Tag Archives: Congenital Disorders of Glycosylation

October is Dwarfism Awareness Month

6 Oct

October is known internationally as Dwarfism Awareness month.

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If I’m going to be completely honest, this was never even on my radar until this past September. I really didn’t know that much about little people aside from a couple of relatives, as well the Roloff and Arnold/Klein families who are featured on TLC’s Little People, Big World, and The Little Couple.

For the past few years I’ve been fighting non-stop to get answers as to why Ladybug wasn’t growing. She is nearly 10 years old and the size of a 2-3 year old. I was always told that a shorter stature can be a part of CDG – but this was beyond a shorter stature. In the summer we were told that she “qualified” to start HGH  (human growth hormones) to help her grow.  The doctor was all ready to get started but this didn’t sit right with me. Setting aside the football size field of horrible side effects, they still hadn’t given a reason as to WHY she wasn’t growing. Think about that for a moment – it’s like a person who keeps breaking a bone and the doctors don’t find out why they just keep putting a cast on it. (On a side note we’ve also discovered in this quest, that Ladybug has Osteoporosis) I wanted to know why she wasn’t growing before I’d even consider putting her on HGH.

After having a couple of scans, we waited patiently for an appointment with the lovely metabolic geneticist that diagnosed Ladybugs subtype initially, to try and get some answers. It was at this appointment that she confirmed, Ladybug is a little person. She has a rare form of Skeletal Dysplasia otherwise known as Dwarfism – her body is fully proportionate it just isn’t able to grow like an average person. Similar to her type of CDG, CDG SLC35A2, this form of dwarfism is not genetic. Meaning Daddy-o and I don’t carry the gene.

I’m typically pretty strong in appointments – when we received Ladybugs initial CDG diagnosis I was prepared for it, when the onset of tonic clonic seizures started, as heartbreaking as they are, I was prepared for them because I knew how horrible LGS was. However, this diagnosis hit me hard. For years I was fighting for answers. Answers as to why she isn’t growing – 1 cm in 2 years is not typical by any means. When I heard her say the words “little person” I broke down and cried. It wasn’t tears of sadness or grief, it was tears of relief. Relief that I now know why she isn’t growing, relief that I know HGH will not help her type of dwarfism, and relief that I no longer have to fight for answers.

So, this month – October, will be our first time celebrating International Dwarfism Awareness. We have already been welcomed into the LPO – Little People of Ontario community and I’m looking forward to meeting them at the Holiday Party next month.

Between going back to school and wedding planning things have been pretty hectic, however, I will be writing a post soon about Dwarfism. If you have any questions please feel free to reach out to me and I’ll do my best to answer them.

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Myths and Facts

10 Jul

I will preface this post by saying the tumor that was removed from my breast is benign (not cancer)! YAY!!! The lymph nodes in the area are still quite enlarged (since the first scan last September) so I will return in 4 months for another scan, and if they haven’t gone down by then….well I’ll deal with that if or when the time comes.

In these past few months I have reached out to breast cancer survivors, as well as those recently diagnosed, just to chat and hear their experiences. One of the common topics that repeatedly came up, were the myths that surround breast cancer.  I would like to share some of these myths and facts, as it is very important for everyone to know.  I even had a former medical professional tell me, that if I had no relatives with breast cancer the chances I would have it were next to none.  That is myth #1, in fact 80% of women who have breast cancer do NOT have a family history. 

Know your body, and if something isn’t right don’t be afraid to seek medical help or go for a second opinion.

Here are my top 5 myths about breast cancer from the Canadian Cancer Society and Screening for Life.

  1. Only women with a family history of breast cancer will get it.

    The truth is, 80% of women who develop breast cancer have no family history. So it’s important to understand that you are still at risk for breast cancer even if no one in your family has ever had the disease.

  2. Do antiperspirants cause breast cancer?

    The claim

    Antiperspirants may cause breast cancer because they:
    • stop your body from sweating and keep toxins inside your body
    • are applied near lymph nodes
    • contain aluminum

    The truth

    There is no evidence that the use of antiperspirants increases your risk for breast cancer.

