The Smiling Faces of PIGN-CDG

Happy World CDG Day! 

Nine years ago I did the first of these World CDG Day posts, celebrating and sharing our rare community. It amazes me to look back and see only 10 families from 4 different countries when we now know of slightly more than 100 families from more countries than I can list. 

A quick bit of perspective (and shameless fundraising plug) is that 100 families around the entire world does not gain any traction in the pharmaceutical field for treatment. What hasn't changed in the past 9 years is there is still no known treatment for PIGN-CDG, so families are left treating individual symptoms like seizures and still receive a pretty bleak prognosis. We're working to actively change that (and have some promising initial results) through our parent-led drug-repurposing initiative. You can learn more about that (and donate if you choose) here.

In honor of World CDG Day, I want to introduce you to our rare, wonderful children (and now adults!). It is my honor to share these beautiful souls with you, most in their parent's own words. Though it's bittersweet each year to see those who are no longer here with us. 

Australia

Brianna, age 22, and Zachary, age 17

Brianna is a happy, cheeky young lady who loves music, sunshine and Peppa Pig. She loves going on train rides especially if there is a stop to grab a milkshake. Her giggles are as bright as the sunshine.

Zachary is a bundle of smiles and a ray of sunshine. He loves being around people and joining in every activity where he can. He also loves music,and you can always count on him to help out if you ever need a hand.

Zachary and Brianna are siblings who share a love of life!

Daisy, age 10

Daisy loves her independence, including helping herself to food from the fridge. Daisy loves all kinds of music, but her current favourites include Taylor Swift, Kasey Musgraves and her nana’s Rock 'n roll. 

Daisy enjoys surfing and went viral at a Taylor Swift concert!

Brazil

Rael, age 1 year

Rael is the happiest boy in the world. Sweet and adorable, he has an incredible will to live. He goes to therapy every day, and all the staff absolutely love him. He loves the beach, the pool, and being out in the sun. His canine siblings are his favorite playmates. Oh, and he absolutely loves eating and traveling! So many people follow his journey and are inspired by his strength!

How can  you not love Rael's sweet smile!?!

Canada

Isabel, age 34

Isabel loves life!  Each day she wakes up smiling, looking forward to what excitement the day will bring.  She likes to use her iPad to talk, to read, to make art, and to look at photos of her favourite people, animals, and Beanies.  Isabel loves to draw and make music.  Her favourite instrument is the drums.  She is an avid Beanie collector, and Isabel loves to shop for these, and to meet new people.  

Isabel is such a fun young lady!

France

Alliya, age 18

Passionate about music, Alliya loves watching music videos with her headphones, following the show Familles nombreuses on TV, and dancing. That’s why she joined an inclusive Zumba association, where she receives personalized support to learn choreographies. She also enjoys spending time with her little brother and, most of all, going out with her family.

A true foodie, she never says no to a McDonald’s meal or a restaurant outing. But what she loves the most is traveling by plane and enjoying vacations by the sea—moments that bring her immense joy.

Alliya loves zumba and vacations!

Hugo, age 5

Although Hugo does not walk or speak, he is a super happy boy. He had gastrostomy last year that changed his life, and he can still enjoy food during the day. It is a beautiful adventure to live with Hugo, and every step we take together is a success.

Hugo is a happy boy with his family!

Germany

Anna, age 7

Anna is a happy girl and the best big sister. She loves music, dancing and swimming and pizza. She loves to be together with her family. She also likes being at school and going by the school bus. She has the most precious smile. 

Anna is such a fun, sweet girl (who my Mom and I got to meet in Germany)!

Lotta, age 15

Lotta loves to go to school and meet her friends there. She loves drawing and cooking. She walks a lot together with her family and dog and is sometimes bored of her parents.

Lotta is a beautiful, creative young lady!

Hong Kong

Annabelle, age 4

Annabelle has an infectious smile and loves to hug people. Her special power is making anyone feel special (aww she must like me) as she would hug anyone … literally. She loves going to school (kindergarten) and claps to music. 

Can't you hear Annabelle's laughter from this adorable picture?

Italy

Joele, age 3

Joele loves playing, being with children, being outdoors and is always smiling.

Joele loves fresh air!

Marco, age 4

Marco is a sunny child, always smiling and stubborn about the things that interest him. He loves being with his friends and is loved by everyone.

Marco is social and loves to make guest appearances on our PIGN zoom calls.

