The story of Marie-Michele
- Thomas is a little warrior who is 2 years old living with Peroxisome Biogenesis Disorder (PBD), from Saint-Quentin, NB, Canada. Thomas is 1 of 175 childrens living worldwide with PBD.
When Thomas was a baby he cried all the time and almost never slept. It seemed like he was always in pain. I knew that something was wrong.
After several visits to the emergency, Thomas was finally referred to see a pediatrician in another hospital. When the pediatrician saw the blood draw results, he could see that the liver enzymes were 10 times higher than normal in Thomas’s body and also that he was at the bottom of the last growth curve.
We were then transferred by ambulance to the CHUL of Quebec. As soon as we arrived, the Specialists have begun to administer several tests for Thomas. Ultrasound, X-ray, gastroscopy, biopsy, sweating test, MRI, innumerable blood draws, test for the muscles and the nerves, electroencephalogram, visual evoked potentials,etc. , This was, by far, the worst experience of our whole life.
A very long month of hospitalization later, the specialists told us that Thomas has a genetic disease called Zellweger Spectrum Disorder which is a Peroxisomal Biogenesis Disorder, or more precisely, that our precious little baby of 7 months old was going to die within a few months because there is no treatment for this rare disease.
We were devastated. We could not believe what we had to hear. That day, it was like our world was falling apart.
We have finally been put in contact with a fantastic geneticist who is specialized in peroxisomal disease and who lives in Montreal, Qc: Dr. Nancy Elise Braverman. She and her team help us enormously with all the problems which Thomas is facing.
The PBD-ZSD is a genetic disease extremely rare that affects many organs in the body. At this time, our son Thomas lives with neurosensory hearing loss, retinitis pigmentosa, difficulty with fine and gross motor skills, balance disorder, failure to thrive, malabsorption of fat-soluble vitamins, hepatomegaly, his adrenal glands do not operate well and it is very difficult to make Thomas eat well. During his last MRI, there were signs of polymicrogyria. This means that at any time, Thomas could began to make epileptic seizures.
Thomas is a PBD Warrior because he is still with us, fighting everyday against his disease.
There are several other symptoms for the PBD-ZSD but the emergence and the severity can be different from one child to another.
But above all this, Thomas is always smiling, he has an infectious laugh and it is the most courageous little guy that we know. All the happiness that he gives us far outweigh his special needs and could melt the coldest hearts. He makes us appreciate each and every precious moment of life and despite all the challenge that we can face, he show us to never give up.
The disease of Thomas has allowed us to meet extraordinary people around the world and even, to make us travel. We found “The Global Foundation for Peroxisomal Disorders.” which is located in Tulsa, Oklahoma, US. This foundation allows scientists, researchers and families to be reunited every 2 years in order to advance the research, all together.
I believe that we should say the GFPD is a family for us!
To learn more about the disease of Thomas please visit the www.thegfpd.org