Tuesday, May 14, 2019

The Smiling Faces of CDG-PIGN Are Growing!

One of the most popular posts on my blog is when I introduced our small community of children with CDG-PIGN from across the world. I shared an update again last year with some new faces in the mix. Our children continue to grow. They are growing older, which is truly a blessing given the bleak prognosis in the initial medical research on CDG-PIGN. Our children are also growing in number, with more families added every month it seems to our group.

It is my honor and pleasure to share with you snapshots of our amazing children and just a bit about each of these incredible children. Each child is wonderfully unique, yet there are so many similarities among our children. You'll see that in their joy, their smiles and their determination.

So, since our group is so much larger than 3 years ago, settle in to learn about our amazing children. Grab a cup of coffee, a mug of tea or a nice cold beverage, depending on which side of the world you're on, and enjoy!


Andrew and Scott are brothers from Australia. Scott passed away in 1996 when he was 15 from pneumonia, and Andrew was 5 years old when he died from pneumonia in 1993. Their parents had banked their DNA, and in 2016 they received the diagnosis of CDG-PIGN. Their family loved and cherished their boys. After all these years, the diagnosis gave their family clear answers. 

Scott may have been non-verbal, but he communicated with his eyes. 
Andrew lived a good life, thanks to his family's love, care and advocacy.
Brianna and Zach are sister and brother from Australia, who also have another brother who is unaffected. These children are the smiling, happy kids you met in the previous posts. Brianna is now 16, and Zach just turned 11.

Bri brings joy to those she meets.

Zach loves horse therapy and has made so much progress with it.


Jarne lives in Belgium and is 14 years old. He has a sister, Julie, who is 12 years old and a brother, Joppe, who is almost 3 years old. Jarne always has fun, and he's a fan of food. He enjoys watching the show Fireman Sam. Jarne has lots of toys. He likes to play with LEGOs, and he enjoys making towers. Jarne enjoys doing puzzles, and he can do a 36-piece puzzle. He goes to a youth program every 2 weeks. Jarne also really enjoys swimming. 

Jarne loves food and helping with meals. 


Isabel lives with her parents in Prince Edward Island. She has two unaffected older brothers, Erich and Philip, whom she adores, and the feeling is mutual. Isabel received her CDG-PIGN (MCAHSS1) diagnosis in January 2019, and it was a long wait for her family. Isabel turned 28 last November. She has been through many medical crises throughout her life, especially with prolonged bouts of life-threatening seizure activity, metabolic episodes, surgeries and respiratory pneumonia. 

In the words of her mom, "Isabel doesn't ever let ill health keep her down. She always wakes up with a smile, anticipating any adventures the day may bring. Isabel loves to have books read to her, to play games and do puzzles, to make art and to make music. She has a zeal for shopping, and her preferred purchases are Beanies, books, games and balloons. Isabel also takes her help with the daily routines around the house very seriously. If she can't do it, she makes sure her parents know what should happen next, and also that it happens in good time. She is a good supervisor!

Each of Isabel's self-appointed tasks is accomplished with great enthusiasm, and to the very best of her abilities. Her family and friends are so proud of her. Her outlook is fun and humorous, and Isabel's approach to life is contagious. Her joy makes others happy, too. She shows everyone who knows her how to appreciate all those things that make life full and rich. Isabel is a blessing."

Isabel, with her sweet smile, is the oldest person with CDG-PIGN in our group.


Chloe is 4 months old, and she was recently diagnosed. She has an older sister, Alice, who is 2 and a half. When she was born, Chloe was transferred to the neonatal department because they noticed several issues: hypotonia, tremors, her left foot turning in and her eyes looking up. She was in the neonatal ward for 15 days with a lot of testing for metabolic diseases, blood tests for genetic research, encephalogram, ultrasounds of the stomach and liver and an MRI of her brain. After 15 days, all the tests were negative except for the genetic results. Those results took several months. 

Chloe came home after 15 days in the hospital, and she cried day and night for a month. Then the nights got better, and she cries less. She needs constant reassurance, being carried with a pacifier held in her mouth because she cannot hold it herself. Chloe had her first seizures when she was 3 months old, right around the same time her parents learned she has CDG-PIGN. 

It's only been a month since Chloe's diagnosis, and her parents are still in shock from the news. Her mom said, "We have our little Alice, who makes us smile (except when she is not in the mood.) The main thing is to hold it together with your spouse, and we have a lot of support from family and friends. That is very important. The future is a big question mark." 

Adorable Chloe lives with her parents and big sister in France. 


Anna is 19 months old and lives with her parents in Munich. Her mom describes her as a very happy baby. She likes to play, destroy newspapers and is an "inquisitive little person." She is still working hard to learn how to sit, crawl and walk. She really loves her daddy and giggles whenever she sees him. Anna still prefers nursing more than normal food. Her mom said, "She loves to party from 3:30 a.m. to 6 a.m." She has seizures but hasn't had any after starting Keppra combined with vitamin B6.