Margherita, 9

Margherita is the sweetheart of the family. Her character is beautiful, and she is sunshine on cloudy days.

This sweet girl lives with her sister Matilde.

Matilde, 14

Matilde is a beautiful teenager. She has immense inner strength despite having a weak physique. 

Matilde paves the way for her younger sister Margherita.

Korea

Jooyuri, age 2

Yuri is a toddler with a lot of laughter. She likes to hug her grandfather the most and play with the dog. Yuri is a toddler who always smiles brightly. She is a charming friend with a dimple. 

Yuri is such a sweet girl!

Northern Ireland

Amelia, age 3

Amelia is social child who loves been around people. Amelia loves Bluey and her sensory toys and being around the people that love her. 

This sweet girl keeps her mum on her toes!

Charlie, age 5

Charlie is Amelia's older brother. This happy boy seems to need no sleep to function, just like his sister, but not like his poor mum.

Charlie is such an adorable lad!

Chloe, age 5

Chloe is a happy, loving child and is very social. She loves having fun, dancing, music (especially Abba), art, shopping and playing with her friends at school. She also loves to help out at home, especially with her baby sister, Phoebe.

Chloe has great taste in music!

Poland

Antoni, age 15

Despite his disability, Antoni is a joyful teenager who loves the world and people.

Antoni is a handsome young man!

Emily, age 14 

Emi hates wearing socks and loves her bare feet. She's a big sister who loves her brother!

Emily's mom founded our PIGN group and is a great advocate!

Kinga, age 17

Kinga loves to play with other children, enjoys baths and playing on trampolines.

Kinga is a beautiful young lady!

Konrad, age 3

Konrad is a joyful child, and he likes to eat a lot. Konrad loves to play with toys, and he enjoys life.

Konrad loves to play like every other toddler!

Zuzia, age 7

Isn't Zuzia adorable?

Qatar

Olivia, age 7

Oliva is a happy girl who loves socializing. Even though she is non-verbal, she finds a way to express herself with giggles or eye contact that makes her absolutely adorable. She's a fan of music and dancing!

This little lady loves to dance!

Saudi Arabia

Abdullah, age 4

Abdullah is a child who has been in the hospital since birth and has never seen the outside world. He is a calm child, but he is not aware of his surroundings and his condition is relatively stable.

Abdullah is a sweet, calm boy.

Spain

Claudia, age 6

Claudia loves playing in the water and enjoys being around animals. Her favorite thing is coloring. 

Claudia is an artist!

United States

Adeline, age 7

She loves to ride her horses, she has loved her swimming therapy and can now read her name! 🙂

Adeline is active with swim therapy and horse riding!

Alexa, age 12

Alexa is the life of the party. She loves to be around people. For her, the more noise and excitement, the better. She also loves to chew on anything and everything she can get her hands on, to a fault. She’s full of spunk, sassiness, and smiles. 

Alexa is all sugar and spice! She's a doll who we've been lucky to meet twice.

Alice, age 6

Alice loves a good laugh and usually gets one when she sees objects thrown in the air or fall onto the ground, when she’s tickled, or when she’s watching Bluey or Blippi and Meekah. She used to be a big foodie until she switched to a g-tube diet for her safety. She still misses her old foods, but hopefully, with feeding therapy she’ll be able to have them again one day. She loves being around her younger brother and going to school.

Alice is all smiles! Her parents are tremendous advocates, leading the drug-repurposing project!

Aniyah, age 10

Aniyah has a smile that lights up any room. Despite everything she has been through, she still smiles.

That smiles reaches beyond any words!

Camilia, age 8

Mimi loves makeup and playing with her dolls. She loves music and being creative. 

Mimi has style and smiles!

Charlotte, age 1

Lotte is a little ball of sunshine. She's 1.5 years old, and she absolutely loves her big brother, her puppy, and her kitty (and they love her). She spends her days playing with her rattling toys and watching big brother run around the house like a crazy person.

Lotte loves her big brother!

Gianna, age 9 months

At just 9 months old, Gianna is a shining example of strength and spirit. Despite all the challenges, she remains strong and is her family's little warrior. Gianna loves to hear the sound of familiar voices and enjoys when they read to her. 

Gianna loves her family and enjoys listening to books!

Hayden, age 4

Hayden is the sweetest little boy with a smile that can brighten any room and a laugh that brings joy to all who hear it. He loves listening to music and going for walks. This year, he has been riding the bus to preschool and gets so excited when he hears the words "school" or "bus" or "friends"!

