This morning I was blessed to meet an amazing little man named Beckett and his wonderful family. At first glance, you’d look at him and see the perfectly adorable little man that he is and what a gift he is to his entire family. However, you need to hear his incredible story so you can completely understand just how amazing and special he truly is. And no one can tell his story better than his mom, so here in her words is a bit of his story.
Beckett arrived Friday, August 5th; a beautiful 5lbs. 6oz. Beckett is thought to have pyruvate carboxylase deficiency which is a mitochondrial/metabolic disorder. We won’t know for sure if this is his diagnosis until the blood test results and his skin biopsy come back from the lab (it takes 4-6 weeks for the results). PC deficiency is a rare autosomal recessive disease (an estimated incidence of 1 in 250,000 births worldwide), with three distinct clinical presentations: Type A (“North Amerian” form) is found mostly in Native Americans and is discovered in infancy resulting in biochemical imbalances and severe retardation resulting in death in infancy or early childhood, Type B (“French” form)is the neonatal form found mostly in Europe (primarily France)and is discovered very early in life with severe biochemical imbalances and little to no neurological function resulting in death within the first three months of life, Type C is known as the benign form with mildly delayed neurological development and episodes of metabolic acidosis. Beckett is thought to have Type B, the most severe form, due to the fact that he presented in utero and at birth with symptoms of PC deficiency. PC deficiency results in malfunction of the citric acid cycle (this biochemical process derives energy from carbohydrates) and gluconeogenesis (produces carbohydrate fuel for the body when carbohydrate intake is low), thereby depriving the body of energy. Severe energy deficit causes neurologic symptoms and congenital brain malformations due to a lack of energy during neurogenesis. Basically, mutations in the PC gene reduce the amount of pyruvate carboxylase in cells or disrupt the enzyme’s activity. The missing or altered enzyme cannot carry out it’s essential role in generating glucose, which impairs the body’s ability to make energy in mitochondria. A loss of pyruvate carboxylase allows toxic levels of lactic acid and ammonia to build up and damage organs and tissues. We don’t know how much time we have with our beautiful son, but we would like to do as much with him as we can, as normally as possible. This is why we pushed so hard to get Beckett home from Children’s Hospital Boston. It has been a long road for us, but we are finally home (we arrived Thursday, October 13th). We are enjoying our time together as a family, and loving every moment that we get to spend with our two children. If you would like to follow our family’s progress, please go to Care Pages and search for BEGauvin. It’s free, you just have to create a user name and password.
Thank you guys for opening your home and your hearts to me this morning. I feel so very fortunate to have captured this special time for you all. I hope you enjoy your sneak peek!
Told ya, isn’t he just adorable!
Seriously adorable, from his head to his sweet toes!
The whole amazing family!
Did I mention, I kinda fell in love with his big sister J.
This one actually made me break down in tears when I saw it. The way B is looking at sweet J, holding his hand.
Their bond is so strong!
And lastly, I had to share this sweet kiss, J is such a great big sister!