COLORADO SPRINGS – April is Donate Life Month and all month long Your Healthy Family is doing stories to highlight the importance of being an organ donor and the way it can bring a new life to those who are fortunate enough to receive a needed vital organ.
The Root family lives in Cañon City, Colorado. Three of their sons have an extremely rare genetic disease, called Cystinosis.
Marcus is 12 years old, Christopher is 11 and Austin is 10. The families journey with cystinosis began in 2007 when Marcus was 13 months old and went into kidney failure.
“Marcus was diagnosed first,” says Garland Root, the boys’ father. “He had to be life-flighted to Denver Children’s. At the time we were living in Wyoming and none of the doctors could tell us what was wrong with him.”
In Denver when the diagnosis of cystinosis was made, and Christopher was already on the way to the family. When Christopher was born the family was living back east, and he was misdiagnosed at birth, as not having cystinosis.
Like Marcus, when Christopher was 14 months old, he became very sick and went into kidney failure. The family had moved back to Colorado, and once again at Children’s Hospital Colorado, Christopher was also diagnosed with cystinosis.
At the time of Christopher’s diagnosis, Austin was already on the way to the family. By that time, doctors and the family knew exactly what to be looking for. Garland says, “He (Austin) was diagnosed at birth and we started his treatments right away.”
Dr. Margret Bock is a Pediatric Nephrologist with Children’s Colorado. Dr. Bock says the odds of three boys in a single family getting cystinosis are extremely low.
Dr. Bock explains, “Cysteine is an amino acid, one of the building blocks of us as human beings. People who have cystinosis, which is a very very rare condition have difficulty removing the cysteine from the places where it shouldn’t be. So it accumulates in all parts of the body, meaning in the brain, and the kidneys and the muscles, the thyroid, the bones, really all parts of the body. Since the cysteine is building up where it’s not supposed to be, it gradually causes damage.”
Dr. Bock says, “Cystinosis is inherited typically in families. People who are carriers, may not show symptoms. Then if you have two carriers who find each other and they have kids, there is a one in four chance of having a child with cystinosis .”
Garland says, “They tell you, you’re only going to have one out of four biological kids who will have this rare disorder. As far as I know, we’re the only ones in the whole world that have three, that are not twins or triplets. Worldwide there are only 2,000 reported cases of cystinosis.”
Dr. Bock says the early signs of cystinosis in young children can be obscure. “Typically it presents in children, with them failing to thrive which is our way of saying not gaining weight well or not growing. Often the kids who have cystinosis also have a very large amount of thirst and pee a lot, which is a function of what’s happening when the cysteine – the amino acid – is being deposited in the kidney and causing damage.”
Cystinosis continues to a challenging disease for those who have it, but treatment has come a long way says Dr. Bock, “Kids with cystinosis many decades ago didn’t survive long into adulthood. Now survival is improving and improving over time. These kids turn into adults and can lead very normal lives with improvements in medications and care. Those lifespans continue to get longer, and longer and longer.”
In part two of our story about these brothers, we’ll explore the next step in their journey, kidney transplant.