Hayden love school and his friends! He's a sweet dude who we met in person!

Hazel, age 4

Hazel is always so full of joy. She loves meeting new people, but you will always know who her favorites are. She loves music of all kinds. Pink and purple are her favorite colors. One of her many strengths is being able to use sign language to communicate with people. 

Hazel shares her joy with others!

Holly, age 2

Holly is Alexa's big sister. Holly was a fighter who passed away when she was 2 years, 4 months. Holly always had a smile when her mom was nearby.

Holly was full of smiles when she was near mom!

Jacob, age 3

Look at that smile!

Julia, age 8

Julia loves riding her horse, Peppa Pig and her family!

Julia loves Peppa Pig!

Konrad, age 6

Konrad is always smiling and happy, and his smile makes everyone feel better. His smile is contagious.. He is full of energy and very active and loves to play with his siblings. He also loves  his toy piano and various toys that he can bite on. Konrad only when he is hungry he can be cranky-he always has a good appetite and loves home-cooked food. 

Konrad is active and loves home-cooked meals!

Levi, age 4

Levi is mostly non-verbal, but he occasionally says a word. He is able to walk, though he's unsteady. He attends preschool.

Levi brings joy wherever he goes!

Maddison, angel at age 9

Maddison was a happy girl. Her smiled lit up a room. She was also very onery!! She loved being outside on her swing no matter the weather.  She also loved being around her family and siblings. She is our angel girl!

Maddy lived her best life with her loving family!

Nicholas, age 8

Nicholas is our little ray of sunshine, a blessing to us from God! He loves listening to all different types of music, is a wonderful, easy going, fun-loving boy, who’s in the 2nd grade! He enjoys playing with his little sister, cuddling/snuggling with his mom, babbling with his dad and adores his grandma who cares for him while his parents work. 

Nicholas has  a special relationship with his grandma!

Ryan, age 20, and Zach, age 23

Zach and Ryan love traveling, being outdoors and music! They are usually joyful and ready for adventures. 

Ryan and Zach are travel buddies who love cruises with their family!

Sammie, age 18

Sammie lives life with so much joy and love. She is very social and loves going to school, shopping at the mall and participating in activities with her friends. She loves music and has recently discovered the excitement of going to a concert (specifically Taylor Swift!).

Sammie is a social butterfly who loves music!

Sebastian, age 5

Sebastian is the sweetest kid in the world. He loves dogs, water and nature. He also loves to play with all types of strings. He is a warrior and super affectionate!

Sebastian is all smiles and affection!

Taytum, age 5

Taytum is the sassiest, most social, and loving little girl. She loves music, baby dolls, and spending time with her favorite people! Her perfect day would include riding around on golf carts, tricycles, truck rides with dad, eating a grilled cheese and Reese, and playing with her big brother.  She makes life so fun!

Taytum is the perfect blend of sassy and sweet!

Teddy, age 11

Teddy is a happy, social boy who loves to be around people - he literally jumps for joy when he sees his favorite people! Teddy loves trains, buses and especially tractors and often spends his summers driving tractor with his dad and grandpa. Teddy loves being in middle school, especially all his friends and his teen life class where he bakes and cooks (and then eats!).

Teddy's smile makes up for his shenanigans ... most of the time!

Zayir, age 4 months

Zayir taught us so much about patience, faith, and love. He has so many love to give with his siblings and parents. Zayir is a warrior since the day he born! 

Zayir is a little fighter!

A Rebel Alliance

No, I'm not talking Star Wars. 

I'm talking parents of rare children. Specifically, I'm sharing an update on the PIGN-CDG drug-repurposing project. If you don't have time to read much, then check out this update from Perlara: Research Update. If you have more time, continue on.

As you may be aware from prior posts, our rare community is researching whether existing known drugs or compounds could be beneficial in helping our PIGN children. You can read more about the initial scope of the project here: Drug Repurposing Fundraising Many of you have generously donated directly or supported AJ's fundraisers selling fidgets and dragons that he creates himself on our 3-D printer. (You can still donate directly here: Tax-Deductible Donation or order dragons/fidgets here: AJ's Fundraiser)

To greatly simplify PIGN-CDG, Teddy's body cannot process sugars on the most basic cellular level. If you recall sugar chains and cell processing from biology, well, kudos to you because I don't. But you can think of it like an assembly line in a factory that has a broken part that prevents most of the pieces from being perfectly assembled. They may be somewhat functional, but it's rare (no pun intended) that they are fully functional. This results in all the challenges our children face, from seizures to hypotonia to respiratory challenges to developmental delays and the list continues. Their bodies don't function right on the cellular level, which obviously impacts them as a whole. 

