The story of LIDIA
My name is Lidia, my husband’s name is Adrien. We are the parents of three beautiful and wonderful boys. And we are here to help them tell their story about how to live a full life and enjoy life when being affected by a terminal rare disease. How to live and survive with their disabilities.
I (mom) am the carrier for this disease. I am also the carrier for the Chromosome 15 Duplication.
The three boys are nonverbal, have Global Development Delay, Autism and Seizures. 6-year-old Nickolas, 5-year-old Leonid and 1 year old Terrance.
And this is their story. They communicate with us and we are here to help them get their story out. We know how they are and how to communicate to them and with them. We hope that their story would help those families out there who are facing this hard diagnosis and to let you know that you are not alone.
Nickolas loves Mickey Mouse Clubhouse. Has been fascinated with Mickey since he was 4 months old. The only thing that keeps him calm on rough days. Mickey Mouse has been coming to celebrate birthdays for the last 4 years. Nickolas loves books especially the ones that have flaps. He enjoys playing with balls (rolls, throws). Any musical instrument is a good toy to him. He enjoys music, Uptown Funk is one of his favourites, mostly just country and pop. Nickolas is nonverbal, has been going through physio, occupational and speech therapy since he was 3 years old at OCTC Cornwall and has been involved with CHEO in Ottawa. Since Nickolas started school at the age of 4 he has been involved with the physio and occupational through there. Still receives services with SD&G Developmental Services in Cornwall Ontario. Nickolas has been diagnosed as Autistic last year (2016), has Epileptic seizures, has duplication of chromosome 15, has underdeveloped optic nerve, and has been diagnosed on June 5th, 2017 with this new rare disease NBIA-BPAN-WDR45. He just learned to walk on his own 2 years ago. Still needs help with feeding and clothing, is going through potty training. Has been helping mom out with folding laundry for the last 3 months, hands them to me and I fold.
Leonid loves Bob the Builder. Has been watching and playing with Bob since he was born. Enjoys playing with balls (rolling, throwing) and anything that dangles. He enjoys books with flaps. Loves music that has a hard beat to it. Enrique and Pitbull is his favourite. Loves to dance, is in Ballerina Dreams at the Powell School of Dance in Cornwall Ontario. Leonid babbles and learned how to say “daddy” about 3 months ago. Leonid has been going through physio, speech and occupational therapy at OCTC in Cornwall and is involved with CHEO in Ottawa. Since he started attending school his therapies have been moved to the school and through the school. Still receives services through SD&G Developmental Services in Cornwall Ontario. Leonid is just learning to walk but he does have a walker to help. Still needs help with feeding and clothing. Has been helping mom out with putting clothing in the washing machine for the last month I hand the clothing to him and he throws it in the wash. Enjoys to see how the water flows and how the clothes turn. Leonid is nonverbal, has been diagnosed with Epileptic seizures, has febrile seizures, has duplication of chromosome 15, underdeveloped optic nerve, and has been diagnosed on July 27, 2017 with this new rare disease NBIA-BPAN-WDR45.
Terrance loves Mickey Mouse, enjoys Bob the Builder and likes Paw Patrol. He just learned to fully crawl at 20 months old. But still does not walk or stand on his own. Terrance knows how to say “dadda” but mostly just babbles and makes noise. He taught Leonid how to say “dadda”. He does like to use fork for feeding himself on occasion. Most of the time we still have to feed him and or finger foods like his brothers. We thought that the seizures would pass him but we were wrong. He had his first seizure at daycare August 2017. We hope that it could just be a fluke. He does have EEG coming up on the 30th of August 2017. Test results show that he has seizures as well and is on medication Valporic Acid like his brothers. Terrance has been diagnosed with the same disease as his older brothers, NBIA-BPAN-WDR45 on July 27 2017. Most likely he also has the duplication of chromosome 15.