Anna's smile is absolutely captivating!


Emily, or Emi, is one of the children you met in the previous posts. Emi turns 8 this July. She was one of the first in our group to be diagnosed with CDG-PIGN, and her mom is a tremendous advocate and resource. She's the one who started our Facebook group that connects us all. Emi loves children and Elmo. She hates wearing socks and loves bare feet. Despite her challenges, she is a joyful child. Emi is now a big sister to her brother, who is unaffected by CDG-PIGN.

Emi loves her feet to be free!
Kaja was born in Poland on a beautiful day of December 12, 2012. In the opinion of her doctors, she was born as a healthy child. However, her parents noticed differences as she grew older. In 2017, after years of searching for answers, her family received a PIGN diagnosis. Kaja has an instinctive reflex on the auditory stimulus, but at the moment the attacks are stabilized. Her mom said, "Kaja is our sun. We are very connected." She loves playing with other children, playing in water and playing with modeling clay. Kaja does not like having her beautiful hair combed or getting dressed. Aside from that, Kaja is a very happy girl who is always smiling. She loves music. Although she doesn't speak, she understands many commands.

Sweet Kaja loves to cuddle and snuggle. 

Kinga is 11 years old and is also from Poland. Kinga has a PIGN genetic mutation. She is a very cheerful girl. Kinga cannot talk, but she can walk with assistance. Kinga loves to take baths, play with other children and jump on the trampoline. Her biggest challenge is drug-resistant epilepsy.

Kinga has a sweet smile to go with her sweet personality.
Zuzanna is another sweet girl from Poland. She was recently diagnosed and is 17 months old. She began with epileptic seizures when she was 2 months old. She started on a ketogenic diet, which she still is on today to control seizures. She likes to play, tickle, cuddle and smile. She can roll onto her stomach and back. She is getting stronger at sitting, especially with her back supported. Zuzanna has a lot of therapy and tries very hard at all her exercises. Her mom said, "Zuzanna is a miracle. We are happy that we have such a wonderful daughter. She's our whole life."

Zuzanna is a special girl who lights up life for her family.
Sidenote: I recognize that getting this diagnosis is life changing, but I was so happy when Zuzanna and another little girl from Poland joined our group this spring. I know that Emi's mom will be a tremendous resource for them, and I'm so happy they can all learn from each other in their first language. 


Olivia lives in Qatar with her family, but they are originally from Lebanon. Oliva will turn 2 in October, and she was diagnosed when she was 6 months old. Olivia loves having other kids talk and play with her. She will soon be a big sister when her little brother arrives.

Olivia will soon be loving on her baby brother.

United States


Jacksynn is one of the relatively few children included in the original blog post. In the past few years, she's grown older and even more adorable, if possible. Jacksynn is now 10 years old. She loves her dog, Beau. She also loves rolling around playing, giving kisses, listening to music and dancing. Jacksynn also loves the thrill of rollercoasters! Jacksynn lives in Merced with her older brother Anthony, who's 14, and her sister Taylor, who's 16. Her mom describes Jacksynn as "healthy, happy and living her best life."

One of Jacksynn's favorite things is rollercoasters!


Brenden is 6 years old and lives in Pueblo. He loves wrestling, wheels of any kind and Lazer lights crack him up. He loves his family and his puppies. "Brenden is always so happy," says his mom. "His smile will melt your heart."

Brenden loves lights and action.


Nicholas was born in June 2016, so he's nearly 3 years old. He was diagnosed by a geneticist with PIGN in 2017 after having his first seizures. Nicholas is currently in physical and occupational therapy and getting stronger every day. His parents are working hard with him to learn to sit unsupported, stand and eventually take his first steps. "Nicholas is extremely brave, feisty, loves his family, very smart, loves being outdoors and learning about nature," said his mom. "He brings joy and so much love to our lives. Our son is our pride and joy!"

Nicholas has such a sweet smile!

Vivien is another child from Florida who is now 10 years old. She spreads joy wherever she goes. She lives with her mom and dad just outside Orlando, and she has an older sister who's already an adult. In addition to having a variant on her PIGN gene, she is partially missing her corpus callosum. She has a lot of challenges, particularly seizures when ill. She is non-verbal and has challenges with her gross and fine motor skills. However, that doesn't stop her from having a good time, being silly and laughing at her goofiness with others. She is extremely affectionate and loves being held (and carried). She also loves Barney and her swing set when she's feeling well enough. You won't see her adorable smile, though, if you're brushing her hair or teeth, making her sit still or trying to keep shoes on her feet.

