Congenital Disorders of Glycosylation (CDG) Community

Learn how others live with Congenital Disorders of Glycosylation (CDG) and share your story

The story about Sergei

The story about Sergei

by schestakova1985 published 24 days ago

Here is our medical history. My son Sergei was born on 20.10.2011 with a weight of 1960 and a height of 48 at 34 weeks by caesarean section because of poor indications of placental blood flow. During the ultrasound a stop in development at week 28 was diagnosed. He was born with hypotrophy of the 2nd level, hypoxia of the nervous system. Two weeks later we had intestinal enterocolitis, antibiot...

Viola

by Cossi74 published 5 months ago

The Brief story of Viola Viola was born in Rome on 09/02/2014, her weight was 3,800 kg and apparently was a very healthy child. She is the third child, after two boys, 3 and 6 years older than her.
The first months Viola slept a lot and cried a little, we thought she was a very quiet child until the epileptic crisis started around the fourth month of her life. From that moment numerous hospita...

Our Erik

Our Erik

by alexisheiselman published 8 months ago

Our son's CDG story to date. Our sweet Erik was born a 'healthy' baby on 11-28-2012. The pregnancy and birth were both normal and Erik's first few months of life seemed pretty 'standard'. Around 3-4 months, Erik began to have ocular motor anomalies. His eyes would float up and shutter down. This concerned us and our pediatrician enough to consult a pediatric ophtha...

Introduction

by Jilba31 published 9 months ago

I am a mom to two little boys Rego, age 4, and Lennon, age 2. They have been diagnosed with a PIGN-related disorder. They both have seizures, that are currently under control with the help of daily medicine. They have developmental delays and a vertical nystagmus as well. Rego and Lennon are amazing little boys. Everyday is a new adventure with out own small miracles happening. They are both ma...

Little blessing

Little blessing

by love4lucy published 9 months ago

Lucy is 10 months old she has CDG 1A. Around 5 months I started wondering why Lucy wasn't reaching typical baby milestones. Other than ear infections she had been healthy so I chalked it up to her small size. At her 6 month check up I asked her peditrician if there was any reason to be concerned about her lack of progress . She advised we have an MRI. The results showed cerebellar atrophy ...

San Diego Lab Helps Families Dealing With CDG

by KPBS News published about 1 year ago


Sean and Lauren have a rare subtype of CDG called ALG3-CDG and are the 15th and 16th people known in the world to have this mutation. 

Philip

Philip

by Chicco published about 1 year ago

We are Davide and Cinzia, we got married in 1999 and in 2003 we had a wonderful baby which we named Matteo. He was very healthy. In 2011, we had a second wonderful baby called Filippo, unfortunately, we were not so lucky like with his brother because since when he was born he was diagnosed with CDG syndrome, type 1A.

He is treated at the San Gerardo Hospital of Monza. The Doctors and the He...

"Princess" Lili's Story

"Princess" Lili's Story

by CDGportugal published about 1 year ago

Lili is 30 years old and she was diagnosed with CDG type Ia when she was 16 years old My mother had a normal pregnancy, although since the first months she could observe some differences in my sister’s development compared to mine. She had many difficulties to eat and problems to move her arms. When she became five months she started to smile, when 7 months she started expressing some sounds, o...