World CDG Day Recapt

It's been a month since World CDG Day, and I wanted to share how incredible the day was. I had every intention of creating a collage of all the support for Teddy and others with green shirts but simply never got there. But every picture shared, every shirt worn, added a bit of awareness and reminded our family how much love there is for Teddy and our entire family.

It was a day of worldwide connection with our other PIGN families through the blog post sharing a number of our children, along with a video showcasing even more. It's incredible to see how large our group has grown since we first found it in December of 2015 when there were about 5 families.

What made my heart nearly burst with pride, though, was AJ's advocacy that day. He spent the month prior coordinating with everyone from the principal to all the 7th grade science teachers to Teddy's teacher to arrange presentations for all 7th graders during their science classes. He was able to share all about CDG, talk about what it's like for Teddy and him and promote the research and fundraising project he's doing for the research. 

AJ is developing really good speaking skills for his age.

AJ did phenomenal! He presented 6 times, spending most of the class period with his presentation and the really good QA sessions that followed. The principal even joined for his first presentation! It was really neat to hear the thoughtful and insightful (and random) questions from 7th graders. 

One surprise in his presentation was that he added a slide about bullying. AJ was brave enough to share his personal experiences in feeling hurt and sad when others laugh at Teddy's vocalizations in the hallway or make comments, even if they don't intend to be mean. I thought this was incredibly brave of him.

At lunch AJ and Teddy teamed up to hand out CDG cookies to all the 7th graders. Teddy did amazing in handing out cookies with AJ's support. One of the coolest things was that a couple boys came up, and assumed they were coming for cookies. I told them they'd have to wait until their table was dismissed. They said, "We're just coming to say hi to Teddy like AJ encouraged us to do." They smiled, waved and said hi before heading back to their table. 

Teddy loved his job of handing out cookies.

It was such a neat experience, and AJ is already excited about possibly presenting to all the 7th graders again next year as they will be Teddy's peers.

It was really special to be a part of this day.

Improvisation

This past weekend I noticed Teddy got a bit creative to entertain himself while we were driving. He took the string of his lacing toy, inserted one end into the charging port of his phone and inserted the other end into his ear. He created his own ear buds for his phone, a modern spin on the old-school telephone game.

This kid cracks me up.

Really creative approach to make your own headphones.

Summer Bucket List

It was a year ago that I was in tears, struggling with the transition for Teddy from the elementary school where he'd been for 6 years (5 with the same teacher) to a middle school that none of his elementary friends would attend. I knew it would be fine, but it was hard to say goodbye, especially with Sigrid there to fill us in on the daily shenanigans.

While it was a bit bumpy to get the school year started, I can confidently say that Teddy is rocking middle school with the support of his team. He has developed some great friendships that go beyond the classroom, and there's so much excitement to see his friends at after-school activities. He's made friends with his peers, and, of course, he's befriended his paras, teacher, therapists, nurses, and more. 

It's clear how much his team has learned about Teddy this past year - and how well our communication system is working with a non-speaking child - to see his summer bucket list. They absolutely nailed it!

This is perfectly Teddy!

Aside from missing a pontoon boat ride, this list is Teddy. It's a little thing, a bucket list activity that so many kids do this time of year, that captures the big, important things ... that his team knows him, understands him and cares for him.

Just Another Wednesday

It's story time! And when I say story, I'm not talking a fictional episode. I'm talking a real-life, Ted-venture. (That's our word for adventures with Ted, which is used frequently in our house, mostly to talk about community outings.) It's a bit long, so get comfy and settle in.

I will preface this story with my appreciation that folks were all acting with Teddy's best interests and safety in mind, and I very much appreciate that. I will also add that I thought the best Teddy story I'd have this week was the fact that he disappeared at his friend's house and was found in the bathtub fully clothed with the water running, but it's not. 

This story starts with me attending a quarterly board meeting for my non-profit organization, with me as the official recordkeeper. In case it's not clear, to take accurate minutes for a meeting, it's important to be in the meeting. Ten minutes into this meeting, I notice "Bus Company" calling me. 

That is not a call I can miss, so I step out to take the call. In talking with dispatch, I hear that no one is at our home. So, they are calling to check if Teddy can be left alone. If you're brand new here, you might not realize the answer to this question is either uncontrollable laughter or something that sounds a lot like "Duck no!" I opt for the more professional route, tell them he absolutely cannot be left on his own and that I need a few minutes to figure out why his childcare provider isn't there. 

I immediately call Dave and ask him to head home immediately because he's only 30 minutes away. I then call the supervisor for our brand new ABA provider who started the week prior. Thankfully she answers. I share that no one is at our home, which is confusing to her because she had just texted Teddy's staff member who was supposed to be at our house. She said she'd try to call the staff member and get back to me. She called back after not being able to reach the staff member and said she'd head right to our house to get Teddy off the bus in about 10 minutes. 

While I'm talking to her, the bus dispatcher calls me back again to report that AJ has arrived home. He asked whether Teddy could be left with the 13-year-old brother. My answer was unfortunately not but that we had another adult human who would be there in 10 minutes. He acknowledged this.

I returned to my meeting because it's impossible to take minutes when you're not there, knowing that I had a solution arriving in 10 minutes. When AJ text me while I was in my meeting, something about an authorized adult, I told him Dave was on his way home. I also missed a call from our next-door neighbor but wasn't about to miss more of the meeting when I had everything as fixed as possible.

And ... pause. Now that you've heard my version of events, let's transition to what really transpired in our cul de sac (as best as we can determine). 

Teddy's new ABA therapist arrived at our house and was present when Teddy's bus arrived. There was a brief exchange during which she confirmed she was Teddy's service provider. (For context, she was with me last week when Teddy got off the bus, and Teddy promptly grabbed her and pulled her into the house.) Teddy's bus driver would not release Teddy to her care as she wasn't Teddy's parent.

When AJ's bus arrived, and I didn't authorize for AJ to be responsible for Teddy, they moved Teddy to AJ's bus. This was because AJ was the last kid on his route, while Teddy's bus still had a handful of kids to return to their homes. (Keep in mind, my calls with dispatch never mentioned the fact that our childcare provider was there, that there was an adult present, etc. The calls simply were asking if Teddy could be left alone or in the care of his brother.)

So, now both Teddy and AJ are stuck on AJ's bus, which is sitting in the end of our cul de sac. We have Teddy's ABA therapist waiting, and then her supervisor arrives. The person we're paying to support Teddy is in our driveway/road while Teddy is stuck on a bus. I will say, though, that if you're going to make Teddy wait anywhere, a bus with his friends and then an empty giant bus are the absolute best places to make him wait. 

Just a boy who loves buses.

About 30 minutes after I got the first call asking if Teddy could be left alone, Dave arrives home. He's obviously focused on getting in the house, getting debrief, etc. So while he notices the 2 cars for the caregivers and obviously the bus, he simply wonders what happened to the bus that it broke down and was stuck in front of the neighbor's driveway. He heads into the house and is puzzled to find an empty house ... until both kids are released and head inside followed by the 2 caregivers.

And, that my friends, is apparently just another Wednesday night in our household. 

Oh, epilogue: After talking with the bus company this morning, there is absolutely no policy or list of approved or authorized people. They only need an adult visible in the window at the home to make sure the kid is not left alone for young kids or those with disabilities. We did confirm that any adult who is in our driveway there, stating they're there for Teddy, is able to take Teddy. 

Don't worry ... I'm sure that will lead to the next saga being the story of the time Teddy decided to work for UPS or Amazon.

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!