    It’s true that antiperspirants stop perspiration (sweating), but the main purpose of perspiration is to cool your body – not to get rid of toxins. Lymph nodes in the armpits clear some toxins from your body, but your liver and kidneys play a bigger role. Far more toxins are removed by your kidneys and liver than through sweating.

    Most breast cancers develop in the upper, outer quadrant of the breast near the armpit. But that’s because this area has a lot of breast tissue, not because lymph nodes are there.

    Some antiperspirants and deodorants contain aluminum. Your doctor may tell you not to wear deodorant containing aluminum when you go for a screening mammogram. The aluminum could show up on the mammogram images and lead to an inaccurate result by making breast cancers and other abnormalities harder to find. But there is no link between aluminum and breast cancer risk.

  3. Does stress cause cancer?

    When you live with a lot of stress, you’re at a greater risk for developing cancer.

    The truth

    Research has not proven a definite cause-and-effect relationship between stress and cancer. The connection between your emotional (psychological) health and physical health is very complex. Psychological stress can affect your body. Some studies suggest a link between various psychological factors and an increased risk of developing cancer.

    3 cancer risk factors linked to stress
    • Stress can weaken your immune system. Your immune system defends your body against infections and diseases, such as cancer. A weakened immune system plays a role in the development of some types of cancer.
    • Stress can alter the levels of certain hormones in your body. This may also put you at greater risk of developing cancer.
    • Stress may lead to unhealthy behaviours. Overeating, smoking and heavy drinking are all lifestyle factors that increase cancer risk.

  4. What’s the link between sugar and cancer?

    The claim

    Sugar feeds cancer – and it makes cancer grow faster.

    The truth

    Your body’s cells consume sugar as they grow and divide, but eating sugar does not make cancer cells grow faster.

    All cells require sugar (glucose) for energy. Your body can also store sugar to use as energy later. Your body needs this sugar to function normally. Canadians consume thousands of dietary components every day, so it’s hard to pinpoint precise links between diet and cancer.

    When sugar can increase your risk of cancer

    Eating lots of foods that contain sugar means you’re more likely to gain weight. Research shows that obesity increases your cancer risk. Obesity may cause changes in hormone levels which may also put you at a greater risk of developing cancer. A healthy body weight will be different for everyone, so talk to your doctor about yours.

  5. There is nothing a woman can do to reduce her risk of developing breast cancer.

    There are several things that can be done to reduce the risk of breast cancer:

    • Physical Activity – Be physically active throughout your life and exercise every day.
    • Weight – Try to reach or stay at a healthy body weight. This becomes even more important after menopause.
    • Alcohol – Limit the amount of alcohol you drink to no more than one drink per day.
    • Smoking – Don’t smoke and avoid second-hand smoke. If you’re currently a smoker, talk to your healthcare provider about options for quitting or cutting back.
    • Long-term Hormone Replacement Therapies (HRT) – Limit using the combination of estrogen and progestin menopausal hormone replacement therapy to no more than 5 years; long-term use (beyond 5 years) increases a woman’s risk of breast cancer. But within 2 years of stopping, a woman’s risk of breast cancer returns to average.

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Happy 9th Birthday Ladybug!!

3 Dec

December 3 – not only is it International Day of Persons with Disabilities, it also happens to be my Ladybugs 9th birthday.

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Two incredible reasons to celebrate this magical day.

I think about this day 9 years ago and am so proud of how far we have come. Ladybug is a fierce, strong, beautiful, little rainbow miracle. On December 3, 2009 I was given the gift of becoming a mother – a dream come true.

I am eternally grateful for everything over these past 9 years, and am truly blessed to be this sweet little girls mama.

Happy Birthday Bug!  xoxo

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Giving Tuesday

27 Nov

Giving Tuesday is a movement that was created in 2012, and has become an international day of giving. It follows Black Friday and Cyber Monday – two very busy shopping days in North America.

I want to share with you a few of the organizations that are near and dear to our hearts.

