May 16 is World Congenital Disorders of Glycosylation (CDG) Awareness Day and a Bradford family is hoping to share more information about the rare disease with the community.
Matteo and Laura Baglioni immigrated to Canada from Italy seven years ago and settled on a nice home in Bradford where they could raise a family.
In August 2012, they were blessed with their firstborn child, Cristian and then their daughter Mia in October 2014.
Both children had developmental issues at a very early age. Their grandmother Paola Baglioni noted how they were “floppy” and couldn’t hold their heads up like most other babies could.
They both had low muscle tone, couldn’t crawl and could never sit up on their own. In July 2017, when Cristian was five and Mia was three, they were both diagnosed with CDG (CDG 1A PMM2).
CDG is a group of rare inherited diseases that affect glycosylation, which adds sugar building blocks to proteins.
All parts of the body require glycosylation to function normally, but people with CDG cannot properly add sugar building blocks to proteins in their bodies, which causes a host of health issues for them. There are 19 different types of CDG, that can include a wide range or symptoms.
Some of the most common signs and symptoms of the disease include hypotonia, slow growth, developmental delays, seizures, abnormal bleeding, liver disease, crossed eyes, and changes in the brain that can be seen in brain imaging.
“It was very devastating for both Mom and Dad accepting that not one, but both of their children have been affected with this rare congenital disorder,” explained grandmother Paola. The worst part of the news was knowing there was no cure.
Dealing with the disease has been a challenge for the family.
Cristian has already been operated on twice for his crossed eyes, and only began to walk well after his second birthday, with a lot of difficulty. He began to speak after he turned three, and through speech therapy and physiotherapy the family began to notice some improvement.
Mia started walking at three and half, and to speak at four.
She had tubes put in her ears, which didn’t go well as they had fallen out and doctors were unable to put them back in due to holes in her ear drum. The doctor advised the family that Mia was losing her hearing and therefore needs to go for checkups every six months at Sick Kids Hospital.
At age four, Mia also started to experience seizures. She has been hospitalized for them before and had to be put on special medication.
Mia is very dependent on her mother and relies on her to help her walk, eat and get dressed. She still wears diapers as she has lost the sensation of knowing when she needs to go to the washroom. Currently the family is waiting for an appointment with a urologist.
Paola says Cristian is starting to realize that he is different from other children and often asks his Mom why he has his problems.
Mornings can be a challenge, getting ready for school, and having the kids put on their leg braces.
Mia also has special wrist weights that she wears at school to assist her with tasks like colouring and eating. The school has ordered a tricycle adaptive bike for her, which was set to come in just before the COVID-19 closures. Mia uses a walker at school and home for her safety. Without it she could fall and really hurt herself, which she has already done in the past.
Cristian is also starting to show signs of ADHD, but has not been diagnosed yet.
The children currently attend their therapies and treatments in town and throughout the Greater Toronto Area. They both attend St. Marie of the Incarnation elementary school, who have been supportive and accommodating to their needs.
Despite their challenges, Matteo and Laura do their best to give their children a normal life.
Cristian loves sports. Hockey, basketball and soccer are his favourites. He gets excited when Matteo takes him to Toronto to watch the Raptors and Maple Leafs play. Mia loves animals and one day would love to have her own personal zoo.
“She is a sweet little girl that would do anything. She has so much energy in her and always looking for something to do or someone to play with,” said Paola.
Mia also loves to watch “Ryan’s Toy Review” on YouTube.