You guys let me just start off by saying that this blog post has been a long time coming. I am so grateful for this opportunity to introduce you to one of the coolest kids and families I know!
You see, a while after I began fighting my rare disease battle I found out my friend Alison’s son was beginning his own rare battle too. He quickly became an inspiration to my strength. His Mom continues to lovingly share each and every hill and valley on his NUBPL journey. I have never seen a person fight with such joy and perseverance in all my life. Carter truly is the living breathing example of the scripture, “the joy of the Lord is my strength”. I get tears of joy in my eyes simply witnessing how this sweet boy blesses his family and the literally everyone he meets.
“Joy of the Lord is my strength”
I asked Alison if she would mind sharing a little with me about Carter’s journey. She graciously agreed. Alison also connected me to the NUBPL foundation so Rare Love could donate 10% of our sales this month to NUBPL in honor of Carter and EVERY child with this rare disease. We originally began in March but due to Covid-19 I decided to extend it into April. Now please allow me to introduce you to Carter!
MEET CARTER, AGE 4
As a baby Carter met all of his developmental milestones, except for walking. By 15 months old, his speech had fully regressed, he was very shaky, and constantly sick. By 18 months, Carter’s family connected with a wonderful physical therapist who advocated for an MRI. His MRI showed cerebellar degeneration, which led to genetic testing. In January 2018, whole exome sequencing (WES) confirmed that Carter has a rare form of Mitochondrial Complex 1 Deficiency caused by mutations in the NUBPL gene.
“Rare form of Mitochondrial Complex 1 – NUBPL”
Since his NUBPL diagnosis, Carter has made steady improvement with three hours of therapy per week. Also diagnosed as immunocompromised, he receives IgG infusions every 7 days to keep his immune system
Intact. In August 2019, he was diagnosed with gastroparesis, a complication that plagues many people with mitochondrial disorders that affects the stomach muscles and prevents proper stomach emptying. Since that time Carter has undergone 6 surgical procedures, he is now getting all of his nutrition through a tube that bypasses his stomach. Carter also no longer eats or drinks regularly. Since June, Carter has been hospitalized 18 times. Although his disease is progressing, he continues to have a happy and positive outlook on life. Now he is working to rebuild his strength and his skills, so he can resume walking in his walker.
Although his Disease is Progressing, he continues to have a Happy and Positive Outlook…
In the words of his mother, Alison Large, “Carter is a happy, kind, and loving boy. He is ALL boy, too! He loves wrestling his big sister, anything with wheels, and dinosaurs. At therapy he never gives up and often exceeds expectations. He makes friends with everyone he meets with his big smile; he is joy personified. Carter is a hero. He is my hero!”
“He is My Hero!”
See? Now you can understand just a tiny bit of why this amazing boy is my hero too. Please help us help Carter and all the children who are fighting for treatment of this rare disease. We love you Carter! We love you Alison! We love the whole entire Large family! Thank you for sharing some of your journey with us. Blessings always. I will include the link to the NUBPL Foundation below so anyone can donate anytime now or in the future.
DONATE: http://www.nubpl.org