During the summer of 2017, when Ladybug was in the hospital for back to back surgeries, and a lengthy stay, I had an aha moment. Sounds cliche I know.  I’ve written many times about the special needs community and how they are amazing for rallying around each other at times of need.  This was very evident that summer. Families that Ladybug took dance with a couple years prior, came to visit several times always bringing snacks, and a complete stranger drove from over an hour away to drop off a weighted blanket to help Ladybug sleep. I could go on and on with the amount of people, not just in the SN community, who were there for Ladybug and myself when we needed it the most.

I felt very fortunate to be a part of a group like this, and knew I wanted to pay it forward. During that summer I saw a Facebook post from a girl, Nikki, who I used to work with. She had moved to India several years prior to volunteer with Sarah’s Covenant Homes. SCH is a group of family like foster homes for children in India who have special needs. These children are in need of sponsors for things like food, clothing, schooling, medical equipment, surgeries etc. The things that many often take for granted.

I felt drawn to help out, even if it was only a little bit every month. That was still a little more that SCH didn’t have. It became a family event, as I would sit down with my own children and talk about SCH, India, and the first little girl we sponsored. My boys would often take the globe out, point to where India was, and were always excited when we’d get an update or photo of our new friend.

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It was an incredible teaching/learning opportunity for myself and my children. It also inspired us to help children from another organization. We became Birthday Box sponsors for a little girl in Gjoa Haven, Nunavut.  The cost of typical birthday party supplies in the far north is insanely high, that is if they are available. This was our second year putting together a box filled with cake mix, icing, candles, party decorations, some treats, and a few gifts. The kids are a part of the entire process, from picking out the items all the way to going to the post office to ship them.

My children are learning what it means to be kind, generous, and give every day – not just one Tuesday a year. This is the best gift I could ever give them.

Here are a couple other organizations that are also very close to our hearts:

McMaster Children’s Hospital – Ladybugs home away from home.

Sanford Burnham Prebys Medical Discovery Institute – The incredible lab that offered to find out Ladybugs CDG subtype for us, when Health Canada refused. They continue to be an integral part of our journey, and I’m hopeful they will find a treatment and perhaps one day a cure for CDG.

 

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We Are Not Alone

13 Nov

Nearly 3 years ago, I shared with all of you how my daughter was injured while in the care of a home health worker. Getting that call was one of my worst fears. It was very difficult leaving my medically fragile, non verbal child in the hands of a nurse, who for the most part was a complete stranger. For those naysayers who ask why I did – let me tell you, special needs parent burn out is real, and we need a break every once in a while too. However, since her accident I haven’t been able to have any new nurses in our home. Partly because there are no experienced paediatric nurses available, and partly because I’m deathly afraid of my little bug getting hurt again.

Since publishing that post, I have connected with many, many more families who have had negative experiences with nursing care as well. Stories that have involved nurses being drunk at work, or having locked themselves out of the house when they left to smoke a cigarette with the child being alone inside, or ones who have taken drugs while caring for a child. This has to stop. We live in Ontario Canada! One would think our excellent health care and governing bodies would stand by their guidelines to help families like ours. One of the issues is that there are far too many hands in the cookie jar. There is a shortage of great paediatric home care nurses, and an overage of upper management.

I went through the proper channels that were available to my daughter as a patient, and filed a report with the CNO (College of Nurses of Ontario).  After filing a report you wait for an investigator to be assigned to your case. Then you wait some more, and then some more. Over a year later, we were finally assigned an investigator who apologized for the delay, as they were very busy with many other investigations.

There are 2 massive issues right there. Firstly, in the time it takes to have someone assigned to investigate a claim submitted to the CNO, a health care worker could easily injure others or, in the case of Elizabeth Wettlaufer (a nurse in Ontario who is a convicted serial killer), cause death. According to the Toronto Star, the CNO allowed Wettlaufer to continue working after it was notified of the many issues surrounding her performance as a nurse.

Secondly, it took a year for an investigation to even begin because they were so busy with other claims. Nurses and health care workers are supposed to be put in place to care for our children, yet more and more reports and claims are being filed. Why?

