Happy World CDG Day!

Happy World CDG Day! 

It's been 10 years since 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!

Spring Break 2026

Vacation in 2018 nearly destroyed us. It (and COVID) led to some pretty big changes in terms of our land and how we vacationed. The last 3 vacations we've taken have included one of our sitters (and my dad for one trip, too) because we learned that more hands make vacations a bit easier. 

This year for spring break, though, we didn't have the option of taking a big along with us. So, we ventured out for a jam-packed road trip with just the 4 of us, heading to the East Coast and taking in as many sights and experiences (and donuts and ice creams) as we could!

The highlights of vacation in terms of sights seen included:

• 3 National Seashores (Cape Lookout (my favorite!), Cape Hatteras & Assateague)
• 1 National Battlefield (Moore's Creek with the slogan of "For King George & Broadswords!")
• 1 National Historic Site (Harriet Tubman Underground Railroad)
• 1 National Memorial (Wright Brothers at Kittyhawk)
• 4 National Parks (Shenandoah, New River Gorge, Congaree & Smokey Mountains)
• 3 hours in Washington D.C. with cherry blossoms everywhere exploring:
• Jefferson Memorial
• Lincoln Memorial
• WWII Memorial
• Korean Memorial
• Vietnam Memorial
• Martin Luther King, Jr. Memorial
• Washington Monument

Our favorite moments were our few hours in Washington, D.C. where we absolutely lucked out with a parking spot to walk with hundreds if not thousands of others in the beauty of the snow white cherry blossoms. AJ has never been to D.C., and we've wanted to take him there for years. While this doesn't replace the desire to spend a couple days there exploring all the museums and truly enjoying all the monuments, memorials and history, it was a wonderful opportunity!

The other highlight for our entire family was our trip to Cape Lookout, as we took a boat out to the island to explore for the day. Dave did a phenomenal job planning vacation and had rented us a side by side to drive around the island. It was the perfect way to get to explore the historic village, all the different beaches and the lighthouses. We laughed (and worried a bit) as we got stuck in the sand twice in the first 1/2 mile, but thankfully those were the only times we were stuck. It was a beautiful day, though windy, so we got to dip our toes in the ocean, search for sea shells and enjoy a picnic in short sleeves and sunshine!

Travel with Teddy is still travel with Teddy. As I've told others, we'll have our moments and challenges here at home, and I'd much rather be seeing, exploring and doing than not. So we had a 2 a.m. bedtime the first night and another night with a midnight bedtime because Teddy insisted on sleeping on the couch. That might not sound like a problem, but Teddy is at risk of falling out of bed and eloping or leaving the hotel room, so we always pair him in bed next to an adult for safety. I gave up that night, though, and blocked the door with a laundry basket and just slept lightly to keep an ear for him. 

We also had to do a lot of valet pickups for Teddy, as transitions were tough. He often refused to leave just about anywhere, but he'd go when the vehicle pulled up. The other challenge in the vehicle, which was a challenge, was aggression toward AJ. Teddy decided after the first couple days that he no longer wanted AJ sitting by him, so he was pushing, kicking and hitting at AJ. 

But, we saw progress with restaurants, even without an extra set of hands. Teddy did really well waiting and eating in the restaurants where we ate, which often isn't the case. We also saw progress with hotel rooms, with very minimal attempts to leave the room and much more willingness to just chill with hotel TV. Even bedtime was easier in the sense that it wasn't such a fight with flailing and crying as much as simply not wanting to sleep.

It really was an amazing trip with tons of fun memories for all of us! Here's pictures of some of the fun.

This occupied Teddy for 30-60 minutes. 

Shenandoah was a wee bit foggy.

Teddy still loves viewfinders. We saw a wild horse through it!

Like most boys, Teddy thought the cannon was cool!

Teddy's version of hiking is sprint and stop. Good thing I'm a runner.

The kid who rarely hugs gave Buc-ee a hug.

This boy loves boats!

4 x 4 exploring of Cape Lookout!

This seashore was a wee bit chilly, so they were cuddling for warmth!

Miracles

We've been busy with life and adventures - more on spring break to come another time. In the moments before bed, I've been revisiting a journal of sorts, little notes left by Dave for me years ago when our boys were little. In those early years, our morning schedules often didn't overlap as I spent hours awake through the night nursing and comforting, so I often slept past the early hours he left for work (before 6 a.m. in those days). Those notes were often functional, relaying notes about laundry and little things, but so often filled with love, compliments and reminders about the blessings of our lives.

