At 18, I never thought in a million years to be pregnant by my 16-year-old boyfriend. But there we were. October 3, 2001 a baby girl, who we named Jersey, was placed in our arms after an emergency c-section and our worlds were changed forever. She weighed 6 lbs., 7oz and had a head full of hair. We may have been young, but we were very proud to have brought such a beautiful, perfect little angel into our world.

Before long, the doctor noticed she wasn’t gaining much weight, she didn’t really cry for food like a ‘normal’ newborn usually would. So, the testing began, and more testing and more testing. Long story short, after having a muscle biopsy, eventually not until the age of 1, she was diagnosed or should I say, Misdiagnosed by Doctors in Quebec City with a disorder called SCAD (short chain acyl-coa Dehydranase Deficiency). Never had we heard of anything as such but, prepared ourselves for a reality we weren’t quite ready to face with being so young. They proceeded to put in a G Tube to help with her diet because she wasn’t gaining the weight she needed to be. Along with that, we had to face the reality that our Baby may never walk, never talk, never develop like all babies should develop. We would never hear her say, I Love You, never run up to us and Kiss us Good Night, Never Hug us tight …. It was a very hard pill to swallow. Why were we being punished? What did we do so badly to have this happen to us? Some one once told us that God only gives Special kids to Special people who can handle things like this but, we were finding that hard to believe.

Fast Forward 2 years, we moved to Gatineau, QC from our home town which is a quiet town on the Lower North Shore of Quebec. No opportunities were available for Jersey, no hospital, just a small clinic so we moved because it was what we felt we had to do for her to get the services she needed. She was followed by Doctors at CHEO, had MRIs to see if there were any changes to her brain, had EEGs, hearing tests, vision tests, all of the above to keep making sure there weren’t any changes to her well-being.

Another 2 and ½ years later, we moved to Didsbury, AB which was situated an hour from Calgary, where she would be followed by the Children’s Hospital there. We met new Doctors who were intrigued by Jersey and wanted to do another muscle biopsy so they could grow the muscle to check for anything that they could because at this point, they felt Jersey didn’t have what she was initially diagnosed with. They felt doctors put a name on it because she had “some” symptoms of SCAD but not all. They were thinking maybe a mitochondrial disease, and maybe if it was a mitochondrial disease that maybe it was one that wasn’t even discovered yet. Throughout another 10 years, Jersey had tests and was checked for Angelman’s, Rhett’s, and a few other disorders but no diagnosis was coming up.

Not until 3 years ago, while pregnant with our second child, did we hear about some new genetic testing from our Genetic Doctor, Dr. Geraghty at CHEO. Jersey, Myself and my Husband went for blood work and before too long received a proper diagnosis of Grin1. Finally, after all those years, we had the diagnosis we longed to get. Although it would change nothing, we were happy that we could do amniocentesis with this pregnancy to see if our baby boy was missing the gene like his sister was … And he wasn’t. Jersey also has another sibling, a little Sister who also tested negative for GRIN1.

Jersey is now an 18-year-old vibrant young woman. Her smile, oh that smile can light up any room, make the worst day into the greatest of days. She follows a pureed diet and eats everything by mouth (but was once fed exclusively by G-tube). She doesn’t talk at all, walk at all, basically relies on us for all daily aspects of life. She Can drink from a Sippy Cup alone and sit on her own as well which were the greatest milestones when they both happened. No seizures, doesn’t sleep well, wheelchair bound, etc. … Life hasn’t been always sunshine and rainbows for our Girl but she has always come out on top. She attends St. Lawrence Secondary School in Cornwall, ON which she absolutely loves. She is a Great Big Sister and I hope one day her brother and Sister will realize how lucky they are to have such an Amazing and Strong Angel in their life who they call “Sis”