I am grandma to this wonderful young man. I will start with where we started. He has always had very bad eyesite, wearing glasses as a toddler. They were lucky enough to have an eye doctor that watched him very closely. About a year ago the doctor found that his retina was changing shape and deteriorating, so recommended he see a specialist at Duke.  They then determined that some genetic testing was in order to see if they could find a reason there . In the mean time he had some routine blood work done that came back a little odd, a retest was the same so an ultra sound of his kidneys was the next step. A cyst was found, and almost at the same moment his gentics came back. We now know that there are two NPHP1 deletions which cause - Nephronophthisis- also known as Cystic kidney disease in some with this deletion. Sam has it. It is a long-term condition that affects the kidneys and leads to end stage kidney disease during childhood or adolescence. This along with loss of vision over time is called Senior-Loken syndrome. There is still alot of testing ahead of him to determine some of the other health issues associated with this condition. He curently has Stage 3 childhood kidney disease. We won't know for a while if he will be a candidate for transplant later on, but we are sure that he will have to be on Dialysis.

His primary care doctor has helped set up an in home nurse that comes every few days to draw blood, check urine and give IV fluids, which is a big help to his mom. He will be receiving a GI tube to help him gain weight as he has also been diagnosed with Failure to thrive as he isn't growing and loosing weight. They are saying that this is due in part to his sick kidneys. He is also on the autism spectrum which can also be associated to this syndrome.

Samuels mom Satin is a hard working single mother of 3 wonderful kids, Tristan is 12, Samuel is 10 and Violet is almost 4. She works full time as a paramedic and firefighter as well as part time at AutoZone. She Travels 3 hours each direction to Duke Childrens Hospital, with frequent hospital stays and testing. She misses alot of work. We all know that your bills don't go away they just increase with this kind of thing. Which brings us to now, we are asking for prayers and healing vibes for our dear Samuel as well as any donation that you can make. I know we have friends and family out there all asking us to put up this page so that they can help. If this story touches you please donate .
Bless you all,
Grandma Traci