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!

World CDG Day!

Each year my friend Ashleigh creates a video compilation of our PIGN kiddos in honor of World CDG Day. She does an amazing job and honors all the families who'd like to be included. It's been so incredible through the years to look at how our children have grown and think of the milestones and successes so many have experienced.

Yet it's heartbreaking to see those children with doves by their names, as the doves symbolize those children  no longer on this earth. Each of these losses is felt deeply in our PIGN group. We grieve with the families who lose their sweet babies, and we hold our own children a bit tighter. We're suddenly grateful for the sleepless nights, the shenanigans and every struggle of everyday life because we know those parents would give anything back to have one more sleepless night, one more set of shenanigans or one more struggle of everyday life. 

It's always so heartwarming to share this. It gives so much hope and happiness to our PIGN families. It's a way to remember and honor those who have passed, keeping them alive in spirit. It's a way to celebrate the triumphs and trials of our beautiful children. 

Be sure to check back tomorrow to get to know some of these wonderful children a bit better!

Research - Slow, Steady and Promising

As we approach World CDG Day on May 16, I want to share both a research update on our drug-repurposing project and a shameless fundraising request.

I shared earlier this year about our Rebel Alliance, which you can read all about here. In the past 2-3 years, we've made slow, steady progress with our drug-repurposing research project. 

There are currently 3 identified possibilities to continue testing with human cells in laboratories. (In the beginning of this project, Teddy donated a skin sample to be used for future testing like this.) There's no guarantee that Teddy's sample will be used (and may be less likely because of the science of his mutation. Fun fact, there are many different variations of PIGN-CDG depending on whether the gene is missing a piece, has an extra piece or got put together in the wrong order (splice site). Teddy has a splice site mutation (thanks to me!), which is one of the harder ones to use for testing. These variations in mutations explain the drastic difference in how each person is affected. 

One of those possibilities is a fat-soluble form of vitamin C. This means it is readily available (at least in the United States) and does not require a prescription. As a result, some of our PIGN families have already begun use of the supplement with medical support.

While the science continues, we're now working to begin a combined phase 1 and 2 clinical trial. The reason for combined phases is because we have such a small sample size to work with that we have to adapt the process. We're looking for families who haven't been early adopters with the unofficial testing to be a part of a clinical trial, which is our next step within our PIGN group.

Meanwhile, all this science is expensive. As I've said from the start, your donations do not directly go to Teddy, but they contribute to the research project that benefits not only the PIGN-CDG community but also the larger community of CDGs. (PIGN is one of more than 100 different types of CDGs, and the research we're doing has implications for other subsets.) Also, this is cutting-edge science, so there's no guarantee we'll find results (though initial results have been promising). 

If you'd be willing to donate or spread the word, both are greatly appreciated. You can donate directly here.

Yeah, we've both grown since 2022. Yet he still thinks he can do this.

Train Time

When you live in Wisconsin, you look forward to signs of spring. Whether it's early tulips and daffodils poking through the cold ground, the grass slowly turning green or the warmer days, they're all harbingers of spring. Teddy's favorite sign of spring, though, is the start of train rides at the National Railroad Museum. 

We're fortunate to live within an hour of this incredible train museum. Like our membership at EAA, one day I hope to go and actually read all the exhibits, but for now I get to enjoy bits and pieces, whatever I can read in the moments that Teddy stays in one place. Usually, though, he's on the go exploring all the trains. This museum is fantastic because so much of the exhibits are a "yes," not a "no" for Teddy. What I mean by this is that you're allowed to climb inside and walk through more of the displays than not, which is exactly what Teddy wants. 

I mean, really, it's not enough to just see a train. You have to walk through it, sit in it and, of course, try to drive the engines! That's how you experience the full joy!

One of the great things with a membership is that we can visit for 20 minutes if Teddy isn't feeling it (usually never the case) or as long as we want. A membership means a quick visit is just as worth it as a long visit when you're not paying an individual fee for entrance only to have a tough day and have to leave early. 

The best part of the membership, though, is the train rides that are included! There's a 20-minute or so train ride every 2 hours during the warmer months. A perfectly time visit starts with a train ride, followed by exploring all the trains and exhibits, capped off with a second train ride. (We might be the only family to double up on train rides, but I doubt it.)

Train rides are one of the best things!

This past weekend was the NFL draft, hosted in Green Bay. This meant the population of the city was more than doubled in size to host this event, which made people shy away from the city if they weren't there for the draft. It also meant the train museum ran train rides on the hour.

So we drove the hour north, hedging our bets that traffic wouldn't be a nightmare and that parking at the museum wouldn't be too bad. And we struck gold. Since so many people didn't venture out, the museum was remarkably quiet. In fact, we had the first train ride as a private train ride, during which Teddy befriended the conductor and made him sit right next to him. It was a great experience, fantastic to hear this kind volunteer who trains all other conductors take interest in Teddy and share how they are dementia certified and work to make it a great experience for all people. We got to witness this in action on the second train ride of the day when another child who plays in Teddy's baseball league was really excited and then agitated and sharing that with vocalizations. The conductor simply paused in his tour when necessary and picked right back up, never judging or making the experience anything less for anyone ... well, except maybe Teddy who still thought the conductor should sit right by him again. 

Teddy and his new best friend, all smiles!

When Darling Becomes Dangerous

This. This is one of my greatest fears.

Click here to read the news story.

That my non-speaking child will be perceived as a threat and lethal action taken.

I dread the day he ceases to be seen as cute and is perceived as a threat. It's easy enough for me to imagine a slightly different situation with Teddy that looks equally dangerous to people without context. Whether it's a knife, a power tool or any other "weapon," I know Teddy wouldn't process police commands, even if he understood them, quickly enough. I know that his hysterical giggles, especially when he thinks he's being silly, could be mistaken for maniacal laughter. I know he doesn't have the words to explain his actions, and that not responding can be perceived as non-compliance. I know his unsteady gait could be mistaken for alcohol or drug impairment.

I also recognize that I'm not alone in this. So many other mamas fear the same thing. For many, it's because our babies are different than society's norm. (Honestly, we're all different, so what is the norm?) But for others, it's simply the color of their babies' skin.

Rare

Rare. 

One in a million.

Carving my own path. Writing my own story. Changing the world without a word. 

Rare joy. A smile that lights a room. Saving grace from my shenanigans. Jumping for joy. Living in the moment. Laughter that captivates.

Rare strength. Tirelessly working. Adapting. Learning. Trying.

Rare love. My people are my everything. They understand without words. They hear my heart.

Rare friendship. Brothers bonded. Advocate, teacher and protector. Fierce defender. Fun friend.

Rare enthusiasm. Bouncing for buses. Tractor time. Train rides create treasured memories. Pontificating for pontoons.

Rare. Loved. Valued. Beyond measure. Beyond words.

Rare. Loved. Valued.

*This came from a training on diversity that encouraged us to describe ourselves in 100 words. I then completed the exercise for Teddy as I often serve as his voice. 

Spring Break Sickness

Ironically, Teddy got sick again this year exactly a year to the date as he did last year during spring break. Last year, his bout of RSV destroyed our spring break plans, and our spirits to be honest, because we had to cancel our flights and hotels. This year we had no big plans, so his crud only ruined his spring break and mildly messed up our adult plans for work and visits with grandparents. Thankfully, AJ still got 2 sleepovers and 3 visits with friends, plus a super fun escape room camp. I'm glad his fun wasn't hampered by the crud. 

Also, I'm grateful Teddy weathered his weeklong illness with no seizures. He had a pretty toasty fever of 102, and he weathered it overall well. He wasn't so miserable that he was trying to climb out of his skin, no vomiting (which for some odd reason makes him want to strip naked ahead of time?) and no hives. All in all, he handled it extremely well. Sometimes we forget to be grateful for these blessings.

He's the happiest sick kid you can imagine sometimes.

To be fair, it's a bit harder to be grateful when he passes the nastiness to me, and I realize just how miserable he was. It knocked me out of running for a full week (and it's still a wee bit hard to breath), but thankfully I'm on the very tail end of it with just occasional coughs. This allows me to be fully present for the Wisconsin Autism Conference, which is great learning opportunity for me.

With an extremely rare genetic disorder, there's minimal research and resources for PIGN and CDG, though our small community is strong and extremely helpful. With his autism diagnosis last year, it was almost overwhelming the amount of resources and learning opportunities that exist.