Tag Archives: CDG SLC35A2

Just be Kind

13 Aug

Friday March 13, 2020 was the last semi “normal” day I can remember. The kids were still in school, and I was preparing for the 2 weeks off due to the Coronavirus.

As everyone is well aware, 2 weeks turned into 5 months. The longest March break EVER!!!

It was hard on all of us, the kids especially.  Ladybug really missed her school routine and her friends, the boys were loving it at first until we entered full lockdown and they couldn’t see their cousins. It was and is physically and emotionally draining.

On a positive note – having a child who is medically complex put us at a slight advantage over the average person in Canada.

  1. We always have a stockpile of hand sanitizer, disinfectant wipes, and diapers.
  2. Coughing or sneezing into the “crook” of the arm was taught before the boys could speak their first words.
  3. Our hand washing protocol is very strict here.
  4. The complex care team at the children’s hospital is on speed dial and scheduled a “what to do if” virtual appointment right away to make sure we had all the meds we would need.
  5. We are used to socially distancing during cold and flu season.

Now that it’s nearly September, we are facing a new set of challenges – preparing for back to school during a pandemic. I never in my wildest dreams imagined that face masks would be a part of our back to school supplies, n’or did I ever imagine having to decide if or when to send my kiddos back.

Every parent has the right to make this choice based on what is best for their family. As of now, we have chosen to send the boys back to school on September 8th, and I’m still waiting to hear what the plan is for Ladybugs school. I’m contemplating driving them back and forth, which means that my plans for when the kids return to school, will have to be put on hold again. It kinda sucks! It’s frustrating! However,  it’s our life now, and as crappy as it may seem at times, it could always be worse. Like I’ve written about before, it’s all about perspective.

Please remember to always be kind to one another, and try not to attack parents for their choice on sending or not sending their kiddos to school.   Whichever path they decide is the RIGHT one.

Just be kind.

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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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Secure Your Own Oxygen Mask First

20 Jun

Anyone who has ever flown anywhere, knows that before the flight even takes off, the attendants go over the safety check lists and always tell you to secure your own oxygen mask first.

Until recently I never really thought of it as a metaphor for life. There is a reason they tell you this – you can’t help anyone if you are unconscious. It really makes sense, but over the years as a mother, I have used that oxygen mask to hang feed bags from, laundry off of, pretty much everything except for its actual use. I forgot how to take care of myself first.

These past several months my body has been sending signs to slow down, take a deep breath and listen, but I didn’t. I felt the first lump in my breast years ago – shortly after Ladybug was born. I was told it was just a benign breast tumour and it would eventually go away – it was probably just hormonal. When you’re a mama, let alone a mama of a medically complex child who spends her days advocating, making phone calls, booking appointments and driving to all these appointments – it’s easy to forget about or brush off those little lumps and pains that you feel.

Fast forward a few years, and there have been new signs that something isn’t right. I went in for my first mammogram in the fall of 2018. Two more abnormalities were found in my left breast. I had to return twice for further testing. Let me tell you…when you are on your way to Toronto for a concert (that you’re super excited for), and you get a phone call saying they want you back in the next day for more tests – your heart sinks and you automatically think all kinds of scary, sad, thoughts. It sucked!

On the bright side, we had an awesome dinner at a Turkish restaurant, the concert was fantastic, and I got engaged!! So it ended very, very well.

After a meeting with the surgeon last month, it appears from the extra scans, that most of the abnormalities look to be benign (not cancerous), 1 of them needs to be very closely monitored though – so they’re all coming out just to be safe.

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Never again will I ignore those whispers. It took my body screaming at me to finally hear it. Tomorrow, I will be spending my 40th birthday having these lumps removed by a fantastic surgeon.  (the date was purely coincidental)

There is no need to worry or ask how I’m doing right now – I AM ok and WILL BE ok.   This is more of a PSA for all those special needs mamas (or caregivers), to take care of yourselves. Trust me – I know how hard it is, but it is so very important.

As a happy thought/side note, I’m really looking forward to turning 40, and think of this as an “out with the old” type of situation. My next 40 years are going to kick a**! I can celebrate the milestone later – perhaps with some sparkly jewelry or a much needed family vacation. Or both. 😉

Lesson of the day: You only get one body, listen to it, take care of it, and above all else trust your gut! It just might save your life.

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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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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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In Honour of Rare Disease Day – Help Me Get CDG Recognized as an Official Day.

29 Feb

Today, February 29th 2016 marks the 9th International Rare Disease Day.

5 years ago I published this blog post dedicated to Rare Disease Day.

When my daughter was first diagnosed with Congenital Disorders of Glycosylation, there wasn’t a lot of information or even support for families like myself.  At the the time of her diagnosis she was the only girl in the entire world known to have her subtype. Now, thanks to the wonders of science and social media, I have been in touch with a family in the USA who has a beautiful little girl with the same subtype as my little Ladybug. Through the dedication and hard work of my CDG family, there are now CDG conferences both in North America and Europe and several Facebook groups that have become an amazing means of support for so many.

I couldn’t think of a better day to announce that the CDG families are working towards making May 16th World Congenital Disorders of Glycosylation (CDG) Awareness Day! Please sign our petition to The World Health Organization (WHO) here. 

I also encourage you to share this blog post with all of your friends and family.  You can easily share via Twitter, Facebook or email with the buttons at the bottom of this page. The more signatures we get the faster we can make this dream a reality.

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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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