A month ago, we finally received the “verdict” from a panel of professionals at the CNO. My heart sank as I read their statement shown below – the woman who allowed this to happen to my daughter was to receive advice. Yes, that’s right, advice on how to be a better nurse.

If the CNO is overwhelmed with files being claimed against nurses, and families are being forgotten about or brushed off, who is supposed to help protect our most vulnerable?

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World CDG Day

16 May

I can’t believe how fast one year has gone by.  I remember writing about the very first CDG Day last year, a few things have changed some good – some not so good. The one constant is that my little Ladybug is one fierce little girl.

Since Ladybugs two emergency surgeries and summer hospital stay, she has struggled to stay healthy. Each cold and flu that she caught seemed to take longer for her to recover from.  She has missed the majority of the school term. The smiles and happy jibber jabbers have been few and far between, but are slowly returning. Though she be but little, she is fierce. I keep reminding myself of this when I get a little sad about how fragile she is.  She will get better, and I’m hopeful her loud chatter will return soon. Until then, Ladybugs little brothers more than make up for it.

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This photo was taken on Mother’s Day (May 2018). 

CDG has been a massive rollercoaster in our lives, Ladybugs fragile little body is fighting and we will fight for her. It is a disorder to which there is no cure, and that is heartbreaking. I have to say though – it isn’t all bad. If it wasn’t for Congenital Disorders of Glycosylation, I would never have become a part of the most amazing tribe. I’ve grown so incredibly close to families that I’ve never met in person, we chat online, on the phone or FaceTime. Usually to ask questions about treatment options, questions about different ailments, etc., but it’s also just to talk to another mama who gets how rare and frustrating CDG can be. There is one mama in particular – she gets it! When we FaceTime I feel like I’m talking to a close relative or friend that I’ve known my entire life. It helps that our daughters have the same subtype too.

Last summer we were planning on heading to the USA for a family road trip with our Airstream “Juniper”, to see Mt. Rushmore and Yellowstone National Park. (Due to Ladybugs hospitalization we weren’t able to go) We were also going to meet Ladybugs CDG SLC35A2 sister. This sweet little American love bug is the 2nd girl in the world (Ladybug being the 1st) to be diagnosed with the same CDG subtype that my princess has. I’m so unbelievably excited that we will now be making that trek this summer. On the bright side of last summer, I had a lot of spare time while in the hospital, so all of the packing lists and must see tourist attractions like the Worlds Largest Ball of Twine list are already complete. Like last year I will be documenting our travels on a separate blog which I’ll post when I have it all up and running.

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It’s PURPLE DAY!!!!

26 Mar

Purple Day 2013

Today, March 26th marks the international day for Epilepsy Awareness. My very first post about today was back in 2013. I always find it interesting to look back on my previous posts and see how far we have or haven’t come and what has changed.

The biggest change is that we’ve discovered Ladybug is seizure medication resistant. We have tried all medications that are safe for her to take and none have had any positive effects on her seizure activity, especially since she’s been diagnosed with Lennox Gastaut Syndrome. The other thing that made me chuckle, but in a bit of sad way, was how I was so excited that Ladybug was a whopping 20 pounds. 5 years later she is now only 23 pounds (10.5 kg). Although, she is taller so that is a big win – she has grown from 71cm to 84.5 cm (28″ to 33″). That is 1″ a year.

In 2015 we talked about starting her on a Ketogenic blenderized diet. This never came to fruition. Given Ladybugs reflux and tummy issues, in order for us to get her on a keto diet she would need a GJ feeding tube. This bypasses her tummy and goes strait into her intestines. It would also mean continuous feeds and would impact her school time, and could still potentially cause an increase in reflux. The cons far outweighed the pros at the time so we opted to put that idea on hold.

After quite a bit of research we were able to get Ladybugs neurologist on board with trying CBD oil. Although it was very helpful in her overall health and wellbeing, it had no impact on her eeg results and seizures.