It doesn't stop Ted from enjoying flying fighter jets, though.

This also complicates potential treatments because all medications and treatments can be impacted as well by these faulty sugar chains and processing problems. Everything can be a bit (or a lot) off with our children. Combine that with the fact that there are approximately 100 known cases of PIGN-CDG, and well, it's understandable why there's no treatment for this disorder. We can only treat the individual symptoms (aka treat the seizures, manage the hypotonia, etc.) and do nothing to improve the overall health of our children. 

That's why this drug-repurposing project is invaluable. This ground-breaking scientific research is taking a huge bank of known medications and compounds to see if anything that already exists could be used to improve the overall health. This is a long, expensive process. 

But it's so exciting that we're seeing promising results. As Perlara's update shares, some families have been piloting ascorbyl palmitate and seeing improvements. This compound can be easily accessed without a prescription in many countries, though each family must still work through their medical team. We are a bit later to start due to the events of last year, but we have baseline labs scheduled in a week with a bottle of ascorbyl palmitate secured. (Hmm, that reminds me we need to take baseline videos of Teddy this weekend.) We will start him at a low dose for a month, monitor and recheck labs and then potentially increase his dose. 

While we don't anticipate any overnight, drastic changes, any improvements for our PIGN children are huge. You may read the research update and think, well, that's just normal developmental milestones - it could be just that the child is getting older and advancing. But our children don't follow normal milestones, and they lag months or years behind most, if they achieve them. So any progress noted in a couple months of trialing the compound is fairly reasonably associated with the compound (though we will leave that up to the scientists and doctors with baseline and other labs, video evidence, recorded seizures, etc.)

We're excited about what this could mean for Teddy. We're excited about what it could mean for all our PIGN families, both present and those who get this difficult diagnosis in the future. So the next steps, while we continue to fundraise, is that because it's an over-the-counter compound, we're able to pilot and trial on our own as families (similar to how we've fundraised) without FDA approval. Perlara is busy in the lab and will be testing the best hits, including this ascorbyl palmitate, on the DNA samples from various PIGN children, including Teddy. This is the next step to evaluate what works best with real human PIGN mutations (of which there are many). The hope is that we continue to make progress and do move to the point of FDA trails, whether for this compound we have now or something different. 

The science will take years, and we so appreciate your generosity and support. It's exciting (and expensive) to be at the forefront of medical and scientific research that will directly benefit others like Teddy.

Happy World CDG Day!

Happy World CDG Day! Today is a day to celebrate (aka raise awareness) of Congenital Disorders of Glycosylation. There are more than 160 different types of CDG, and Teddy is affected by PIGN-CDG. PIGN is extremely rare, as we were told it appeared Teddy was the 15th in the entire world when we got his diagnosis in 2015. We now know of approximately 100 cases of PIGN-CDG between research and our global PIGN community, which feels like so many compared to the handful of other families we first met virtually in January 2016.  

An oldie, but goodie for World CDG Day!

Today is about raising awareness. AJ, Teddy's older brother, is doing his part in presenting at his school. He's done this every year since kindergarten, at first with me leading the way and then him creating and sharing more and more each year. In fact, this is the first year I think he's flying solo for his presentations because I'll be at a conference presenting about building your community and connecting with others when your child has a unique diagnosis. AJ does a phenomenal job with his presentations, and he also manages to tie in his fundraiser where he's 3-D printing fidgets and dragons for research. If you're interested in ordering from him to support his fundraising, you can click here.  

Speaking of fundraising, I'll put in a shameless plug for our overall fundraising effort. We, as a collection of PIGN-CDG families, are working with scientists, doctors and researchers to research potential treatment options for PIGN-CDG. The current approach is drug repurposing, which evaluates thousands of known compounds (including medications, supplements and other compounds) to see if any of them may potentially benefit PIGN-CDG. This is expensive and time-consuming research, and it's all being funded by donations and fundraising as 100 people in the world doesn't tend to pull in the interest from big pharma. The progress we're making is exciting, with a handful of compounds that show promise to test on skin cells. Teddy provided a biopsy last year, so that his cells and specific mutation may be included in this testing phase. (Fun fact, of the 100 families with PIGN, very few are affected by the exact same mutation ... many of our kids have unique mutations that impact their overall functioning.) If you're interested in helping to fund this important science, you can donate here. 

