Fundraiser for Jaxon

Hello everyone,

First, I want to start by saying thank you for your donation, my family and I greatly appreciate your help in providing funds to do more research on such a rare disease!

My cousin, Brian and his wife Chelsea’s son Jaxon was born on July 4, 2017.  Like all soon to be parents, they did not care if they had a girl or a boy - they wanted a healthy baby.  When Jax was 4 months old his pediatrician found sugar in Jax’s urine.  This coupled with his sluggish growth, disinterest in eating and other lab tests led to a diagnosis of Cystinosis. Their baby was not healthy.

Cystinosis is a rare genetic disease.  The University of Michigan is treating 9 other people with Cystinosis.  There are an estimated 2000 people in the world with this disease!  Cystinosis is when the necessary amino acid, cystine builds up in the organs of the body (kidneys, eyes, liver, pancreas and brain) along with the muscles and white blood cells.   This build up can cause many side effects if left untreated.  The major complication of Cystinosis is Franconi’s Syndrome which is a failure of the kidneys to reabsorb nutrients and minerals.

Jax is currently taking 6 different medications to replace these nutrients and minerals throughout the day and night.  He is also taking a medicine to “melt” the cystine crystals as they build up in his system.  He takes this drug every 6 hours around the clock.  He needs drops in his eyes every hour he is awake.   His local pediatrician and the University of Michigan nephrology department monitor the status of his kidney function regularly.  People with Cystinosis have poor appetites and struggle to eat.  Jax has a G-tube (tube from his stomach to outside of his body) that his parents use to make sure he is able to take his medicine, receive fluids so he does not dehydrate and also to deliver his formula if he refuses to drink.   This is not just his regime when he is a toddler – it is his regime for the rest of his life OR until they find a cure.   

As you can see, Jax lives a pretty rough life. Cystinosis is so rare that there isnt much research on it. This donation will be going towards the research to help Jaxson and kids alike. The Cystinosis Research Foundation is our hope for Jax’s future.  The research in 1983 gave us the medicine Cystagon that “melts” the crystals.  This medicine and the knowledge of the disease progression is helpful in putting off the inevitable kidney transplant that will be needed in the future.   The Cystinosis Research Foundation is dedicated to finding better treatments to improve the quality of life for those with Cystinosis and to ultimately find a cure for this devastating disease.

Again, my family, and I all thank you for your donation and support in giving to the Cystinosis Research Foundation and hopefully someday curing this awful disease!