What Does CDG-PIGN Look Like?

A few years ago, I shared The Smiling Faces of PIGN, featuring the other families we knew who had the diagnosis of CDG-PIGN. In the past two years, we've added to our wonderful collection of families. We've been joined by more families in the United States, as well as Belgium and the Netherlands. In fact, as I was drafting this post, a mom from Qatar joined our group. (It's incredible how the Internet can connect us throughout the world.) With World CDG Awareness Day coming up on May 16, I wanted to introduce you to some other amazing children.

Australia

Brianna and Zach are sister and brother from Australia, who also have another brother who is unaffected. These two are still the happy smiley kids that I introduced to you in the The Smiling Faces of PIGN. Brianna is now 15, and Zach is 10.

Miss Brianna is all smile.

Zach is extremely proud of his school citizenship award.

Poland

Emily, or Emi, is one of the children who you met in the The Smiling Faces of PIGN. Emily turns 7 this July. After several years of searching for a diagnosis, Emily was diagnosed with CDG - PIGN. It was scary for her family because her doctor said she was the third family in the world. After a few months of searching with the help of doctors from around the world, her mom connected with another family and started our incredibly awesome Facebook group that's connected all of us. As her mom said, "It is wonderful to cooperate with such great people." Emily loves different voices, especially those of children and Elmo from Sesame Street. She loves bare feet and hates wearing socks and tights. Despite the challenges she faces, she is a joyful child.

Emi loves to be barefoot!

United States

Arizona

Mateus lives in Arizona, but his family is originally from Brazil. Mateus just turned 8 this April. He is a fun and sweet boy who loves going to school and swimming. He has recently learned to point, and now has been practicing on sitting up independently, which is pretty amazing considering all his diagnoses. He fights his CDG-PIGN, Mitochondrial Disorder, CP and Epilepsy every day, along with all their complications, all with a smile on his face. Mateus couldn't make his family more proud!

Mateus has the most wonderful smile!

Colorado

Brenden is a sweet 5-year-old boy from Pueblo, Colorado. He loves tackling his brothers, daddy and puppy. He loves jumping wherever and whenever. Also, if anything has wheels, Brenden is a fan!

Brenden is always on the move and nearly always smiling!

Florida

Vivian is a 9-year-old girl who spreads joy wherever she goes. She lives with her mom and dad just outside Orlando, and she has an older sister is grown. In addition to having a variant on her PIGN, 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 the goofiness of others. She is extremely affectionate and loves being held. 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.

That smile! Those pigtails! Vivian is adorable!

Zach, age 16, and Ryan, age 13, were diagnosed with a variation of CDG-PIGN in December 2016. These brothers had previously underwent numerous tests, with all 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 intelligible than Ryan, but make no mistake, Ryan gets his point across clearly.

Ryan ordered his own drinks (non-alcoholic of course) on a recent cruise trip.

"We try to give the boys as many experiences as possible and love to travel with them," says their mom Kristen. "Their joy is contagious, and 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."

Zach showed no fear, and excellent balance, conquering this high ropes course!

"Pretty soon," she continued, "we will have to start making decisions about what adulthood opportunities they will have. But no matter what, we know they have value and will contribute to society in a way that is as unique as they are."

Illinois

Aniyah is the happiest girl with a beautiful smile. This 4-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.

How can you not smile when you see Aniyah?

Samantha is another familiar face from The Smiling Faces of PIGN. Sammie lives with her family in Arlington Heights, a suburb northwest of Chicago. She is 11 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 to make others laugh. She adores her brothers (Matthew, 14, and Benjamin, 13), 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 6 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.

Maryland

Alexa is a sweet little 5-year-old girl who was also introduced in The Smiling Faces of PIGN, along with her sister Holly who passed away from CDG-PIGN. In the past two years, Alexa has made significant improvements in therapy, rolling from her back to her belly without getting her arm stuck, which is huge for her. She's working on sitting up with assistance and getting better control of her head. She does aquatic therapy and is a fish in the water, moving her arms and legs to propel herself. Alexa had a VNS implant this past year, which is a pacemaker-like device that is inserted into the chest wall to help control seizures. Alexa has been fortunate to have the VNS significantly reduce the amount and severity of her seizures. 

Our family had the opportunity to meet Alexa and her family this winter.

New York

Rego, 6, and Lennon, 4, are brothers who live with their parents and aunt in a little town in upstate New York. Seizures, delays and plenty of questions led to a diagnosis in March 2015. Their mom details their journey in her blog: www.queenofsilverlinings.wordpress.com

In the words of Jillian:

Rego and Lennon have far exceeded what was ever expected of them. They make slow progress ... at their own pace, but progress just the same. Rego is more than half way through kindergarten in a public school. He's in a small classroom with a 1:1 aide. He receives adaptive gym daily, OT, PT and speech. He just started to use an iPad with Proloquo2go app to communicate, and it's amazing so far! He is happy and social. He loves school and making friends. He loves sports and music. The Yankees are his favorite team, and he could probably ump a MLB game. He is sweet and sensitive, a friend to all.

Rego has been rocking kindergarten, learning to write his name!

Lennon attends a half-day program at an integrated preschool. He gets OT, PT and speech. He loves to learn all that he can. He likes to do it all, and do it by himself. He has all the confidence and none of the fear. He's the wild child, loose cannon and lovingly, my "arch nemesis." He is very busy, but he'll slow down occasionally for a hand hold or snuggle. He loves to get a good laugh out of people and has the sweetest dance moves and singing voice.

They work hard and steal the hearts of most everyone they meet. I'm beyond lucky and grateful to be their mom and travel this path with them.

Lennon is his mom's sidekick and arch nemesis. 

Oklahoma

Maddison lives in Tiawah, is 5 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 chewelry are designed for that.) She has really struggled with seizures and urinary issues but recently had a VNS and bladder surgery to hopefully turn that around. Maddie loves people and makes everyone around her smile as well. 

Maddison was adopted when she was 3, but she was in and out of our home before her adoption. Her seizures have progressed with age. Maddie is non-verbal and non-ambulatory, but she is learning to use her wheelchair. Maddison is a blessing to everyone she meets. 

Maddie is full of joy!

Pennsylvania

Julia turns 2 this July. She was diagnosed with hypotonia at 6 weeks, began having seizures at 4 months, and her family received her PIGN diagnosis this past January. Julie can roll and laugh and gives a mean squeeze when hugging! She is learning to pull pegs and drop them in a bucket as part of her therapy and loves being read books. She has a half brother and lots of cousins and family who adore her to the moon and back. Her family's nickname for her is Joyful Julia.

Her nickname is Joyful Julia!

Wisconsin

Last but not least is Teddy. Teddy will be 5 this July. In the past two years, Teddy has accomplished so much as well as scared the ever-living daylights out of us with wicked seizures after a long seizure-free period. Teddy absolutely loves his half-day early kindergarten program, including the bus rides.He's made tremendous progress in school, including making a "best friend," who's been to our house several times for play dates. He's mastering his adapted tricycle, except for steering, which he deems optional. He's learned to point to things he wants, including Culvers when we drive by the restaurant. He's working to learn his "talker" and continues to enjoy horse therapy, as well as speech, OT and PT. He's learned to walk, run and jump, although his coordination often resembles a bull in a china shop. His favorite things include his older brother AJ, who is 6, shoes and anything else with laces, buckles, vehicles and being outside.

This cutie spent a week at NIH to participate in a study on CDGs.