Vivien loves to be outside!

The last of our children from Florida are Ryan and Zach, who are brothers. Zach is now 17 and about to graduate high school. Ryan is 14, and both were diagnosed with a variation of CDG-PIGN in December 2016. These brothers had previously underwent numerous tests, all with results coming back "normal." Both boys are able to compensate for their gross motor hypotonia but struggle with speech and fine motor skills. Zach is more understandable than Ryan, but make no mistake, Ryan gets his point across clearly.
Ryan and Zach are huge fans of the Incredibles.
"We try to give the boys as many experiences as possible and love to travel with them," says their mom. Zach went on a mission trip this past year out of the country, and both boys are planning to hike part of the Appalachian Trail on a camping trip this summer.

"Their joy is contagious," says their mom. "While I often struggle with the things they can't do, my boys don't seem to know their own limits. They cruise through life with a positive attitude and a smile on their face."


Aniyah is the happiest girl with a beautiful smile. This 5-year-old girl has two older siblings who are not affected with CDG-PIGN. (CDG-PIGN is a genetic condition, so there's a 25 percent chance of a child having the diagnosis if both parents are carriers of the recessive genetic mutations. There's far less than a 1 percent chance of two people having the recessive mutations, which is why CDG-PIGN is so rare.) Although Aniyah cannot talk, she makes sure her voice is heard.

Aniyah is a sweet girl with a sweet smile. 

Samantha is another familiar face from previous years. Sammie lives with her family in Arlington Heights, a suburb northwest of Chicago. She is 12 years old. Sammie is a joyful, determined, strong-willed and social girl. She loves life and enjoys familiar experiences. She loves playing sports, music, dancing, face-paint and going to the zoo. She has a great sense of humor and loves to laugh and make others laugh. She adores her brothers (Matthew, 15, and Benjamin, 14), family, friends, teachers, therapists and doctors. She tries to make a connection with everyone she encounters. For a child who is essentially nonverbal, she does an unbelievable job of getting her point across. She has developed her own signs for many activities, places and people. She also uses a "talker" to help her communicate.

Sammie had her first seizure when she was 3 months old and still struggles with seizure control. She has been on the ketogenic diet for 7 years, and it has helped her more than any other medication. She attends a public school but is in a self-contained class. She absolutely loves school, especially when there is a field trip! Sammie has an abundance of joy and shares it with everyone she meets. (I can vouch for this because we've been fortunate enough to meet Sammie twice.)

Sammie adores her brothers, and she loves her adapted dance class. 


Brooklyn lives with her parents in Abita Springs. She was born at 30 weeks and had quite a rough start to life. Even as a baby, she was described as a fighter, says her mom. When Brooklyn was 7, she was diagnosed with a mutation in her PIGN gene. She is now 12 and a happy smiling girl who enjoys living and experiencing life. Brooklyn continues to surprise her parents every day.

Brooklyn has a smile that brightens peoples' days.


Kalani lived in Elkridge, Maryland. Kalani passed away in 2016 when she was 16 months old. Her mom described her as a soldier. 

Kalani was a beautiful little girl. 
Holly and Alexa are sisters from near Baltimore, Maryland. Alexa just turned 6 and is doing pretty well. She is feisty and full of spunk and personality.  Alexa had a VNS implant last year, which is a pacemaker-like device that is inserted into the chest wall to help control seizures. For Alexa, the VNS has helped her tremendously. While she still has seizures, they've decreased substantially. Her goal is to sit unassisted for a minute or two over the next year. She loves being outside (swinging, playing and swimming) for any reason and loves to cause trouble. 

Alexa works hard to keep up with her big sister and younger brother. 
Holly passed away when she was 2 years 4 months, but she would be 9 this year. She loved to snuggle with her mom. She always had a smile to share, as long as her mom was nearby. 

Holly was a sweet soul who faced many medical challenges. 


Nolan lives in Watertown with his parents and two younger brothers. He is non-verbal, non-ambulatory, has a seizure disorder and visual impairment, utilizes a g-j tube for nourishment and a bi-pap/oxygen to support his breathing at night.

Nolan turned 10 years old this April. He is such a happy kid. He loves music, lights and "off-roading" in his wheelchair. (The bumpier the better!) He adores his little brothers, who are 9 and 6. He laughs at all the havoc they wreck everywhere they go. His favorite movie is The Greatest Showman. With all the music and flashy colors, he loses his mind when he watches it. He loves school, and the teachers and students all love him. He is lovingly referred to as "the mayor" at school because he loves cruising the halls saying hello to everyone.

Meet Nolan, otherwise known as the Mayor.

