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.
Sunday, March 18, 2007
Chrissy also spoke with the Dr. that invented the Cystagon drug that Holt now takes every 6 hours. He gave her his thoughts on the regimen that we should undertake on a move forward basis (that in and of itself is a complete life changer). We wrestled with the times for several days but it seems that 6 am, noon, 6 pm and midnight will be the schedule that we will go with. The hardest part of it all is waking him up at midnight; he is sleeping so well and it just sucks (sorry, it just does) to have to wake him to give him medicine that smells like rotten eggs. In many ways it creates a special bond between us but its still a very emotional time. I will be travelling this week to Texas for work and Chris will be doing all 4 on her own...going to be a tough week. Tough tough tough.
We solidified our plans to travel to Washington, DC (March 27th- 30th) to meet with the team at the National Insitute of Health to begin participation in their ongoing clinical trials. To my understanding, this will ensure that we are getting Holt in front of the most experienced Cystinosis team in the world and will also enable us to get Holt the non-FDA approved eyedrops that will help control the crystallic build-up in his eyes. Chrissy and I are planning to go to San Antonio this July for a yearly conference held for families dealing with Cystinosis.
Holt continues to be a happy little boy. He loves to go outside and he loves his new pet cat-"Spicy". So, after 15 years of negotiating; Chrissy wins...she pulled the Holt card but she won. In all seriousness- one of the interesting themes that came from Chrissy's conversations with other parents of children with Cystinosis was that they all seem to share a love for animals. So (of course) we went on the quest to get a cat. Now, you just can't go to the cat store and buy a cat and the people who have the cats are VERY particular about who they dole them out to...I'm actually amazed that so many people actually have cats considering the background investigations these people do...at any rate-
We packed up the car and drove all the way down Harris Blvd to PetSmart. We found a cat named Tobias that we liked but then had to go through "The System" to get him. After a week of filling out paperwork and faxing it back to a human that refers to herself as "The FurBall Lady"; we were all set...or so we thought. It seems that she lost her light sabre the night before she was supposed to meet us to deliver the goods because she all of the sudden came up with some story about our last cat not getting her shots on time....we've never had a cat...unbelievable. So we loaded up the car this weekend and behind a wall of families 15 deep...we saw THE CAT...they all wanted her...and there was another Furball Lady Type Person doing the interviews...(literally on the spot, in store interviews) and we were # 15...but I had Mary Logan and Jack with me (both on good behavior) and told the Holt story...one call close...we win.