Archive | July, 2011

Going Global

31 Jul

3 months ago I was contacted by ladybug’s geneticist asking if I would mind if her team could present ladybugs case at this years International Congress of Human Genetics and the American Society of Human Genetics meeting. Dr. Li (geneticist) mentioned that these are usually held separately but this year they are combined, “so it will be probably the largest meeting in human genetics ever”.

This would be a chance for geneticists from all over the world to learn about and discuss CDG.  I didn’t even hesitate to say yes – after all this is exactly the type of attention I want to bring to CDG.  The more doctors who know about it, the more diagnosis can be made, the more awareness can be raised, which leads to more funding to find the mutations in the genes and perhaps one day a cure.

The best part was that it wasn’t just ladybugs case that would be presented, Dr. Li and her team wanted to combine it with an adorable little boy from England.

I first came across a picture of this young lad when I was researching CDG before we received a confirmed diagnosis. I was blown away by the similarities between him and my princess.  Both have short long bones, feeding difficulties, and even the same cute little button noses. As this past year has gone by I’ve grown quite close to this fabulous family, exchanging gifts and often chatting online about our CDG type IIx wee ones throughout the week.  To this day we are still amazed when we look at pictures, and have a very strong feeling that these two beautiful children may have the same undiscovered subtype.

We’ve recently found out that the abstract, (in short – a brief summary of the two medical histories) has been approved.

Which means that this October geneticists from across the world will gather in Montréal, Canada, and will learn about two very special children and their even more special disorder.

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Swing Fore Dreams

21 Jul

Although my golf experience doesn’t exceed a couple of company tournaments and mini-putt, I was truly honoured to have been asked to be a part of the 3rd Annual Swing Fore Dreams Charity Golf Tournament which was held on July 17, 2011. The proceeds from this tournament will directly benefit McMaster Children’s Hospital.

The tournament was held at the Carlisle Golf and Country Club. We opted to pass on the golfing as it was far too hot for ladybug – who might I add rocked her pretty pink party dress and shades, and instead joined for the dinner and awards afterwards. Small side note the dinner was fabulous!

As soon as I walked into the dining area with ladybug in tow we were immediately welcomed by the 3 amazing guys who put the entire golf tournament together for the 3rd year – Ryan DeCaire, Patrick Brennan and Christopher Ferguson. I don’t think I have ever come across a more caring, generous and empathetic group of young men in my entire life. This feeling was certainly shared with so many that attended the tournament including the local MPP Ted McMeekin who spoke many words of praise.

Ladybug was able to make it through the dinner portion with a little help from Dr. Kozenko her metabolic geneticist. Who graciously volunteered to swing ladybug in her car seat as she began to fuss so we could finish our dinner. Dr. Kozenko had agreed to join us and put on a small presentation about ladybug and The McMaster Children’s Hospital.

As I mentioned before ladybug’s bedtime routine has been going quite well – even if she doesn’t fall asleep right away she is beyond happy to be in her crib by 7pm.  Alas our evenings out beyond 7pm with the wee one will now be a distant memory, but so worth it to finally have an hour or two in the evening to exhale.

All in all it was a fabulous night and I am so thankful for all the participants who truly wanted to be there and help raise money for McMaster Children’s Hospital. Not to mention the amazing outreach from local business’ for sponsoring holes and their generous donations which included and iPad. Sadly, we did not win this – it would have been for ladybug to use strictly as a communication and educational device of course. Congratulations goes out to our MPP Ted McMeekin who did however win it.

Most importantly I want to thank Ryan, Patrick, and Christopher, I can’t possibly express the impact this entire event has had on me. Because of the three of you our daughter and so many other children will be able to receive top-notch medical care in an up to date facility. You are all incredible and it has been an honour to be a part of the 3rd Swing Fore Dreams Charity Golf Tournament.  I can’t wait for the 4th!

Thank-You.

(More pictures coming soon!)

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Perfect To Me

7 Jul

During my 4th month of pregnancy, the uncertainty of what was going on with my ladybug was at its highest. I didn’t know if she would survive to term, and if she did – I didn’t know what, if anything would be wrong. The only thing we knew at this point for sure was that she was a girl, had a high Nuchal Translucency measurement, and short femurs. Everything aside from that was in the hands of the powers that be.

On one day in particular I remember returning to work from a weekly ultrasound appointment feeling a little down because the findings hadn’t improved. I was still at this point very quiet about what I shared with others, but felt compelled to let a co-worker know what was going on.

Every day I wake up and repeat the words that she told me. (One of my many mantras). “No matter what comes to be with this baby girl when she is born – she will always be perfect to you.”  Catherine, you couldn’t have been more right, I don’t see ladybug as being a 19 month old who looks like a 5 month old. I see her as my sweet little baby girl. Age is just a number and I know that she will reach the milestones she is meant to reach at her own pace. I don’t see ladybug as being developmentally or physically delayed – she is exactly where she should be.  I try not to stress about having to feed her through a tube in her tummy – maybe she will eat orally again maybe she wont. There is only one person who knows the answer and right now she is quite content with taking the odd ‘Mum Mum’ (rice rusks cookie) and otherwise being tube fed. To me my ladybug is perfect CDG and all. Albeit I may have the odd breakdown about her health issues now and then after all I am human but I wouldn’t want to change a single thing.  Sometimes you just need to a new perspective on things to remind you what is really important.

This poem was recently posted by a CDG family member and I don’t think I could sum up how I feel about having a daughter with special needs better.

My Perfect Child

As my children were born, I wanted them
to be perfect. When they were babies, I
wanted them to smile and be content
playing with their toys. I wanted them to
be happy and to laugh continually
in-stead of crying and being demanding. I
wanted them to see the beautiful side
of life.
As they grew older, I wanted them to
be giving instead of selfish. I wanted
them to skip the terrible twos. I wanted
them to stay innocent forever.
As they became teen-agers, I wanted
them to be obedient and not rebellious,
mannerly and not mouthy. I wanted them
to be full of love, gentle and
kind-hearted.
“Oh, God, give me a child like this” was
often my prayer. One day he did. Some
call him handicapped… I call him Perfect!!

Source/Author Unknown

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