So here we are March 26, 2018, a lot has changed in 5 years. I’m still very hopeful that there will be some kind of treatment we will come across that will help with Ladybugs seizures. Perhaps now more than ever as the type of seizures she is having is slowly increasing. Last week Ladybug had her first absence seizure. They should typically only last a few seconds but her lasted over 2 mins, then this morning what started as a typical auditory triggered myoclonic seizure turned into an almost clonic seizure where her arm started shaking. Thank heavens she returned to baseline quickly afterwards. I don’t know what we will try next treatment wise – maybe a different strength of CBD oil, or perhaps there is a new pharmaceutical that might show positive changes in kids with LGS. I do know that I will NEVER stop trying to find treatments to help my little bug live the best life she possibly can.

Here is the link to the 2013 post that gives more of a background on Purple Day.

 

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World CDG Day

16 May

Today, May 16th 2017, marks the 1st official World CDG Day.  Ladybug was diagnosed with Congenital Disorders of Glycosylation in October 2010. I remember every single detail of the moment the doctor told me. There wasn’t really much information out there when we received her diagnosis. I had come across a website before hand that had several pictures of other children who had CDG, and I found one little boy who resembled Ladybug down to the same pudgy little hands. Fast forward nearly 7 years and there are Facebook pages, charity organizations, and now an official World CDG Day. I can only imagine how far we will go in the next 7 years.

This is an incredibly important day for our CDG family. We need to build awareness in order to increase the interest of academia, and the development of research. There is currently no cure or treatment for CDG. We need to be able to inform more physicians and every other healthcare professional out there, knowledge is power. Most importantly building CDG awareness will empower families and patients alike.

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A couple of years ago the CDG family worked together to develop a logo that would represent all of us.

 

 

It was recently announced that to go along with our logo, the CDG awareness colour will be green.

So today Ladybug is wearing a green dress complete with green ribbons in her hair.

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On The Move

2 May

As I was getting ready to write this update, for some reason the theme song from Days of Our Lives played through my head. I can’t believe that it has been 5 months since my last post.  I guess time really does fly when you’re having fun.  The school year is winding down, and I’m now starting to plan our HUGE summer adventure. I won’t give too much away just yet,  but, we’ll be packing up the kiddos and taking our Airstream down to and across the USA – meeting some very special people along the way. I’ll be starting a new blog to share our journey with everyone too, so I’ll keep you posted.

Ladybug has been doing really well. She is excelling in school – and has grown very close to her adorable little classmate (who is quite the princess too). She is also making choices for which activities she wants to do during her day, and loves going for walks in her gait trainer. She has even started walking towards her classmate to be near her. *heart melted*
Here is a picture of Ladybug at school doing her physiotherapy in her gait trainer outside.

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There is alos another new fancy piece of equipment called a Dynamic Stander. I would have never thought that Ladybug would have liked this as she LOVES to move her legs, but, it is to entice her to stretch out her arms and touch the wheel to move around. She seems to be enjoying it as well.

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Ladybug also got to be the “swing tester” for her school. They are getting a new fully accessible swing and she got to go to the company that makes it to try it out and give her seal of approval. According to her teacher, she got quite upset every time the swing stopped, which doesn’t surprise me as Ladybug is becoming very good at communicating her wants and needs now.

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Happy 7th Birthday Beautiful

3 Dec

7 years ago today we welcomed our itty bitty little Ladybug into the world. She was born at 03:56 and in true Ladybug fashion – made a very grand entrance after a very long labour. Knowing her now I wouldn’t expect anything less as she LOVES being the centre of attention, just as every princess should.

DSC_0027At the time we didn’t have a diagnosis, and were told that the chances of her surviving the first year were beyond low. None of that mattered. We had our sweet tenacious baby girl and our life, although atypical for many new parents, was perfect.

Today we celebrate Ladybugs 7th birthday. In the past 7 years she has taught me patience, strength, courage, and perseverance.  Everyday brings forth a new struggle, but everyday she takes those challenges and kicks a**!  She is doing amazing in school, and has even started to take steps in her gait trainer. Ladybug adores her little brothers, and often smiles and laughs when they play together.
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Happy 7th Birthday Beautiful! dsc_0591

 

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