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!
|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.|
|Bri brings joy to those she meets.|
|Zach loves horse therapy and has made so much progress with it.|
|Jarne loves food and helping with meals.|
|Isabel, with her sweet smile, is the oldest person with CDG-PIGN in our group.|
|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.
PolandEmily, 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!|
|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 a special girl who lights up life for her family.|
QatarOlivia 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.|
|One of Jacksynn's favorite things is rollercoasters!|
|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.|
"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 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.)
LouisianaBrooklyn 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 was a beautiful little girl.|
|Alexa works hard to keep up with her big sister and younger brother.|
|Holly was a sweet soul who faced many medical challenges.|
MassachusettsNolan 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.|
|You'd be hard pressed to find a bigger sports fan than Rego!|
I cannot wait to see what the future holds for Rego and Lennon!!"
|Such joy in Maddie's smile!|
|Sanjeet is dearly missed and fondly remembered by his family and friends.|
|Julia's name is understandably Joyful Julia.|
TexasDemi 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.|
WisconsinLast 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.|