It's been special to re-read them, and some of them I leave the page open to linger on a few days. There's so many memories that come back in reading these notes. One recently gave me such pause.

This brought back all the feels. We spent several years trying to conceive and went through fertility testing to get this dismal prognosis. But God had other plans for us, and the medical professionals weren't on target ... or we beat the odds twice in 2 years. Both our boys were, indeed, miracles for us. 

But on the hard days, it's easy to forget how blessed we are with our miracles. There are moments and days where things are so hard that it's next to impossible to find the hope, much less the happiness. And years of hard days add up, and patience can wear thin. When the phases of childhood, the tantrums and behaviors of the terrible 2s don't phase out, when the diapers never end after 14 years, sometimes the joy is hard to find. When the things that are supposed to refill our buckets break our spirits (looking at you, vacation of 2018), it's hard to find your way forward. When the faith you were raised in isn't accessible to your child, it leaves you with guilt not guidance.

While we still have our hard days and hard moments, we've spent years building our way forward and working to find more joy, happiness and faith. We've found a church that welcomes Teddy with open arms and that he literally jumps for joy as we head into the building. We've built a community, extending our family by adding our caregivers as "adopted" children complete with an open invite to family dinner each Tuesday, celebrating birthdays and special occasions all together. We've leaned into respite camp and continue to remind ourselves to be intentional about respite for special times with AJ and with each other. We've bought our land and are building memories and enjoying nature there, in a place that is safe and inclusive for Teddy. 

And, I'm reminding myself through these notes from nearly 13 years ago, that we longed and prayed for babies to call our own. We've been blessed with our miracles, and they'll always be miracles no matter how old they grow. Honestly, Teddy becomes more of a miracle each year given his prognosis at diagnosis. 

I Can't Imagine

This past weekend we had the opportunity to connect with a number of other PIGN families across the world (OK, mostly the US this time, but we had Northern Ireland represented as well). It's always so uplifting to spend time with our community, sharing successes, updates and questions. 

I did shared that in recent weeks I had commented to Dave that I don't think it's a coincidence that 4 of us PIGN moms have been diagnosed with cancer in the past 2 years. I made the comment that these kids are killing us, joking but not completely. And another mom chimed in with her story about her autoimmune disorders that began after her first child with PIGN, echoing that the chronic stress takes a toll on our bodies. After listening to the recording, one of our Italian moms said it so well, "I agree with you that we give life to our children by taking life away from ourselves." 

This community gives us a chance to talk about the blessings, and the challenges, of our lives. Each child with PIGN is writing their own story, so each set of challenges look a bit different. I often hear of the hospitalizations, the failure to thrive and the medical marvels required to keep our more medically fragile children alive and wonder how on earth their parents do it. I see our single parents managing this all on their own and am in awe because even with strong support in each other, Dave and I still struggle. Yet I hear the mom who's lost a child to this disorder and who's nearly lost her other daughter 4 times this year say, "I can't imagine!" when she considers how hard it is to parent Teddy because he's so active, mobile and can get himself into so much trouble. 

Trouble? This kid? All. The. Time.

If you're wondering where I'm going with this, I think it's the realization that each of our journeys is ridiculously, insanely hard. It requires constant giving, constant sacrifice by all members of the family. It requires life looking so much different than we ever thought. It means that the simple things aren't simple. (Heck, trying to stop by a bowling alley to say hi to friends yesterday involved almost barging into a pool game and stealing their balls multiple times (but getting a kind high five in the process) and inviting ourselves to sit down and attempt to steal another woman's newly delivered pizza.) It doesn't matter how much or little speech our children have. It doesn't matter how many seizures they have. It's all hard. One version of hard isn't worse or better than another.

Yet, in the grand scheme of things, we'll always take this hard because it beats the alternative. We know the alternative is not having our children on this planet. We've mourned with those families who've experienced that loss, and we know they'd give anything for one more sleepless night, one more day (even if spent in the hospital) or one more panicked moment of "temporarily misplacing" their child when they elope. 

The things that are normal for our family are not normal for society. But we've built a community and have found wonderful humans in our community who accept us as we are, whether that's for the brief moments we interact or by becoming a part of our tribe. And community helps us handle the things that no one can imagine that are reality.