Cystinosis is a rare, inherited, metabolic disease that is characterized by the abnormal accumulation of the amino acid cystine in each cell. The build-up of cystine in the cells slowly and eventually destroys all major organs of the body including the kidneys, liver, eyes, muscles, bone marrow, thyroid and brain. Although medication is available to control some of the symptoms of this insidious disease, Cystinosis remains incurable.

Friday, July 06, 2007


My apologies for the long delay, things have been quite hectic! Mary Logan squeaked through the first grade and Jack managed to get through another year of pre-school which means that summer has officially begun. We started off with a long weekend trip to the beach to spend some time with Mimi and Papa Fred at their new house (quite the retreat, I must say) and had a wonderful time. The kids love the beach and thoroughly enjoy riding on the Monster Truck style golf cart.

Jack has had two trips to Mimi camp and one to Grammy Camp in Cary and Mary Logan went with Grammy to Massachussetts for the annual clam boil. Mary Logan had a successful season with the Hamptons swim team and both kids have spent time at various summer camps.

Holt is making positive progress. At his most recent check-up he weighed in at 21 pounds and is working hard every day on his walking. He can take several steps now without his walker and does everything with a big smile on his face. He LOVES to be outside in the sun with his walker scurrying about the garage and the driveway and gets pure joy out of rolling all of the balls in the garage down the driveway and into the street. He goes to physical therapy on a regular basis and they have ordered inserts for his shoes that will help correct his severe pronation which will help strangthen his hips, thighs and back.

Chrissy and I will be going to San Antonio on the 19th of this month for the yearly Cystinosis conference and we look forward to our continuing education on topic and meeting other families with similar circumstances. Chrissy continues her machine-like routine and is "on" every single day. I think we are both making progress in our spirits and are hopefully in the early stages of acceptance. My travel schedule with work has been busy (leave for China and India tomorrow) and will continue on point throughout the summer but McAfee has been good to us and we could not be more pleased with how they have supported us throughout this situation.

We are blessed to have such a wonderful friends and family network and truly appreciate all of the support we continue to receive. Until next time...thanks.

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