everything was about to change.

I was preparing my ladybug for her bedtime story routine, I put out her pj’s, and was in the midst of changing her diaper when she proceeded to pee everywhere. You would think after my day it would have been my breaking point. But, when I looked down at her she was giggling then looked me straight in the eye and gave me the biggest smile. I couldn’t help but laugh. She has such a contagious smile. Nothing else mattered after that, so what if there was urine EVERYWHERE that’s what washing machines are for. As for everything else that happened that day, some wasn’t even worth shedding a tear about, and getting into see a metabolic specialist could be dealt with another day.  It’s this smile that matters more than anything else in the world to me.

That evening I was fortunate enough to be able to talk to other parents in the CDG family, and most importantly my true friends.  The ones who can sense when I’m having a bad day and would do everything in their power to help lift me up. Thank you. xoxo

 

“You never really lose friends; you just discover who your true friends are.” Unknown

Facebook Page: Little Ladybug Hugs

http://www.cdgfamilynetwork.org

 

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