New York

These two boys, ages 5 and 7, are the joy of their parents' lives. Their mom, Jillian, shares their journey on her blog (www.queenofsilverlinings.wordpress.com) and shared this:

"Rego and Lennon continue to trek along and progress beyond their parents' dreams. In the past year, the boys have become potty trained. They have acquired new skills at school and home and made new friends. This year they will be playing baseball on a Challenger league.

Rego is close to finishing up first grade in our public school. He is doing well using his iPad and Proloquo2go. Communication is one of our biggest delays, so this is wonderful! He is currently learning a few sight words, has a mastery of colors and is growing a group of friends. He is still sweet and sensitive and a friend to all. Sports are still his favorite, whether it's watching it live or on TV, playing a video game or with his brother and dad in our backyard. 

You'd be hard pressed to find a bigger sports fan than Rego!

Lennon is growing in leaps and bounds, and soon he will be handing down clothes to his older brother. He is soon graduating from the best preschool in the world and in the fall will join Rego in our public school. Lennon is practicing using his Proloquo2go app as well, but his verbal skills improve daily. He is passionate about every aspect of life, his family and friends, food and whatever else comes his way. He loves to watch sports and play along. He is strong willed and wild but so sweet and kind.

I cannot wait to see what the future holds for Rego and Lennon!!"

Lennon is always ready to hug someone who could use a lift. 


Maddison lives in Tiawah, is 6 years old and full of life. She smiles all the time. Her favorite thing is her chewys. (We've noticed many of our children with CDG-PIGN have a strong desire to chew and chomp, so chewys and chewlry are designed for that.) She has really struggled with seizures and urinary issues but had a VNS and bladder surgery last year to hopefully turn that around. Maddie is now strictly tube fed. She loves people and makes everyone around her smile as well. Maddison was adopted when she was 3, but she was in and out of her family's home before her adoption. Her seizures have progressed with age. Maddie is non-verbal and non-ambulatory, but she is learning how to use her wheelchair. She is a blessing to everyone she meets. 

Such joy in Maddie's smile!
Sanjeet was 4 months old when we shared a little about him in our original Smiling Faces of PIGN post. Sanjeet was diagnosed when he was 3 months old. He passed away when he was 7 months old, but his life continues to live on with his family. Sanjeet lived in Oklahoma City with his family, who is Asian Indian. His personality outshined his PIGN mutation. He loved food! If anyone was late feeding him by 5 minutes, he would scream to let the world know. He was very persistent in proving his neurologist wrong when it came to feeding on his own. He was a fighter who loved warm hugs. 

Sanjeet is dearly missed and fondly remembered by his family and friends. 


Julia is going to be 3 in July. This little girl is a ball of sunshine and joy. She may be non-verbal, but she sure says a lot with her energy. Her laughter is loud and on point with jokes. Julia has taught her parents that she has many thoughts and opinions. She is able to make choices and has a strong personality. Currently, she is still working hard on sitting. Julia has many services and continues to make improvements. Her progress might be slow, but it is steady. "We are truly grateful for everything Julia learns to do, whether it is pushing a button or turning a page," says her mom.

Julie fights seizures daily. Her seizures are greatly decreased on the ketogenic diet. Julia is able to eat by mouth and is on a pureed diet. Her liquids are thickened due to aspiration in the past. Her parents are working with their local hospital on getting an augmentation device for communication. 

"We will continue to see what Julia has to teach us," says her mom. "She has already shown us that she is tenacious and fierce. We love our Julia for everything that makes her Julia. We will continue to be grateful to be her parents."

Julia's name is understandably Joyful Julia.


Demi lives in Cleburne with her family. She turns 2 on World CDG Awareness Day. Demi was born with Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 1 (MCAHSS1) because both her parents were carriers of the recessive genetic mutations. Demi started walked around 20 months. She says "Mama" and "Dada." Demi does physical, speech and occupational therapy once a week. She is a happy and pretty healthy little girl who continues to make progress each day.

Demi continues to develop her skills with that sweet smile. 


Last but not least is Teddy. Teddy turns 6 this July. He's managed to avoid seizures for the past year, which is such a blessing. Teddy loves being in kindergarten, although he sometimes is tired by the end of the school day. He has made great progress this school year with his attention, when it's an activity that interests him, as well as his ability to follow simple directions. He's learned to steer his adapted tricycle much better, as is evidenced by him intentionally steering for the ditches because they're more fun than the road. Teddy lives for adventure, whether running with myTEAM Triumph or riding any tractor, golf cart, lawn mower or anything else that drives that he can finagle his way onto. We continue to use his talker, but he is most effective communicating with gestures. He's learned to walk, run and jump, although he was a bull in a china shop for Halloween last year for a reason. His favorite things include his older brother, climbing, shoes, buckles, laces, vehicles and being outside.

A rare picture of Teddy sitting still ... until he climbed back down.

No comments:

Post a Comment