If you're wondering why you'd want to donate, simply watch the video at the end of this post. This video represents a large number of the individuals affected with PIGN-CDG. You'll notice little doves by some names. Those are the sweet souls who we've lost, as this disorder takes our children from many of our families far too soon. 

Now, if you're still reading and wondering what in the world CDG is, I'll give you the cliff notes version. It is not Cute, Daring and Goofy, though that is what sometimes I feel is true for Teddy. Congenital means it exists from birth. This is a lifelong, genetic condition. Disorder seems to be pretty obvious, meaning that something doesn't function as intended. Glycosylation is the tricky part of this diagnosis, both to say, understand and do (for those affected). Glycosylation is how the body processes sugars on the molecular level. This has nothing to do with eating sugar but rather the building blocks of cells and how cells process those building blocks. Essentially if you think of each cell as a mini factory, there's a defect in the assembly line and the sugar block can't be added to the protein chains. These chains are what help our bodies do every function, which is why CDG-PIGN affects someone on every level. This site does a much better job of explaining glycosylation than my jumble of metaphors. 

So, there's my bit of education, awareness and fundraising for World CDG Day! Now enjoy the sweet, smiling faces of PIGN that bring so much joy into this world! (I'll try to get the video directly embedded in this post, but for now, here's the link to the reel.

Rare Disease Day: 2024

Rare Disease Day is always celebrated the last day in February, and it feels extra special when it falls on February 29 because that's extra rare. It's a day to focus on rare diseases and raise awareness of them. 

One of the common sayings you'll hear is Show Your Stripes. The reason is that often the medical community thinks of the most common diagnosis just as people most often think of a horse when they hear hoofbeats, for example. The challenge is to consider rare explanations as well, such as a zebra (or in Teddy's case PIGN-CDG).  This year, I was on top of my game and created these little key chain cards to share with Teddy's team and classmates at school to raise awareness. 

Another PIGN mom gave me the idea for these key chains. 

I time traveled this week, reading this blog post from 8 years ago in 2016:  Teddy's Triumphs and Trials: Rare Disease Day (teddystriumphs.blogspot.com) This was 3 months after we first learned Teddy's diagnosis. In the past 8 years, so much has changed. To name a few of the most significant:

1. Teddy's diagnosis is now PIGN-CDG, a more encompassing and accurate description than his original diagnosis of Multiple Congenital Anomalies-Hypotonia Seizure Syndrome 1 (MCAHSS1 for short because that's still not a mouthful.)
2. Instead of knowing less than 5 families with this diagnosis and being the supposed 15th in the world, our .community has grown to closer to 100 with the diagnosis and their families. 
3. Teddy is now 10 and capable of doing so much more than we could have imagined 8 years ago. Not to mention, he's thriving and has made an outright mockery of the life expectancy (3 years) given in the first medical research papers. 
4. An Internet search of PIGN-CDG now yields 6,360 results instead of 3 for MCAHSS1 in 2016. Seriously, that blew my mind that Google didn't have results for our son's diagnosis. 

Yet one significant thing has not changed: 8 years later, and there's still no treatment for this disorder. AJ does a great job explaining this in this Facebook post. (For whatever reason I couldn't get the video directly into this post.) If you'd like to support AJ's in fundraising for PIGN-CDG research, you can place your fidget order here.

This fundraising is so important because research is expensive. While there's much interest (and therefore money) dedicated to researching treatments for wide-reaching disorders and diseases, there's not much interest and money in researching treatments for a diagnosis that affects approximately 100 known people. 

But trust me, the effect this disorder has on those families (and their families, friends and communities) is far reaching. It's an honest statement to say Teddy's diagnosis has impacted every single aspect of our lives. Some of those impacts have been beyond positive: friendships forged, connections created and memories to last a lifetime. Others have been beyond challenging: sorrows shared as we lose children with PIGN (2 within a week of each other this month), trauma from seizures and sicknesses, endless appointments and therapy, elopements and other scares. 

For each of us impacted by this disorder, we care deeply about a treatment. We want to change the fact that we grieve the losses of our children every year. We want less hospital stays and better quality of life for all. Honestly, we want to sleep at night without fearing our children won't wake up in the morning. We want hope, not only for our children, but for those who have yet to receive this life-changing diagnosis.