Tag Archives: CDG

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.

116911638_951458118666195_5397284554379594708_n

Tags: , , , , , , , , , ,

October is Dwarfism Awareness Month

6 Oct

October is known internationally as Dwarfism Awareness month.

dwarfismawarenessmonth-1280x427

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.

IMG_2512

Tags: , , , , , , , , , , , , , ,

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?

IMG_9040IMG_2562

Tags: , , , , , ,

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.

IMG_0305

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.

Tags: , , , , , ,

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.

 

Tags: , , , ,

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.

IMG_2397

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.

IMG_2439

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.

. IMG_2436

 

 

 

 

 

 

 

Tags: , , , , ,

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.
img_1348

Happy 7th Birthday Beautiful! dsc_0591

 

Tags: , , ,

Tenacity and Resilience

16 Oct

Last week I came across an amazing video called The Brain that Changed. It shares the story of a man in Australia who has Cerebral Palsy. His family pushed the known boundaries and explored Neuroplasticity.

Neuroplasticity, also known as brain plasticity or neural plasticity, is an umbrella term that describes lasting change to the brain throughout an individual’s life course. The term gained prominence in the latter half of the 20th century, when new research showed that many aspects of the brain can be altered (or are “plastic”) even into adulthood.   Wikipedia

Andy’s nervous system was still “plastic” enough that he was able to change and do many things in adulthood that he’s never been able to do before.

It is incredible to watch his transformation, and the story reignites hope that Ladybug can too achieve the unimaginable.

Then just yesterday I was sent another video. It is the most recent ad campaign for SickKids Hospital in Toronto, Ontario. It is raw, powerful, fierce and inspiring. Yes, it might be hard to watch and is definitely not your typical soft music fluffy bunny children’s hospital campaign – but, it gets the point across loud and clear. It’s time to fight even harder and conquer.

I feel like the universe is trying to send me all these messages lately about Ladybug.  We have put a lot of her therapies on hold these past couple years as they are extremely expensive.   I’ve always known that deep inside there is a little girl waiting to break free, we just need to find the right therapies and tools that can help Ladybug.  It’s time to regroup, take a fresh look at our budget and maybe even plan a fundraiser.  Between my tenacity and Ladybugs resilience we WILL move mountains.

Tags: , , ,

Happy 1st Day of School 2016 – Year 3

7 Sep

I just put my little Ladybug on the bus to head off to her first day of school.  She was very excited last night when I told her she was going to school the next day. I envisioned her waking up with a huge smile, kicking and laughing while getting ready. Then chatting all the way to get on the bus.   Ya – not so much. When a princess is used to sleeping in until 08:00 all summer, the 07:00 wake up is a huge adjustment.  I’m sure once she gets to school and sees her teacher and all her friends she will perk right up.  We are truly blessed to have a school that is beyond a perfect fit for Ladybug so close to us.

Heading off to school isn’t just an adjustment for Ladybug, my biggest little man was a bit upset that he couldn’t go to school on the bus this morning too.  He seemed to calm down once I told him we were heading to Nana and Papa’s farm instead. He is set to start Nursery School in the next couple months, which I know he will love.  Who am I kidding, I will too!  The countdown is ON!!!!

This past summer has been great! Very hot, and a little crazy with 3 little ones – but great.  I will update all of our exciting adventures and news in the coming months.

img_0945

 

Tags: , , ,

Fighting an uphill battle.

21 Apr

I started writing this post shortly after Christmas this past year. It is a very difficult thing to talk about especially because it is so close to home. I originally wanted to title it 11 days, because in 11 days one family’s life changed forever. I’ve decided to broaden things a bit as I’m hoping this post will educate others about how dangerous a simple virus whether it be a cold, flu or GI bug can be to a medically fragile child.

This past December a brave little man from our CDG family was admitted to the hospital. For our kids this is a common occurrence, especially around the cold and flu season. This little superhero was otherwise stable in the weeks previous to this admission. He was probably in contact with someone who had a bad cold or some other type of virus that his body couldn’t fight off. Whatever disease a medically fragile child might be fighting chances are their immune systems are extremely low to non-existent. This is the case with my little Ladybug and other children with Congenital Disorders of Glycosylation.

After a few days in the hospital pneumonia set in. The entire CDG family was pulling for a speedy recovery for this little guy even though we knew it would be a struggle. He had overcome so much previously, everyone knew he was a fighter.

Around 9 or so days after admission his mother was told that he now had ARDS. Acute Respiratory Distress Syndrome is the sudden failure of the respiratory (breathing) system.  It causes a build up of fluid in the lungs and when there is fluid in the lungs it means less oxygen is able to reach the blood stream. This in turn will deprive your organs the oxygen they need to function.  Despite everything no one lost hope – our kids are fighters.

Day 11, December 24, 2013. Christmas Eve. This amazing, strong, adorable, little 5-year-old CDG superhero gained his angel wings.

This was devastating on so many levels for me. First, our CDG family is very close and although many of us have never met in person we still love each and every single child with CDG as if they were our own. Second, because this happened in as little as 11 days to a child with the same disorder my 4-year-old daughter has.

I’ve said it before and I’ll mention it again. I don’t want to keep my little Ladybug in a bubble. I know that when she goes to school, the grocery store, birthday parties etc. that she is always at risk for catching something. This is a risk I’m willing to take to give her the best “normal” life she can possibly have. I do however feel very, very strongly about others knowingly exposing my child or any other medically fragile child to any kind of sickness.

If you have had a cough and sound like a barking seal, runny nose with green slime, fever, diarrhea or vomiting within the past 24-48 hrs please, I beg you, stay home!  That plate at Easter dinner can be set aside and dropped off, your child will eventually get over not going to the birthday party because they have a really bad cough. It’s this kind of selfishness of people that absolutely boils my blood.

My hope was and is, that this post will help in some way open people’s eyes as to how dangerous viruses can be not only my sweet little Ladybug but to every child with a low immune system.

 In loving memory of Brady and all of the beautiful CDG angels. 10299503_10201623277615055_1704163598_n

Tags: , , ,

← Older Entries