Samuel and Lars were born with a rare genetic disease called cystinosis.  It is an autosomal recessive lysosomal storage disease, and it leads to progressive kidney failure, corneal disease, thyroid disease and muscle wasting.  Cystine, an amino acid, builds up in the cells and forms crystals, damaging every organ in the body.  Fortunately, there is a medication, called cysteamine, that helps deplete cystine from the cells, slowing the progression of the disease.  It has to be taken every 6 hours and has the unfortunate side effects of nausea and vomiting, as well as a sulfur (rotten egg) smell.

 

Samuel, who is 6 years old, was diagnosed shortly after his first birthday.  For several months he had failure to thrive, refractory vomiting and dehydration before we were referred to a pediatric nephrologist.  His kidneys do not reabsorb salt, fluid, glucose and protein, so we have to replace these things around the clock.  He got a gastric feeding tube a couple months after he was diagnosed, which has helped him get adequate nutrition and electrolyte replacement.  When Sam was two he was lucky to be on a drug trial for a longer acting version of cysteamine, which is dosed every 12 hours.  The drug was approved by the FDA in 2013.  It costs $400,000 a year!

Lars, who is three years old, was diagnosed shortly after birth.  He had a 25% chance that he would have cystinosis, too.  Because of early diagnosis, we were able to start him on cysteamine therapy immediately, and this has significantly delayed damage to his kidneys.  He did not have the failure to thrive that Sam had, and he only has to take the one medication.

We started a non-profit group in 2012 called Sam’s Hope For A Cure, and we raise money for cystinosis research.  All the money we raise goes to the Cystinosis Research Foundation (CRF), which has funded over $20 million in science research and drug development.  Stephanie Cherqui is one of the researchers funded by CRF.  She has found a way to cure cystinosis, using hematopoietic stem cell transplant in mice with cystinosis, and is working to get FDA approval for a human trial.  Her research has the potential to help many other rare genetic diseases, especially other lysosome storage diseases.

For more information on this research, here is a blog post:

Here is a short news article/video by KSL on our boys:

Here is a short movie made by the Cystinosis Research Foundation about our boys and the exciting research that will hopefully cure this and many other diseases: