Happy World CDG Day!

Happy World CDG Day! 

It's been 10 years since I first did 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. I also have a hard time comprehending how much our children have grown (where many now fall technically into the category of adults) and breaks my heart how many we have lost through the years. 

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 10 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. You'll notice several siblings throughout the post as this is a genetic disorder. You'll also see the loss our community experiences with just a few of the sweet angels heaven has gained.  

Australia

Andrew, angel at age 5

Brianna, age 23

Brianna is a happy young lady who loves music, roller coasters and milkshakes. Her favorite thing, other than her IPad, is to lie on the grass and soak up the sunshine. Brianna is the older sister to Zachary. 

Daisy, age 11

Daisy is an 11-year-old girl from Australia who loves nothing more than being in the ocean or out on the water. Whether she is swimming, sailing, listening to music or singing along to Taylor Swift, she is happiest when she is active, outdoors and surrounded by the things she loves. Daisy is at school, and music is a huge motivation on her in all parts of life.

Scott, angel at age 15

Zachary, age 18

Zachary is our ray of sunshine. He always has a smile on his face and loves being surrounded by his family and friends. He loves to play soccer and loves listening to and playing his guitar to his favorite music. Zachary is Brianna's younger brother. 

Belgium

Jarne, age 21 

Jarne is a cheerful young man who enjoys watching videos on YouTube.

Brazil

Rael, age 2 years

Rael is a very happy boy who loves to eat, play, and sleep. His life is driven by music and love, and he loves sharing amazing moments with family and friends.

Giovanna, age 7 

England

Luka, age 3 

Germany

Anna, age 8 

Anna has the best smile. She loves music. Swimming, playing with her sister and her favorite food is pizza. She is the strongest little girl. 

Ernest, age 2 

Lotta, age 16 

Lotta loves to be at school with her friends, walks a lot with us during holidays and is very open minded.

Hong Kong

Annabelle, age 5 

Annabelle is the light and joy of our lives — the happiest little girl on the block. She recently learned to nod her head, and now proudly uses it to tell us exactly what she likes and dislikes. Her current obsession is Frozen’s “Let It Go,” and she lights up with pure delight, spinning and dancing every time the song plays.

Italy

Marco, age 5 

Marco is a sunny, always smiling child, and he is very stubborn. He likes copy adults and staying with other children and people. He likes playing outside with little tractors and cars and he is attracted by everything that has a display.

Northern Ireland

Chloe, age 6 

Chloe is a happy girl who brings energy and warmth wherever she goes. She's naturally happy, fun and loves being around others, always ready to make new friends or lend a helping hand. Chloe loves to be as independent as possible but also has a caring side—especially when it comes to looking after her baby sister, whom she adores helping (even at nappy changing time!). She loves school and throws herself into everything she does, especially dancing and arts and crafts. 

Poland

Alicja, age 7

Antek, age 4

Antoni, age 16 
Antoni is a cheerful, curious teenager whose health challenges don't stop him from loving people and exploring the world. 

Emily, age 14

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

Iga, age 7

Jan, age 3

Kaja, age 13

Kazik, age 5

Kinga, age 18 

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

Konrad, age 4 

Konrad is enjoying life. He is a happy boy who loves to eat!

Laura, age 14

Lena, age 7 
Lena is a cheerful and always smiling girl. She loves bubbles, sand, water and all sensory toys. She enjoys dancing and listening to music.

Lena, age 9

Maja, age 10

Olek, age 8

Patrycja, age 16

Yeva, age 6

Zoja, age 6 months

Zuzia, age 8 

Qatar

Olivia, age 8 

Oliva is a happy 8-year-old girl. She loves being around people, listening to music and dancing. Despite all her challenges, she can be very stubborn to achieve what she wants! She recently started communicating with her eyes, showing her desire to connect with others. 

Spain

Claudia, age 7 

United States

Alexa, age 13 

Alexa loves to chew on anything and everything. She's my social butterfly and loves to be outside. This little lady had more than her fair share of hospitalizations this year, but she's a rockstar! Alexa is Holly's younger sister. 

Alice, age 7 

Alice loves a good laugh and will chuckle at people doing silly things or making funny sounds, so you'll often find her belly laughing at her younger brother or at a TV show.  She currently enjoys watching Peppa Pig, Lucas the Spider, and Cory Carson. She loves to eat fries, mac n cheese, and ice cream.

Blakely, age 4

Grant, age 2 months
Grant was welcomed this year by his family, and he's so loved! His older sister, Hazel, also has PIGN-CDG. 

Hayden, age 5
Hayden is a happy, laidback kiddo who loves music, being with people and spending time outside. The higher a swing can go or the faster a stroller ride or spin, the happier this little daredevil is. He loves riding the bus to school and being with his classmates. His newest favorite thing is holding hands, which is a skill he is quickly mastering anytime there is a hand, arm or finger to grab within his reach! 

Hazel, age 5

Hazel is a happy energetic girl. She’s in love with music and dancing. She is such a people person even if they are new friends! She loves everyone, especially her new baby brother Grant who also has PIGN-CDG.

Holly, angel at age 2

Holly had the sweetest personality, always ready to snuggle. She loved life and her family so much. Holly was a fighter who passed away when she was 2 years, 4 months. 

Julia, age 9

Julia is a smiling, joyful child. She loves Peppa Pig and horseback riding. Julia works hard for all her skills and achievements. She is well admired and loved by family. 

Kalani, angel at age 16 months

Konrad, age 7
Konrad's spirit is truly inspiring. He is always happy, with a smile that lights up every room he enters. He loves being around people and connects with others in his own warm and joyful way. Everyone at school adores him and is drawn to his kindness and positive energy. One of his favorite things is eating, and he approaches it with the same excitement and happiness he brings to everything in life. 

Lennon, age 12

Lennon is a huge sports fan and loves attending games and events. His older brother Rego also has PIGN-CDG.

Levi, age 5

Levi loves being outdoors.  He loves boats and fishing, trucks, chainsaws, balls, and blocks. Levi enjoys music and dancing as well.

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!

Nicholas, age 9

Rego, age 14

Rego is a sports-loving dude, just like his younger brother Lennon. Both brothers are embraced by their school and integrate into shop and cooking classes. 

Ryan, age 21, and Zach, age 24

Zach and Ryan enjoy traveling and boating. Zach attends an adult day program and enjoys participating in tae kwon do, karaoke, and the theater program. In August, Ryan will start his final semester at the public school’s he’s attended since kindergarten! He enjoys doing “paperwork” and tying things up with ropes. 

Sammie, age 18

Sammie is a determined, joyful and social teenager. She loves spending time with her family and friends, shopping, playing with her dogs and listening to music. Her favorites are AJR, Taylor Swift and Ed Sheeran. 

Sanjeet, angel at age 7 months

Sebastian, age 5

Sebastian loves water, animals and nature. He also loves to play with all types of strings, and his favorite instrument is the guitar!

Teddy, age 12

Teddy is a happy, social boy who loves to be around people - he literally jumps for joy when he sees his favorite people! Teddy makes friends easily with his smile and outgoing personality ... and lack of personal space and boundaries. Teddy's loves include trains, boats, buses, tractors and playgrounds. This winter he started downhill skiing lessons. He is doing amazing and can't wait until he graduates to the chair lift!

Vivien, age 17 

Vivien loves toys that make music, Barney, and hanging out with her new niece.

Zayir, age 15 months

Zayir  is such a sweet baby boy and loves to cuddle so much. He loves any toys with lights!