The diagnostic odyssey, a peroxysomal biogenesis desorder history

By bianca, Peroxisome biogenesis disorder, Canada, February 12, 2019

Our family

Hello! We are a family from Quebec, and we are happy to introduce our beautiful family through PBD Canada. My name is Bianca and I am the proud mother of three beautiful children, two of which have received a diagnosis of Peroxisome biogenesis disorder. This diagnosis was given due to a genetic mutation of the PEX 16 gene.

When we received this diagnosis we were told that every little soldier living with this disease will write their own story by trying to fight the daily battles that their bodies are experiencing.  Through our story we hope you will see what life is like when faced with a rare disease.

Our first child arrived in 2005. Zachary, a healthy and charming boy of 12 years old now has been an incredible brother to his two PBD siblings. While this disease has spared him, he grew up well before his time, to support his brother and sister in all the activities of life.  Through all the appointments related to the condition of his brother and sister, he has had to understand and adjust to the fact that mom and dad do not have as much time for him as they would like.  Often Zachary is himself a superhero as he helps his family with the daily struggles and ups and downs of this disease.  He always has this big smile for us and reminds us that life also has beautiful things to offer us.

In 2007 we welcomed Jeremy into our family. He was an easy pregnancy, an easy delivery and overall a smiling and easy baby.  He walked later than others, around 16 months, which we thought was nothing to really worry about.  We then noticed he was clumsy, he would fall over and was rather slow, but we said it was his temperament. Then, one day around his first year his right foot began to enter inward. The following summer he would have difficulty climbing the stairs, was unable to run, and began to fall... all the time.  Our family doctor quickly referred us to pediatrics, the pediatrician was a neurologist. Many tests followed that appointment but were unable to find anything.  In the beginning they thought they had missed some cerebral palsy.

That year was difficult. Jeremy was getting less and less mobile, he was unable to get in the car without help, the bus driver helped him to climb the last step of the bus on his knees, his hands started to shake more when he ate and wrote, and he became unable to restrain himself to go to the toilet.  I watched my son deteriorate, helpless, without understanding what was going on. No parent should live like this. 

While we faced the unknown with Jeremy our little princess was born in 2012. Éliane, struggled to take her first steps, she was uncoordinated, hypotonic, and had no balance. During a visit to the hospital for her brother, a doctor came to see me and asked if she could examine my daughter.  After the exam, she looked at me and said; “Ma'am, I don't know what's going on but your daughter doesn't walk like a child her age should, we're going to get her to see a neurologist''. In that moment, for a second time, my world began collapsing.

In retrospect, it should not have surprised me; Éliane was a difficult baby who cried all the time.  She was only doing two things, crying and sleeping.  At the bottom of my mom's heart, I knew something was wrong. 

In October of 2017, three years later, we had the chance to make a sequencing of the genes of our children. Through this process we learned that both our children had a rare disease called PBD. When we were taught that our children were suffering from a neuro-degenerative disease, our world stopped turning the way it used to.

I remember entering in the hospital to receive the diagnosis and exiting completely changed. What was I going to tell my children; my son who wants to become a teacher of physical education and my daughter who dreams of skating? I promised them that there was always a solution to everything, that if we wanted, we could.  Do I have the right to break their dreams, already, at that age?  Even more, am I going to lose my children?  My naivety may have remained in this hospital office in October 2017, but my confidence in life remained with me. 

When we are told that there is nothing to be done to heal our children, and that we can only help them to feel comfortable, what can we do? We can invest in research because it is our hope for a future for our children.  When funding does not come in for research, we find people who are like us and create a hopeful future together.

We are stronger when we work together, when we support one another, share our stories and when don’t give up. I think we can move mountains through action. I hope that our PBD Canada stories will touch your heart and that you will answer the call to help us to ensure that Peroxisome biogenesis disorder becomes a treatable disease.

Bianca, mother of Jérémy & Éliane

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